Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bottani, A.; Robinson, W.P.; DeLoizer-Blanchet, C.D.

1994-05-15

The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; bothmore » patients had late-onset mild seizures; as they grow older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients. 25 refs., 2 figs., 1 tab.« less

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.

PubMed

Mundhofir, Farmaditya E P; Sistermans, Erik A; Faradz, Sultana M H; Hamel, Ben C J

2013-03-01

Apert syndrome (AS) is a rare autosomal dominant disorder characterised by craniosynostosis and limb malformations, and is associated with congenital heart disease and other systemic malformations, including intellectual disability. We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively. Although the syndrome has been frequently described, this is the first clinical report of AS confirmed by molecular analysis in Indonesia. The difference in severity of clinical features in the two patients may be consistent with a genotype-phenotype correlation of the FGFR2mutation. The management of individuals with AS is best achieved within a multidisciplinary setting. However, in most developing countries, early intervention may be delayed due to late diagnosis, a lack of facilities and financial constraints. This report underpins the benefits of early diagnosis for AS management.

Case-control analysis of paternal age and trisomic anomalies.

PubMed

De Souza, E; Morris, J K

2010-11-01

To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome. Case-control: cases with each of these syndromes were matched to four controls with Down syndrome from within the same congenital anomaly register and with maternal age within 6 months. Data from 22 EUROCAT congenital anomaly registers in 12 European countries. Diagnoses with observed or (for terminations) predicted year of birth from 1980 to 2005, comprising live births, fetal deaths with gestational age ≥ 20 weeks and terminations after prenatal diagnosis of the anomaly. Data include 374 cases of Patau syndrome, 929 of Edwards syndrome, 295 of Klinefelter syndrome, 28 of XYY syndrome and 5627 controls with Down syndrome. Odds ratio (OR) associated with a 10-year increase in paternal age for each anomaly was estimated using conditional logistic regression. Results were adjusted to take account of the estimated association of paternal age with Down syndrome (1.11; 95% CI 1.01 to 1.23). The OR for Patau syndrome was 1.10 (95% CI 0.83 to 1.45); for Edwards syndrome, 1.15 (0.96 to 1.38); for Klinefelter syndrome, 1.35 (1.02 to 1.79); and for XYY syndrome, 1.99 (0.75 to 5.26). There was a statistically significant increase in the odds of Klinefelter syndrome with increasing paternal age. The larger positive associations of Klinefelter and XYY syndromes with paternal age compared with Patau and Edwards syndromes are consistent with the greater percentage of these sex chromosome anomalies being of paternal origin.

Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gillessen-Kaesbach, G.; Passarge, E.; Horsthemke, B.

1995-04-10

This {open_quotes}Letter to the Editor{close_quotes} decribes a patient with Angelman syndrome due to paternal uniparental disomy of chromosome 15 and a milder phenotype compared to Angelman syndrome patients with a 15q deletion. 10 refs., 1 fig.

Correction of Brachymetatarsia and Medial Angulation of the Great Toe of Apert Foot By Distraction Osteogenesis: A Review of 7 Years of Experience.

PubMed

Calis, Mert; Oznur, Ali; Ekin, Omer; Vargel, Ibrahim

2016-09-01

Apert foot anomalies may cause severe problems such as pain and development of callus formation related to weight redistribution, problems with footwear, and gait disturbances that may limit their daily activities. The main purpose of this study was to review our experience with distraction osteogenesis for the correction of brachymetatarsia and the great toe angulation of the patients with Apert syndrome. This study retrospectively reviewed 7 patients (14 extremities) followed up for Apert syndrome who underwent distraction for the correction of bilateral congenital brachymetatarsia and angulation of the great toe between 2004 and 2008. Correction of the metatarsal inclination angle, the medial angulation of the great toe, the percentage of lengthening, and lengthening rates of distracted bones were evaluated. Patients ranged in age from 4 to 8 years at the distraction operation, with a mean age of 5.4±1.3 years, and the average length of follow-up was 86.6±21.0 months. The length of the first metatarsal bone increased significantly from the average length of 32.6±5.7 mm to an average of 46.7±6.5 mm (P<0.001). The mean lengthening rate and lengthening percentages of distracted bones were 0.4%±0.1%/month and 30.2%±6.4%/month, respectively. Preoperative and postoperative metatarsal inclination angles were at a mean of 43.8±5.12 and 32.6±3.8, respectively, and the correction of metatarsal inclination was considered as statistically significant (P<0.001). The mean angulation of the great toe reduced significantly from 49.8±11.76 to 13.2±8.5 degrees after distraction (P<0.001). Minor complications such as pin loosening, pin-tract infection, and early union that required reoperation were observed in 5 extremities (35.7%). Anatomic features of Apert foot may lead to complaints that may limit patients' daily activities and require as much attention as associated hand and craniofacial anomalies. Distraction appears to be an effective and safe approach for the

Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development

PubMed Central

de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H.

2011-01-01

The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents’ speech directed to children was obtained through observation of naturalistic parent–child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. PMID:21215458

Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

PubMed

de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

2011-02-01

The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

“Selfish spermatogonial selection”: a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders

PubMed Central

Goriely, Anne; McGrath, John J.; Hultman, Christina M.; Wilkie, Andrew O.M.; Malaspina, Dolores

2014-01-01

Objectives There is robust evidence from epidemiological studies that the offspring of older fathers have an increased risk of neurodevelopmental disorders such as schizophrenia and autism. Here we present a novel mechanism that may contribute to this association. Methods Narrative review. Results Because the male germ cell undergoes many more cell divisions across the reproductive age range, copy-errors taking place in the paternal germline are associated with de novo mutations in the offspring of older men. Recently it has been recognized that somatic mutations in male germ cells that modify proliferation via dysregulation of the RAS pathway can lead to within-testis expansion of mutant clonal lines. First identified in association with rare paternal age-effect disorders (e.g. Apert syndrome, achondroplasia), this process is known as ‘selfish spermatogonial selection’. This mechanism will (a) favor propagation of germ cells carrying pathogenic mutations, (b) increasingly skew the mutational profile of sperm as men age, and (c) result in an enrichment of de novo mutations in the offspring of older fathers that preferentially impact on specific cellular signaling pathways. This mechanism offers a parsimonious explanation not only for the association between advanced paternal age and various neurodevelopmental disorders, but also provides insights into the genetic architecture (role of de novo mutations), neurobiological correlates (altered cell cycle) and some epidemiological features of these disorders. We outline hypotheses to test this model. Conclusions In light of our current understanding of the genetic networks involved in neurocognitive disorders and the principles of selfish spermatogonial selection, we speculate that some pathogenic mutations associated with these disorders are the consequence of a selfish mechanism originating in the aging testis. Given the secular changes for delayed parenthood in most societies, this hypothesis has important public

Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

PubMed

Gyftodimou, J; Karadima, G; Pandelia, E; Vassilopoulos, D; Petersen, M B

1999-06-01

We report a case of Angelman syndrome (AS) with paternal uniparental disomy (pUPD) of chromosome 15. This 6-year-old girl with overgrowth had frequent, but only provoked laughter, was mildly ataxic with limb hypertonia, and had no intelligible speech. She had deep-set eyes, protruding tongue, and prominent chin. The karyotype was normal. DNA analysis with microsatellites from chromosome 15 showed no inheritance of maternal alleles both within and outside the AS critical region. Proximal markers showed reduction to homozygosity of paternal alleles, intermediate markers showed nonreduction, and distal markers reduction, thus suggesting a meiosis II nondisjunction event in the father with two crossovers. This is, to our knowledge, the first reported case of AS due to meiosis II nondisjunction. We present detailed physical measurements in this patient, adding to the clinical description of the milder phenotype in AS due to pUPD.

Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy

PubMed Central

Kantarci, Sibel; Ragge, Nicola K.; Thomas, N. Simon; Robinson, David O.; Noonan, Kristin M.; Russell, Meaghan K.; Donnai, Dian; Raymond, F. Lucy; Walsh, Christopher A.; Donahoe, Patricia K.; Pober, Barbara R.

2010-01-01

Donnai–Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother carried only wild-type LRP2 alleles. This is the first case of DBS/FOAR resulting from uniparental disomy (UPD) and the fourth published case of any paternal UPD 2 ascertained through unmasking of an autosomal recessive disorder. The absence of clinical symptoms above and beyond the classical phenotype in this and the other disorders suggests that paternal chromosome 2 is unlikely to contain imprinted genes notably affecting either growth or development. This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders. PMID:18553518

Regulatory Elements Associated with Paternally-Expressed Genes in the Imprinted Murine Angelman/Prader-Willi Syndrome Domain

PubMed Central

Khadake, Jyoti; Heggestad, Arnold D.; Ma, Xiaojie; Johnstone, Karen A.; Resnick, James L.; Yang, Thomas P.

2013-01-01

The Angelman/Prader-Willi syndrome (AS/PWS) domain contains at least 8 imprinted genes regulated by a bipartite imprinting center (IC) associated with the SNRPN gene. One component of the IC, the PWS-IC, governs the paternal epigenotype and expression of paternal genes. The mechanisms by which imprinting and expression of paternal genes within the AS/PWS domain – such as MKRN3 and NDN – are regulated by the PWS-IC are unclear. The syntenic region in the mouse is organized and imprinted similarly to the human domain with the murine PWS-IC defined by a 6 kb interval within the Snrpn locus that includes the promoter. To identify regulatory elements that may mediate PWS-IC function, we mapped the location and allele-specificity of DNase I hypersensitive (DH) sites within the PWS-IC in brain cells, then identified transcription factor binding sites within a subset of these DH sites. Six major paternal-specific DH sites were detected in the Snrpn gene, five of which map within the 6 kb PWS-IC. We postulate these five DH sites represent functional components of the murine PWS-IC. Analysis of transcription factor binding within multiple DH sites detected nuclear respiratory factors (NRF's) and YY1 specifically on the paternal allele. NRF's and YY1 were also detected in the paternal promoter region of the murine Mrkn3 and Ndn genes. These results suggest that NRF's and YY1 may facilitate PWS-IC function and coordinately regulate expression of paternal genes. The presence of NRF's also suggests a link between transcriptional regulation within the AS/PWS domain and regulation of respiration. 3C analyses indicated Mkrn3 lies in close proximity to the PWS-IC on the paternal chromosome, evidence that the PWS-IC functions by allele-specific interaction with its distal target genes. This could occur by allele-specific co-localization of the PWS-IC and its target genes to transcription factories containing NRF's and YY1. PMID:23390487

Germline stem cell competition, mutation hot spots, genetic disorders and older dads

PubMed Central

Arnheim, Norman; Calabrese, Peter

2016-01-01

Some de novo human mutations arise at frequencies far exceeding the genome average mutation rate. Examples are the common mutations at one or a few sites in the genes causing achondroplasia, Noonan syndrome, multiple endocrine neoplasia 2B and Apert syndrome. These mutations are recurrent, provide a gain of function, are paternally derived and are more likely transmitted as the father ages. Recent experiments tested whether the high mutation frequencies are due to an elevated mutation rate per cell division, as expected, or an advantage of the mutant spermatogonial stem cells over wild-type stem cells. The evidence, which includes the surprising discovery of testis mutation clusters, rejects the former model but not the latter. We propose how the mutations might alter spermatogonial stem cell function and discuss how germline selection contributes to the paternal age effect, the human mutational load and adaptive evolution. PMID:27070266

Older paternal age and fresh gene mutation: data on additional disorders.

PubMed

Jones, K L; Smith, D W; Harvey, M A; Hall, B D; Quan, L

1975-01-01

Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown.

Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing

PubMed Central

Stanurova, Jana; Neureiter, Anika; Hiber, Michaela; de Oliveira Kessler, Hannah; Stolp, Kristin; Goetzke, Roman; Klein, Diana; Bankfalvi, Agnes; Klump, Hannes; Steenpass, Laura

2016-01-01

Genomic imprinting is an epigenetic phenomenon resulting in parent-of-origin-specific gene expression that is regulated by a differentially methylated region. Gene mutations or failures in the imprinting process lead to the development of imprinting disorders, such as Angelman syndrome. The symptoms of Angelman syndrome are caused by the absence of functional UBE3A protein in neurons of the brain. To create a human neuronal model for Angelman syndrome, we reprogrammed dermal fibroblasts of a patient carrying a defined three-base pair deletion in UBE3A into induced pluripotent stem cells (iPSCs). In these iPSCs, both parental alleles are present, distinguishable by the mutation, and express UBE3A. Detailed characterization of these iPSCs demonstrated their pluripotency and exceptional stability of the differentially methylated region regulating imprinted UBE3A expression. We observed strong induction of SNHG14 and silencing of paternal UBE3A expression only late during neuronal differentiation, in vitro. This new Angelman syndrome iPSC line allows to study imprinted gene regulation on both parental alleles and to dissect molecular pathways affected by the absence of UBE3A protein. PMID:27484051

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

PubMed

Petit, François M; Gajdos, Vincent; Parisot, Frédéric; Capel, Liliane; Aboura, Azzedine; Lachaux, Alain; Tachdjian, Gérard; Poüs, Christian; Labrune, Philippe

2005-03-01

Crigler-Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate glucuronosyltransferase located on chromosome 2. We report on a child with CN-I due to a phenylalanine residue deletion inherited only from the father carrying this deletion at the heterozygous state. Cytogenetic analyses showed no deletion of the chromosomal 2q37 region. Microsatellite analysis of the child and his parents was consistent with paternal isodisomy for chromosome 2 in the child. This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases.

Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domains

PubMed Central

Rabinovitz, Shiri; Kaufman, Yotam; Ludwig, Guy; Razin, Aharon; Shemer, Ruth

2012-01-01

The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprinted domain is regulated by a bipartite imprinting control center (IC) composed of a sequence around the SNRPN promoter (PWS-IC) and a 880-bp sequence located 35 kb upstream (AS-IC). The AS-IC imprint is established during gametogenesis and confers repression upon PWS-IC on the maternal allele. Mutation at PWS-IC on the paternal allele leads to gene silencing across the entire PWS/AS domain. This silencing implies that PWS-IC functions on the paternal allele as a bidirectional activator. Here we examine the mechanism by which PWS-IC activates the paternally expressed genes (PEGs) using transgenes that include the PWS-IC sequence in the presence or absence of AS-IC and NDN, an upstream PEG, as an experimental model. We demonstrate that PWS-IC is in fact an activator of NDN. This activation requires an unmethylated PWS-IC in the gametes and during early embryogenesis. PWS-IC is dispensable later in development. Interestingly, a similar activation of a nonimprinted gene (APOA1) was observed, implying that PWS-IC is a universal activator. To decipher the mechanism by which PWS-IC confers activation of remote genes, we performed methylated DNA immunoprecipitation (MeDIP) array analysis on lymphoblast cell lines that revealed dispersed, rather than continued differential methylation. However, chromatin conformation capture (3c) experiments revealed a physical interaction between PWS-IC and the PEGs, suggesting that activation of PEGs may require their proximity to PWS-IC. PMID:22529396

[Acrocephalosyndactylia. Apert' syndrome. A review of literature (author's transl)].

PubMed

Sanz-Gadea, R; García-Sicilia, A; Sanz-Gadea, J; González-Coviella, L; Esteban Mujica, B; Piñero Campos, P

1978-10-01

Authors revise world bibliography up to 153 cases. As introduction, they study the different anomalies that are presented, making special mention to the frequency of this syndrome, quoting to the statistics of different authors. Familiar antecedents, parents age and the alterations that had been presented in children affected with this process, including considerations not only within race, related by blood and sex, but also those malformations that in an accessorial way were displayed with more frequency have been taken into consideration. Between all the conclusions, it's significative that syndactily appears with more frequency in fatherly antecedents and although this syndrome appears in young parents, it's increases in great proportion as the age of the progenitors advances.

X inactivation in Rett syndrome: A preliminary study showing partial preferential inactivation of paternal X with the M27{beta} probe

DOE Office of Scientific and Technical Information (OSTI.GOV)

Camus, P.; Abbadi, N.; Gilgenkrantz, S.

1994-04-15

Rett syndrome (RS) is a severe progressive neurological disorder occurring exclusively in females. Most cases are sporadic. The few familial cases (less than 1%) cannot be explained by a simple mode of inheritance. Several hypotheses have been proposed: X-linked male lethal mutation, maternal uniparental disomy, fresh mutation on the X chromosome, involvement of mitochondrial DNA and differential inactivation with metabolic interference of X-borne alleles. The authors have examined the pattern of X inactivation in 10 affected girls who were selected according to the clinical criteria previously described and accepted by the French Rett Scientific Committee. The X inactivation pattern wasmore » studied by analysis of methylation at the hypervariable locus DXS255 with the M27{beta} probe. The results show a more-or-less skewed inactivation of paternal X in 8 Rett females, and 2 cases of symmetrical inactivation. In control girls, inactivation was symmetrical cases and the maternal X has been preferentially inactivated in the other 2 cases. In no case was a total skewed inactivation observed. Though there was clear evidence for a preferential paternal X inactivation that was statistically significant further studies are necessary to establish a relationship between X inactivation pattern and Rett syndrome.« less

Longer Duration and Earlier Age of Onset of Paternal Betel Chewing and Smoking Increase Metabolic Syndrome Risk in Human Offspring, Independently, in a Community-Based Screening Program in Taiwan.

PubMed

Yen, Amy Ming-Fang; Boucher, Barbara J; Chiu, Sherry Yueh-Hsia; Fann, Jean Ching-Yuan; Chen, Sam Li-Sheng; Huang, Kuo-Chin; Chen, Hsiu-Hsi

2016-08-02

Transgenerational effects of paternal Areca catechu nut chewing on offspring metabolic syndrome (MetS) risk in humans, on obesity and diabetes mellitus experimentally, and of paternal smoking on offspring obesity, are reported, likely attributable to genetic and epigenetic effects previously reported in betel-associated disease. We aimed to determine the effects of paternal smoking, and betel chewing, on the risks of early MetS in human offspring. The 13 179 parent-child trios identified from 238 364 Taiwanese aged ≥20 years screened at 2 community-based integrated screening sessions were tested for the effects of paternal smoking, areca nut chewing, and their duration prefatherhood on age of detecting offspring MetS at screen by using a Cox proportional hazards regression model. Offspring MetS risks increased with prefatherhood paternal areca nutusage (adjusted hazard ratio, 1.77; 95% confidence interval [CI], 1.23-2.53) versus nonchewing fathers (adjusted hazard ratio, 3.28; 95% CI, 1.67-6.43) with >10 years paternal betel chewing, 1.62 (95% CI, 0.88-2.96) for 5 to 9 years, and 1.42 (95% CI, 0.80-2.54) for <5 years betel usage prefatherhood (Ptrend=0.0002), with increased risk (adjusted hazard ratio, 1.95; 95% CI, 1.26-3.04) for paternal areca nut usage from 20 to 29 years of age, versus from >30 years of age (adjusted hazard ratio,1.61; 95% CI, 0.22-11.69). MetS offspring risk for paternal smoking increased dosewise (Ptrend<0.0001) with earlier age of onset (Ptrend=0.0009), independently. Longer duration of paternal betel quid chewing and smoking, prefatherhood, independently predicted early occurrence of incident MetS in offspring, corroborating previously reported transgenerational effects of these habits, and supporting the need for habit-cessation program provision. © 2016 American Heart Association, Inc.

Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans.

PubMed

Savage, A R; Petersen, M B; Pettay, D; Taft, L; Allran, K; Freeman, S B; Karadima, G; Avramopoulos, D; Torfs, C; Mikkelsen, M; Hassold, T J; Sherman, S L

1998-08-01

Paternal non-disjunction of chromosome 21 accounts for 5-10% of Down syndrome cases, therefore, relative to the maternally derived cases, little is known about paternally derived trisomy 21. We present the first analysis of recombination and non-disjunction for a large paternally derived population of free trisomy 21 conceptuses ( n = 67). Unlike maternal cases where the ratio of meiosis I (MI) to meiosis II (MII) errors is 3:1, a near 1:1 ratio exists among paternal cases, with a slight excess of MII errors. We found no paternal age effect for the overall population nor when classifying cases according to stage of non-disjunction error. Among 22 MI cases, only five had an observable recombinant event. This differs significantly from the 11 expected events ( P < 0.02, Fisher's exact), suggesting reduced recombination along the non-disjoined chromosomes 21 involved in paternal MI non-disjunction. No difference in recombination was detected among 27 paternal MII cases as compared with controls. However, cases exhibited a slight increase in the frequency of proximal and medial exchange when compared with controls (0.37 versus 0.28, respectively). Lastly, this study confirmed previous reports of excess male probands among paternally derived trisomy 21 cases. However, we report evidence suggesting an MII stage-specific sex ratio disturbance where 2.5 male probands were found for each female proband. Classification of MII cases based on the position of the exchange event suggested that the proband sex ratio disturbance was restricted to non-telomeric exchange cases. Based on these findings, we propose new models to explain the association between paternally derived trisomy 21 and excessive male probands.

Syndromes with supernumerary teeth.

PubMed

Lubinsky, Mark; Kantaputra, Piranit Nik

2016-10-01

While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Syndromes, disorders and maternal risk factors associated with neural tube defects (VII).

PubMed

Chen, Chih-Ping

2008-09-01

Neural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher- Zweymller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XXagonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

Angelman Syndrome: Genetic Mechanisms and Relationship to Prader-Willi Syndrome.

ERIC Educational Resources Information Center

Smith, Arabella

1994-01-01

Research points to two distinct regions within the Prader-Willi chromosome region: one for Prader Willi syndrome and one for Angelman syndrome. Genetic mechanisms in Angelman syndrome are complex, and at present, three mechanisms are recognized: maternal deletion, paternal uniparental disomy, and a nondeleted nondisomic form. (Author/JDD)

Paternity fraud and compensation for misattributed paternity

PubMed Central

Draper, Heather

2007-01-01

Claims for reimbursement of child support, the reversal of property settlements and compensation can arise when misattributed paternity is discovered. The ethical justifications for such claims seem to be related to the financial cost of bringing up children, the absence of choice about taking on these expenses, the hard work involved in child rearing, the emotional attachments that are formed with children, the obligation of women to make truthful claims about paternity, and the deception involved in infidelity. In this paper it is argued that there should not be compensation for infidelity and that reimbursement is appropriate where the claimant has made child support payments but has not taken on the social role of father. Where the claimant's behaviour suggests a social view of fatherhood, on the other hand, claims for compensation are less coherent. Where the genetic model of fatherhood dominates, the “other” man (the woman's lover and progenitor of the children) might also have a claim for the loss of the benefits of fatherhood. It is concluded that claims for reimbursement and compensation in cases of misattributed paternity produce the same distorted and thin view of what it means to be a father that paternity testing assumes, and underscores a trend that is not in the interests of children. PMID:17664309

Paternity fraud and compensation for misattributed paternity.

PubMed

Draper, Heather

2007-08-01

Claims for reimbursement of child support, the reversal of property settlements and compensation can arise when misattributed paternity is discovered. The ethical justifications for such claims seem to be related to the financial cost of bringing up children, the absence of choice about taking on these expenses, the hard work involved in child rearing, the emotional attachments that are formed with children, the obligation of women to make truthful claims about paternity, and the deception involved in infidelity. In this paper it is argued that there should not be compensation for infidelity and that reimbursement is appropriate where the claimant has made child support payments but has not taken on the social role of father. Where the claimant's behaviour suggests a social view of fatherhood, on the other hand, claims for compensation are less coherent. Where the genetic model of fatherhood dominates, the "other" man (the woman's lover and progenitor of the children) might also have a claim for the loss of the benefits of fatherhood. It is concluded that claims for reimbursement and compensation in cases of misattributed paternity produce the same distorted and thin view of what it means to be a father that paternity testing assumes, and underscores a trend that is not in the interests of children.

Human mutagens: evidence from paternal exposure

DOE Office of Scientific and Technical Information (OSTI.GOV)

Narod, S.A.; Douglas, G.R.; Nestmann, E.R.

1988-01-01

The importance of inherited mutations as a cause of human disease has been established clearly through examples of well-defined genetic anomalies, such as Down syndrome and retinoblastoma. Furthermore, it is suspected that environmental contaminants induce mutations resulting in increased risk for such defects in subsequent generations of persons exposed. The present lack of direct evidence for induced inherited genetic disorders in human beings hampers the development of risk estimation techniques for extrapolation from animal models. The most extensive prospective epidemiologic studies of inherited genetic effects have involved survivors of atomic bomb detonations and patients treated with cancer chemotherapy. In neithermore » case has a significant elevation in inherited genetic effects or cancer been detected in the offspring of exposed individuals. Epidemiologic studies of subjects receiving chronic exposure may be confounded by the effect of maternal exposure during pregnancy. Consideration of only paternal exposure can minimize the confounding influence of teratogenicity, enhancing the resolving power of studies for inherited effects. Using this approach, retrospective (case-control) studies of childhood cancer patients have provided limited but suggestive evidence for inheritance of induced effects. Endpoints, such as congenital malformations and spontaneous abortion following paternal exposure, can also be considered as indicators of heritable mutagenic effects. For example, there is limited evidence suggesting that paternal exposure to anaesthetic gases may cause miscarriage and congenital abnormalities as a result of induced male germ cell mutations. 104 references.« less

Paternity testing.

PubMed

Onoja, A M

2011-01-01

Molecular diagnostic techniques have found application in virtually all areas of medicine, including criminal investigations and forensic analysis. The techniques have become so precise that it is now possible to conclusively determine paternity using DNA from grand parents, cousins, or even saliva left on a discarded cigarette butt. This is a broad overview of paternity testing.

Paternalism modernised.

PubMed

Weiss, G B

1985-12-01

The practice of paternalism has changed along with developments in medicine, philosophy, law, sociology and psychology. Physicians have learned that a patient's values are a factor in determining what is best for that patient. Modern paternalism continues to be guided by the principle that the physician decides what is best for the patient and pursues that course of action, taking into account the values and interests of the patient. In the autonomy model of the doctor-patient relationship, patient values are decisive. In the paternalistic model, they are but one among several factors the physician must consider in making a medical decision. Although difficult to practise because of limitations in empathising with another person, modern paternalism remains a way to achieve maximum patient benefit.

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.

PubMed

Maximino, Luciana Paula; Ducati, Luis Gustavo; Abramides, Dagma Venturini Marques; Corrêa, Camila de Castro; Garcia, Patrícia Fernandes; Fernandes, Adriano Yacubian

2017-12-01

To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.

PubMed

Azzi, Salah; Rossignol, Sylvie; Steunou, Virginie; Sas, Theo; Thibaud, Nathalie; Danton, Fabienne; Le Jule, Maryline; Heinrichs, Claudine; Cabrol, Sylvie; Gicquel, Christine; Le Bouc, Yves; Netchine, Irene

2009-12-15

Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human disorders and cancers. The imprinted 11p15 region is crucial for the control of foetal growth and LOI at this locus is implicated in two clinically opposite disorders: Beckwith Wiedemann syndrome (BWS) with foetal overgrowth associated with an enhanced tumour risk and Russell-Silver syndrome (RSS) with intrauterine and postnatal growth restriction. So far, only a few studies have assessed multilocus LOM in human imprinting diseases. To investigate multilocus LOI syndrome, we studied the methylation status of five maternally and two paternally methylated loci in a large series (n = 167) of patients with 11p15-related foetal growth disorders. We found that 9.5% of RSS and 24% of BWS patients showed multilocus LOM at regions other than ICR1 and ICR2 11p15, respectively. Moreover, over two third of multilocus LOM RSS patients also had LOM at a second paternally methylated locus, DLK1/GTL2 IG-DMR. No additional clinical features due to LOM of other loci were found suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of patients. Surprisingly, four patients displayed LOM at both ICR1 and ICR2 11p15. Three of them had a RSS and one a BWS phenotype. Our results show for the first time that multilocus LOM can also concern RSS patients. Moreover, LOM can involve both paternally and maternally methylated loci in the same patient.

The unexpected but understandable dynamics of mating, paternity and paternal care in the ocellated wrasse

PubMed Central

Alonzo, Suzanne H.; Heckman, Kellie L.

2010-01-01

Although theory generally predicts that males should reduce paternal care in response to cues that predict increased sperm competition and decreased paternity, empirical patterns are equivocal. Some studies have found the predicted decrease in male care with increased sperm competition, while even more studies report no effect of paternity or sperm competition on male care. Here, we report the first example, to our knowledge, of paternal care increasing with the risk and intensity of sperm competition, in the ocellated wrasse (Symphodus ocellatus). Theory also predicts that if paternal care varies and is important to female fitness, female choice among males and male indicators traits of expected paternal care should evolve. Despite a non-random distribution of mating success among nests, we found no evidence for female choice among parental males. Finally, we document the highest published levels of extra-pair paternity for a species with exclusive and obligate male care: genetic paternity analyses revealed cuckoldry at 100 per cent of nests and 28 per cent of all offspring were not sired by the male caring for them. While not predicted by any existing theory, these unexpected reproductive patterns become understandable if we consider how male and female mating and parental care interact simultaneously in this and probably many other species. PMID:19812085

[Forensic hematology genetics--paternity testing].

PubMed

Kratzer, A; Bär, W

1997-05-01

In Switzerland paternity investigations are carried out using DNA analysis only since 1991. DNA patterns are inherited and only with the exception of genetically identical twins they are different in everyone and therefore unique to an individual. Hence DNA-systems are an excellent tool to resolve paternity disputes. DNA polymorphisms used for paternity diagnosis are length polymorphisms of the highly polymorphic VNTR loci [variable number of tandem repeats]. The most frequently applied systems are the DNA single locus systems. In addition to the DNA single locus systems the application of PCR (PCR = polymerase chain reaction) based DNA systems has increased particularly in difficult deficiency cases or in cases where only small evidential samples or partially degraded DNA are available. Normally four independent DNA single probes are used to produce a DNA profile from the mother, the child and the alleged father. A child inherits half the DNA patterns from its mother and the other half from its true biological father. If an alleged father doesn't possess the paternal specific DNA pattern in his DNA profile he is excluded from the paternity. In case of non-exclusion the probability for paternity is calculated according to Essen-Möller. When applying four highly polymorphic DNA single locus systems the biostatistical evaluation leads always to W-values exceeding 99.8% [= required value for positive proof of paternity]. DNA analysis is currently the best available method to achieve such effective conclusions in paternity investigations.

Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance.

PubMed Central

Hawkins, S A; Nevin, N C; Harding, A E

1990-01-01

A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it could be caused by a mutant gene on the X chromosome. Images PMID:2325091

Resonance and speech articulation after midface advancement in craniofacial dysostosis.

PubMed

Bordbar, Patrishia; Blumenow, Wendy; Duncan, Christian; Richardson, David

2012-03-01

This study aimed to analyze changes in resonance and speech articulation after midface advancement in syndromic craniofacial patients and to assess the influence of craniofacial diagnosis and the presence or absence of a cleft palate. This study is a retrospective analysis of resonance and speech articulation in patients after midface advancement. This project was carried out in a multidisciplinary pediatric craniofacial service. Eighteen patients underwent midface advancement between 2002 and 2009. Three were excluded because of inadequate records or presence of tracheostomy. Midface advancement was done by Le Fort III, facial bipartition, or monobloc, either conventional surgery or distraction osteogenesis. Outcomes include perceptual assessment of articulation and resonance using GOS.SP.ASS.98 revised and recommendation for speech surgery. Hypernasality scores decreased in 7 patients (46.7%), and 5 patients were recommended for speech surgery. Hyponasality scores improved in 10 patients (66.7%), were unchanged in 3 patients (20%), and decreased in 2 patients (13%). Articulation changed (improved) in 1 patient (6.7%) only. Hypernasality scores decreased in 33.3% of Crouzon and 71.4% of Apert patients. Five patients had a cleft palate, 4 had Apert syndrome, and hypernasality scores decreased in 3 patients. Of 3 patients with Apert syndrome but no cleft palate, 2 (66.7%) also had a decrease in hypernasality scores. Our findings suggest a high incidence of deterioration in velopharyngeal function after midface advancement, particularly in Apert syndrome, regardless of the presence of a cleft, and an improvement in hyponasality, but minimal change in articulation. Larger prospective multicenter studies are required to investigate these findings further.

A candidate model for Angelman syndrome in the mouse.

PubMed

Cattanach, B M; Barr, J A; Beechey, C V; Martin, J; Noebels, J; Jones, J

1997-07-01

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are well-recognized examples of imprinting in humans. They occur most commonly with paternal and maternal 15q11-13 deletions, but also with maternal and paternal disomy. Both syndromes have also occurred more rarely in association with smaller deletions seemingly causing abnormal imprinting. A putative mouse model of PWS, occurring with maternal duplication (partial maternal disomy) for the homologous region, has been described in a previous paper but, although a second imprinting effect that could have provided a mouse model of AS was found, it appeared to be associated with a slightly different region of the chromosome. Here, we provide evidence that the same region is in fact involved and further demonstrate that animals with paternal duplication for the region exhibit characteristics of AS patients. A mouse model of AS is, therefore, strongly indicated.

Paternal history of diabetes mellitus and hypertension affects the prevalence and phenotype of PCOS.

PubMed

Cheng, Chen; Zhang, Haolin; Zhao, Yue; Li, Rong; Qiao, Jie

2015-12-01

The purpose of the present study is to determine if paternal or maternal history of diabetes mellitus (DM) and hypertension (HT) contributes to the prevalence and phenotype of polycystic ovary syndrome (PCOS). We performed an epidemiologic study about PCOS from four districts in Beijing, China, between 2008 and 2009. Parental histories of DM and HT were collected, and the basic characteristics and serum indices of 123 PCOS patients and 718 non-PCOS controls were tested. The prevalence of a parental history of DM and HT was significantly higher in PCOS patients than non-PCOS women (17.1 % vs. 9.2 % and 42.3 % vs. 26.0 %, P < 0.05, respectively). When paternal history was separated from maternal history, only a paternal history of DM and HT reached statistical significance between PCOS and non-PCOS patients (odds ratio (OR) = 3.42, 95 % confidence interval (CI) = 1.69-6.91; OR = 2.50, 95 % CI = 1.58-3.93, respectively). A paternal history of both DM and HT was significantly associated with sex hormone-binding globulin, fasting plasma glucose, and fasting insulin levels, the free androgen index, and the homeostatic model assessment-insulin resistance in PCOS patients (P < 0.05 for all). There was no independent association between maternal history and the clinical or biochemical phenotype of PCOS. PCOS patients with a positive paternal history of both DM and HT have an adverse endocrine and metabolic profile. A paternal history of DM and HT poses a risk to PCOS.

Paternity analysis in Excel.

PubMed

Rocheta, Margarida; Dionísio, F Miguel; Fonseca, Luís; Pires, Ana M

2007-12-01

Paternity analysis using microsatellite information is a well-studied subject. These markers are ideal for parentage studies and fingerprinting, due to their high-discrimination power. This type of data is used to assign paternity, to compute the average selfing and outcrossing rates and to estimate the biparental inbreeding. There are several public domain programs that compute all this information from data. Most of the time, it is necessary to export data to some sort of format, feed it to the program and import the output to an Excel book for further processing. In this article we briefly describe a program referred from now on as Paternity Analysis in Excel (PAE), developed at IST and IBET (see the acknowledgments) that computes paternity candidates from data, and other information, from within Excel. In practice this means that the end user provides the data in an Excel sheet and, by pressing an appropriate button, obtains the results in another Excel sheet. For convenience PAE is divided into two modules. The first one is a filtering module that selects data from the sequencer and reorganizes it in a format appropriate to process paternity analysis, assuming certain conventions for the names of parents and offspring from the sequencer. The second module carries out the paternity analysis assuming that one parent is known. Both modules are written in Excel-VBA and can be obtained at the address (www.math.ist.utl.pt/~fmd/pa/pa.zip). They are free for non-commercial purposes and have been tested with different data and against different software (Cervus, FaMoz, and MLTR).

Certainty of paternity and paternal investment in eastern bluebirds and tree swallows

USGS Publications Warehouse

Kempenaers, Bart; Lanctot, Richard B.; Robertson, Raleigh J.

1998-01-01

Extra-pair paternity is common in many socially monogamous passerine birds with biparental care. Thus, males often invest in offspring to which they are not related. Models of optimal parental investment predict that, under certain assumptions, males should lower their investment in response to reduced certainty of paternity. We attempted to reduce certainty of paternity experimentally in two species, the eastern bluebird, Sialia sialis, and the tree swallow, Tachycineta bicolor, by temporarily removing fertile females on two mornings during egg laying. In both species, experimental males usually attempted to copulate with the female immediately after her reappearance, suggesting that they experienced the absence of their mate as a threat to their paternity. Experimental males copulated at a significantly higher rate than control males. However, contrary to the prediction of the model, experimental males did not invest less than control males in their offspring. There was no difference between experimental and control nests in the proportion of male feeds, male and female feeding rates, nestling growth and nestling condition and size at age 14 days. We argue that females might have restored the males’ confidence in paternity after the experiment by soliciting or accepting copulations. Alternatively, males may not reduce their effort, because the fitness costs to their own offspring may outweigh the benefits for the males, at least in populations where females cannot fully compensate for reduced male investment.

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one

PubMed Central

Goel, Ajay; Nguyen, Thuy-Phuong; Leung, Hon-Chiu E.; Nagasaka, Takeshi; Rhees, Jennifer; Hotchkiss, Erin; Arnold, Mildred; Banerji, Pia; Koi, Minoru; Kwok, Chau-To; Packham, Deborah; Lipton, Lara; Boland, C. Richard; Ward, Robyn L.; Hitchins, Megan P.

2013-01-01

Lynch syndrome is an autosomal dominant cancer predisposition syndrome classically caused by germline mutations of the mismatch repair genes, MLH1, MSH2, MSH6 and PMS2. Constitutional epimutations of the MLH1 gene, characterized by soma-wide methylation of a single allele of the promoter and allelic transcriptional silencing, have been identified in a subset of Lynch syndrome cases lacking a sequence mutation in MLH1. We report two individuals with no family history of colorectal cancer who developed that disease at age 18 and 20 years. In both cases, cancer had arisen because of the de novo occurrence of a constitutional MLH1 epimutation and somatic loss-of-heterozygosity of the functional allele in the tumors. We show for the first time that the epimutation in one case arose on the paternally inherited allele. Analysis of 13 tumors from seven individuals with constitutional MLH1 epimutations showed eight tumors had lost the second MLH1 allele, two tumors had a novel pathogenic missense mutation and three had retained heterozygosity. Only 1 of 12 tumors demonstrated the BRAF V600E mutation and 3 of 11 tumors harbored a mutation in KRAS. The finding that epimutations can originate on the paternal allele provides important new insights into the mechanism of origin of epimutations. It is clear that the second hit in MLH1 epimutation-associated tumors typically has a genetic not epigenetic basis. Individuals with mismatch repair–deficient cancers without the BRAF V600E mutation are candidates for germline screening for sequence or methylation changes in MLH1. PMID:20473912

Why Do Cuckolded Males Provide Paternal Care?

PubMed Central

Griffin, Ashleigh S.; Alonzo, Suzanne H.; Cornwallis, Charlie K.

2013-01-01

In most species, males do not abandon offspring or reduce paternal care when they are cuckolded by other males. This apparent lack of adjustment of paternal investment with the likelihood of paternity presents a potential challenge to our understanding of what drives selection for paternal care. In a comparative analysis across birds, fish, mammals, and insects we identify key factors that explain why cuckolded males in many species do not reduce paternal care. Specifically, we show that cuckolded males only reduce paternal investment if both the costs of caring are relatively high and there is a high risk of cuckoldry. Under these circumstances, selection is expected to favour males that reduce paternal effort in response to cuckoldry. In many species, however, these conditions are not satisfied and tolerant males have outcompeted males that abandon young. PMID:23555193

The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level.

PubMed

Arslan, Ruben C; Penke, Lars; Johnson, Wendy; Iacono, William G; McGue, Matt

2014-01-01

Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father's age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents' trait levels measured with the same precision as offspring's. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ) had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents' intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (<1% of variance explained) on intelligence. We discuss future avenues for studies of paternal age effects and suggest that stronger research designs are needed to rule out confounding factors involving birth order and the Flynn effect.

Otitis Media in Young Children with Disabilities--Practical Strategies. FPG Snapshot #16

ERIC Educational Resources Information Center

FPG Child Development Institute, University of North Carolina, 2004

2004-01-01

Studies have shown that some children are at higher risk for otitis media. Those at risk may include children with some developmental disorders such as Down syndrome, Williams syndrome, Apert syndrome, fragile X syndrome, Turner syndrome, cleft palate, and autism; as well as all children attending childcare. It has been hypothesized that the link…

Sperm competition games when males invest in paternal care.

PubMed

Requena, Gustavo S; Alonzo, Suzanne H

2017-08-16

Sperm competition games investigate how males partition limited resources between pre- and post-copulatory competition. Although extensive research has explored how various aspects of mating systems affect this allocation, male allocation between mating, fertilization and parental effort has not previously been considered. Yet, paternal care can be energetically expensive and males are generally predicted to adjust their parental effort in response to expected paternity. Here, we incorporate parental effort into sperm competition games, particularly exploring how the relationship between paternal care and offspring survival affects sperm competition and the relationship between paternity and paternal care. Our results support existing expectations that (i) fertilization effort should increase with female promiscuity and (ii) paternal care should increase with expected paternity. However, our analyses also reveal that the cost of male care can drive the strength of these patterns. When paternal behaviour is energetically costly, increased allocation to parental effort constrains allocation to fertilization effort. As paternal care becomes less costly, the association between paternity and paternal care weakens and may even be absent. By explicitly considering variation in sperm competition and the cost of male care, our model provides an integrative framework for predicting the interaction between paternal care and patterns of paternity. © 2017 The Author(s).

Establishment of Legal Paternity for Children of Unmarried American Women Trade-offs in Male Commitment to Paternal Investment

PubMed Central

2017-01-01

The establishment of a legal father for children of unmarried parents reflects both high paternity confidence and male willingness to commit to paternal investment. Whether an unmarried man voluntarily acknowledges paternity after a child is born has important consequences for both the mother and child. This paper brings to bear a life history perspective on paternity establishment, noting that men face trade-offs between mating and parental effort and that women will adjust their investment in children based on expected male investment. I predict that paternity establishment will be more likely when the mother has high socioeconomic status, when maternal health is good, and when the child is male, low parity, or a singleton (versus multiple) birth. I further predict that establishment of paternity will be associated with increased maternal investment in offspring, resulting in healthier babies with higher birthweights who are more likely to be breastfed. These predictions are tested using data on 5.4 million births in the United States from 2009 through 2013. Overall the results are consistent with the hypothesis that the trade-offs men face between reproductive and parental investment influence whether men voluntarily acknowledge paternity when a child is born. PMID:28205120

Establishment of Legal Paternity for Children of Unmarried American Women : Trade-Offs in Male Commitment to Paternal Investment.

PubMed

Anderson, Kermyt G

2017-06-01

The establishment of a legal father for children of unmarried parents reflects both high paternity confidence and male willingness to commit to paternal investment. Whether an unmarried man voluntarily acknowledges paternity after a child is born has important consequences for both the mother and child. This paper brings to bear a life history perspective on paternity establishment, noting that men face trade-offs between mating and parental effort and that women will adjust their investment in children based on expected male investment. I predict that paternity establishment will be more likely when the mother has high socioeconomic status, when maternal health is good, and when the child is male, low parity, or a singleton (versus multiple) birth. I further predict that establishment of paternity will be associated with increased maternal investment in offspring, resulting in healthier babies with higher birthweights who are more likely to be breastfed. These predictions are tested using data on 5.4 million births in the United States from 2009 through 2013. Overall the results are consistent with the hypothesis that the trade-offs men face between reproductive and parental investment influence whether men voluntarily acknowledge paternity when a child is born.

Psychological Well-being in Fathers of Adolescents and Young Adults with Down Syndrome, Fragile X Syndrome, and Autism.

PubMed

Hartley, Sigan L; Seltzer, Marsha Mailick; Head, Lara; Abbeduto, Leonard

2012-04-01

The psychological well-being of fathers of children with developmental disabilities remains poorly understood. The present study examined depressive symptoms, pessimism, and coping in fathers of adolescents and young adults with Down syndrome (DS; n = 59), autism spectrum disorders (ASDs; n = 135), and fragile X syndrome (FXS; n = 46) Fathers of sons/daughters with ASDs reported a higher level of depressive symptoms than the other groups of fathers. Fathers of sons/daughters with DS reported a lower level of pessimism than the other groups of fathers. There were no group differences in paternal coping style. Group differences in paternal depressive symptoms and pessimism were, in part, related to differences in paternal age, the child's behavior problems, risk of having additional children with a disability, and maternal depressive symptoms. Findings from this study can be used to educate providers and design services for fathers during the later parenting years.

Psychological Well-being in Fathers of Adolescents and Young Adults with Down Syndrome, Fragile X Syndrome, and Autism

PubMed Central

Hartley, Sigan L.; Seltzer, Marsha Mailick; Head, Lara; Abbeduto, Leonard

2011-01-01

The psychological well-being of fathers of children with developmental disabilities remains poorly understood. The present study examined depressive symptoms, pessimism, and coping in fathers of adolescents and young adults with Down syndrome (DS; n = 59), autism spectrum disorders (ASDs; n = 135), and fragile X syndrome (FXS; n = 46) Fathers of sons/daughters with ASDs reported a higher level of depressive symptoms than the other groups of fathers. Fathers of sons/daughters with DS reported a lower level of pessimism than the other groups of fathers. There were no group differences in paternal coping style. Group differences in paternal depressive symptoms and pessimism were, in part, related to differences in paternal age, the child’s behavior problems, risk of having additional children with a disability, and maternal depressive symptoms. Findings from this study can be used to educate providers and design services for fathers during the later parenting years. PMID:22611299

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

PubMed

Goel, Ajay; Nguyen, Thuy-Phuong; Leung, Hon-Chiu E; Nagasaka, Takeshi; Rhees, Jennifer; Hotchkiss, Erin; Arnold, Mildred; Banerji, Pia; Koi, Minoru; Kwok, Chau-To; Packham, Deborah; Lipton, Lara; Boland, C Richard; Ward, Robyn L; Hitchins, Megan P

2011-02-15

Lynch syndrome is an autosomal dominant cancer predisposition syndrome classically caused by germline mutations of the mismatch repair genes, MLH1, MSH2, MSH6 and PMS2. Constitutional epimutations of the MLH1 gene, characterized by soma-wide methylation of a single allele of the promoter and allelic transcriptional silencing, have been identified in a subset of Lynch syndrome cases lacking a sequence mutation in MLH1. We report two individuals with no family history of colorectal cancer who developed that disease at age 18 and 20 years. In both cases, cancer had arisen because of the de novo occurrence of a constitutional MLH1 epimutation and somatic loss-of-heterozygosity of the functional allele in the tumors. We show for the first time that the epimutation in one case arose on the paternally inherited allele. Analysis of 13 tumors from seven individuals with constitutional MLH1 epimutations showed eight tumors had lost the second MLH1 allele, two tumors had a novel pathogenic missense mutation and three had retained heterozygosity. Only 1 of 12 tumors demonstrated the BRAF V600E mutation and 3 of 11 tumors harbored a mutation in KRAS. The finding that epimutations can originate on the paternal allele provides important new insights into the mechanism of origin of epimutations. It is clear that the second hit in MLH1 epimutation-associated tumors typically has a genetic not epigenetic basis. Individuals with mismatch repair-deficient cancers without the BRAF V600E mutation are candidates for germline screening for sequence or methylation changes in MLH1. Copyright © 2010 UICC.

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

PubMed Central

2016-01-01

The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN, MKRN3, MAGEL2, NDN and several snoRNAs, but it is not yet well known which specific genes in this region are associated with this syndrome. Prader-Will-Like syndrome (PWLS) share features of the PWS phenotype and the gene functions disrupted in PWLS are likely to lie in genetic pathways that are important for the development of PWS phenotype. However, the genetic basis of these rare disorders differs and the absence of a correct diagnosis may worsen the prognosis of these individuals due to the endocrine-metabolic malfunctioning associated with the PWS. Therefore, clinicians face a challenge in determining when to request the specific molecular test used to identify patients with classical PWS because the signs and symptoms of PWS are common to other syndromes such as PWLS. This review aims to provide an overview of current knowledge relating to the genetics of PWS and PWLS, with an emphasis on identification of patients that may benefit from further investigation and genetic screening. PMID:27777904

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.

PubMed

Cheon, Chong Kun

2016-09-01

The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN , MKRN3 , MAGEL2 , NDN and several snoRNAs , but it is not yet well known which specific genes in this region are associated with this syndrome. Prader-Will-Like syndrome (PWLS) share features of the PWS phenotype and the gene functions disrupted in PWLS are likely to lie in genetic pathways that are important for the development of PWS phenotype. However, the genetic basis of these rare disorders differs and the absence of a correct diagnosis may worsen the prognosis of these individuals due to the endocrine-metabolic malfunctioning associated with the PWS. Therefore, clinicians face a challenge in determining when to request the specific molecular test used to identify patients with classical PWS because the signs and symptoms of PWS are common to other syndromes such as PWLS. This review aims to provide an overview of current knowledge relating to the genetics of PWS and PWLS, with an emphasis on identification of patients that may benefit from further investigation and genetic screening.

Paternal under-nutrition programs metabolic syndrome in offspring which can be reversed by antioxidant/vitamin food fortification in fathers

PubMed Central

McPherson, Nicole O.; Fullston, Tod; Kang, Wan Xian; Sandeman, Lauren Y.; Corbett, Mark A.; Owens, Julie A.; Lane, Michelle

2016-01-01

There is an ever increasing body of evidence that demonstrates that paternal over-nutrition prior to conception programs impaired metabolic health in offspring. Here we examined whether paternal under-nutrition can also program impaired health in offspring and if any detrimental health outcomes in offspring could be prevented by micronutrient supplementation (vitamins and antioxidants). We discovered that restricting the food intake of male rodents reduced their body weight, fertility, increased sperm oxidative DNA lesions and reduced global sperm methylation. Under-nourished males then sired offspring with reduced postnatal weight and growth but somewhat paradoxically increased adiposity and dyslipidaemia, despite being fed standard chow. Paternal vitamin/antioxidant food fortification during under-nutrition not only normalised founder oxidative sperm DNA lesions but also prevented early growth restriction, fat accumulation and dyslipidaemia in offspring. This demonstrates that paternal under-nutrition reduces postnatal growth but increases the risk of obesity and metabolic disease in the next generation and that micronutrient supplementation during this period of under-nutrition is capable of restoring offspring metabolic health. PMID:27255552

Cleft lip and palate: an adverse pregnancy outcome due to undiagnosed maternal and paternal coeliac disease.

PubMed

Arakeri, Gururaj; Arali, Veena; Brennan, Peter A

2010-07-01

Development of orofacial component involves a complex series of events. Any insult to this significant event can lead to various orofacial cleft defects. The main categories among orofacial clefts are isolated cleft palate and cleft lip with or without cleft palate. There have been many factors implicated in the development of the anomaly. The environmental factors which contribute and the genes which predispose to the condition remain obscure despite decades of research. Though it is generally agreed that folic acid deficiency is a contributory factor for non-syndromic cleft lip and palate, fewer concerns are directed towards the role for maternal/paternal nutrition in orofacial cleft origin. However, previously undescribed, here we consider the potential influence of maternal and paternal coeliac disease on the etiology of non-syndromic cleft lip and palate as an unfavorable pregnancy outcome. We postulated this relationship based on our observation, study and an empirical survey, and could be due either to (I) folic acid mal absorption (II) a genetically mediated genomic imprinting system. Copyright 2010 Elsevier Ltd. All rights reserved.

Evolutionary history of partible paternity in lowland South America

PubMed Central

Walker, Robert S.; Flinn, Mark V.; Hill, Kim R.

2010-01-01

Partible paternity, the conception belief that more than one man can contribute to the formation of a fetus, is common in lowland South America and characterized by nonexclusive mating relationships and various institutionalized forms of recognition and investment by multiple cofathers. Previous work has emphasized the fitness benefits for women where partible paternity beliefs facilitate paternal investment from multiple men and may reduce the risk of infanticide. In this comparative study of 128 lowland South American societies, the prevalence of partible paternity beliefs may be as much as two times as common as biologically correct beliefs in singular paternity. Partible paternity beliefs are nearly ubiquitous in four large language families—Carib, Pano, Tupi, and Macro-Je. Phylogenetic reconstruction suggests that partible paternity evolved deep in Amazonian prehistory at the root of a tentative Je-Carib-Tupi clade. Partible paternity often occurs with uxorilocal postmarital residence (males transfer), although there are exceptions. Partible paternity may have benefits for both sexes, especially in societies where essentially all offspring are said to have multiple fathers. Despite a decrease in paternity certainty, at least some men probably benefit (or mitigate costs) by increasing their number of extramarital partners, using sexual access to their wives to formalize male alliances, and/or sharing paternity with close kin. PMID:20974947

Fontanelles - excessively large

MedlinePlus

... Hydrocephalus Intrauterine growth retardation (IUGR) Premature birth Rarer causes: Achondroplasia Apert syndrome Cleidocranial dysostosis Congenital rubella Neonatal hypothyroidism Osteogenesis imperfecta Rickets When to Contact a Medical ...

Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae)

NASA Astrophysics Data System (ADS)

Kol-Maimon, Hofit; Mendel, Zvi; Franco, José Carlos; Ghanim, Murad

2014-10-01

Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, but not necessarily by any son, to the next generation. We employed crosses between two mealybug species— Planococcus ficus (Signoret) and Planococcus citri (Risso)—and between two populations of P. ficus, which differ in their mode of pheromone attraction, in order to demonstrate paternal inheritance from males to F2 through F1 male hybrids. Two traits were monitored through three generations: mode of male pheromone attraction (pherotype) and sequences of the internal transcribed spacer 2 (ITS2) gene segment (genotype). Our results demonstrate that paternal inheritance in mealybugs can occur from males to their F2 offspring, through F1 males (paternal line). F2 backcrossed hybrid males expressed paternal pherotypes and ITS2 genotypes although their mother originated through a maternal population. Further results revealed other, hitherto unknown, aspects of inheritance in mealybugs, such as that hybridization between the two species caused absence of paternal traits in F2 hybrid females produced by F1 hybrid females. Furthermore, hybridization between the two species raised the question of whether unattracted males have any role in the interactions between P. ficus and P. citri.

Influence of paternal age on perinatal outcomes.

PubMed

Hurley, Emily G; DeFranco, Emily A

2017-11-01

There is an increasing trend to delay childbearing to advanced parental age. Increased risks of advanced maternal age and assisted reproductive technologies are widely accepted. There are limited data regarding advanced paternal age. To adequately counsel patients on risk, more research regarding advanced paternal age is necessary. We sought to determine the influence of paternal age on perinatal outcomes, and to assess whether this influence differs between pregnancies achieved spontaneously and those achieved with assisted reproductive technology. A population-based retrospective cohort study of all live births in Ohio from 2006 through 2012 was completed. Data were evaluated to determine if advanced paternal age is associated with an increased risk of adverse outcomes in pregnancies. The analysis was stratified by status of utilization of assisted reproductive technology. Generalized linear regression models assessed the association of paternal age on pregnancy complications in assisted reproductive technology and spontaneously conceived pregnancies, after adjusting for maternal age, race, multifetal gestation, and Medicaid status, using Stata software (Stata, Release 12; StataCorp, College Station, TX). Paternal age was documented in 82.2% of 1,034,552 live births in Ohio during the 7-year study period. Paternal age ranged from 12-87 years, with a median of 30 (interquartile range, 26-35) years. Maternal age ranged from 11-62 years, with a median of 27 (interquartile range, 22-31) years. The use of assisted reproductive technology in live births increased as paternal age increased: 0.1% <30 years vs 2.5% >60 years, P < .001. After accounting for maternal age and other confounding risk factors, increased paternal age was not associated with a significant increase in the rate of preeclampsia, preterm birth, fetal growth restriction, congenital anomaly, genetic disorder, or neonatal intensive care unit admission. The influence of paternal age on pregnancy outcomes

[Influence of paternal age in schizophrenia].

PubMed

Hubert, A; Szöke, A; Leboyer, M; Schürhoff, F

2011-06-01

Schizophrenia is an aetiologically heterogeneous syndrome, with a strong genetic component. Despite a reduced fertility in this disorder, its prevalence is maintained and could be explained by de novo genetic mutations. Advanced paternal age (APA) is a major source of new mutations in human beings and could thus be associated with an increased risk of developing schizophrenia in offspring. New mutations related to APA have been implicated as a cause of sporadic cases in several autosomal dominant diseases and also in neurodevelopmental diseases, autism, intellectual disabilities, and social functioning. The aim of the present study was to summarize the results of studies investigating the role of APA, and to discuss some interpretations. All relevant studies were identified through the National Library of Medicine (PubMed(®) database). Keywords used for research were "age" and "schizophrenia" linked to "paternal or father". We have identified and analysed eight cohort studies, five case-control studies, two meta-analyses, and one review concerning different father's mutations potentially transmitted, two studies comparing paternal age at conception between sporadic versus familial cases of schizophrenia. All studies selected have been published between 2000 and 2009. After controlling for several confounding factors including maternal age, the relative risk of schizophrenia increased from 1.84 to 4.62 in offspring of fathers with an older age of fatherhood. Mother's age showed no significant effects after adjusting for paternal age. There was a significant association between paternal age and risk of developing schizophrenia, there was a weaker association with psychosis. The results of these different studies are confirmed by two recent meta-analyses which found an increased risk of schizophrenia in offspring of fathers older than 35 years. Two main hypotheses could explain these results. The first one is based on the presence of new mutations in the

Justification of Paternalism in Education.

ERIC Educational Resources Information Center

Nordenbo, Sven Erik

1986-01-01

A systematic presentation is given of the theories of justification normally applied to paternalistic acts: (1) pseudo-paternalism, (2) consequentialism, and (3) consent-based theories. The validity of four common arguments for educational paternalism is discussed: education is necessary, children are ignorant, children are unable to choose, and…

Paternal Psychiatric Symptoms and Maladaptive Paternal Behavior in the Home during the Child Rearing Years

ERIC Educational Resources Information Center

Johnson, Jeffrey G.; Cohen, Patricia; Kasen, Stephanie; Brook, Judith S.

2004-01-01

Data from the Children in the Community Study, a community-based longitudinal study were used to investigate associations between paternal psychiatric disorders and child-rearing behaviors. Paternal psychiatric symptoms and behavior in the home were assessed among 782 families during the childhood and adolescence of the offspring. Paternal…

Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.

PubMed

Dietze, Ilona; Fritz, Barbara; Huhle, Dagmar; Simoens, Wouter; Piecha, Ernestine; Rehder, Helga

2004-01-01

Wolf-Hirschhorn (4p-) syndrome (WHS), caused by partial deletion of the short arm of chromosome 4, has been extensively described in children and young adults. Knowledge on fetuses with WHS is still limited due to the small number of published cases. We report on a fetus with prenatally diagnosed severe intrauterine growth retardation, reduced thoracal diameter, clubfeet deformity and midface hypoplasia including slight microretrognathia indicative for fetal karyotyping. Chromosome analysis after amniocentesis revealed a de novo terminal deletion of chromosome 4p [karyotype: 46,XX,del(4) (p16)] which was confirmed by FISH. Analyses of a set of polymorphic markers mapping in 4pter->4p15.3 showed absence of paternal haplotypes. These observations corroborate the preferential paternal origin of the de novo 4p deletion in WHS patients. Furthermore, the distal breakpoint could be narrowed to band 4p16.1. At autopsy, the fetus showed typical craniofacial dysmorphic signs of WHS, severe IUGR and delayed bone age. This report suggests the possibility of recognising the particular phenotype of WHS in utero by prenatal ultrasound and emphasises the importance of karyotyping fetuses with severe IUGR, especially when the amount of amniotic fluid is normal. Copyright 2004 S. Karger AG, Basel

Sperm competition mechanisms, confidence of paternity, and the evolution of paternal care in the golden egg bug (Phyllomorpha laciniata).

PubMed

García-González, Francisco; Núñez, Yolanda; Ponz, Fernando; Roldán, Eduardo R S; Gomendio, Montserrat

2003-05-01

Theoretical models predict how paternal effort should vary depending on confidence of paternity and on the trade-offs between present and future reproduction. In this study we examine patterns of sperm precedence in Phyllomorpha laciniata and how confidence of paternity influences the willingness of males to carry eggs. Female golden egg bugs show a flexible pattern of oviposition behavior, which results in some eggs being carried by adults (mainly males) and some being laid on plants, where mortality rates are very high. Adults are more vulnerable to predators when carrying eggs; thus, it has been suggested that males should only accept eggs if there are chances that at least some of the eggs will be their true genetic offspring. We determined the confidence of paternity for naturally occurring individuals and its variation with the time. Paternity of eggs fertilized by the last males to mate with females previously mated in the field has been determined using amplified fragment length polymorphisms (AFLPs). The exclusion probability was 98%, showing that AFLP markers are suitable for paternity assignment. Sperm mixing seems the most likely mechanism of sperm competition, because the last male to copulate with field females sires an average of 43% of the eggs laid during the next five days. More importantly, the proportion of eggs sired does not change significantly during that period. We argue that intermediate levels of paternity can select for paternal care in this system because: (1) benefits of care in terms of offspring survival are very high; (2) males have nothing to gain from decreasing their parental effort in a given reproductive event because sperm mixing makes it difficult for males to reach high paternity levels and males are left with no cues to assess paternity; (3) males cannot chose to care for their offspring exclusively because they can neither discriminate their own eggs, nor can they predict when their own eggs will be produced; and (4) males

Paternal Antisocial Behavior (But Not Paternal ADHD) Is Associated With Negative Parenting and Child Conduct Problems.

PubMed

LeMoine, Kaitlyn A; Romirowsky, Abigail M; Woods, Kelsey E; Chronis-Tuscano, Andrea

2015-09-23

Parental psychopathology and parenting quality robustly predict negative outcomes among children with ADHD. Little research has investigated associations between paternal ADHD symptoms and parenting, though there is clear evidence linking maternal ADHD symptoms with both suboptimal parenting and child conduct problems, and considerable research supporting fathers' significant contributions to their children's development. This cross-sectional study examined psychopathology and parenting in a sample of fathers (N = 102) and their 5- to 12-year-old children with previously diagnosed ADHD. Results suggested that paternal antisocial personality disorder (ASPD) symptoms (rather than ADHD symptoms) were robustly associated with child conduct problems, with an indirect effect through paternal negative parenting. This study suggests that negative parenting may be a potential mechanism by which paternal ASPD is associated with child conduct problems, and demonstrates the importance of considering co-occurring psychopathology in research examining adult ADHD, parenting, and child outcomes. © The Author(s) 2015.

Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.

PubMed

Cardarelli, Laura; Sparago, Angela; De Crescenzo, Agostina; Nalesso, Elisa; Zavan, Barbara; Cubellis, Maria Vittoria; Selicorni, Angelo; Cavicchioli, Paola; Pozzan, Giovanni Battista; Petrella, Marilena; Riccio, Andrea

2010-01-01

Genomic imprinting is an epigenetic phenomenon resulting in differential expression of maternal and paternal alleles of a subset of genes. In the mouse, mutation of imprinted genes often results in contrasting phenotypes, depending on parental origin. The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the growth restriction-associated Silver-Russell syndrome (SRS) have been linked with a variety of epigenetic and genetic defects affecting a cluster of imprinted genes at chromosome 11p15.5. Paternally derived and maternally derived 11p15.5 duplications represent infrequent findings in BWS and SRS, respectively. Here, we report a case in which a 6.5 Mb duplication of 11p15.4-pter resulted in SRS and BWS phenotypes in a child and her mother, respectively. Molecular analyses demonstrated that the duplication involved the maternal chromosome 11p15 in the child and the paternal chromosome 11p15 in the mother. This observation provides a direct demonstration that SRS and BWS represent specular images, both at the clinical and molecular levels.

Craniofacial reconstruction - series (image)

MedlinePlus

Patients requiring craniofacial reconstruction have: birth defects (such as hypertelorism, Crouzon's disease, Apert's syndrome) injuries to the head, face, or jaws (maxillofacial) tumors deformities caused by treatments of tumors

Prader-Willi Syndrome: Intellectual Abilities and Behavioural Features by Genetic Subtype

ERIC Educational Resources Information Center

Milner, Katja M.; Craig, Ellen E.; Thompson, Russell J.; Veltman, Marijcke W. M.; Simon Thomas, N.; Roberts, Sian; Bellamy, Margaret; Curran, Sarah R.; Sporikou, Caroline M. J.; Bolton, Patrick F.

2005-01-01

Background: Studies of chromosome 15 abnormality have implicated over-expression of paternally imprinted genes in the 15q11-13 region in the aetiology of autism. To test this hypothesis we compared individuals with Prader-Willi syndrome (PWS) due to uniparental disomy (UPD--where paternally imprinted genes are over-expressed) to individuals with…

Addressing policy barriers to paternal involvement during pregnancy.

PubMed

Alio, Amina P; Bond, M Jermane; Padilla, Yolanda C; Heidelbaugh, Joel J; Lu, Michael; Parker, Willie J

2011-05-01

Efforts to reduce infant mortality in the United States have failed to incorporate paternal involvement. Research suggests that paternal involvement, which has been recognized as contributing to child development and health for many decades, is likely to affect infant mortality through the mother's well-being, primarily her access to resources and support. In spite of that, systemic barriers facing the father and the influence on his involvement in the pregnancy have received little attention. The Commission on Paternal Involvement in Pregnancy Outcomes (CPIPO) has identified the most important social barriers to paternal involvement during pregnancy and outlined a set of key policy priorities aimed at fostering paternal involvement. This article summarizes the key recommendations, including equitable paternity leave, elimination of marriage as a tax and public assistance penalty, integration of fatherhood initiatives in MCH programs, support of low-income fathers through employment training, father inclusion in family planning services, and expansion of birth data collection to include father information.

Paternity leave experiences of NHS doctors.

PubMed

Gordon, Hannah; Szram, Joanna

2013-10-01

This study assesses NHS doctors' experiences of paternity leave and evaluates whether practices have changed since the introduction of additional paternity leave (APL) in April 2011. An anonymised online survey designed to discover experiences and uptake of APL and ordinary paternity leave (OPL) was distributed to all members of the London Deanery Synapse® network. In total, 364 fathers responded. Their seniority ranged from foundation trainees to consultants. Following the formal introduction of OPL in 2003, the number of fathers taking any paternity leave increased (from 50% to 95.6%). The majority of respondents (76.7%) felt well supported by their employer. Since the introduction of APL, 3% of respondents took additional leave. Reasons for the low uptake of APL included the impracticalities of the law, poor awareness and perceived attitudes and implications for training. Problems with OPL included the inadequate provision of cover and difficulties in timing the leave appropriately.

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

PubMed

Duker, Angela L; Ballif, Blake C; Bawle, Erawati V; Person, Richard E; Mahadevan, Sangeetha; Alliman, Sarah; Thompson, Regina; Traylor, Ryan; Bejjani, Bassem A; Shaffer, Lisa G; Rosenfeld, Jill A; Lamb, Allen N; Sahoo, Trilochan

2010-11-01

Prader-Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy, followed by morbid obesity secondary to hyperphagia. It is caused by deficiency of paternally expressed transcript(s) within the human chromosome region 15q11.2. PWS patients harboring balanced chromosomal translocations with breakpoints within small nuclear ribonucleoprotein polypeptide N (SNRPN) have provided indirect evidence for a role for the imprinted C/D box containing small nucleolar RNA (snoRNA) genes encoded downstream of SNRPN. In addition, recently published data provide strong evidence in support of a role for the snoRNA SNORD116 cluster (HBII-85) in PWS etiology. In this study, we performed detailed phenotypic, cytogenetic, and molecular analyses including chromosome analysis, array comparative genomic hybridization (array CGH), expression studies, and single-nucleotide polymorphism (SNP) genotyping for parent-of-origin determination of the 15q11.2 microdeletion on an 11-year-old child expressing the major components of the PWS phenotype. This child had an ∼236.29 kb microdeletion at 15q11.2 within the larger Prader-Willi/Angelman syndrome critical region that included the SNORD116 cluster of snoRNAs. Analysis of SNP genotypes in proband and mother provided evidence in support of the deletion being on the paternal chromosome 15. This child also met most of the major PWS diagnostic criteria including infantile hypotonia, early-onset morbid obesity, and hypogonadism. Identification and characterization of this case provide unequivocal evidence for a critical role for the SNORD116 snoRNA molecules in PWS pathogenesis. Array CGH testing for genomic copy-number changes in cases with complex phenotypes is proving to be invaluable in detecting novel alterations and enabling better genotype-phenotype correlations.

A new deletion refines the boundaries of the murine Prader–Willi syndrome imprinting center

PubMed Central

DuBose, Amanda J.; Smith, Emily Y.; Yang, Thomas P.; Johnstone, Karen A.; Resnick, James L.

2011-01-01

The human chromosomal 15q11–15q13 region is subject to both maternal and paternal genomic imprinting. Absence of paternal gene expression from this region results in Prader–Willi syndrome (PWS), while absence of maternal gene expression leads to Angelman syndrome. Transcription of paternally expressed genes in the region depends upon an imprinting center termed the PWS-IC. Imprinting defects in PWS can be caused by microdeletions and the smallest commonly deleted region indicates that the PWS-IC lies within a region of 4.3 kb. The function and location of the PWS-IC is evolutionarily conserved, but delineation of the PWS-IC in mouse has proven difficult. The first targeted mutation of the PWS-IC, a deletion of 35 kb spanning Snrpn exon 1, exhibited a complete PWS-IC deletion phenotype. Pups inheriting this mutation paternally showed a complete loss of paternal gene expression and died neonatally. A reported deletion of 4.8 kb showed only a reduction in paternal gene expression and incomplete penetrance of neonatal lethality, suggesting that some PWS-IC function had been retained. Here, we report that a 6 kb deletion spanning Snrpn exon 1 exhibits a complete PWS-IC deletion phenotype. Pups inheriting this mutation paternally lack detectable expression of all PWS genes and paternal silencing of Ube3a, exhibit maternal DNA methylation imprints at Ndn and Mkrn3 and suffer failure to thrive leading to a fully penetrant neonatal lethality. PMID:21659337

A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center.

PubMed

Dubose, Amanda J; Smith, Emily Y; Yang, Thomas P; Johnstone, Karen A; Resnick, James L

2011-09-01

The human chromosomal 15q11-15q13 region is subject to both maternal and paternal genomic imprinting. Absence of paternal gene expression from this region results in Prader-Willi syndrome (PWS), while absence of maternal gene expression leads to Angelman syndrome. Transcription of paternally expressed genes in the region depends upon an imprinting center termed the PWS-IC. Imprinting defects in PWS can be caused by microdeletions and the smallest commonly deleted region indicates that the PWS-IC lies within a region of 4.3 kb. The function and location of the PWS-IC is evolutionarily conserved, but delineation of the PWS-IC in mouse has proven difficult. The first targeted mutation of the PWS-IC, a deletion of 35 kb spanning Snrpn exon 1, exhibited a complete PWS-IC deletion phenotype. Pups inheriting this mutation paternally showed a complete loss of paternal gene expression and died neonatally. A reported deletion of 4.8 kb showed only a reduction in paternal gene expression and incomplete penetrance of neonatal lethality, suggesting that some PWS-IC function had been retained. Here, we report that a 6 kb deletion spanning Snrpn exon 1 exhibits a complete PWS-IC deletion phenotype. Pups inheriting this mutation paternally lack detectable expression of all PWS genes and paternal silencing of Ube3a, exhibit maternal DNA methylation imprints at Ndn and Mkrn3 and suffer failure to thrive leading to a fully penetrant neonatal lethality.

Maternal modulation of paternal effects on offspring development

PubMed Central

Habrylo, Ireneusz B.; Gudsnuk, Kathryn M.; Pelle, Geralyn; Champagne, Frances A.

2018-01-01

The paternal transmission of environmentally induced phenotypes across generations has been reported to occur following a number of qualitatively different exposures and appear to be driven, at least in part, by epigenetic factors that are inherited via the sperm. However, previous studies of paternal germline transmission have not addressed the role of mothers in the propagation of paternal effects to offspring. We hypothesized that paternal exposure to nutritional restriction would impact male mate quality and subsequent maternal reproductive investment with consequences for the transmission of paternal germline effects. In the current report, using embryo transfer in mice, we demonstrate that sperm factors in adult food restricted males can influence growth rate, hypothalamic gene expression and behaviour in female offspring. However, under natural mating conditions females mated with food restricted males show increased pre- and postnatal care, and phenotypic outcomes observed during embryo transfer conditions are absent or reversed. We demonstrate that these compensatory changes in maternal investment are associated with a reduced mate preference for food restricted males and elevated gene expression within the maternal hypothalamus. Therefore, paternal experience can influence offspring development via germline inheritance, but mothers can serve as a modulating factor in determining the impact of paternal influences on offspring development. PMID:29514964

Maternal modulation of paternal effects on offspring development.

PubMed

Mashoodh, Rahia; Habrylo, Ireneusz B; Gudsnuk, Kathryn M; Pelle, Geralyn; Champagne, Frances A

2018-03-14

The paternal transmission of environmentally induced phenotypes across generations has been reported to occur following a number of qualitatively different exposures and appear to be driven, at least in part, by epigenetic factors that are inherited via the sperm. However, previous studies of paternal germline transmission have not addressed the role of mothers in the propagation of paternal effects to offspring. We hypothesized that paternal exposure to nutritional restriction would impact male mate quality and subsequent maternal reproductive investment with consequences for the transmission of paternal germline effects. In the current report, using embryo transfer in mice, we demonstrate that sperm factors in adult food restricted males can influence growth rate, hypothalamic gene expression and behaviour in female offspring. However, under natural mating conditions females mated with food restricted males show increased pre- and postnatal care, and phenotypic outcomes observed during embryo transfer conditions are absent or reversed. We demonstrate that these compensatory changes in maternal investment are associated with a reduced mate preference for food restricted males and elevated gene expression within the maternal hypothalamus. Therefore, paternal experience can influence offspring development via germline inheritance, but mothers can serve as a modulating factor in determining the impact of paternal influences on offspring development. © 2018 The Author(s).

From here to paternity: neural correlates of the onset of paternal behavior in California mice (Peromyscus californicus).

PubMed

de Jong, Trynke R; Chauke, Miyetani; Harris, Breanna N; Saltzman, Wendy

2009-08-01

In a minority of mammalian species, including humans, fathers play a significant role in infant care. Compared to maternal behavior, the neural and hormonal bases of paternal care are poorly understood. We analyzed behavioral, neuronal and neuropeptide responses towards unfamiliar pups in biparental California mice, comparing males housed with another male ("virgin males") or with a female before ("paired males") or after ("new fathers") the birth of their first litter. New fathers approached pups more rapidly and spent more time engaging in paternal behavior than virgin males. In each cage housing two virgin males, one was spontaneously paternal and one was not. New fathers and paired males spent more time sniffing and touching a wire mesh ball containing a newborn pup than virgin males. Only new fathers showed significantly increased Fos-like immunoreactivity in the medial preoptic nucleus (MPO) following exposure to a pup-containing ball, as compared to an empty ball. Moreover, Fos-LIR in the bed nucleus of the stria terminalis (STMV and STMPM) and caudal dorsal raphe nucleus (DRC) was increased in new fathers, independent of test condition. No differences were found among the groups in Fos-LIR in oxytocinergic or vasopressinergic neurons. These results suggest that sexual and paternal experiences facilitate paternal behavior, but other cues play a role as well. Paternal experience increases Fos-LIR induced by distal pup cues in the MPO, but not in oxytocin and vasopressin neurons. Fatherhood also appears to alter neurotransmission in the BNST and DRC, regions implicated in emotionality and stress-responsiveness.

Avian paternal care had dinosaur origin.

PubMed

Varricchio, David J; Moore, Jason R; Erickson, Gregory M; Norell, Mark A; Jackson, Frankie D; Borkowski, John J

2008-12-19

The repeated discovery of adult dinosaurs in close association with egg clutches leads to speculation over the type and extent of care exhibited by these extinct animals for their eggs and young. To assess parental care in Cretaceous troodontid and oviraptorid dinosaurs, we examined clutch volume and the bone histology of brooding adults. In comparison to four archosaur care regressions, the relatively large clutch volumes of Troodon, Oviraptor, and Citipati scale most closely with a bird-paternal care model. Clutch-associated adults lack the maternal and reproductively associated histologic features common to extant archosaurs. Large clutch volumes and a suite of reproductive features shared only with birds favor paternal care, possibly within a polygamous mating system. Paternal care in both troodontids and oviraptorids indicates that this care system evolved before the emergence of birds and represents birds' ancestral condition. In extant birds and over most adult sizes, paternal and biparental care correspond to the largest and smallest relative clutch volumes, respectively.

Paternal age at childbirth and eating disorders in offspring.

PubMed

Javaras, K N; Rickert, M E; Thornton, L M; Peat, C M; Baker, J H; Birgegård, A; Norring, C; Landén, M; Almqvist, C; Larsson, H; Lichtenstein, P; Bulik, C M; D'Onofrio, B M

2017-02-01

Advanced paternal age at childbirth is associated with psychiatric disorders in offspring, including schizophrenia, bipolar disorder and autism. However, few studies have investigated paternal age's relationship with eating disorders in offspring. In a large, population-based cohort, we examined the association between paternal age and offspring eating disorders, and whether that association remains after adjustment for potential confounders (e.g. parental education level) that may be related to late/early selection into fatherhood and to eating disorder incidence. Data for 2 276 809 individuals born in Sweden 1979-2001 were extracted from Swedish population and healthcare registers. The authors used Cox proportional hazards models to examine the effect of paternal age on the first incidence of healthcare-recorded anorexia nervosa (AN) and all eating disorders (AED) occurring 1987-2009. Models were adjusted for sex, birth order, maternal age at childbirth, and maternal and paternal covariates including country of birth, highest education level, and lifetime psychiatric and criminal history. Even after adjustment for covariates including maternal age, advanced paternal age was associated with increased risk, and younger paternal age with decreased risk, of AN and AED. For example, the fully adjusted hazard ratio for the 45+ years (v. the 25-29 years) paternal age category was 1.32 [95% confidence interval (CI) 1.14-1.53] for AN and 1.26 (95% CI 1.13-1.40) for AED. In this large, population-based cohort, paternal age at childbirth was positively associated with eating disorders in offspring, even after adjustment for potential confounders. Future research should further explore potential explanations for the association, including de novo mutations in the paternal germline.

Paternal Age Alters Social Development in Offspring.

PubMed

Janecka, Magdalena; Haworth, Claire M A; Ronald, Angelica; Krapohl, Eva; Happé, Francesca; Mill, Jonathan; Schalkwyk, Leonard C; Fernandes, Cathy; Reichenberg, Abraham; Rijsdijk, Frühling

2017-05-01

Advanced paternal age (APA) at conception has been linked with autism and schizophrenia in offspring, neurodevelopmental disorders that affect social functioning. The current study explored the effects of paternal age on social development in the general population. We used multilevel growth modeling to investigate APA effects on socioemotional development from early childhood until adolescence, as measured by the Strengths and Difficulties Questionnaire (SDQ) in the Twins Early Development Study (TEDS) sample. We also investigated genetic and environmental underpinnings of the paternal age effects on development, using the Additive genetics, Common environment, unique Environment (ACE) and gene-environment (GxE) models. In the general population, both very young and advanced paternal ages were associated with altered trajectory of social development (intercept: p = .01; slope: p = .03). No other behavioral domain was affected by either young or advanced age at fatherhood, suggesting specificity of paternal age effects. Increased importance of genetic factors in social development was recorded in the offspring of older but not very young fathers, suggesting distinct underpinnings of the paternal age effects at these two extremes. Our findings highlight that the APA-related deficits that lead to autism and schizophrenia are likely continuously distributed in the population. Copyright © 2017 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

Paternal Race/Ethnicity and Birth Outcomes

PubMed Central

2008-01-01

Objectives. I sought to identify whether there were associations between paternal race/ethnicity and birth outcomes among infants with parents of same- and mixed-races/ethnicities. Methods. Using the National Center for Health Statistics 2001 linked birth and infant death file, I compared birth outcomes of infants of White mothers and fathers of different races/ethnicities by matching and weighting racial/ethnic groups following a propensity scoring approach so other characteristics were distributed identically. I applied the same analysis to infants of Black parents and infants with a Black mother and White father. Results. Variation in risk factors and outcomes was found in infants of White mothers by paternal race/ethnicity. After propensity score weighting, the disparities in outcomes by paternal or parental race/ethnicity could be largely attributed to nonracial parental characteristics. Infants whose paternal race/ethnicity was unreported on their birth certificates had the worst outcomes. Conclusions. The use of maternal race/ethnicity to refer to infant race/ethnicity in research is problematic. The effects of maternal race/ethnicity on birth outcomes are estimated to be much larger than that of paternal race/ethnicity after I controlled for all covariates. Not listing a father on the birth certificate had a strong association with outcomes, which might be a source of bias in existing data and a marker for identifying infants at risk. PMID:18445802

A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].

PubMed

Krajewska-Walasek, M; Gutkowska, A; Mospinek-Krasnopolska, M; Chrzanowska, K

1996-01-01

We present a new case of 11p15 duplication (trisomy 11p15) in a boy (46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)] suffering from Beckwith-Wiedemann syndrome (BWS), whose phenotypically normal father carries a balanced translocation between chromosomes 11 and 21[46,XY, t(11;21)(p15.2;q22.3)]. The paternal grandmother has the same balanced translocation and is also clinically normal. BWS was suspected when the boy was 6 months old because of gigantism, macroglossia, visceromegaly, ear lobe creases and abdominal distention. Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental retardation). So far, at least eight cases of 11p15 duplication have been described as patients with BWS. In six of these, the duplication was due to inheritance of a translocated or rearranged paternal chromosome. This was also the case in our patient. In the two other previously published cases, the 11p15 duplications were de novo, but in one of these, DNA analysis has subsequently shown that the duplication was of paternal origin. We discuss our observations in relation to the above-mentioned previous cases of 11p15 duplication and the possible role of genomic imprinting in the etiology of BWS.

Mitochondrial endonuclease G mediates breakdown of paternal mitochondria upon fertilization.

PubMed

Zhou, Qinghua; Li, Haimin; Li, Hanzeng; Nakagawa, Akihisa; Lin, Jason L J; Lee, Eui-Seung; Harry, Brian L; Skeen-Gaar, Riley Robert; Suehiro, Yuji; William, Donna; Mitani, Shohei; Yuan, Hanna S; Kang, Byung-Ho; Xue, Ding

2016-07-22

Mitochondria are inherited maternally in most animals, but the mechanisms of selective paternal mitochondrial elimination (PME) are unknown. While examining fertilization in Caenorhabditis elegans, we observed that paternal mitochondria rapidly lose their inner membrane integrity. CPS-6, a mitochondrial endonuclease G, serves as a paternal mitochondrial factor that is critical for PME. We found that CPS-6 relocates from the intermembrane space of paternal mitochondria to the matrix after fertilization to degrade mitochondrial DNA. It acts with maternal autophagy and proteasome machineries to promote PME. Loss of cps-6 delays breakdown of mitochondrial inner membranes, autophagosome enclosure of paternal mitochondria, and PME. Delayed removal of paternal mitochondria causes increased embryonic lethality, demonstrating that PME is important for normal animal development. Thus, CPS-6 functions as a paternal mitochondrial degradation factor during animal development. Copyright © 2016, American Association for the Advancement of Science.

Genotype Reconstruction of Paternity in European Lobsters (Homarus gammarus).

PubMed

Ellis, Charlie D; Hodgson, David J; André, Carl; Sørdalen, Tonje K; Knutsen, Halvor; Griffiths, Amber G F

2015-01-01

Decapod crustaceans exhibit considerable variation in fertilisation strategies, ranging from pervasive single paternity to the near-ubiquitous presence of multiple paternity, and such knowledge of mating systems and behaviour are required for the informed management of commercially-exploited marine fisheries. We used genetic markers to assess the paternity of individual broods in the European lobster, Homarus gammarus, a species for which paternity structure is unknown. Using 13 multiplexed microsatellite loci, three of which are newly described in this study, we genotyped 10 eggs from each of 34 females collected from an Atlantic peninsula in the south-western United Kingdom. Single reconstructed paternal genotypes explained all observed progeny genotypes in each of the 34 egg clutches, and each clutch was fertilised by a different male. Simulations indicated that the probability of detecting multiple paternity was in excess of 95% if secondary sires account for at least a quarter of the brood, and in excess of 99% where additional sire success was approximately equal. Our results show that multiple paternal fertilisations are either absent, unusual, or highly skewed in favour of a single male among H. gammarus in this area. Potential mechanisms upholding single paternal fertilisation are discussed, along with the prospective utility of parentage assignments in evaluations of hatchery stocking and other fishery conservation approaches in light of this finding.

Evolution and proximate expression of human paternal investment.

PubMed

Geary, D C

2000-01-01

In more than 95% of mammalian species, males provide little direct investment in the well-being of their offspring. Humans are one notable exception to this pattern and, to date, the factors that contributed to the evolution and the proximate expression of human paternal care are unexplained (T. H. Clutton-Brock, 1989). The nature, extent, and influence of human paternal investment on the physical and social well-being of children are reviewed in light of the social and ecological factors that are associated with paternal investment in other species. On the basis of this review, discussion of the evolution and proximate expression of human paternal investment is provided.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

PubMed Central

Buiting, K; Dittrich, B; Gross, S; Lich, C; Färber, C; Buchholz, T; Smith, E; Reis, A; Bürger, J; Nöthen, M M; Barth-Witte, U; Janssen, B; Abeliovich, D; Lerer, I; van den Ouweland, A M; Halley, D J; Schrander-Stumpel, C; Smeets, H; Meinecke, P; Malcolm, S; Gardner, A; Lalande, M; Nicholls, R D; Friend, K; Schulze, A; Matthijs, G; Kokkonen, H; Hilbert, P; Van Maldergem, L; Glover, G; Carbonell, P; Willems, P; Gillessen-Kaesbach, G; Horsthemke, B

1998-01-01

The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are caused by the loss of function of imprinted genes in proximal 15q. In approximately 2%-4% of patients, this loss of function is due to an imprinting defect. In some cases, the imprinting defect is the result of a parental imprint-switch failure caused by a microdeletion of the imprinting center (IC). Here we describe the molecular analysis of 13 PWS patients and 17 AS patients who have an imprinting defect but no IC deletion. Heteroduplex and partial sequence analysis did not reveal any point mutations of the known IC elements, either. Interestingly, all of these patients represent sporadic cases, and some share the paternal (PWS) or the maternal (AS) 15q11-q13 haplotype with an unaffected sib. In each of five PWS patients informative for the grandparental origin of the incorrectly imprinted chromosome region and four cases described elsewhere, the maternally imprinted paternal chromosome region was inherited from the paternal grandmother. This suggests that the grandmaternal imprint was not erased in the father's germ line. In seven informative AS patients reported here and in three previously reported patients, the paternally imprinted maternal chromosome region was inherited from either the maternal grandfather or the maternal grandmother. The latter finding is not compatible with an imprint-switch failure, but it suggests that a paternal imprint developed either in the maternal germ line or postzygotically. We conclude (1) that the incorrect imprint in non-IC-deletion cases is the result of a spontaneous prezygotic or postzygotic error, (2) that these cases have a low recurrence risk, and (3) that the paternal imprint may be the default imprint. PMID:9634532

Paternal epigenetic programming: evolving metabolic disease risk.

PubMed

Hur, Suzy S J; Cropley, Jennifer E; Suter, Catherine M

2017-04-01

Parental health or exposures can affect the lifetime health outcomes of offspring, independently of inherited genotypes. Such 'epigenetic' effects occur over a broad range of environmental stressors, including defects in parental metabolism. Although maternal metabolic effects are well documented, it has only recently been established that that there is also an independent paternal contribution to long-term metabolic health. Both paternal undernutrition and overnutrition can induce metabolic phenotypes in immediate offspring, and in some cases, the induced phenotype can affect multiple generations, implying inheritance of an acquired trait. The male lineage transmission of metabolic disease risk in these cases implicates a heritable factor carried by sperm. Sperm-based transmission provides a tractable system to interrogate heritable epigenetic factors influencing metabolism, and as detailed here, animal models of paternal programming have already provided some significant insights. Here, we review the evidence for paternal programming of metabolism in humans and animal models, and the available evidence on potential underlying mechanisms. Programming by paternal metabolism can be observed in multiple species across animal phyla, suggesting that this phenomenon may have a unique evolutionary significance. © 2017 Society for Endocrinology.

The impact of paternity leave on fathers' future earnings.

PubMed

Rege, Mari; Solli, Ingeborg F

2013-12-01

Using Norwegian registry data, we investigate the effect of paternity leave on fathers' long-term earnings. If the paternity leave increased long-term father involvement, then we should expect a reduction in fathers' long-term earnings as they shift time and effort from market to home production. For identification, we use the Norwegian introduction of a paternity-leave quota in 1993, reserving four weeks of the total of 42 weeks of paid parental leave exclusively for the father. The introduction of the paternity-leave quota led to a sharp increase in rates of leave-taking for fathers. We estimate a difference-in-differences model that exploits differences in fathers' exposure to the paternity-leave quota by the child's age and year of observation. Our analysis suggests that four weeks of paternity leave during the child's first year decreases fathers' future earnings, an effect that persists through our last point of observation, when the child is 5 years old. A battery of robustness tests supports our results.

Paternal nicotine exposure alters hepatic xenobiotic metabolism in offspring

PubMed Central

Vallaster, Markus P; Kukreja, Shweta; Bing, Xin Y; Ngolab, Jennifer; Zhao-Shea, Rubing; Gardner, Paul D; Tapper, Andrew R; Rando, Oliver J

2017-01-01

Paternal environmental conditions can influence phenotypes in future generations, but it is unclear whether offspring phenotypes represent specific responses to particular aspects of the paternal exposure history, or a generic response to paternal ‘quality of life’. Here, we establish a paternal effect model based on nicotine exposure in mice, enabling pharmacological interrogation of the specificity of the offspring response. Paternal exposure to nicotine prior to reproduction induced a broad protective response to multiple xenobiotics in male offspring. This effect manifested as increased survival following injection of toxic levels of either nicotine or cocaine, accompanied by hepatic upregulation of xenobiotic processing genes, and enhanced drug clearance. Surprisingly, this protective effect could also be induced by a nicotinic receptor antagonist, suggesting that xenobiotic exposure, rather than nicotinic receptor signaling, is responsible for programming offspring drug resistance. Thus, paternal drug exposure induces a protective phenotype in offspring by enhancing metabolic tolerance to xenobiotics. DOI: http://dx.doi.org/10.7554/eLife.24771.001 PMID:28196335

Prader-Willi syndrome.

PubMed

Cassidy, Suzanne B; Driscoll, Daniel J

2009-01-01

Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.

Maternal depression, paternal psychopathology, and adolescent diagnostic outcomes.

PubMed

Brennan, Patricia A; Hammen, Constance; Katz, Anna R; Le Brocque, Robyne M

2002-10-01

The authors examined the relationship between maternal depression, paternal psychopathology, and adolescent diagnostic outcomes in a community sample of 522 Australian families. They also examined whether chronic family stress, father's expressed emotion, and parents' marital satisfaction mediated the relationship between parental psychopathology and adolescent outcomes. Mother's education, child's gender, and family income were covaried in all analyses. Results revealed that maternal depression and paternal depression had an additive effect on youth externalizing disorders. In addition, maternal depression interacted with both paternal depression and paternal substance abuse in predicting youth depression but not youth nondepressive disorders. Chronic family stress and father's expressed emotion appeared to mediate the relationship between parental psychopathology and youth depression.

A defence of medical paternalism: maximising patients' autonomy.

PubMed Central

Komrad, M S

1983-01-01

All illness represents a state of diminished autonomy and therefore the doctor-patient relationship necessarily and justifiably involves a degree of medical paternalism argues the author, an American medical student. In a broad-ranging paper he discusses the concepts of autonomy and paternalism in the context of the doctor-patient relationship. Given the necessary diminution of autonomy which illness inflicts, a limited form of medical paternalism, aimed at restoring or maximising the patient's autonomy is entirely acceptable, and indeed fundamental to the relationship he argues. However, the exercise of this paternalism should be flexible and related to the current 'level of autonomy' of the patient himself. An editorial in this issue comments briefly on this paper. PMID:6834402

The effect of paternal age on assisted reproduction outcome.

PubMed

Dain, Lena; Auslander, Ron; Dirnfeld, Martha

2011-01-01

To summarize the current knowledge about the association between paternal age and assisted reproductive technology (ART) outcomes. In contrast to the extensive investigation of the relationship between maternal age and the success of ART, there are few studies examining the effect of paternal age on ART outcomes. Systematic review of the literature. By means of a PubMed literature search using the phrases "paternal age", "male age", and "assisted reproductive technology", we identified articles that investigated the role of male age in in vitro reproduction techniques. The 10 studies included in this review did not show a clear correlation between advanced paternal age and rates of fertilization, implantation, pregnancy, miscarriage, and live birth. Paternal age was not found to affect embryo quality at the cleavage stage (days 2-3). However, a significant decrease in blastocyst embryo formation was associated with increased paternal age, probably reflecting male genomic activation within the embryo. Except for volume, characteristics of semen such as motility, concentration, and morphology did not decrease with age. There is insufficient evidence to demonstrate an unfavorable effect of paternal age on ART outcomes. Further study with well-defined entry criteria and uniform reporting of outcomes is needed to investigate the subject. Copyright © 2011. Published by Elsevier Inc.

Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis.

PubMed

Maliepaard, Marianne; Mathijssen, Irene M J; Oosterlaan, Jaap; Okkerse, Jolanda M E

2014-06-01

To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ < 85) compared with the normative population (P < .001) and had more behavioral and emotional problems compared with the normative population, including higher scores on the CBCL/6-18, DBD Total Problems (P < .001), Internalizing (P < .01), social problems (P < .001), attention problems (P < .001), and the DBD Inattention (P < .001). Children who have Apert syndrome had lower FSIQs (M = 76.7; SD = 13.3) and children who have Muenke syndrome had more social problems (P < .01), attention problems (P < .05), and inattention problems (P < .01) than normative population and with other diagnostic subgroups. Although children who have syndromic craniosynostosis have FSIQs similar to the normative population, they are at increased risk for developing intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning.

Genetics Home Reference: Apert syndrome

MedlinePlus

... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

Guide to Understanding Apert Syndrome

MedlinePlus

... with the physician prior to and throughout treatment. Design and Production by Robin Williamson, Williamson Creative Services, Inc., Carrollton, TX. © 2005 Children’s Craniofacial Association, Dallas, ...

Paternal Metabolic and Cardiovascular Risk Factors for Fetal Growth Restriction

PubMed Central

Hillman, Sara; Peebles, Donald M.; Williams, David J.

2013-01-01

OBJECTIVE Fathers of low–birth weight offspring are more likely to have type 2 diabetes and cardiovascular disease in later life. We investigated whether paternal insulin resistance and cardiovascular risk factors were evident at the time that fetal growth–restricted offspring were born. RESEARCH DESIGN AND METHODS We carried out a case-control study of men who fathered pregnancies affected by fetal growth restriction, in the absence of recognized fetal disease (n = 42), compared with men who fathered normal–birth weight offspring (n = 77). All mothers were healthy, nonsmoking, and similar in age, BMI, ethnicity, and parity. Within 4 weeks of offspring birth, all fathers had measures of insulin resistance (HOMA index), blood pressure, waist circumference, endothelial function (flow-mediated dilatation), lipid profile, weight, and smoking habit. Comparison was made using multivariable logistical regression analysis. RESULTS Fathers of fetal growth–restricted offspring [mean (SD) 1.8th (2.2) customized birth centile] were more likely to have insulin resistance, hypertension, central adiposity, and endothelial dysfunction and to smoke cigarettes compared with fathers of normal grown offspring. After multivariable analysis, paternal insulin resistance and smoking remained different between the groups. Compared with fathers of normal grown offspring, men who fathered pregnancies affected by fetal growth restriction had an OR 7.68 (95% CI 2.63–22.40; P < 0.0001) of having a 1-unit higher log HOMA-IR value and 3.39 (1.26–9.16; P = 0.016) of being a smoker. CONCLUSIONS Men who recently fathered growth-restricted offspring have preclinical evidence of the insulin resistance syndrome and are more likely to smoke than fathers of normal grown offspring. Paternal lifestyle may influence heritable factors important for fetal growth. PMID:23315598

Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort.

PubMed

Feinberg, Jason I; Bakulski, Kelly M; Jaffe, Andrew E; Tryggvadottir, Rakel; Brown, Shannon C; Goldman, Lynn R; Croen, Lisa A; Hertz-Picciotto, Irva; Newschaffer, Craig J; Fallin, M Daniele; Feinberg, Andrew P

2015-08-01

Epigenetic mechanisms such as altered DNA methylation have been suggested to play a role in autism, beginning with the classical association of Prader-Willi syndrome, an imprinting disorder, with autistic features. Here we tested for the relationship of paternal sperm DNA methylation with autism risk in offspring, examining an enriched-risk cohort of fathers of autistic children. We examined genome-wide DNA methylation (DNAm) in paternal semen biosamples obtained from an autism spectrum disorder (ASD) enriched-risk pregnancy cohort, the Early Autism Risk Longitudinal Investigation (EARLI) cohort, to estimate associations between sperm DNAm and prospective ASD development, using a 12-month ASD symptoms assessment, the Autism Observation Scale for Infants (AOSI). We analysed methylation data from 44 sperm samples run on the CHARM 3.0 array, which contains over 4 million probes (over 7 million CpG sites), including 30 samples also run on the Illumina Infinium HumanMethylation450 (450K) BeadChip platform (∼485 000 CpG sites). We also examined associated regions in an independent sample of post-mortem human brain ASD and control samples for which Illumina 450K DNA methylation data were available. Using region-based statistical approaches, we identified 193 differentially methylated regions (DMRs) in paternal sperm with a family-wise empirical P-value [family-wise error rate (FWER)] <0.05 associated with performance on the Autism Observational Scale for Infants (AOSI) at 12 months of age in offspring. The DMRs clustered near genes involved in developmental processes, including many genes in the SNORD family, within the Prader-Willi syndrome gene cluster. These results were consistent among the 75 probes on the Illumina 450K array that cover AOSI-associated DMRs from CHARM. Further, 18 of 75 (24%) 450K array probes showed consistent differences in the cerebellums of autistic individuals compared with controls. These data suggest that epigenetic differences in paternal

Colour bands, mate choice and paternity in the bluethroat.

PubMed

Johnsen; Fiske; Amundsen; Lifjeld; Rohde

2000-01-01

Studies of several bird species have shown that coloured leg bands may affect a male's success in mate attraction and/or mating competition. From a colour band experiment in the field, we have previously reported that male bluethroats, Luscinia s. svecica, with blue and orange bands (BO males) guarded their mates less intensely at the peak of female fertility, and spent more time advertising for additional mates, than males banded with non-BO colours. These responses indicated that BO males experienced less threat to their paternity than did non-BO males, possibly mediated through an increased attractiveness. Here we present paternity analyses of the broods from the field study and test whether there were differences between the two male groups in within-pair or extrapair paternity. There were no significant differences between the two groups of males in paternity, suggesting effective male protection of paternity. However, extrapair paternity was infrequent in the 2 years of the field experiment; hence, the power in detecting effects on paternity does not allow a definitive conclusion on this issue. We also conducted an aviary experiment in which females were given the choice between a BO male and a non-BO male, to test whether females had preferences for particular colour bands. Females did not associate more with BO males, as would have been expected if these males were more attractive in social mate choice. Our results suggest that the effects of colour bands on social mate choice and paternity are, at best, weak. Copyright 2000 The Association for the Study of Animal Behaviour.

Long-term consequences for offspring of paternal diabetes and metabolic syndrome.

PubMed

Linares Segovia, Benigno; Gutiérrez Tinoco, Maximiliano; Izquierdo Arrizon, Angeles; Guízar Mendoza, Juan Manuel; Amador Licona, Norma

2012-01-01

Recent studies have reported an increase in the prevalence of obesity and metabolic syndrome in children and adolescents. However, few have focused how diabetes mellitus and metabolic syndrome together in parents can influence on obesity and metabolic disturbances in offspring. To know the risk obesity and metabolic disturbance in children, adolescents, and young adults whose parents have diabetes mellitus and metabolic syndrome. A comparative survey was made in healthy children of parents with diabetes mellitus and metabolic syndrome compared with offspring of healthy parents. We performed anthropometry and evaluated blood pressure, glucose, total cholesterol, HDL cholesterol, and triglycerides levels in plasma. We registered parent antecedents to diabetes mellitus and metabolic syndrome and investigated the prevalence of overweight, obesity, and metabolic disturbances in offspring. We studied 259 subjects of 7 to 20 years of age. The prevalence of overweight and obesity was 27% and 37%, respectively. The highest proportion of BMI >95th of the entire group was found in offspring with both diabetic parents. Glucose and total cholesterol levels were lower in the group with healthy parents compared with the group with diabetic mother and metabolic syndrome but with healthy father. HDL cholesterol was higher in the group with both healthy parents than in the group with diabetic mother and metabolic syndrome but healthy father. The offspring of parents with diabetes plus metabolic syndrome showed higher proportion of variables related to metabolic syndrome compared with healthy parents.

Risk factors for paternal physical child abuse.

PubMed

Lee, Shawna J; Guterman, Neil B; Lee, Yookyong

2008-09-01

This study uses the developmental-ecological framework to examine a comprehensive set of paternal factors hypothesized to be linked to risk for paternal child abuse (PCA) among a diverse sample of fathers. Attention was given to fathers' marital status and their race/ethnicity (White, African American, and Hispanic). Interviews were conducted with 1257 married or cohabiting biological fathers who participated in the Fragile Families and Child Wellbeing Study. PCA was assessed when the index children were 3 years old. Analyses included a comprehensive set of self-reported paternal variables as well as controls for maternal variables linked to child maltreatment. PCA was measured using proxy variables: two questions assessing the frequency of spanking in the past month and Parent-Child Conflict Tactics Scales (CTS-PC) [Straus, M., Hamby, S., Finkelhor, D., Moore, D., & Runyan, D. (1998). Identification of child maltreatment with the parent-child conflict tactics scales: Development and psychometric data for a national sample of American parents. Child Abuse & Neglect, 22, 249-270] psychological and physical aggression subscales. Bivariate results indicated that Hispanic fathers were the least likely to spank or engage in psychological or physical aggression. Multiple regression analyses indicated that paternal employment and earnings were not significantly associated with PCA. Compared to cohabiting African American fathers, married African American fathers were found to be at greater risk for some forms of PCA. This pattern was not found for White or Hispanic families. In this diverse sample of involved, biological fathers, there appear to be multiple potential risk-heightening pathways that vary across race/ethnic groups. With the proper control variables, paternal employment and earnings may not be as directly linked to fathers' physical abuse risk as has been previously thought. There is a need for interventions within the child welfare system that better promote

Paternity testing that involves a DNA mixture.

PubMed

Mortera, Julia; Vecchiotti, Carla; Zoppis, Silvia; Merigioli, Sara

2016-07-01

Here we analyse a complex disputed paternity case, where the DNA of the putative father was extracted from his corpse that had been inhumed for over 20 years. This DNA was contaminated and appears to be a mixture of at least two individuals. Furthermore, the mother's DNA was not available. The DNA mixture was analysed so as to predict the most probable genotypes of each contributor. The major contributor's profile was then used to compute the likelihood ratio for paternity. We also show how to take into account a dropout allele and the possibility of mutation in paternity testing. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice

PubMed Central

Wu, Mei-Yi; Jiang, Ming; Zhai, Xiaodong; Beaudet, Arthur L.; Wu, Ray-Chang

2012-01-01

Genomic imprinting is a phenomenon that some genes are expressed differentially according to the parent of origin. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurobehavioral disorders caused by deficiency of imprinted gene expression from paternal and maternal chromosome 15q11–q13, respectively. Imprinted genes at the PWS/AS domain are regulated through a bipartite imprinting center, the PWS-IC and AS-IC. The PWS-IC activates paternal-specific gene expression and is responsible for the paternal imprint, whereas the AS-IC functions in the maternal imprint by allele-specific repression of the PWS-IC to prevent the paternal imprinting program. Although mouse chromosome 7C has a conserved PWS/AS imprinted domain, the mouse equivalent of the human AS-IC element has not yet been identified. Here, we suggest another dimension that the PWS-IC also functions in maternal imprinting by negatively regulating the paternally expressed imprinted genes in mice, in contrast to its known function as a positive regulator for paternal-specific gene expression. Using a mouse model carrying a 4.8-kb deletion at the PWS-IC, we demonstrated that maternal transmission of the PWS-IC deletion resulted in a maternal imprinting defect with activation of the paternally expressed imprinted genes and decreased expression of the maternally expressed imprinted gene on the maternal chromosome, accompanied by alteration of the maternal epigenotype toward a paternal state spread over the PWS/AS domain. The functional significance of this acquired paternal pattern of gene expression was demonstrated by the ability to complement PWS phenotypes by maternal inheritance of the PWS-IC deletion, which is in stark contrast to paternal inheritance of the PWS-IC deletion that resulted in the PWS phenotypes. Importantly, low levels of expression of the paternally expressed imprinted genes are sufficient to rescue postnatal lethality and growth retardation in two PWS mouse models. These findings

An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.

PubMed

Wu, Mei-Yi; Jiang, Ming; Zhai, Xiaodong; Beaudet, Arthur L; Wu, Ray-Chang

2012-01-01

Genomic imprinting is a phenomenon that some genes are expressed differentially according to the parent of origin. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurobehavioral disorders caused by deficiency of imprinted gene expression from paternal and maternal chromosome 15q11-q13, respectively. Imprinted genes at the PWS/AS domain are regulated through a bipartite imprinting center, the PWS-IC and AS-IC. The PWS-IC activates paternal-specific gene expression and is responsible for the paternal imprint, whereas the AS-IC functions in the maternal imprint by allele-specific repression of the PWS-IC to prevent the paternal imprinting program. Although mouse chromosome 7C has a conserved PWS/AS imprinted domain, the mouse equivalent of the human AS-IC element has not yet been identified. Here, we suggest another dimension that the PWS-IC also functions in maternal imprinting by negatively regulating the paternally expressed imprinted genes in mice, in contrast to its known function as a positive regulator for paternal-specific gene expression. Using a mouse model carrying a 4.8-kb deletion at the PWS-IC, we demonstrated that maternal transmission of the PWS-IC deletion resulted in a maternal imprinting defect with activation of the paternally expressed imprinted genes and decreased expression of the maternally expressed imprinted gene on the maternal chromosome, accompanied by alteration of the maternal epigenotype toward a paternal state spread over the PWS/AS domain. The functional significance of this acquired paternal pattern of gene expression was demonstrated by the ability to complement PWS phenotypes by maternal inheritance of the PWS-IC deletion, which is in stark contrast to paternal inheritance of the PWS-IC deletion that resulted in the PWS phenotypes. Importantly, low levels of expression of the paternally expressed imprinted genes are sufficient to rescue postnatal lethality and growth retardation in two PWS mouse models. These findings

Risk Factors for Paternal Physical Child Abuse

ERIC Educational Resources Information Center

Lee, Shawna J.; Guterman, Neil B.; Lee, Yookyong

2008-01-01

Objective: This study uses the developmental-ecological framework to examine a comprehensive set of paternal factors hypothesized to be linked to risk for paternal child abuse (PCA) among a diverse sample of fathers. Attention was given to fathers' marital status and their race/ethnicity (White, African American, and Hispanic). Methods: Interviews…

What Exactly (If Anything) Is Wrong with Paternalism towards Children?

ERIC Educational Resources Information Center

Drerup, Johannes

2017-01-01

Theoretical and practical issues concerning the justification of paternalism towards children are widely debated in a variety of philosophical contexts. The major focus of these debates lies either on questions concerning the general legitimacy of paternalism towards children or on justifications of paternalism in concrete situations involving…

Paternal and maternal birthweights and the risk of infant preterm birth.

PubMed

Klebanoff, Mark A

2008-01-01

Increasing paternal birthweight has been associated with increased risk of fathering a preterm infant, causing speculation that a fetus programmed to grow rapidly can trigger preterm labor. Pregnancies occurring from 1974-1989 among women themselves born in the Danish Perinatal Study (1959-1961) were identified through the Population Register; obstetric records were abstracted. Paternal birthweight was obtained by linking Personal Identification Numbers of the fathers to archived midwifery records. Paternal birthweight was not associated with preterm infants overall. However, there was a significant interaction between paternal and maternal birthweights (P = .003). When the mother weighed less than 3 kg at birth, increasing paternal birthweight was associated with increased occurrence of preterm birth (P for trend = .02); paternal birthweight was unassociated with preterm birth for mothers weighing 3 kg or more at birth (P = .34). When the mother was born small, increasing paternal birthweight was associated with increased risk of preterm birth, suggesting that a fetus growing faster than its mother can accommodate might trigger preterm birth.

Paternal education and adverse birth outcomes in Canada.

PubMed

Shapiro, Gabriel D; Bushnik, Tracey; Sheppard, Amanda J; Kramer, Michael S; Kaufman, Jay S; Yang, Seungmi

2017-01-01

Research on predictors of adverse birth outcomes has focused on maternal characteristics. Much less is known about the role of paternal factors. Paternal education is an important socioeconomic marker that may predict birth outcomes over and above maternal socioeconomic indicators. Using data from the 2006 Canadian Birth-Census Cohort, we estimated the associations between paternal education and preterm birth, small-for-gestational-age (SGA) birth, stillbirth and infant mortality in Canada, controlling for maternal characteristics. Binomial regression was used to estimate risk ratios and risk differences for adverse birth outcomes associated with paternal education, after controlling for maternal education, age, marital status, parity, ethnicity and nativity. A total of 131 285 singleton births were included in the present study. Comparing the lowest to the highest paternal education category, adjusted risk ratios (95% CIs) were 1.22 (1.10 to 1.35) for preterm birth, 1.13 (1.03 to 1.23) for SGA birth, 1.92 (1.28 to 2.86) for stillbirth and 1.67 (1.01 to 2.75) for infant mortality. Consistent patterns of associations were observed for absolute risk differences. Our study suggests that low paternal education increases the risk of adverse birth outcomes, and especially of fetal and infant mortality, independently from maternal characteristics. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Paternal care and litter size coevolution in mammals.

PubMed

Stockley, Paula; Hobson, Liane

2016-04-27

Biparental care of offspring occurs in diverse mammalian genera and is particularly common among species with socially monogamous mating systems. Despite numerous well-documented examples, however, the evolutionary causes and consequences of paternal care in mammals are not well understood. Here, we investigate the evolution of paternal care in relation to offspring production. Using comparative analyses to test for evidence of evolutionary associations between male care and life-history traits, we explore if biparental care is likely to have evolved because of the importance of male care to offspring survival, or if evolutionary increases in offspring production are likely to result from the evolution of biparental care. Overall, we find no evidence that paternal care has evolved in response to benefits of supporting females to rear particularly costly large offspring or litters. Rather, our findings suggest that increases in offspring production are more likely to follow the evolution of paternal care, specifically where males contribute depreciable investment such as provisioning young. Through coevolution with litter size, we conclude that paternal care in mammals is likely to play an important role in stabilizing monogamous mating systems and could ultimately promote the evolution of complex social behaviours. © 2016 The Authors.

Paternal care and litter size coevolution in mammals

PubMed Central

Hobson, Liane

2016-01-01

Biparental care of offspring occurs in diverse mammalian genera and is particularly common among species with socially monogamous mating systems. Despite numerous well-documented examples, however, the evolutionary causes and consequences of paternal care in mammals are not well understood. Here, we investigate the evolution of paternal care in relation to offspring production. Using comparative analyses to test for evidence of evolutionary associations between male care and life-history traits, we explore if biparental care is likely to have evolved because of the importance of male care to offspring survival, or if evolutionary increases in offspring production are likely to result from the evolution of biparental care. Overall, we find no evidence that paternal care has evolved in response to benefits of supporting females to rear particularly costly large offspring or litters. Rather, our findings suggest that increases in offspring production are more likely to follow the evolution of paternal care, specifically where males contribute depreciable investment such as provisioning young. Through coevolution with litter size, we conclude that paternal care in mammals is likely to play an important role in stabilizing monogamous mating systems and could ultimately promote the evolution of complex social behaviours. PMID:27097924

Paternal age and psychiatric disorders: A review

PubMed Central

Buizer‐Voskamp, Jacobine E.; Dolan, Conor V.; Boomsma, Dorret I.

2016-01-01

We review the hypotheses concerning the association between the paternal age at childbearing and childhood psychiatric disorders (autism spectrum‐ and attention deficit/hyperactive disorder) and adult disorders (schizophrenia, bipolar‐, obsessive–compulsive‐, and major depressive disorder) based on epidemiological studies. Several hypotheses have been proposed to explain the paternal age effect. We discuss the four main—not mutually exclusive—hypotheses. These are the de novo mutation hypothesis, the hypothesis concerning epigenetic alterations, the selection into late fatherhood hypothesis, and the environmental resource hypothesis. Advanced paternal age in relation to autism spectrum disorders and schizophrenia provided the most robust epidemiological evidence for an association, with some studies reporting a monotonic risk increase over age, and others reporting a marked increase at a given age threshold. Although there is evidence for the de novo mutation hypothesis and the selection into late fatherhood hypothesis, the mechanism(s) underlying the association between advanced paternal age and psychiatric illness in offspring remains to be further clarified. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. PMID:27770494

Paternity tests in Mexico: Results obtained in 3005 cases.

PubMed

García-Aceves, M E; Romero Rentería, O; Díaz-Navarro, X X; Rangel-Villalobos, H

2018-04-01

National and international reports regarding the paternity testing activity scarcely include information from Mexico and other Latin American countries. Therefore, we report different results from the analysis of 3005 paternity cases analyzed during a period of five years in a Mexican paternity testing laboratory. Motherless tests were the most frequent (77.27%), followed by trio cases (20.70%); the remaining 2.04% included different cases of kinship reconstruction. The paternity exclusion rate was 29.58%, higher but into the range reported by the American Association of Blood Banks (average 24.12%). We detected 65 mutations, most of them involving one-step (93.8% and the remaining were two-step mutations (6.2%) thus, we were able to estimate the paternal mutation rate for 17 different STR loci: 0.0018 (95% CI 0.0005-0.0047). Five triallelic patterns and 12 suspected null alleles were detected during this period; however, re-amplification of these samples with a different Human Identification (HID) kit confirmed the homozygous genotypes, which suggests that most of these exclusions actually are one-step mutations. HID kits with ≥20 STRs detected more exclusions, diminishing the rate of inconclusive results with isolated exclusions (<3 loci), and leading to higher paternity indexes (PI). However, the Powerplex 21 kit (20 STRs) and Powerplex Fusion kit (22 STRs) offered similar PI (p = 0.379) and average number of exclusions (PE) (p = 0.339) when a daughter was involved in motherless tests. In brief, besides to report forensic parameters from paternity tests in Mexico, results describe improvements to solve motherless paternity tests using HID kits with ≥20 STRs instead of one including 15 STRs. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

Multiple paternity in the freshwater snail, Potamopyrgus antipodarum

PubMed Central

Soper, Deanna M; Delph, Lynda F; Lively, Curt M

2012-01-01

Mating multiply may incur costs, such as exposure to predators and to sexually transmitted diseases. Nevertheless, it may be favored, in spite of these costs, as a way to increase the genetic diversity of offspring through fertilization by multiple males. Here, we tested for multiple paternity in a freshwater snail (Potamopyrgus antipodarum), which is host to several species of sterilizing trematode worms. Using microsatellites markers, we found multiple paternity in two different snail populations, with as many as seven males fertilizing a single female. In addition, high evenness of sire fertilization was found within individual broods. Multiple paternity can occur for a variety of reasons; however, given that these populations experience high risk of infection by a sterilizing trematode, one potential explanation may be that multiple paternity and high evenness of sire fertilizations increase the chances of the production of parasite-resistant offspring. PMID:23301182

Evidence for paternal leakage in hybrid periodical cicadas (Hemiptera: Magicicada spp.).

PubMed

Fontaine, Kathryn M; Cooley, John R; Simon, Chris

2007-09-12

Mitochondrial inheritance is generally assumed to be maternal. However, there is increasing evidence of exceptions to this rule, especially in hybrid crosses. In these cases, mitochondria are also inherited paternally, so "paternal leakage" of mitochondria occurs. It is important to understand these exceptions better, since they potentially complicate or invalidate studies that make use of mitochondrial markers. We surveyed F1 offspring of experimental hybrid crosses of the 17-year periodical cicadas Magicicada septendecim, M. septendecula, and M. cassini for the presence of paternal mitochondrial markers at various times during development (1-day eggs; 3-, 6-, 9-week eggs; 16-month old 1st and 2nd instar nymphs). We found evidence of paternal leakage in both reciprocal hybrid crosses in all of these samples. The relative difficulty of detecting paternal mtDNA in the youngest eggs and ease of detecting leakage in older eggs and in nymphs suggests that paternal mitochondria proliferate as the eggs develop. Our data support recent theoretical predictions that paternal leakage may be more common than previously estimated.

Evidence for Paternal Leakage in Hybrid Periodical Cicadas (Hemiptera: Magicicada spp.)

PubMed Central

Fontaine, Kathryn M.; Cooley, John R.; Simon, Chris

2007-01-01

Mitochondrial inheritance is generally assumed to be maternal. However, there is increasing evidence of exceptions to this rule, especially in hybrid crosses. In these cases, mitochondria are also inherited paternally, so “paternal leakage” of mitochondria occurs. It is important to understand these exceptions better, since they potentially complicate or invalidate studies that make use of mitochondrial markers. We surveyed F1 offspring of experimental hybrid crosses of the 17-year periodical cicadas Magicicada septendecim, M. septendecula, and M. cassini for the presence of paternal mitochondrial markers at various times during development (1-day eggs; 3-, 6-, 9-week eggs; 16-month old 1st and 2nd instar nymphs). We found evidence of paternal leakage in both reciprocal hybrid crosses in all of these samples. The relative difficulty of detecting paternal mtDNA in the youngest eggs and ease of detecting leakage in older eggs and in nymphs suggests that paternal mitochondria proliferate as the eggs develop. Our data support recent theoretical predictions that paternal leakage may be more common than previously estimated. PMID:17849021

Paternal programming in sticklebacks

PubMed Central

Stein, Laura R.; Bell, Alison M.

2015-01-01

In a wide range of organisms, including humans, mothers can influence offspring via the care they provide. Comparatively little is known about the effects of fathering on offspring. Here, we test the hypothesis that fathers are capable of programming their offspring for the type of environment they are likely to encounter. Male threespine sticklebacks, Gasterosteus aculeatus, were either exposed to predation risk while fathering or not. Fathers altered their paternal behaviour when exposed to predation risk, and consequently produced adult offspring with phenotypes associated with strong predation pressure (smaller size, reduced body condition, reduced behavioural activity). Moreover, more attentive fathers produced offspring that showed stronger antipredator responses. These results are consistent with behaviourally mediated paternal programming: fathers can alter offspring phenotypes to match their future environment and influence offspring traits well into adulthood. PMID:27011391

[Effect of paternity leave on maternal postpartum depression].

PubMed

Séjourné, N; Beaumé, M; Vaslot, V; Chabrol, H

2012-06-01

The aim of this study was to explore the role of the paternity leave in the appearance of the maternal postpartum depression. Fifty-one couples took part in the whole study. Between the second and the fifth day after the childbirth, the mother completed the Edinburgh Postnatal Depression Scale (EPDS), which measures the symptoms of depression and the Multidimensional Scale of Perceived Social Support (MSPSS) which measures the social support the mother has become. The father completed the EPDS. Two months and then the second time four months after the childbirth, the mother received the EPDS, the MSPSS, and questionnaires measuring the temperament of the baby, the maternal skills, the feeling of being a mother and the quality of life postpartum. In order to evaluate the paternal involvement, the father completed the EPDS and questions about paternal skills and involvement. The paternity leave seemed not to have any consequences on the results at the EPDS or other questionnaires. However, lack of paternal involvement was a significant predictor of the intensity of the depressive symptoms of the mothers. It is not the presence of the father wich seems important to take into account for detection and the traitement of postpatum depression but his participation in the care of the baby. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Paternal occupational exposures and childhood cancer.

PubMed Central

Feychting, M; Plato, N; Nise, G; Ahlbom, A

2001-01-01

The objective of the study described here was to test the hypothesis that paternal occupational exposure near conception increases the risk of cancer in the offspring. We conducted a cohort study based on a population of 235,635 children born shortly after two different censuses in Sweden. The children were followed from birth to 14 years, and cases of cancer were identified in the Swedish Cancer Registry. Occupational hygienists assessed the probability of exposure to different agents in each combination of the father's industry and occupation as reported in the censuses. We also analyzed individual job titles. We compared the cancer incidence among children of exposed fathers to that among children of unexposed fathers using Cox proportional hazards modeling. The main findings were an increased risk of nervous system tumors related to paternal occupational exposure to pesticides [relative risk (RR) = 2.36; 95% confidence interval (CI), 1.27-4.39] and work as a painter (RR = 3.65; 95% CI, 1.71-7.80), and an increased risk of leukemia related to wood work by fathers (RR = 2.18; 95% CI, 1.26-3.78). We found no associations between childhood leukemia and paternal exposure to pesticides or paint. Our results support previous findings of an increased risk of childhood brain tumors and leukemia associated with certain paternal occupational exposures. Some findings in previous studies were not confirmed in this study. PMID:11266332

Origin of extra chromosome in Patau syndrome.

PubMed

Ishikiriyama, S; Niikawa, N

1984-01-01

Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome had originated in nondisjunction at the maternal first meiotic division in two patients, at the maternal second meiosis in other two, and at the paternal first meiosis in the remaining one. Summarizing the results of the present study, together with those of the previous studies on a liveborn and abortuses with trisomy 13, nondisjunction at the maternal and the paternal meiosis occurred in this trisomy in the ratio of 14:3. This ratio is not statistically different from that inferred from the previous studies for Down syndrome. These findings suggest that there may be a fundamental mechanism common to the occurrence of nondisjunction in the acrocentric trisomies.

Cellular evidence for selfish spermatogonial selection in aged human testes.

PubMed

Maher, G J; Goriely, A; Wilkie, A O M

2014-05-01

Owing to a recent trend for delayed paternity, the genomic integrity of spermatozoa of older men has become a focus of increased interest. Older fathers are at higher risk for their children to be born with several monogenic conditions collectively termed paternal age effect (PAE) disorders, which include achondroplasia, Apert syndrome and Costello syndrome. These disorders are caused by specific mutations originating almost exclusively from the male germline, in genes encoding components of the tyrosine kinase receptor/RAS/MAPK signalling pathway. These particular mutations, occurring randomly during mitotic divisions of spermatogonial stem cells (SSCs), are predicted to confer a selective/growth advantage on the mutant SSC. This selective advantage leads to a clonal expansion of the mutant cells over time, which generates mutant spermatozoa at levels significantly above the background mutation rate. This phenomenon, termed selfish spermatogonial selection, is likely to occur in all men. In rare cases, probably because of additional mutational events, selfish spermatogonial selection may lead to spermatocytic seminoma. The studies that initially predicted the clonal nature of selfish spermatogonial selection were based on DNA analysis, rather than the visualization of mutant clones in intact testes. In a recent study that aimed to identify these clones directly, we stained serial sections of fixed testes for expression of melanoma antigen family A4 (MAGEA4), a marker of spermatogonia. A subset of seminiferous tubules with an appearance and distribution compatible with the predicted mutant clones were identified. In these tubules, termed 'immunopositive tubules', there is an increased density of spermatogonia positive for markers related to selfish selection (FGFR3) and SSC self-renewal (phosphorylated AKT). Here we detail the properties of the immunopositive tubules and how they relate to the predicted mutant clones, as well as discussing the utility of

Oral health status of children with syndromic craniosynostosis.

PubMed

Dalben, Gisele da Silva; Costa, Beatriz; Gomide, Marcia Ribeiro

2006-01-01

To gain more information on the oral health status of subjects with syndromic craniosynostosis. A cross-sectional study. The present study took place at the Hospital for Rehabilitation of Craniofacial Anomalies of University of São Paulo (HRAC-USP). The sample was 19 patients with syndromic craniosynostosis (10 Apert, 5 Crouzon, 2 Pfeiffer and 2 Saethre-Chotzen), aged 5 to 15 years. An assessment of plaque, caries and gingival indices, and evaluation of the efficacy of toothbrushing was carried out. The measurements included PHP index, dmft and DMFT indices, gingival index, comparison of PHP before and after non-supervised toothbrushing and between individuals with and without severe syndactyly. The patients displayed high plaque index and poor efficacy of toothbrushing, regardless of the presence of severe syndactyly; despite the plaque accumulation, the gingival index was not proportionally high. There was predominance of the D component for the DMFT index, which combined with the need for restorative treatment in 42.1% of the patients indicates poor access to dental care by these patients. The results show the need for a dental follow-up programme for these patients. Carers should be informed of the importance in aiding these patients during accomplishment of oral hygiene at home.

Who's your daddy?: paternal inheritance of metabolic disease risk.

PubMed

Isganaitis, Elvira; Suehiro, Harumi; Cardona, Connie

2017-02-01

Although the importance of optimizing mothers' health prior to conception and during pregnancy is now well accepted, recent data also implicate health and nutritional status of fathers as contributors to chronic disease risk in their progeny. This brief review will highlight recent epidemiological and experimental studies linking paternal overnutrition, undernutrition, and other forms of stress, to metabolic disease in the offspring. The past 2 years have brought tremendous insights into the mechanisms by which paternal exposures can contribute to disease susceptibility in the next generation. Recent data, both from humans and experimental models, demonstrate that paternal obesity and undernutrition result in epigenetic reprogramming of male germ cells, notably altered DNA methylation, histone retention, and expression of small noncoding RNAs and transfer RNA fragments. Novel mechanisms have also been identified, such as epididymal transport vesicles, seminal fluid hormones and metabolites, and a unique seminal fluid microbiome. Paternal nutritional and other perturbations are linked to risk of metabolic disease and obesity in offspring. Germ cell-dependent mechanisms have recently been linked to these intergenerational effects. Nongenetic, paternal inheritance of chronic disease has important implications for public health, and may provide novel opportunities for multigenerational disease prevention.

The Association of Paternal Mood and Infant Temperament: A Pilot Study

ERIC Educational Resources Information Center

Dave, Shreya; Nazareth, Irwin; Sherr, Lorraine; Senior, Rob

2005-01-01

Maternal depression is associated with adverse child development, but little is known about the effects of paternal depression. This pilot study estimated the prevalence of paternal depression and mood state, and assessed the relationship between paternal mood and infant temperament. The participants in the study were 98 fathers of newborn babies.…

Multiple paternity in the cultured yellow pond turtles (Mauremys mutica).

PubMed

Zhang, Xin-Cheng; Zhao, Jian; Li, Wei; Wei, Cheng-Qing; Zhu, Xin-Ping

2017-08-01

As a result of hunting and habitat loss, wild populations of the yellow pond turtle, Mauremys mutica, are decreasing. The International Union for Conservation of Nature considers M. mutica to be an endangered species. All studied freshwater turtles have polyandrous mating with multiple paternity. To survey the mating strategies of M. mutica, 1year's genetic data of parents and all offspring in an artificially captive population were analyzed. Two groups of multiplex PCR containing 16 microsatellite loci were used to analyze the paternity of 302 hatchlings from 132 parents and from 159 clutches. The genetic data indicated that multiple paternity is rare in M. mutica, occurring in only seven of 138 clutches. Although the frequency of multiple paternity was only 5.07%, results of the present research indicate that M. mutica has a polyandrous mating system. In the breeding season, the successive clutches of 34 females each had the same paternity as the previous clutches. It was observed that four males (f85, f58, f87, and f76) had more than 20 offspring each, totaling 99 and representing 32.78% of all offspring. This finding implies that paternity is competitive in this artificially captive population and might bias the genetic diversity of the offspring. Copyright © 2017 Elsevier B.V. All rights reserved.

Paternal ADHD symptoms and child conduct problems: is father involvement always beneficial?

PubMed

Romirowsky, A M; Chronis-Tuscano, A

2014-09-01

Maternal psychopathology robustly predicts poor developmental and treatment outcomes for children with attention-deficit/hyperactivity disorder (ADHD). Despite the high heritability of ADHD, few studies have examined associations between paternal ADHD symptoms and child adjustment, and none have also considered degree of paternal involvement in childrearing. Identification of modifiable risk factors for child conduct problems is particularly important in this population given the serious adverse outcomes resulting from this comorbidity. This cross-sectional study examined the extent to which paternal involvement in childrearing moderated the association between paternal ADHD symptoms and child conduct problems among 37 children with ADHD and their biological fathers. Neither paternal ADHD symptoms nor involvement was independently associated with child conduct problems. However, the interaction between paternal ADHD symptoms and involvement was significant, such that paternal ADHD symptoms were positively associated with child conduct problems only when fathers were highly involved in childrearing. The presence of adult ADHD symptoms may determine whether father involvement in childrearing has a positive or detrimental influence on comorbid child conduct problems.

Paternal ADHD Symptoms and Child Conduct Problems: Is Father Involvement Always Beneficial?

PubMed Central

Romirowsky, Abigail Mintz; Chronis-Tuscano, Andrea

2013-01-01

Background Maternal psychopathology robustly predicts poor developmental and treatment outcomes for children with attention-deficit/hyperactivity disorder (ADHD). Despite the high heritability of ADHD, few studies have examined associations between paternal ADHD symptoms and child adjustment, and none have also considered degree of paternal involvement in childrearing. Identification of modifiable risk factors for child conduct problems is particularly important in this population given the serious adverse outcomes resulting from this comorbidity. Methods This cross-sectional study examined the extent to which paternal involvement in childrearing moderated the association between paternal ADHD symptoms and child conduct problems among 37 children with ADHD and their biological fathers. Results Neither paternal ADHD symptoms nor involvement was independently associated with child conduct problems. However, the interaction between paternal ADHD symptoms and involvement was significant, such that paternal ADHD symptoms were positively associated with child conduct problems only when fathers were highly involved in childrearing. Conclusions The presence of adult ADHD symptoms may determine whether father involvement in childrearing has a positive or detrimental influence on comorbid child conduct problems. PMID:25250402

Paternal obesity, interventions, and mechanistic pathways to impaired health in offspring.

PubMed

McPherson, Nicole O; Fullston, Tod; Aitken, R John; Lane, Michelle

2014-01-01

The global rates of male overweight/obesity are rising, approaching 70% of the total adult population in Western nations. Overweight/obesity increases the risk of chronic diseases; however, there is increasing awareness that male obesity negatively impacts fertility, subsequent pregnancy, and the offspring health burden. Developmental programming is well defined in mothers; however, it is becoming increasingly evident that developmental programming can be paternally initiated and mediated through paternal obesity. Both human and rodent models have established that paternal obesity impairs sex hormones, basic sperm function, and molecular composition. This results in perturbed embryo development and health and an increased subsequent offspring disease burden in both sexes. The reversibility of obesity-induced parental programming has only recently received attention. Promising results in animal models utilizing diet and exercise interventions have shown improvements in sperm function and molecular composition, resulting in restorations of both embryo and fetal health and subsequent male offspring fertility. The direct mode for paternal inheritance is likely mediated via spermatozoa. We propose two main theories for the origin of male obesity-induced paternal programming: (1) accumulation of sperm DNA damage resulting in de novo mutations in the embryo and (2) changes in sperm epigenetic marks (microRNA, methylation, or acetylation) altering the access, transcription, and translation of paternally derived genes during early embryogenesis. Paternal overweight/obesity induces paternal programming of offspring phenotypes likely mediated through genetic and epigenetic changes in spermatozoa. These programmed changes to offspring health appear to be partially restored via diet/exercise interventions in obese fathers preconception, which have been shown to improve aspects of sperm DNA integrity. However, the majority of data surrounding paternal obesity and offspring

Parental migration and Asperger’s syndrome

PubMed Central

Cheslack-Postava, Keely; Gissler, Mika; Hinkka-Yli-Salomäki, Susanna; Brown, Alan S.; Sourander, Andre

2014-01-01

Parental immigration has been suggested as a possible risk factor for autism spectrum disorders (ASD), but findings have been inconsistent. Very few studies have focused specifically on Asperger’s syndrome. The aim of this study was to examine the association between maternal and paternal immigration and the diagnosis of Asperger’s syndrome in offspring. The study was a nested case–control study based on a national birth cohort in Finland. Children born in 1987–2005 and diagnosed with Asperger’s syndrome by the year 2007 were identified from the Finnish Hospital Discharge Register (N = 1,783). Four matched controls for each case were selected from the Finnish Medical Birth Register (N = 7,106). Information on maternal and paternal country of birth and mother tongue was collected from the Finnish Central Population Register. The study showed that children whose parents are both immigrants have a significantly lower likelihood of being diagnosed with Asperger’s syndrome than those with two Finnish parents [adjusted odds ratio (aOR) 0.2, 95 % confidence interval (CI) 0.1–0.4]. No significant associations were found between having only one immigrant parent and the diagnosis of Asperger’s syndrome. A regional analysis showed a significantly decreased likelihood of the diagnosis of Asperger’s syndrome in children whose mother (aOR 0.1, 95 % CI 0.01–0.5) or father (aOR 0.2, 95 % CI 0.05–0.5) was born in Sub-Saharan Africa. The findings may help in identifying risk factors for different ASD subtypes. On the other hand, they might reflect service use of immigrant families in Finland. PMID:25381114

Paternal Influences on Adolescent Sexual Risk Behaviors: A Structured Literature Review

PubMed Central

Bouris, Alida; Lee, Jane; McCarthy, Katharine; Michael, Shannon L.; Pitt-Barnes, Seraphine; Dittus, Patricia

2012-01-01

BACKGROUND AND OBJECTIVE: To date, most parent-based research has neglected the role of fathers in shaping adolescent sexual behavior and has focused on mothers. The objective of this study was to conduct a structured review to assess the role of paternal influence on adolescent sexual behavior and to assess the methodological quality of the paternal influence literature related to adolescent sexual behavior. METHODS: We searched electronic databases: PubMed, PsychINFO, Social Services Abstracts, Family Studies Abstracts, Sociological Abstracts, and the Cumulative Index to Nursing and Allied Health Literature. Studies published between 1980 and 2011 that targeted adolescents 11 to 18 years and focused on paternal parenting processes were included. Methodological quality was assessed by using an 11-item scoring system. RESULTS: Thirteen articles were identified and reviewed. Findings suggest paternal factors are independently associated with adolescent sexual behavior relative to maternal factors. The most commonly studied paternal influence was emotional qualities of the father-adolescent relationship. Paternal communication about sex was most consistently associated with adolescent sexual behavior, whereas paternal attitudes about sex was least associated. Methodological limitations include a tendency to rely on cross-sectional design, nonprobability sampling methods, and focus on sexual debut versus broader sexual behavior. CONCLUSIONS: Existing research preliminarily suggests fathers influence the sexual behavior of their adolescent children; however, more rigorous research examining diverse facets of paternal influence on adolescent sexual behavior is needed. We provide recommendations for primary care providers and public health practitioners to better incorporate fathers into interventions designed to reduce adolescent sexual risk behavior. PMID:23071205

Paternal programming of offspring cardiometabolic diseases in later life

PubMed Central

Li, Jian; Tsuprykov, Oleg; Yang, Xiaoping; Hocher, Berthold

2016-01-01

Early – intrauterine – environmental factors are linked to the development of cardiovascular disease in later life. Traditionally, these factors are considered to be maternal factors such as maternal under and overnutrition, exposure to toxins, lack of micronutrients, and stress during pregnancy. However, in the recent years, it became obvious that also paternal environmental factors before conception and during sperm development determine the health of the offspring in later life. We will first describe clinical observational studies providing evidence for paternal programming of adulthood diseases in progeny. Next, we describe key animal studies proving this relationship, followed by a detailed analysis of our current understanding of the underlying molecular mechanisms of paternal programming. Alterations of noncoding sperm micro-RNAs, histone acetylation, and targeted as well as global DNA methylation seem to be in particular involved in paternal programming of offspring's diseases in later life. PMID:27457668

Non-equivalent contributions of maternal and paternal genomes to early plant embryogenesis.

PubMed

Del Toro-De León, Gerardo; García-Aguilar, Marcelina; Gillmor, C Stewart

2014-10-30

Zygotic genome activation in metazoans typically occurs several hours to a day after fertilization, and thus maternal RNAs and proteins drive early animal embryo development. In plants, despite several molecular studies of post-fertilization transcriptional activation, the timing of zygotic genome activation remains a matter of debate. For example, two recent reports that used different hybrid ecotype combinations for RNA sequence profiling of early Arabidopsis embryo transcriptomes came to divergent conclusions. One identified paternal contributions that varied by gene, but with overall maternal dominance, while the other found that the maternal and paternal genomes are transcriptionally equivalent. Here we assess paternal gene activation functionally in an isogenic background, by performing a large-scale genetic analysis of 49 EMBRYO DEFECTIVE genes and testing the ability of wild-type paternal alleles to complement phenotypes conditioned by mutant maternal alleles. Our results demonstrate that wild-type paternal alleles for nine of these genes are completely functional 2 days after pollination, with the remaining 40 genes showing partial activity beginning at 2, 3 or 5 days after pollination. Using our functional assay, we also demonstrate that different hybrid combinations exhibit significant variation in paternal allele activation, reconciling the apparently contradictory results of previous transcriptional studies. The variation in timing of gene function that we observe confirms that paternal genome activation does not occur in one early discrete step, provides large-scale functional evidence that maternal and paternal genomes make non-equivalent contributions to early plant embryogenesis, and uncovers an unexpectedly profound effect of hybrid genetic backgrounds on paternal gene activity.

Multiple paternity and hybridization in two smooth-hound sharks.

PubMed

Marino, Ilaria A M; Riginella, Emilio; Gristina, Michele; Rasotto, Maria B; Zane, Lorenzo; Mazzoldi, Carlotta

2015-08-10

Multiple paternity appears to be a common trait of elasmobranch mating systems, with its occurrence likely driven by convenience, due to females seeking to minimize the stress of male harassment. Here we use molecular markers to analyse the frequency of multiple paternity in two related viviparous sharks, Mustelus mustelus and Mustelus punctulatus. We first applied molecular methods to assign pregnant females, embryos and additional reference adults (N = 792) to one of the two species. Paternity analysis was performed using a total of 9 polymorphic microsatellites on 19 females and 204 embryos of M. mustelus, and on 13 females and 303 embryos of M. punctulatus. Multiple paternity occurs in both species, with 47% of M. mustelus and 54% of M. punctulatus litters sired by at least two fathers. Female fecundity is not influenced by multiple mating and in 56% of polyandrous litters paternity is skewed, with one male siring most of the pups. Genetic analyses also revealed hybridization between the two species, with a M. punctulatus female bearing pups sired by a M. mustelus male. The frequency of polyandrous litters in these species is consistent with aspects of their reproductive biology, such as synchronous ovulation and possible occurrence of breeding aggregations.

Single paternity of clutches in American Woodcock

USGS Publications Warehouse

Ziel, H.; McAuley, D.G.; Rhymer, J.M.

2000-01-01

Based on behavioral observations, the mating system of American Woodcock has been variously described as monogamous, a dispersed lek, or resource defense polygyny. Males perform elaborate mating displays that attract females to their display sites where copulations occur. We used microsatellite markers, developed for Ruffs (Philomachus pugnax), to assess paternity in American Woodcock. In 3 yr, we collected blood samples from 21 females and broods and 90 males. We found no evidence of multiple paternity within broods; paternity in all broods could be explained by 1 father. For 8 broods, we were able to infer probable fathers from males we sampled in the field. All 8 broods were found close to the singing site of the male or males that matched as possible fathers. Two males may have fathered 2 broods each, suggesting that polygyny may be a component of the woodcock mating system.

The nature of advocacy vs. paternalism in nursing: clarifying the 'thin line'.

PubMed

Zomorodi, Meg; Foley, Barbara Jo

2009-08-01

This paper is an exploration of the concepts of advocacy and paternalism in nursing and discusses the thin line between the two. Nurses are involved in care more than any other healthcare professionals and they play a central role in advocating for patients and families. It is difficult to obtain a clear definition of advocacy, yet the concepts of advocacy and paternalism must be compared, contrasted, and discussed extensively. In many situations, only a thin line distinguishes advocacy from paternalism. A literature search was conducted using PubMed and CINAHL databases (2000-2008) as well as a library catalogue for texts. Four case stories were described in order to discuss the 'thin line' between advocacy and paternalism and develop communication strategies to eliminate ambiguity. Weighing the ethical principles of beneficence and autonomy helps to clarify advocacy and paternalism and provides an avenue for discussion among nurses practicing in a variety of settings. Advocacy and paternalism should be discussed at interdisciplinary rounds, and taken into consideration when making patient care decisions. It is difficult to clarify advocacy vs. paternalism, but strategies such as knowing the patient, clarifying information, and educating all involved are initial steps in distinguishing advocacy from paternalism. Truly 'knowing' patients, their life experiences, values, beliefs and wishes can help clarify the 'thin line' and gain a grasp of these difficult to distinguish theoretical concepts.

Father-Son Inter-Generational Transmission of Authoritarian Paternal Attitudes.

ERIC Educational Resources Information Center

Peretti, Peter O.; Statum, Jo Ann

1984-01-01

Attempted to determine authoritarian paternal attitude inter-generational transmission in fathers and sons (N=75). Results suggested that authoritarian paternal attitudes could be indicated in terms of five factors: Dominant, Rigidity, Conformity, Intolerant, and Uncreative; and that the sons expressed strongly the authoritarian attitudes of their…

Effect of Paternal Age on Reproductive Outcomes of In Vitro Fertilization

PubMed Central

Zheng, Haiyan; Liu, Haiying; Liu, Jianqiao

2015-01-01

Although the adverse effects of maternal aging on reproductive outcomes have been investigated widely, there is no consensus on the impact of paternal age. Therefore, we investigated the effect of paternal age on reproductive outcomes in a retrospective analysis of 9,991 in vitro fertilization (IVF) cycles performed at the Reproductive Medicine Center of the Third Affiliated Hospital of Guangzhou Medical University (China) between January 2007 and October 2013. Samples were grouped according to maternal age [<30 (3,327 cycles), 30–34 (4,587 cycles), and 35–38 (2,077 cycles)] and then subgrouped according to paternal age (<30, 30–32, 33–35, 36–38, 39–41, and ≥42). The groups did not differ in terms of fertilization rate, numbers of viable and high-quality embryos and miscarriage rate when controlling maternal age (P >0.05). Chi-squared analysis revealed that there were no differences in implantation and pregnancy rates among the different paternal age groups when maternal age was <30 and 35–38 years (P >0.05). However, implantation and pregnancy rates decreased with paternal age in the 31–34 y maternal age group (P <0.05). Our study indicates that paternal age has no impact on fertilization rate, embryo quality at the cleavage stage and miscarriage rate. For the 30–34 y maternal age group, the implantation rate decreased with increased paternal age, with the pregnancy rate in this group being significantly higher in the paternal <30 y and 30–32 y age groups, compared with those in the 36–38 y and 39–41 y groups. PMID:26352861

Mechanisms and consequences of paternally transmitted chromosomal abnormalities

DOE Office of Scientific and Technical Information (OSTI.GOV)

Marchetti, F; Wyrobek, A J

Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternally-derived chromosomal abnormalities.more » The available evidence suggests that: (1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; (2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, (3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.« less

FEMALE AND MALE GENETIC EFFECTS ON OFFSPRING PATERNITY: ADDITIVE GENETIC (CO)VARIANCES IN FEMALE EXTRA-PAIR REPRODUCTION AND MALE PATERNITY SUCCESS IN SONG SPARROWS (MELOSPIZA MELODIA)

PubMed Central

Reid, Jane M; Arcese, Peter; Keller, Lukas F; Losdat, Sylvain

2014-01-01

Ongoing evolution of polyandry, and consequent extra-pair reproduction in socially monogamous systems, is hypothesized to be facilitated by indirect selection stemming from cross-sex genetic covariances with components of male fitness. Specifically, polyandry is hypothesized to create positive genetic covariance with male paternity success due to inevitable assortative reproduction, driving ongoing coevolution. However, it remains unclear whether such covariances could or do emerge within complex polyandrous systems. First, we illustrate that genetic covariances between female extra-pair reproduction and male within-pair paternity success might be constrained in socially monogamous systems where female and male additive genetic effects can have opposing impacts on the paternity of jointly reared offspring. Second, we demonstrate nonzero additive genetic variance in female liability for extra-pair reproduction and male liability for within-pair paternity success, modeled as direct and associative genetic effects on offspring paternity, respectively, in free-living song sparrows (Melospiza melodia). The posterior mean additive genetic covariance between these liabilities was slightly positive, but the credible interval was wide and overlapped zero. Therefore, although substantial total additive genetic variance exists, the hypothesis that ongoing evolution of female extra-pair reproduction is facilitated by genetic covariance with male within-pair paternity success cannot yet be definitively supported or rejected either conceptually or empirically. PMID:24724612

Does early paternal involvement predict offspring developmental diagnoses?

PubMed

Jackson, Dylan B; Newsome, Jamie; Beaver, Kevin M

2016-12-01

A long line of research has illustrated that fathers play an important role in the development of their children. Few studies, however, have examined the impact of paternal involvement at the earliest stages of life on developmental diagnoses in childhood. The present study extends this line of research by exploring the possibility that paternal involvement prenatally, postnatally, and at the time of birth may influence offspring risk for various diagnoses in childhood. A quasi-experimental, propensity score matching design was used to create treatment and control groups to assess the relationship between paternal involvement at each stage of development and developmental diagnoses. Approximately 6000 children, and a subsample of fathers, who participated in the Early Childhood Longitudinal Study, Birth Cohort (ECLS-B). Activity, attention and learning, speech or language, and other diagnoses in early childhood, and overall number of diagnoses at 4years of age. We find no consistent evidence that low paternal involvement prenatally or postnatally increases the risk of various developmental diagnoses by age 4. However, children whose fathers were absent at the time of their birth were at significantly greater risk of incurring various developmental diagnoses, as well as a significantly greater number of developmental diagnoses. The findings expand our understanding of exactly how early paternal influence begins and the specific dimensions of early father behaviors that are related to the risk of various developmental diagnoses. Ultimately, these results have important implications concerning father involvement during the earliest stages of the life course. Copyright © 2016. Published by Elsevier Ireland Ltd.

Prader-Willi Syndrome: Obesity due to Genomic Imprinting

PubMed Central

Butler, Merlin G

2011-01-01

Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder due to errors in genomic imprinting with loss of imprinted genes that are paternally expressed from the chromosome 15q11-q13 region. Approximately 70% of individuals with PWS have a de novo deletion of the paternally derived 15q11-q13 region in which there are two subtypes (i.e., larger Type I or smaller Type II), maternal disomy 15 (both 15s from the mother) in about 25% of cases, and the remaining subjects have either defects in the imprinting center controlling the activity of imprinted genes or due to other chromosome 15 rearrangements. PWS is characterized by a particular facial appearance, infantile hypotonia, a poor suck and feeding difficulties, hypogonadism and hypogenitalism in both sexes, short stature and small hands and feet due to growth hormone deficiency, mild learning and behavioral problems (e.g., skin picking, temper tantrums) and hyperphagia leading to early childhood obesity. Obesity is a significant health problem, if uncontrolled. PWS is considered the most common known genetic cause of morbid obesity in children. The chromosome 15q11-q13 region contains approximately 100 genes and transcripts in which about 10 are imprinted and paternally expressed. This region can be divided into four groups: 1) a proximal non-imprinted region; 2) a PWS paternal-only expressed region containing protein-coding and non-coding genes; 3) an Angelman syndrome region containing maternally expressed genes and 4) a distal non-imprinted region. This review summarizes the current understanding of the genetic causes, the natural history and clinical presentation of individuals with PWS. PMID:22043168

Evolution of monogamy, paternal investment, and female life history in Peromyscus.

PubMed

Jašarević, Eldin; Bailey, Drew H; Crossland, Janet P; Dawson, Wallace D; Szalai, Gabor; Ellersieck, Mark R; Rosenfeld, Cheryl S; Geary, David C

2013-02-01

The timing of reproductive development and associated trade-offs in quantity versus quality of offspring produced across the life span are well documented in a wide range of species. The relation of these aspects of maternal life history to monogamy and paternal investment in offspring is not well studied in mammals, due in part to the rarity of the latter. By using five large, captive-bred populations of Peromyscus species that range from promiscuous mating with little paternal investment (P. maniculatus bairdii) to social and genetic monogamy with substantial paternal investment (P. californicus insignis), we modeled the interaction between monogamy and female life history. Monogamy and high paternal investment were associated with smaller litter size, delayed maternal reproduction that extended over a longer reproductive life span, and larger, higher quality offspring. The results suggest monogamy and paternal investment can alter the evolution of female life-history trajectories in mammals. PsycINFO Database Record (c) 2013 APA, all rights reserved

Paternal postnatal depression in Ireland: Prevalence and associated factors.

PubMed

Philpott, Lloyd Frank; Corcoran, Paul

2018-01-01

it is well established that fatherhood has a long term positive and protective effect on men's health. However, there is also evidence that the transition to fatherhood can be complex and demanding and can lead to distress, anxiety and increased risk of depression. this study aimed to investigate the prevalence of paternal postnatal depression, and to examine associations with a range of demographic and clinical factors. a cross-sectional study design was used to collect primary data from 100 fathers, whose partner gave birth to an infant in the previous 12 months. Data were collected using the Edinburgh Postnatal Depression Scale. the prevalence of paternal postnatal depression was 12% using the Edinburgh Postnatal Depression Scale cut off score of 12 or above, when the cut off score was reduced to 9 or above the prevalence was 28%. The factors found to increase the risk of paternal postnatal depression included having an infant with sleep problems, a previous history of depression, a lack of social support, poor economic circumstances, not having paternity leave and not being married. the results add to the growing body of evidence that paternal postnatal mental health is a significant public health issue, and indicates a need for assessment and support for fathers during this life stage. Copyright © 2017 Elsevier Ltd. All rights reserved.

Divergent Trends in US Maternity and Paternity Leave, 1994-2015.

PubMed

Zagorsky, Jay L

2017-03-01

To determine the number and type of US workers taking maternity or paternity leave. We created a publicly available ecological long-term series for measuring parental leave from 1994 to 2015 by using the Current Population Survey, which interviews about 60 000 randomly selected households monthly. The average month from 1994 to 2015 saw 273 000 women and 13 000 men on maternity or paternity leave. Maternity leave rates per 10 000 births showed no trend over 22 years (mean = 677.6). Paternity figures increased by a factor of 3, but started from a small base (14.7-54.6). We observed no national impact on maternity or paternity leave after implementation of state laws that provided paid leave. About half (51.1%) of employees on maternity or paternity leave during 2015 received paid time off. The typical woman on maternity leave was older, more likely married, more likely non-Hispanic White, and more educated than the typical woman who gave birth. Although the US economy has expanded dramatically since 1994, this improvement does not appear to have translated into more women taking maternity leave.

Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Vgontzas, A.N.; Kales, A.; Bixler, E.O.

To assess whether sleep abnormalities are related to the genetic abnormalities in Prader-Willi Syndrome (PWS), we performed polysomnographic studies (nighttime and daytime) and determined the chromosome 15 genotypes in eight patients with PWS. Four patients demonstrated sleep onset REM periods (SOREM), and five met the objective polysomnographic criteria for severe or moderate excessive daytime sleepiness (EDS). Three of the four patients with SOREM displayed a paternally derived deletion of chromosome 15q11-q13, whereas the fourth exhibited maternal uniparental heterodisomy in this chromosomal region (UPD). Two of the four patients that did not display SOREM carried paternally derived deletions; the remaining twomore » demonstrated UPD. Four of the five patients with EDS displayed paternal deletions, and the fifth exhibited UPD. One of three patients without evidence of EDS demonstrated paternal deletion; the remaining two showed UPD. Although neither EDS nor SOREM was not consistently associated with a specific genetic abnormality, these phenotypes may be more common in patients with paternal deletions than in those with UPD. Sleep abnormalities in PWS cannot be explained by a single genetic model. 32 refs., 1 tab.« less

Fathers in Turkey: Paternity Characteristics, Gender Role, Communication Skills

ERIC Educational Resources Information Center

ünüvar, Perihan

2017-01-01

Objective of this study is to examine the correlation the quality of paternity, gender roles and communication skills of fathers. The scores in the scale of supporting developmental tasks were used in order to determine the quality of paternity. The other data collection tools were the BEM sex role inventory and the communication skills inventory.…

Parental Psychopathology and Paternal Child Neglect in Late Childhood

ERIC Educational Resources Information Center

Stewart, Chris; Mezzich, Ada C.; Day, Bang-Shiuh

2006-01-01

We aimed at determining the association of both severity of paternal and maternal substance use disorder (SUD) and psychiatric disorders with paternal child neglect severity during late childhood. The sample comprised 146 intact SUD (n=71) and non SUD (n=75) families with a 10-12 year old female or male biological offspring. The average age of…

Paternal behavior in the Mongolian gerbil (Meriones unguiculatus): Estrogenic and androgenic regulation.

PubMed

Martínez, Ana; Ramos, Guillermo; Martínez-Torres, Martín; Nicolás, Leticia; Carmona, Agustín; Cárdenas, Mario; Luis, Juana

2015-05-01

Here, we analyzed the effects of testosterone (T) and its metabolites, estradiol (E2) and dihydrotestosterone (DHT), on the onset of paternal behavior in virgin male Mongolian gerbils (Meriones unguiculatus). We hypothesized that T and E2, but not DHT, would facilitate the onset of paternal behavior. Seventy males displaying aggression toward pups were selected through a paternal behavior screening test. Forty males were bilaterally castrated. Of them, 10 were implanted with T, 10 with E2, and 10 with DHT, and 10 received no treatment. Another 30 males underwent a sham procedure. In these gerbils, T, E2 and DHT were measured to obtain the basal levels of these hormones. After treatment, the paternal behavior test was conducted again. Blood samples were obtained immediately after the administration of the test for the quantification of T, E2 and DHT by radioimmunoassay. Surprisingly, 100% of the males that received T, E2 and DHT implants stopped being aggressive and became paternal. Castrated and sham-operated males displayed no changes in their aggressive behaviors. This is the first report that T and its metabolites are involved in neuroendocrine mechanisms that inhibit aggression toward pups and facilitate paternal behavior in virgin male Mongolian gerbils. In addition, this is the first report of regulation of paternal behavior in a rodent by estrogenic and androgenic pathways. Copyright © 2015 Elsevier Inc. All rights reserved.

Parental Dermatoglyphics in Down's Syndrome. A Ten-year Study

PubMed Central

Priest, J. H.; Verhulst, C.; Sirkin, S.

1973-01-01

Fathers and mothers of Down's syndrome cases show dermal microsymptoms when a large series of parents are compared to the general population. A Walker dermal index score in the overlap range (-2·99 to +3·00) is more likely to occur in fathers of age-dependent Down's syndrome cases (mean paternal age 40, range 25 to 54 years) and in Down's syndrome mothers than in the general population. The relative risk for these fathers to have a dermal index in the overlap range is two times the risk for male controls; the corresponding risk for mothers of Down's syndrome cases is 1·6 times that for female controls. Thus a score in the overlap range may be used to indicate a group of parents at higher risk for recurrence and occurrence of trisomy 21 offspring. This higher risk parent group can be offered cytogenetic studies, including amniocentesis and chromosome analysis on peripheral blood and skin, as dictated by clinical circumstances. From a comparison of dermal indexes in these studies, the contribution of maternal mosaicism to all cases of Down's syndrome is estimated to be about 11% and the contribution of paternal mosaicism about 8%. The contribution from mosaicism in the father but not in the mother appears to increase with parental age. To confirm these estimates, more parents with trisomy 21 mosaicism and trisomy 21 offspring must be diagnosed and studied quantitatively for dermal microsymptoms. PMID:4272738

Impact of maternal and paternal smoking on birth outcomes.

PubMed

Inoue, Sachiko; Naruse, Hiroo; Yorifuji, Takashi; Kato, Tsuguhiko; Murakoshi, Takeshi; Doi, Hiroyuki; Subramanian, S V

2017-09-01

The adverse effects of maternal and paternal smoking on child health have been studied. However, few studies demonstrate the interaction effects of maternal/paternal smoking, and birth outcomes other than birth weight have not been evaluated. The present study examined individual effects of maternal/paternal smoking and their interactions on birth outcomes. A follow-up hospital-based study from pregnancy to delivery was conducted from 1997 to 2010 with parents and newborn infants who delivered at a large hospital in Hamamatsu, Japan. The relationships between smoking and growth were evaluated with logistic regression. The individual effects of maternal smoking are related to low birth weight (LBW), short birth length and small head circumference. The individual effects of paternal smoking are related to short birth length and small head circumference. In the adjusted model, both parents' smoking showed clear associations with LBW (odds ratio [OR] = 1.64, 95% confidence interval [CI] 1.18-2.27) and short birth length (-1 standard deviation [SD] OR = 1.38, 95% CI 1.07-1.79; -2 SD OR = 2.75, 95% CI 1.84-4.10). Maternal smoking was significantly associated with birth weight and length, but paternal smoking was not. However, if both parents smoked, the risk of shorter birth length increased. © The Author 2016. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Quantitative Genetics Identifies Cryptic Genetic Variation Involved in the Paternal Regulation of Seed Development

PubMed Central

Pires, Nuno D.; Bemer, Marian; Müller, Lena M.; Baroux, Célia; Spillane, Charles; Grossniklaus, Ueli

2016-01-01

Embryonic development requires a correct balancing of maternal and paternal genetic information. This balance is mediated by genomic imprinting, an epigenetic mechanism that leads to parent-of-origin-dependent gene expression. The parental conflict (or kinship) theory proposes that imprinting can evolve due to a conflict between maternal and paternal alleles over resource allocation during seed development. One assumption of this theory is that paternal alleles can regulate seed growth; however, paternal effects on seed size are often very low or non-existent. We demonstrate that there is a pool of cryptic genetic variation in the paternal control of Arabidopsis thaliana seed development. Such cryptic variation can be exposed in seeds that maternally inherit a medea mutation, suggesting that MEA acts as a maternal buffer of paternal effects. Genetic mapping using recombinant inbred lines, and a novel method for the mapping of parent-of-origin effects using whole-genome sequencing of segregant bulks, indicate that there are at least six loci with small, paternal effects on seed development. Together, our analyses reveal the existence of a pool of hidden genetic variation on the paternal control of seed development that is likely shaped by parental conflict. PMID:26811909

Quantitative Genetics Identifies Cryptic Genetic Variation Involved in the Paternal Regulation of Seed Development.

PubMed

Pires, Nuno D; Bemer, Marian; Müller, Lena M; Baroux, Célia; Spillane, Charles; Grossniklaus, Ueli

2016-01-01

Embryonic development requires a correct balancing of maternal and paternal genetic information. This balance is mediated by genomic imprinting, an epigenetic mechanism that leads to parent-of-origin-dependent gene expression. The parental conflict (or kinship) theory proposes that imprinting can evolve due to a conflict between maternal and paternal alleles over resource allocation during seed development. One assumption of this theory is that paternal alleles can regulate seed growth; however, paternal effects on seed size are often very low or non-existent. We demonstrate that there is a pool of cryptic genetic variation in the paternal control of Arabidopsis thaliana seed development. Such cryptic variation can be exposed in seeds that maternally inherit a medea mutation, suggesting that MEA acts as a maternal buffer of paternal effects. Genetic mapping using recombinant inbred lines, and a novel method for the mapping of parent-of-origin effects using whole-genome sequencing of segregant bulks, indicate that there are at least six loci with small, paternal effects on seed development. Together, our analyses reveal the existence of a pool of hidden genetic variation on the paternal control of seed development that is likely shaped by parental conflict.

Noninvasive Prenatal Paternity Testing (NIPAT) through Maternal Plasma DNA Sequencing: A Pilot Study.

PubMed

Jiang, Haojun; Xie, Yifan; Li, Xuchao; Ge, Huijuan; Deng, Yongqiang; Mu, Haofang; Feng, Xiaoli; Yin, Lu; Du, Zhou; Chen, Fang; He, Nongyue

2016-01-01

Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA. The frequently used technologies were PCR followed by capillary electrophoresis and SNP typing array, respectively. Here, we developed a noninvasive prenatal paternity testing (NIPAT) based on SNP typing with maternal plasma DNA sequencing. We evaluated the influence factors (minor allele frequency (MAF), the number of total SNP, fetal fraction and effective sequencing depth) and designed three different selective SNP panels in order to verify the performance in clinical cases. Combining targeted deep sequencing of selective SNP and informative bioinformatics pipeline, we calculated the combined paternity index (CPI) of 17 cases to determine paternity. Sequencing-based NIPAT results fully agreed with invasive prenatal paternity test using STR multiplex system. Our study here proved that the maternal plasma DNA sequencing-based technology is feasible and accurate in determining paternity, which may provide an alternative in forensic application in the future.

Imprinting mutations suggested by abnormal DNA methylation patterns in familial angelman and Prader-Willi syndromes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Reis, A.; Dittrich, B.; Buiting, K.

1994-05-01

The D15S9 and D15S63 loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin-specific DNA methylation. The authors have found two Prader-Willi syndrome families in which the patients carry a maternal methylation imprint on the paternal chromosome. In one of these families, the patients have a small deletion encompassing the gene for the small nuclear ribonucleoprotein polypeptide N, which maps 130 kb telomeric to D15S63. Furthermore, they have identified a pair of nondeletion Angelman syndrome sibs and two isolated Angelman syndrome patients who carry a paternal methylation imprint on the maternal chromosome. These Angelman and Prader-Willi syndromemore » patients may have a defect in the imprinting process in 15q11-13. The authors propose a model in which a cis-acting mutation prevents the resetting of the imprinting signal in the germ line and thus disturbs the expression of imprinted genes in this region. 39 refs., 4 figs., 1 tab.« less

Religion as a means to assure paternity.

PubMed

Strassmann, Beverly I; Kurapati, Nikhil T; Hug, Brendan F; Burke, Erin E; Gillespie, Brenda W; Karafet, Tatiana M; Hammer, Michael F

2012-06-19

The sacred texts of five world religions (Buddhism, Christianity, Hinduism, Islam, and Judaism) use similar belief systems to set limits on sexual behavior. We propose that this similarity is a shared cultural solution to a biological problem: namely male uncertainty over the paternity of offspring. Furthermore, we propose the hypothesis that religious practices that more strongly regulate female sexuality should be more successful at promoting paternity certainty. Using genetic data on 1,706 father-son pairs, we tested this hypothesis in a traditional African population in which multiple religions (Islam, Christianity, and indigenous) coexist in the same families and villages. We show that the indigenous religion enables males to achieve a significantly (P = 0.019) lower probability of cuckoldry (1.3% versus 2.9%) by enforcing the honest signaling of menstruation, but that all three religions share tenets aimed at the avoidance of extrapair copulation. Our findings provide evidence for high paternity certainty in a traditional African population, and they shed light on the reproductive agendas that underlie religious patriarchy.

Religion as a means to assure paternity

PubMed Central

Strassmann, Beverly I.; Kurapati, Nikhil T.; Hug, Brendan F.; Burke, Erin E.; Gillespie, Brenda W.; Karafet, Tatiana M.; Hammer, Michael F.

2012-01-01

The sacred texts of five world religions (Buddhism, Christianity, Hinduism, Islam, and Judaism) use similar belief systems to set limits on sexual behavior. We propose that this similarity is a shared cultural solution to a biological problem: namely male uncertainty over the paternity of offspring. Furthermore, we propose the hypothesis that religious practices that more strongly regulate female sexuality should be more successful at promoting paternity certainty. Using genetic data on 1,706 father–son pairs, we tested this hypothesis in a traditional African population in which multiple religions (Islam, Christianity, and indigenous) coexist in the same families and villages. We show that the indigenous religion enables males to achieve a significantly (P = 0.019) lower probability of cuckoldry (1.3% versus 2.9%) by enforcing the honest signaling of menstruation, but that all three religions share tenets aimed at the avoidance of extrapair copulation. Our findings provide evidence for high paternity certainty in a traditional African population, and they shed light on the reproductive agendas that underlie religious patriarchy. PMID:22665788

Paternal Stimulation and Early Child Development in Low- and Middle-Income Countries.

PubMed

Jeong, Joshua; McCoy, Dana Charles; Yousafzai, Aisha K; Salhi, Carmel; Fink, Günther

2016-10-01

Few studies have examined the relationship between paternal stimulation and children's growth and development, particularly in low- and middle-income countries (LMICs). This study aimed to estimate the prevalence of paternal stimulation and to assess whether paternal stimulation was associated with early child growth and development. Data from the Multiple Indicator Cluster Surveys rounds 4 and 5 were combined across 38 LMICs. The sample comprised 87 286 children aged 3 and 4 years. Paternal stimulation was measured by the number of play and learning activities (up to 6) a father engaged in with his child over the past 3 days. Linear regression models were used to estimate standardized mean differences in height-for-age z-scores and Early Childhood Development Index (ECDI) z-scores across 3 levels of paternal stimulation, after controlling for other caregivers' stimulation and demographic covariates. A total of 47.8% of fathers did not engage in any stimulation activities, whereas 6.4% of fathers engaged in 5 or 6 stimulation activities. Children whose fathers were moderately engaged in stimulation (1-4 activities) showed ECDI scores that were 0.09 SD (95% confidence interval [CI]: -0.12 to -0.06) lower than children whose fathers were highly engaged; children whose fathers were unengaged showed ECDI scores that were 0.14 SD lower (95% CI: -0.17 to -0.12). Neither moderate paternal stimulation nor lack of paternal stimulation was associated with height-for-age z-scores, relative to high stimulation. Increasing paternal engagement in stimulation is likely to improve early child development in LMICs. Copyright © 2016 by the American Academy of Pediatrics.

Investigation of paternity establishing without the putative father using hypervariable DNA probes.

PubMed

Yokoi, T; Odaira, T; Nata, M; Sagisaka, K

1990-09-01

Seven kinds of DNA probes which recognize hypervariable loci were applied for paternity test. The putative father was decreased and unavailable for the test. The two legitimate children and their mother (the deceased's wife) and the four illegitimate children and their mother (the deceased's kept mistress) were available for analysis. Paternity index of four illegitimate child was investigated. Allelic frequencies and their confidence intervals among unrelated Japanese individuals were previously reported from our laboratory, and co-dominant segregation of the polymorphism was confirmed in family studies. Cumulative paternity indices of four illegitimate children from 16 kinds of standard blood group markers were 165, 42, 0.09, and 36, respectively. On the other hand, cumulative paternity indices from 7 kinds of DNA probes are 2,363, 4,685, 57,678, and 54,994, respectively, which are 14, 113, 640, 864, and 1,509 times higher than that from standard blood group markers. The DNA analyses gave nearly conclusive evidence that the putative father was the biological father of the children. Especially, the paternity relation of the third illegitimate child could not be established without the DNA analyses. Accordingly, DNA polymorphism is considered to be informative enough for paternity test.

Female and male genetic effects on offspring paternity: additive genetic (co)variances in female extra-pair reproduction and male paternity success in song sparrows (Melospiza melodia).

PubMed

Reid, Jane M; Arcese, Peter; Keller, Lukas F; Losdat, Sylvain

2014-08-01

Ongoing evolution of polyandry, and consequent extra-pair reproduction in socially monogamous systems, is hypothesized to be facilitated by indirect selection stemming from cross-sex genetic covariances with components of male fitness. Specifically, polyandry is hypothesized to create positive genetic covariance with male paternity success due to inevitable assortative reproduction, driving ongoing coevolution. However, it remains unclear whether such covariances could or do emerge within complex polyandrous systems. First, we illustrate that genetic covariances between female extra-pair reproduction and male within-pair paternity success might be constrained in socially monogamous systems where female and male additive genetic effects can have opposing impacts on the paternity of jointly reared offspring. Second, we demonstrate nonzero additive genetic variance in female liability for extra-pair reproduction and male liability for within-pair paternity success, modeled as direct and associative genetic effects on offspring paternity, respectively, in free-living song sparrows (Melospiza melodia). The posterior mean additive genetic covariance between these liabilities was slightly positive, but the credible interval was wide and overlapped zero. Therefore, although substantial total additive genetic variance exists, the hypothesis that ongoing evolution of female extra-pair reproduction is facilitated by genetic covariance with male within-pair paternity success cannot yet be definitively supported or rejected either conceptually or empirically. © 2014 The Author(s). Evolution published by Wiley Periodicals, Inc. on behalf of The Society for the Study of Evolution.

Effect of Paternal Age on Reproductive Outcomes of Intracytoplasmic Sperm Injection

PubMed Central

Zheng, Haiyan; Liu, Haiying; Huang, Qing; Liu, Jianqiao

2016-01-01

The impact of paternal age on reproduction, especially using assisted reproductive technologies, has not been well studied to date. To investigate the effect of paternal age on reproductive outcomes, here we performed a retrospective analysis of 2,627 intracytoplasmic sperm injection (ICSI) cycles performed at the Reproductive Medicine Center of the Third Affiliated Hospital of Guangzhou Medical University (China) between January 2007 and May 2015. Effect of paternal age on embryo quality [number of fertilized oocytes, 2 pronucleus zygotes (2PNs), viable embryos, and high-quality embryos] was analyzed by multiple linear regression. Relationships between paternal age and pregnancy outcomes were analyzed by binary logistic regression. After adjusting for female age, no association between paternal age and the following parameters of embryo quality was observed: number of fertilized oocytes (B = -0.032; 95% CI -0.069–0.005; P = 0.088), number of 2PNs (B = -0.005; 95% CI -0.044–0.034; P = 0.806), and number of viable embryos (B = -0.025; 95% CI -0.052–0.001; P = 0.062). However, paternal age negatively influenced the number of high-quality embryos (B = -0.020; 95% CI -0.040–0.000; P = 0.045). Moreover, paternal age had no effect on pregnancy outcomes (OR for a 5-year interval), including the rates of clinical pregnancy (OR 0.919; 95% CI 0.839–1.006; P = 0.067), ongoing pregnancy (OR 0.914; 95% CI 0.833–1.003; P = 0.058), early pregnancy loss (OR 1.019; 95% CI 0.823–1.263; P = 0.861), live births (OR 0.916; 95% CI 0.833–1.007; P = 0.070), and preterm births (OR 1.061; 95% CI 0.898–1.254; P = 0.485). Therefore, increased paternal age negatively influences the number of high-quality embryos, but has no effect on pregnancy outcomes in couples undergoing ICSI cycles. However, more studies including men aged over 60 years with a longer-term follow-up are needed. PMID:26901529

Fathers and Asthma Care: Paternal Involvement, Beliefs, and Management Skills

PubMed Central

Masek, Bruce; Barreto, Esteban; Baer, Lee; Lapey, Allen; Budge, Eduardo; McQuaid, Elizabeth L.

2015-01-01

Objective To compare asthma care roles of maternal and paternal caregivers, and examine associations between caregiver involvement and the outcomes of adherence, morbidity, and parental quality of life (QoL). Methods Mothers and fathers in 63 families of children, ages 5–9 years, with persistent asthma completed semistructured interviews and questionnaires. Adherence was measured via electronic monitoring. Paired t tests compared parental asthma care roles, and analysis of covariance, controlling for socioeconomic status, evaluated associations of asthma outcomes with caregiver involvement scores. Results Mothers had higher scores on measures of involvement, beliefs in medication necessity, and on four subscales of the Family Asthma Management System Scale interview (Asthma Knowledge, Relationship with Provider, Symptom Assessment, and Response to Symptoms). Maternal QoL was lowest when both maternal and paternal involvement was high. Paternal involvement was associated with increased morbidity. Conclusions There is room for enhancement of fathers’ asthma care roles. Higher levels of paternal involvement may be driven by family need. PMID:25922295

Paternal exposure and counselling: experience of a Teratology Information Service.

PubMed

De Santis, Marco; Cesari, Elena; Cavaliere, Annafranca; Ligato, Maria Serena; Nobili, Elena; Visconti, Daniela; Caruso, Alessandro

2008-09-01

We describe paternal exposure and counselling in a selected population calling to an Italian Teratology Information Service (TIS). The majority of callers asked for paternal drug exposure (76%, drugs except chemotherapy) and treatment for cancer (17%, chemotherapy and/or radiotherapy). Others asked for exposure to diagnostic radiations (4%), recreational drugs (2%) and occupational chemicals (1%). Among paternal drugs neurological compounds, immunosuppressive drugs and antiviral agents were the main reasons for calling. In humans, there are no evidences of birth defects after paternal exposures, but to minimize any possible risk, counselling in men exposed to radio and chemotherapy should recommend delaying conception for at least 3 months after the end of the therapy. Male patients treated with drugs, whose teratogenic potential has been well assessed or suspected for maternal exposure, should be advised to practice effective birth control during therapy and up to one or two cycles of spermatogenesis and to avoid semen contact with vaginal walls during first trimester of pregnancy.

Psychosocial factors associated with paternal postnatal depression.

PubMed

Demontigny, Francine; Girard, Marie-Eve; Lacharité, Carl; Dubeau, Diane; Devault, Annie

2013-08-15

While maternal postpartum depression is a well-known phenomenon, paternal postnatal depression has been less studied. It is known that paternal postnatal depression impacts on children's and families' development, affects marital satisfaction and affects the economic health of industrialized countries. The aim of this study was to identify the psychosocial factors associated with paternal postnatal depression. A descriptive-correlational study was conducted with a sample of fathers of infants (average age: 11 months) who were breastfed exclusively or predominantly for at least 6 months, comparing psychosocial factors in fathers with (n: 17, 8.2%) and without a positive score for depression on the EPDS scale (n: 188). Psychosocial factors were assessed through questionnaires. Depression in fathers of breastfed infants is associated with the experience of perinatal loss in a previous pregnancy, parenting distress, infant temperament (difficult child), dysfunctional interactions with the child, decreased marital adjustment and perceived low parenting efficacy. Multivariate analysis suggests an independent effect of psychosocial factors such as parenting distress, quality of the marital relationship and perceived parenting efficacy on paternal depression. The sample focused on fathers of breastfed infant, since breastfeeding has become the feeding norm, and this should be taken into account when considering the generalization of findings. These findings emphasize the need to consider a set of psychosocial factors when examining fathers' mental health in the first year of a child's birth. Health professionals can enhance parenting efficacy and alleviate parenting distress by supporting fathers' unique experiences and addressing their needs. Copyright © 2013 Elsevier B.V. All rights reserved.

Paternal age at birth is an important determinant of offspring telomere length.

PubMed

De Meyer, Tim; Rietzschel, Ernst R; De Buyzere, Marc L; De Bacquer, Dirk; Van Criekinge, Wim; De Backer, Guy G; Gillebert, Thierry C; Van Oostveldt, Patrick; Bekaert, Sofie

2007-12-15

Although evidence supports the function of telomere length (TL) as a marker for biological aging, no major determinants of TL are known besides inheritance, age and gender. Here we validate and, more importantly, assess the impact of paternal age at birth as a determinant for the offspring's peripheral blood leukocyte TL within the Asklepios study population. Telomere restriction fragment length and paternal age information were available for 2433 volunteers (1176 men and 1257 women) aged approximately 35-55 years old. Paternal age at birth was positively associated with offspring TL (offspring age and gender adjusted, P < 10 (-14)). The increase in TL was estimated at 17 base pairs for each supplemental year at birth and was not statistically different between male and female offspring. The effect size of paternal age outweighed the classical TL determinant gender by a factor of 2, demonstrating the large impact. Maternal age at birth was not independently associated with offspring TL. The peculiar interaction between paternal age at birth and inheritance might explain a large part of the genetic component of TL variance on a population level. This finding also provides further proof for the theory that TL is not completely reset in the zygote. Furthermore, as paternal age is subject to demographic evolution, its association with TL might have a substantial impact on the results and comparability of TL within and between epidemiological studies. In conclusion, paternal age is an important determinant for TL, with substantial consequences for future studies.

Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.

PubMed

Zhang, Kaihui; Liu, Shu; Feng, Bing; Yang, Yali; Zhang, Haiyan; Dong, Rui; Liu, Yi; Gai, Zhongtao

2016-01-01

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3. Three mechanisms are known to be involved in the pathogenesis: microdeletions, uniparental disomy (UPD) and imprinting defects. Both disorders are difficult to be definitely diagnosed at early age if no available molecular cytogenetic tests. In this study, we identified 5 AS patients with the maternal deletion and 26 PWS patients with paternal deletion on chr15q11-q13 by using an innovative multiplex-fluorescent-labeled short tandem repeats (STRs) assay based on linkage analysis, and validated by the methylation-specific PCR and array comparative genomic hybridization techniques. More interesting, one of these PWS patients was confirmed as maternal uniparental isodisomy by the STR linkage analysis. The phenotypic and genotypic characteristics of these individuals were also presented. Our results indicate that the new linkage analysis is much faster and easier for large-scale screening deletion and uniparental disomy, thus providing a valuable method for early diagnosis of PWS/AS patients, which is critical for genetic diagnosis, management and improvement of prognosis.

Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome

PubMed Central

Feng, Bing; Yang, Yali; Zhang, Haiyan; Dong, Rui; Liu, Yi; Gai, Zhongtao

2016-01-01

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3. Three mechanisms are known to be involved in the pathogenesis: microdeletions, uniparental disomy (UPD) and imprinting defects. Both disorders are difficult to be definitely diagnosed at early age if no available molecular cytogenetic tests. In this study, we identified 5 AS patients with the maternal deletion and 26 PWS patients with paternal deletion on chr15q11-q13 by using an innovative multiplex-fluorescent-labeled short tandem repeats (STRs) assay based on linkage analysis, and validated by the methylation-specific PCR and array comparative genomic hybridization techniques. More interesting, one of these PWS patients was confirmed as maternal uniparental isodisomy by the STR linkage analysis. The phenotypic and genotypic characteristics of these individuals were also presented. Our results indicate that the new linkage analysis is much faster and easier for large-scale screening deletion and uniparental disomy, thus providing a valuable method for early diagnosis of PWS/AS patients, which is critical for genetic diagnosis, management and improvement of prognosis. PMID:26841067

Paternal Autonomy Restriction, Neighborhood Safety, and Child Anxiety Trajectory in Community Youth.

PubMed

Cooper-Vince, Christine E; Chan, Priscilla T; Pincus, Donna B; Comer, Jonathan S

2014-07-01

Intrusive parenting, primarily examined among middle to upper-middle class mothers, has been positively associated with the presence and severity of anxiety in children. This study employed cross-sectional linear regression and longitudinal latent growth curve analyses to evaluate the main and interactive effects of early childhood paternal autonomy restriction (AR) and neighborhood safety (NS) on the trajectory of child anxiety in a sample of 596 community children and fathers from the NICHD SECYD. Longitudinal analyses revealed that greater paternal AR at age 6 was actually associated with greater decreases in child anxiety in later childhood. Cross-sectional analyses revealed main effects for NS across childhood, and interactive effects of paternal AR and NS that were present only in early childhood, whereby children living in safer neighborhoods demonstrated increased anxiety when experiencing lower levels of paternal AR. Findings further clarify for whom and when paternal AR impacts child anxiety in community youth.

Paternal Autonomy Restriction, Neighborhood Safety, and Child Anxiety Trajectory in Community Youth

PubMed Central

Cooper-Vince, Christine E.; Chan, Priscilla T.; Pincus, Donna B.; Comer, Jonathan S.

2014-01-01

Intrusive parenting, primarily examined among middle to upper-middle class mothers, has been positively associated with the presence and severity of anxiety in children. This study employed cross-sectional linear regression and longitudinal latent growth curve analyses to evaluate the main and interactive effects of early childhood paternal autonomy restriction (AR) and neighborhood safety (NS) on the trajectory of child anxiety in a sample of 596 community children and fathers from the NICHD SECYD. Longitudinal analyses revealed that greater paternal AR at age 6 was actually associated with greater decreases in child anxiety in later childhood. Cross-sectional analyses revealed main effects for NS across childhood, and interactive effects of paternal AR and NS that were present only in early childhood, whereby children living in safer neighborhoods demonstrated increased anxiety when experiencing lower levels of paternal AR. Findings further clarify for whom and when paternal AR impacts child anxiety in community youth. PMID:25242837

Nudging towards nutrition? Soft paternalism and obesity-related reform.

PubMed

Hector, Colin

2012-01-01

Obesity is one of the most contentious issues facing the United States today. Some researchers warn of an obesity "epidemic" that poses a grave threat to our nation's health, while others attack these claims as alarmist and misguided. This divide reinforces the political schism between advocates of government intervention and anti-regulatory groups. As a result, obesity science finds itself entangled in partisan battles that leave little room for compromise. This paper explores the potential for the political philosophy of soft paternalism to provide a regulatory framework that may appeal to both sides of the obesity reform debate. Soft paternalism draws upon social science research in order to develop policies that encourage better decision-making, while preserving individual choice. Applying this framework to the issue of obesity, I look at two areas of potential reform: 1) information-based policies such as nutritional label design, and 2) policies that affect default choices, such as portion size norms. I find that while soft paternalism is an appealing framework that offers many promising reforms, it is not a panacea. Instead, I argue that these proposals should be considered on their own merit, not as a complete solution precluding other measures. In addition, in light of potential criticism concerning the stigmatizing effect of some obesity-related measures, I suggest that reforms based on soft paternalism can and should be tailored to promote more mindful eating habits. With these concerns in mind, I conclude that soft paternalism is a promising approach that warrants serious consideration by policymakers.

Paternal identity impacts embryonic development for two species of freshwater fish.

PubMed

Siddique, Mohammad Abdul Momin; Linhart, Otomar; Krejszeff, Sławomir; Żarski, Daniel; Pitcher, Trevor E; Politis, Sebastian Nikitas; Butts, Ian Anthony Ernest

2017-05-01

Paternal, compared to maternal, contributions were believed to have only a limited influence on embryonic development and larval fitness traits in fishes. Therefore, the perspective of male influence on early life history traits has come under scrutiny. This study was conducted to determine parental effects on the rate of eyed embryos of Ide Leuciscus idus and Northern pike Esox lucius. Five sires and five dams from each species were crossed using a quantitative genetic breeding design and the resulting 25 sib groups of each species were reared to the embryonic eyed stage. We then partition variation in embryonic phenotypic performance to maternal, paternal, and parental interactions using the Restricted Maximum Likelihood (REML) model. Results showed that paternal, maternal, and the paternal×maternal interaction terms were highly significant for both species; clearly demonstrating that certain family combinations were more compatible than others. Paternal effects explained 20.24% of the total variance, which was 2-fold higher than the maternal effects (10.73%) in Ide, while paternal effects explained 18.9% of the total variance, which was 15-fold higher than the maternal effects (1.3%) in Northern pike. Together, these results indicate that male effects are of major importance during embryonic development for these species. Furthermore, this study demonstrates that genetic compatibility between sires and dams plays an important role and needs to be taken into consideration for reproduction of these and likely other economically important fish species. Copyright © 2016 Elsevier Inc. All rights reserved.

Female control of paternity in the sexually cannibalistic spider Argiope keyserlingi.

PubMed Central

Elgar, M A; Schneider, J M; Herberstein, M E

2000-01-01

Sexual conflict theory predicts an antagonistic coevolution, with each sex evolving adaptations and counter-adaptations to overcome a temporary dominance of the other sex over the control of paternity. Polyandry allows sexual selection to operate after mating has commenced, with male and female interests competing for control of fertilization. There are numerous examples of male control of paternity, but few studies have unambiguously revealed female control. Attributing variance in paternity to females is often difficult since male and female influences cannot be separated unambiguously. However, we show that polyandrous female orb-web spiders Argiope keserlingi (Arancidae) control the paternity of their offspring by adjusting the timing of sexual cannibalism. Our experiments reveal that females copulating with relatively smaller males delay sexual cannibalism, thereby prolonging the duration of copulation, and that these males consequently fertilize relatively more eggs. PMID:11133035

Paternal age and intelligence: implications for age-related genomic changes in male germ cells.

PubMed

Malaspina, Dolores; Reichenberg, Avi; Weiser, Mark; Fennig, Shmuel; Davidson, Michael; Harlap, Susan; Wolitzky, Rachel; Rabinowitz, Jonathan; Susser, Ezra; Knobler, Haim Y

2005-06-01

A robust association between advancing paternal age and schizophrenia risk is reported, and genetic changes in the germ cells of older men are presumed to underlie the effect. If that is so, then the pathway may include effects on cognition, as those with premorbid schizophrenia are reported to have lower intelligence. There are also substantial genetic influences on intelligence, so de novo genetic events in male germ cells, which accompany advancing paternal age, may plausibly influence offspring intelligence. An association of paternal age with IQ in healthy adolescents may illuminate the mechanisms that link it to schizophrenia. We examined the association of paternal age and IQ scores using the Israeli Army Board data on 44 175 individuals from a richly described birth cohort, along with maternal age and other potential modifiers. A significant inverted U-shaped relationship was observed between paternal age and IQ scores, which was independent from a similar association of IQ scores with maternal age. These relationships were not significantly attenuated by controlling for multiple possible confounding factors, including the other parent's age, parental education, social class, sex and birth order, birth weight and birth complications. Overall, parental age accounted for approximately 2% of the total variance in IQ scores, with later paternal age lowering non-verbal IQ scores more than verbal IQ scores. We found independent effects of maternal and paternal age on offspring IQ scores. The paternal age effect may be explained by de novo mutations or abnormal methylation of paternally imprinted genes, whereas maternal age may affect fetal neurodevelopment through age-related alterations in the in-utero environment. The influence of late paternal age to modify non-verbal IQ may be related to the pathways that increase the risk for schizophrenia in the offspring of older fathers.

Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype.

PubMed

Milner, Katja M; Craig, Ellen E; Thompson, Russell J; Veltman, Marijcke W M; Thomas, N Simon; Roberts, Sian; Bellamy, Margaret; Curran, Sarah R; Sporikou, Caroline M J; Bolton, Patrick F

2005-10-01

Studies of chromosome 15 abnormality have implicated over-expression of paternally imprinted genes in the 15q11-13 region in the aetiology of autism. To test this hypothesis we compared individuals with Prader-Willi syndrome (PWS) due to uniparental disomy (UPD--where paternally imprinted genes are over-expressed) to individuals with the 15q11-13 deletion form of the syndrome (where paternally imprinted genes are not over-expressed). We also tested reports that PWS cases due to the larger type I (TI) form of deletion show differences to cases with the smaller type II (TII) deletion. Ninety-six individuals with PWS were recruited from genetic centres and the PWS association. Forty-nine individuals were confirmed as having maternal UPD of chromosome 15 and were age and sex matched to 47 individuals with a deletion involving 15q11-13 (32 had the shorter (T II) deletion, and 14 had the longer (TI) deletion). Behavioural assessments were carried out blind to genetic status, using the Autism Diagnostic Observation Schedule (ADOS), the Autism Diagnostic Interview (ADI), the Autism Screening Questionnaire (ASQ), the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS), the Vineland Adaptive Behaviour Scales (VABS), and measurements of intellectual ability, including the Wechsler and Mullen Scales and Raven's Matrices. UPD cases exhibited significantly more autistic-like impairments in reciprocal social interaction on questionnaire, interview and standardised observational measures. Comparison of TI and TII deletion cases revealed few differences, but ability levels tended to be lower in the TI deletion cases. Findings from a large study comparing deletion and UPD forms of Prader-Willi syndrome were consistent with other evidence in indicating that paternally imprinted genes in the 15q11-13 region constitute a genetic risk factor for aspects of autistic symptomatology. These genes may therefore play a role in the aetiology of autism. By contrast with another report

The Impact of Paternal and Maternal Smoking on Semen Quality of Adolescent Men.

PubMed

Axelsson, Jonatan; Rylander, Lars; Rignell-Hydbom, Anna; Silfver, Karl Ågren; Stenqvist, Amelie; Giwercman, Aleksander

2013-01-01

Maternal smoking during pregnancy has been reported to negatively impact sperm counts of the sons. Sufficient data on the effect of paternal smoking is lacking. We wished to elucidate the impact of maternal and paternal smoking during pregnancy and current own smoking on reproductive function of the male offspring. Semen parameters including sperm DNA integrity were analyzed in 295 adolescents from the general population close to Malmö, Sweden, recruited for the study during 2008-2010. Information on maternal smoking was obtained from the Swedish Medical Birth Register, and regarding own and paternal smoking from questionnaires. The impacts of maternal, paternal and own smoking were evaluated in a multivariate regression model and by use of models including interaction terms. Totally, three exposures and five outcomes were evaluated. In maternally unexposed men, paternal smoking was associated with 46% lower total sperm count (95%CI: 21%, 64%) in maternally unexposed men. Both paternal and maternal smoking were associated with a lower sperm concentration (mean differences: 35%; 95%CI: 8.1%, 55% and 36%; 95%CI: 3.9%, 57%, respectively) if the other parent was a non-smoker. No statistically significant impact of own smoking on semen parameters was seen. Prenatal both maternal and paternal smoking were separately associated with some decrease in sperm count in men of whom the other parent was not reported to smoke.

Multiple ways to prevent transmission of paternal mitochondrial DNA for maternal inheritance in animals.

PubMed

Sato, Ken; Sato, Miyuki

2017-10-01

Mitochondria contain their own DNA (mtDNA). In most sexually reproducing organisms, mtDNA is inherited maternally (uniparentally); this type of inheritance is thus referred to as 'maternal (uniparental) inheritance'. Recent studies have revealed various mechanisms to prevent the transmission of sperm-derived paternal mtDNA to the offspring, thereby ensuring maternal inheritance of mtDNA. In the nematode Caenorhabditis elegans, paternal mitochondria and their mtDNA degenerate almost immediately after fertilization and are selectively degraded by autophagy, which is referred to as 'allophagy' (allogeneic [non-self] organelle autophagy). In the fruit fly Drosophila melanogaster, paternal mtDNA is largely eliminated by an endonuclease G-mediated mechanism. Paternal mitochondria are subsequently removed by endocytic and autophagic pathways after fertilization. In many mammals, including humans, paternal mitochondria enter fertilized eggs. However, the fate of paternal mitochondria and their mtDNA in mammals is still a matter of debate. In this review, we will summarize recent knowledge on the molecular mechanisms underlying the prevention of paternal mtDNA transmission, which ensures maternal mtDNA inheritance in animals. © The Authors 2017. Published by Oxford University Press on behalf of the Japanese Biochemical Society. All rights reserved.

Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome.

PubMed

Ostergaard, John R

2015-09-01

This report describes the phenotype, from early childhood to adolescence, of a girl with Angelman syndrome (AS) born following a maternal transmission of a germline paternal 15q11.2-q13 deletion. During early childhood, she showed a typical AS phenotype, such as jerky movements, poor sleep, high voltage electroencephalography pattern, epilepsy, and a severe developmental disability. As she grew older, indications of phenotypical traits similar to Prader-Willi syndrome (PWS) appeared, in particular hyperphagic behavior and a body fat distribution similar to that reported in PWS. She generally showed cheerful AS behavior and had the characteristic outbursts of laughter, but her attitude to other people did not reflect the usual shared enjoyment of interaction seen in children with AS. In unfamiliar surroundings, she withdrew socially, similar to children with PWS, and her insistence on the same, rigid routines was similar to behavior patterns in PWS. The dysmorphic facial features that characterize AS were blurred in adolescence. The specified features that this AS patient had in common with PWS were hardly incidental and, if verified by upcoming case reports of children born to women with a paternal 15q11.2-q13 deletion, they may show new aspects of genetic imprinting. © 2015 Wiley Periodicals, Inc.

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

PubMed Central

2011-01-01

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS. PMID:21503198

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome.

PubMed

Jin, Dong Kyu

2011-02-01

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

Paternity leave in Sweden: costs, savings and health gains.

PubMed

Månsdotter, Anna; Lindholm, Lars; Winkvist, Anna

2007-06-01

The initial objective is to examine the relationship between paternity leave in 1978-1979 and male mortality during 1981-2001, and the second objective is to calculate the cost-effectiveness of the 1974 parental insurance reform in Sweden. Based on a population of all Swedish couples who had their first child together in 1978 (45,801 males), the risk of death for men who took paternity leave, compared with men who did not, was estimated by odds ratios. The cost-effectiveness analysis considered costs for information, administration and production losses, minus savings due to decreased sickness leave and inpatient care, compared to health gains in life-years and quality-adjusted life-years (QALYs). It is demonstrated that fathers who took paternity leave have a statistically significant decreased death risk of 16%. Costs minus savings (discounted values) stretch from a net cost of EUR 19 million to a net saving of EUR 11 million, and the base case cost-effectiveness is EUR 8000 per QALY. The study indicates that that the right to paternity leave is a desirable reform based on commonly stated public health, economic, and feminist goals. The critical issue in future research should be to examine impact from health-related selection.

Paternal age and twinning in the Jerusalem Perinatal Study

PubMed Central

Kleinhaus, Karine; Perrin, Mary C.; Manor, O; Friedlander, Yehiel; Calderon-Margalit, Ronit; Harlap, Susan; Malaspina, Dolores

2008-01-01

Objective To investigate whether incidence of twin deliveries is related to father's age, independently of mother's age, and whether it differs for same-sex or opposite-sex twin sets. Study Design In a program of research on effects of paternal age, this study used data from a prospective cohort of 92,408 offspring born in Jerusalem from 1964-1976. Of the 91,253 deliveries in the Jerusalem Perinatal Study, 1,115 were twin deliveries. The data were analyzed with General Estimate Equations to inform unconditional logistic regression. Results After controlling for maternal age, Odds Ratios (OR) and 95% Confidence Intervals (95% CI) associated with father's ages 25-34 and 35+ were 1.3 (1.1, 1.7) and 1.5 (1.2, 2.1) respectively, compared with fathers <25 years old. The effect of maternal age was partly explained by paternal age. The ORs for opposite-sex twin sets and male-male twin sets increased slightly with paternal age, while the OR for same-sex and female-female twin decreased. Conclusion Studies of twins are used to estimate effects of genes and environment in a variety of diseases. Our findings highlight the need to consider paternal as well as maternal age when analyzing data on twins to explore etiology of diseases. PMID:18771839

Paternal and maternal psychological and physical aggression and children's anxiety in China.

PubMed

Wang, Meifang; Wang, Xinxin; Liu, Li

2016-01-01

The goal of this research was to examine the unique relationships between paternal and maternal psychological aggression (PA) and physical aggression (corporal punishment [CP] and severe physical abuse [SPA]) and children's anxiety in China. A total of 1,971 father-mother dyads completed the Chinese version of Parent-Child Conflict Tactics Scales (CTSPC) and the Chinese version of Spence Children's Anxiety Scale for Parents (SCAS-P). Results indicated that when paternal and maternal PA, CP, and SPA were considered simultaneously, parental PA and maternal CP were both significantly predictive of children's anxiety, whereas SPA had no significant effects on children's anxiety. Specifically, both paternal and maternal PA were the most unique predictors of children's anxiety among parental psychological and physical aggression, whereas the effects of maternal CP and paternal CP were different, with maternal CP having a stronger effect on children's anxiety compared with paternal CP. The findings indicated that appropriate prevention and intervention efforts are needed to target parental PA and maternal CP. Copyright © 2015 Elsevier Ltd. All rights reserved.

EARLY ONSET OF CRANIOSYNOSTOSIS IN AN APERT MOUSE MODEL REVEALS CRITICAL FEATURES OF THIS PATHOLOGY

PubMed Central

Holmes, Greg; Rothschild, Gerson; Roy, Upal Basu; Deng, Chu-Xia; Mansukhani, Alka; Basilico, Claudio

2009-01-01

Activating mutations of FGFRs1–3 cause craniosynostosis (CS), the premature fusion of cranial bones, in man and mouse. The mechanisms by which such mutations lead to CS have been variously ascribed to increased osteoblast proliferation, differentiation, and apoptosis, but it is not always clear how these disturbances relate to the process of suture fusion. We have reassessed coronal suture fusion in an Apert Fgfr2 (S252W) mouse model. We find that the critical event of CS is the early loss of basal sutural mesenchyme as the osteogenic fronts, expressing activated Fgfr2, unite to form a contiguous skeletogenic membrane. A mild increase in osteoprogenitor proliferation precedes but does not accompany this event, and apoptosis is insignificant. On the other hand, the more apical coronal suture initially forms appropriately but then undergoes fusion, albeit at a slower rate, accompanied by a significant decrease in osteoprogenitor proliferation, and increased osteoblast maturation. Apoptosis now accompanies fusion, but is restricted to bone fronts in contact with one another. We correlated these in vivo observations with the intrinsic effects of the activated Fgfr2 S252W mutation in primary osteoblasts in culture, which show an increased capacity for both proliferation and differentiation. Our studies suggest that the major determinant of Fgfr2-induced craniosynostosis is the failure to respond to signals that would halt the recruitment or the advancement of osteoprogenitor cells at the sites where sutures should normally form. PMID:19389359

Elevated paternal glucocorticoid exposure modifies memory retention in female offspring.

PubMed

Yeshurun, Shlomo; Rogers, Jake; Short, Annabel K; Renoir, Thibault; Pang, Terence Y; Hannan, Anthony J

2017-09-01

Recent studies have demonstrated that behavioral traits are subject to transgenerational modification by paternal environmental factors. We previously reported on the transgenerational influences of increased paternal stress hormone levels on offspring anxiety and depression-related behaviors. Here, we investigated whether offspring sociability and cognition are also influenced by paternal stress. Adult C57BL/6J male mice were treated with corticosterone (CORT; 25mg/L) for four weeks prior to paired-matings to generate F1 offspring. Paternal CORT treatment was associated with decreased body weights of female offspring and a marked reduction of the male offspring. There were no differences in social behavior of adult F1 offspring in the three-chamber social interaction test. Despite male offspring of CORT-treated fathers displaying hyperactivity in the Y-maze, there was no observable difference in short-term spatial working memory. Spatial learning and memory testing in the Morris water maze revealed that female, but not male, F1 offspring of CORT-treated fathers had impaired memory retention. We used our recently developed methodology to analyze the spatial search strategy of the mice during the learning trials and determined that the impairment could not be attributed to underlying differences in search strategy. These results provide evidence for the impact of paternal corticosterone administration on offspring cognition and complement the cumulative knowledge of transgenerational epigenetic inheritance of acquired traits in rodents and humans. Copyright © 2017 Elsevier Ltd. All rights reserved.

Paternal age of schizophrenia probands and endophenotypic differences from unaffected siblings.

PubMed

Schmeidler, James; Lazzeroni, Laura C; Swerdlow, Neal R; Ferreira, Rui P; Braff, David L; Calkins, Monica E; Cadenhead, Kristin S; Freedman, Robert; Green, Michael F; Greenwood, Tiffany A; Gur, Raquel E; Gur, Ruben C; Light, Gregory A; Olincy, Ann; Nuechterlein, Keith H; Radant, Allen D; Seidman, Larry J; Siever, Larry J; Stone, William S; Sprock, Joyce; Sugar, Catherine A; Tsuang, Debby W; Tsuang, Ming T; Turetsky, Bruce I; Silverman, Jeremy M

2014-09-30

We evaluated the discrepancy of endophenotypic performance between probands with schizophrenia and unaffected siblings by paternal age at proband birth, a possible marker for de novo mutations. Pairs of schizophrenia probands and unaffected siblings (N=220 pairs) were evaluated on 11 neuropsychological or neurophysiological endophenotypes previously identified as heritable. For each endophenotype, the sibling-minus-proband differences were transformed to standardized scores. Then for each pair, the average discrepancy was calculated from its standardized scores. We tested the hypothesis that the discrepancy is associated with paternal age, controlling for the number of endophenotypes shared between proband and his or her sibling, and proband age, which were both associated with paternal age. The non-significant association between the discrepancy and paternal age was in the opposite direction from the hypothesis. Of the 11 endophenotypes only sensori-motor dexterity was significant, but in the opposite direction. Eight other endophenotypes were also in the opposite direction, but not significant. The results did not support the hypothesized association of increased differences between sibling/proband pairs with greater paternal age. A possible explanation is that the identification of heritable endophenotypes was based on samples for which schizophrenia was attributable to inherited rather than de novo/non-inherited causes. Published by Elsevier Ireland Ltd.

A Osteogenesis Distraction Device Enabling Control of Vertical Direction for Syndromic Craniosynostosis

PubMed Central

Fukawa, Toshihiko; Hirakawa, Takashi; Maegawa, Jiro

2014-01-01

Background: We have developed a hybrid facial osteogenesis distraction system that combines the advantages of external and internal distraction devices to enable control of both the distraction distance and vector. However, when the advanced maxilla has excessive clockwise rotation and shifts more downward vertically than planned, it might be impossible to pull it up to correct it. We invented devices attached to external distraction systems that can control the vertical vector of distraction to resolve this problem. The purpose of this article is to describe the result of utilizing the distraction system for syndromic craniosynostosis. Methods: In addition to a previously reported hybrid facial distraction system, the devices for controlling the vertical direction of the advanced maxilla were attached to the external distraction device. The vertical direction of the advanced maxilla can be controlled by adjustment of the spindle units. This system was used for 2 patients with Crouzon and Apert syndrome. Results: The system enabled control of the vertical distance, with no complications during the procedures. As a result, the maxilla could be advanced into the planned position including overcorrection without excessive clockwise rotation of distraction. Conclusion: Our system can alter the cases and bring them into the planned position, by controlling the vertical vector of distraction. We believe that this system might be effective in infants with syndromic craniosynostosis as it involves 2 osteotomies and horizontal and vertical direction of elongation can be controlled. PMID:25289307

Shared decision making, paternalism and patient choice.

PubMed

Sandman, Lars; Munthe, Christian

2010-03-01

In patient centred care, shared decision making is a central feature and widely referred to as a norm for patient centred medical consultation. However, it is far from clear how to distinguish SDM from standard models and ideals for medical decision making, such as paternalism and patient choice, and e.g., whether paternalism and patient choice can involve a greater degree of the sort of sharing involved in SDM and still retain their essential features. In the article, different versions of SDM are explored, versions compatible with paternalism and patient choice as well as versions that go beyond these traditional decision making models. Whenever SDM is discussed or introduced it is of importance to be clear over which of these different versions are being pursued, since they connect to basic values and ideals of health care in different ways. It is further argued that we have reason to pursue versions of SDM involving, what is called, a high level dynamics in medical decision-making. This leaves four alternative models to choose between depending on how we balance between the values of patient best interest, patient autonomy, and an effective decision in terms of patient compliance or adherence: Shared Rational Deliberative Patient Choice, Shared Rational Deliberative Paternalism, Shared Rational Deliberative Joint Decision, and Professionally Driven Best Interest Compromise. In relation to these models it is argued that we ideally should use the Shared Rational Deliberative Joint Decision model. However, when the patient and professional fail to reach consensus we will have reason to pursue the Professionally Driven Best Interest Compromise model since this will best harmonise between the different values at stake: patient best interest, patient autonomy, patient adherence and a continued care relationship.

Fathers and Asthma Care: Paternal Involvement, Beliefs, and Management Skills.

PubMed

Friedman, Deborah; Masek, Bruce; Barreto, Esteban; Baer, Lee; Lapey, Allen; Budge, Eduardo; McQuaid, Elizabeth L

2015-09-01

To compare asthma care roles of maternal and paternal caregivers, and examine associations between caregiver involvement and the outcomes of adherence, morbidity, and parental quality of life (QoL). Mothers and fathers in 63 families of children, ages 5-9 years, with persistent asthma completed semistructured interviews and questionnaires. Adherence was measured via electronic monitoring. Paired t tests compared parental asthma care roles, and analysis of covariance, controlling for socioeconomic status, evaluated associations of asthma outcomes with caregiver involvement scores. Mothers had higher scores on measures of involvement, beliefs in medication necessity, and on four subscales of the Family Asthma Management System Scale interview (Asthma Knowledge, Relationship with Provider, Symptom Assessment, and Response to Symptoms). Maternal QoL was lowest when both maternal and paternal involvement was high. Paternal involvement was associated with increased morbidity. There is room for enhancement of fathers' asthma care roles. Higher levels of paternal involvement may be driven by family need. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Advantageous developmental outcomes of advancing paternal age

PubMed Central

Janecka, M; Rijsdijk, F; Rai, D; Modabbernia, A; Reichenberg, A

2017-01-01

Advanced paternal age (APA) at conception has been associated with negative outcomes in offspring, raising concerns about increasing age at fatherhood. Evidence from evolutionary and psychological research, however, suggests possible link between APA and a phenotypic advantage. We defined such advantage as educational success, which is positively associated with future socioeconomic status. We hypothesised that high IQ, strong focus on the subject of interest and little concern about ‘fitting in’ will be associated with such success. Although these traits are continuously distributed in the population, they cluster together in so-called ‘geeks’. We used these measures to compute a ‘geek index’ (GI), and showed it to be strongly predictive of future academic attainment, beyond the independent contribution of the individual traits. GI was associated with paternal age in male offspring only, and mediated the positive effects of APA on education outcomes, in a similar sexually dimorphic manner. The association between paternal age and GI was partly mediated by genetic factors not correlated with age at fatherhood, suggesting contribution of de novo factors to the ‘geeky’ phenotype. Our study sheds new light on the multifaceted nature of the APA effects and explores the intricate links between APA, autism and talent. PMID:28632201

Fast versus slow larval growth in an invasive marine mollusc: does paternity matter?

PubMed

Le Cam, Sabrina; Pechenik, Jan A; Cagnon, Mathilde; Viard, Frédérique

2009-01-01

Reproductive strategies and parental effects play a major role in shaping early life-history traits. Although polyandry is a common reproductive strategy, its role is still poorly documented in relation to paternal effects. Here, we used as a case study the invasive sessile marine gastropod Crepidula fornicata, a mollusc with polyandry and extreme larval growth variation among sibling larvae. Based on paternity analyses, the relationships between paternal identity and the variations in a major early life-history trait in marine organisms, that is, larval growth, were investigated. Using microsatellite markers, paternities of 437 fast- and slow-growing larvae from 6 broods were reliably assigned to a set of 20 fathers. No particular fathers were found responsible for the specific growth performances of their offspring. However, the range of larval growth rates within a brood was significantly correlated to 1) an index of sire diversity and 2) the degree of larvae relatedness within broods. Multiple paternity could thus play an important role in determining the extent of pelagic larval duration and consequently the range of dispersal distances achieved during larval life. This study also highlighted the usefulness of using indices based on fathers' relative contribution to the progeny in paternity studies.

Paternal-age and birth-order effect on the human secondary sex ratio.

PubMed Central

Ruder, A

1985-01-01

Because of conflicting results in previous analyses of possible maternal and paternal effects on the variation in sex ratio at birth, records of United States live births in 1975 were sorted by offspring sex, live birth order (based on maternal parity), parental races, and, unlike prior studies, ungrouped parental ages. Linear regression and logistic analysis showed significant effects of birth order and paternal age on sex ratio in the white race data (1.67 million births; 10,219 different combinations of independent variables). Contrary to previous reported results, the paternal-age effect cannot be ascribed wholly to the high correlation between paternal age and birth order as maternal age, even more highly correlated with birth order, does not account for a significant additional reduction in sex-ratio variation over that accounted for by birth order alone. PMID:3985011

Paternal Body Mass Index (BMI) Is Associated with Offspring Intrauterine Growth in a Gender Dependent Manner

PubMed Central

Chen, You-Peng; Xiao, Xiao-Min; Li, Jian; Reichetzeder, Christoph; Wang, Zi-Neng; Hocher, Berthold

2012-01-01

Background Environmental alternations leading to fetal programming of cardiovascular diseases in later life have been attributed to maternal factors. However, animal studies showed that paternal obesity may program cardio-metabolic diseases in the offspring. In the current study we tested the hypothesis that paternal BMI may be associated with fetal growth. Methods and Results We analyzed the relationship between paternal body mass index (BMI) and birth weight, ultrasound parameters describing the newborn's body shape as well as parameters describing the newborns endocrine system such as cortisol, aldosterone, renin activity and fetal glycated serum protein in a birth cohort of 899 father/mother/child triplets. Since fetal programming is an offspring sex specific process, male and female offspring were analyzed separately. Multivariable regression analyses considering maternal BMI, paternal and maternal age, hypertension during pregnancy, maternal total glycated serum protein, parity and either gestational age (for birth weight) or time of ultrasound investigation (for ultrasound parameters) as confounding showed that paternal BMI is associated with growth of the male but not female offspring. Paternal BMI correlated with birth parameters of male offspring only: birth weight; biparietal diameter, head circumference; abdominal diameter, abdominal circumference; and pectoral diameter. Cortisol was likewise significantly correlated with paternal BMI in male newborns only. Conclusions Paternal BMI affects growth of the male but not female offspring. Paternal BMI may thus represent a risk factor for cardiovascular diseases of male offspring in later life. It remains to be demonstrated whether this is linked to an offspring sex specific paternal programming of cortisol secretion. PMID:22570703

Fibroblast growth factor receptors, developmental corruption and malignant disease.

PubMed

Kelleher, Fergal C; O'Sullivan, Hazel; Smyth, Elizabeth; McDermott, Ray; Viterbo, Antonella

2013-10-01

Fibroblast growth factors (FGF) are a family of ligands that bind to four different types of cell surface receptor entitled, FGFR1, FGFR2, FGFR3 and FGFR4. These receptors differ in their ligand binding affinity and tissue distribution. The prototypical receptor structure is that of an extracellular region comprising three immunoglobulin (Ig)-like domains, a hydrophobic transmembrane segment and a split intracellular tyrosine kinase domain. Alternative gene splicing affecting the extracellular third Ig loop also creates different receptor isoforms entitled FGFRIIIb and FGFRIIIc. Somatic fibroblast growth factor receptor (FGFR) mutations are implicated in different types of cancer and germline FGFR mutations occur in developmental syndromes particularly those in which craniosynostosis is a feature. The mutations found in both conditions are often identical. Many somatic FGFR mutations in cancer are gain-of-function mutations of established preclinical oncogenic potential. Gene amplification can also occur with 19-22% of squamous cell lung cancers for example having amplification of FGFR1. Ontologic comparators can be informative such as aberrant spermatogenesis being implicated in both spermatocytic seminomas and Apert syndrome. The former arises from somatic FGFR3 mutations and Apert syndrome arises from germline FGFR2 mutations. Finally, therapeutics directed at inhibiting the FGF/FGFR interaction are a promising subject for clinical trials.

Face Discrimination Skills in Prader-Willi Syndrome and Autism Spectrum Disorder

ERIC Educational Resources Information Center

Feldman, Benjamin H.; Dimitropoulos, Anastasia

2014-01-01

Individuals with Prader-Willi Syndrome (PWS) are at risk for autism spectrum disorder (ASD), including socialization problems. The PWS chromosome 15q11-13 maternal uniparental disomy (mUPD) subtype displays greater ASD symptoms than the paternal deletion (DEL) subtype. Since interpreting faces leads to successful socialization, we compared face…

Paternal leakage of mitochondrial DNA in experimental crosses of populations of the potato cyst nematode Globodera pallida.

PubMed

Hoolahan, Angelique H; Blok, Vivian C; Gibson, Tracey; Dowton, Mark

2011-12-01

Animal mtDNA is typically assumed to be maternally inherited. Paternal mtDNA has been shown to be excluded from entering the egg or eliminated post-fertilization in several animals. However, in the contact zones of hybridizing species and populations, the reproductive barriers between hybridizing organisms may not be as efficient at preventing paternal mtDNA inheritance, resulting in paternal leakage. We assessed paternal mtDNA leakage in experimental crosses of populations of a cyst-forming nematode, Globodera pallida. A UK population, Lindley, was crossed with two South American populations, P5A and P4A. Hybridization of these populations was supported by evidence of nuclear DNA from both the maternal and paternal populations in the progeny. To assess paternal mtDNA leakage, a ~3.4 kb non-coding mtDNA region was analyzed in the parental populations and in the progeny. Paternal mtDNA was evident in the progeny of both crosses involving populations P5A and P4A. Further, paternal mtDNA replaced the maternal mtDNA in 22 and 40 % of the hybrid cysts from these crosses, respectively. These results indicate that under appropriate conditions, paternal leakage occurs in the mtDNA of parasitic nematodes, and supports the hypothesis that hybrid zones facilitate paternal leakage. Thus, assumptions of strictly maternal mtDNA inheritance may be frequently violated, particularly when divergent populations interbreed.

Establishing paternity in Whooping Cranes (Grus americana) by DNA analysis

USGS Publications Warehouse

Longmire, Jonathan L.; Gee, George F.; Hardekopf, C.L.; Mark, G.A.

1992-01-01

DNA fingerprinting was used to study paternity and genetic variability within a captive flock of Whooping Cranes (Grus americana). Fingerprint patterns for 42 individuals were obtained by digesting genomic crane DNAs with HaeIII followed by electrophoresis, blotting, and hybridization to the M13 minisatellite probe. Despite finding reduced levels of genetic variation in the Whooping Crane due to a population "bottleneck," these polymorphisms were successfully used to determine paternity in six of seven cases of captive propagation where the maternal-offspring relationship was known, but where the sire was unknown. These determinations of paternity are required for effective genetic management of the crane flock. These results also revealed a number of heterozygous minisatellite loci that will be valuable in future assessments of genetic variability in this endangered species.

The association between paternal sensitivity and infant-father attachment security: a meta-analysis of three decades of research.

PubMed

Lucassen, Nicole; Tharner, Anne; Van Ijzendoorn, Marinus H; Bakermans-Kranenburg, Marian J; Volling, Brenda L; Verhulst, Frank C; Lambregtse-Van den Berg, Mijke P; Tiemeier, Henning

2011-12-01

For almost three decades, the association between paternal sensitivity and infant-father attachment security has been studied. The first wave of studies on the correlates of infant-father attachment showed a weak association between paternal sensitivity and infant-father attachment security (r = .13, p < .001, k = 8, N = 546). In the current paper, a meta-analysis of the association between paternal sensitivity and infant-father attachment based on all studies currently available is presented, and the change over time of the association between paternal sensitivity and infant-father attachment is investigated. Studies using an observational measure of paternal interactive behavior with the infant, and the Strange Situation Procedure to observe the attachment relationship were included. Paternal sensitivity is differentiated from paternal sensitivity combined with stimulation in the interaction with the infant. Higher levels of paternal sensitivity were associated with more infant-father attachment security (r = .12, p < .001, k = 16, N = 1,355). Fathers' sensitive play combined with stimulation was not more strongly associated with attachment security than sensitive interactions without stimulation of play. Despite possible changes in paternal role patterns, we did not find stronger associations between paternal sensitivity and infant attachment in more recent years.

Religion, Convention, and Paternal Involvement.

ERIC Educational Resources Information Center

Wilcox, W. Bradford

2002-01-01

Examines the influence of religious affiliation and attendance on the involvement of residential fathers in one-on-one activities, dinner with their families, and youth activities and found religious effects for each of these three measures. The study indicates that religion is related to paternal involvement in all three areas that were examined.…

Chloroplast and mitochondrial DNA are paternally inherited in Sequoia sempervirens D. Don Endl

PubMed Central

Neale, David B.; Marshall, Kimberly A.; Sederoff, Ronald R.

1989-01-01

Restriction fragment length polymorphisms in controlled crosses were used to infer the mode of inheritance of chloroplast DNA and mitochondrial DNA in coast redwood (Sequoia sempervirens D. Don Endl.). Chloroplast DNA was paternally inherited, as is true for all other conifers studied thus far. Surprisingly, a restriction fragment length polymorphism detected by a mitochondrial probe was paternally inherited as well. This polymorphism could not be detected in hybridizations with chloroplast probes covering the entire chloroplast genome, thus providing evidence that the mitochondrial probe had not hybridized to chloroplast DNA on the blot. We conclude that mitochondrial DNA is paternally inherited in coast redwood. To our knowledge, paternal inheritance of mitochondrial DNA in sexual crosses of a multicellular eukaryotic organism has not been previously reported. Images PMID:16594091

Primate paternal care: interactions between biology and social experience

PubMed Central

Storey, Anne E.; Ziegler, Toni E.

2016-01-01

We review recent research on the roles of hormones and social experiences on the development of paternal care in humans and non-human primates. Generally, lower concentrations of testosterone and higher concentrations of oxytocin are associated with greater paternal responsiveness. Hormonal changes prior to the birth appear to be important in preparation for fatherhood and changes after the birth are related to how much time fathers spend with offspring and whether they provide effective care. Prolactin may facilitate approach and the initiation of infant care, and in some biparental non-human primates, it affects body mass regulation. Glucocorticoids are involved in coordinating reproductive and parental behavior between mates. New research involving intranasal oxytocin and neuropeptide receptor polymorphisms may help us understand individual variation in paternal responsiveness. This area of research, integrating both biological factors and the role of early and adult experience, has the potential to suggest individually designed interventions that can strengthen relationships between fathers and their offspring. PMID:26253726

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

PubMed

Drury, Suzanne; Mason, Sarah; McKay, Fiona; Lo, Kitty; Boustred, Christopher; Jenkins, Lucy; Chitty, Lyn S

2016-01-01

Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches. Validation and diagnostic implementation for NIPD of congenital adrenal hyperplasia (CAH) is further complicated by presence of a pseudogene that requires a different approach. We have used an assay targeting approximately 6700 heterozygous SNPs around the CAH gene (CYP21A2) to construct the high-risk parental haplotypes and tested this approach in five cases, showing that inheritance of the parental alleles can be correctly identified using NIPD. We are evaluating various measures of the fetal fraction to help determine inheritance of parental mutations. We are currently exploring the utility of an NIPD multi-disorder panel for autosomal recessive disease, to make testing more widely applicable to families with a variety of serious genetic conditions.

High Correlated Paternity Leads to Negative Effects on Progeny Performance in Two Mediterranean Shrub Species.

PubMed

Nora, Sofia; Aparicio, Abelardo; Albaladejo, Rafael G

2016-01-01

Anthropogenic habitat deterioration can promote changes in plant mating systems that subsequently may affect progeny performance, thereby conditioning plant recruitment for the next generation. However, very few studies yet tested mating system parameters other than outcrossing rates; and the direct effects of the genetic diversity of the pollen received by maternal plants (i.e. correlated paternity) has often been overlooked. In this study, we investigated the relation between correlated paternity and progeny performance in two common Mediterranean shrubs, Myrtus communis and Pistacia lentiscus. To do so, we collected open-pollinated progeny from selected maternal plants, calculated mating system parameters using microsatellite genotyping and conducted sowing experiments under greenhouse and field conditions. Our results showed that some progeny fitness components were negatively affected by the high correlated paternity of maternal plants. In Myrtus communis, high correlated paternity had a negative effect on the proportion and timing of seedling emergence in the natural field conditions and in the greenhouse sowing experiment, respectively. In Pistacia lentiscus, seedling emergence time under field conditions was also negatively influenced by high correlated paternity and a progeny survival analysis in the field experiment showed greater mortality of seedlings from maternal plants with high correlated paternity. Overall, we found effects of correlated paternity on the progeny performance of Myrtus communis, a self-compatible species. Further, we also detected effects of correlated paternity on the progeny emergence time and survival in Pistacia lentiscus, an obligate outcrossed species. This study represents one of the few existing empirical examples which highlight the influence that correlated paternity may exert on progeny performance in multiple stages during early seedling growth.

High Correlated Paternity Leads to Negative Effects on Progeny Performance in Two Mediterranean Shrub Species

PubMed Central

Nora, Sofia; Aparicio, Abelardo; Albaladejo, Rafael G.

2016-01-01

Anthropogenic habitat deterioration can promote changes in plant mating systems that subsequently may affect progeny performance, thereby conditioning plant recruitment for the next generation. However, very few studies yet tested mating system parameters other than outcrossing rates; and the direct effects of the genetic diversity of the pollen received by maternal plants (i.e. correlated paternity) has often been overlooked. In this study, we investigated the relation between correlated paternity and progeny performance in two common Mediterranean shrubs, Myrtus communis and Pistacia lentiscus. To do so, we collected open-pollinated progeny from selected maternal plants, calculated mating system parameters using microsatellite genotyping and conducted sowing experiments under greenhouse and field conditions. Our results showed that some progeny fitness components were negatively affected by the high correlated paternity of maternal plants. In Myrtus communis, high correlated paternity had a negative effect on the proportion and timing of seedling emergence in the natural field conditions and in the greenhouse sowing experiment, respectively. In Pistacia lentiscus, seedling emergence time under field conditions was also negatively influenced by high correlated paternity and a progeny survival analysis in the field experiment showed greater mortality of seedlings from maternal plants with high correlated paternity. Overall, we found effects of correlated paternity on the progeny performance of Myrtus communis, a self-compatible species. Further, we also detected effects of correlated paternity on the progeny emergence time and survival in Pistacia lentiscus, an obligate outcrossed species. This study represents one of the few existing empirical examples which highlight the influence that correlated paternity may exert on progeny performance in multiple stages during early seedling growth. PMID:27835658

Beyond Boys’ Bad Behavior: Paternal Incarceration and Cognitive Development in Middle Childhood

PubMed Central

Haskins, Anna R.

2017-01-01

A growing number of American school-aged children have incarcerated or formally incarcerated parents necessitating a more comprehensive understanding of the intergenerational effects of mass imprisonment. Using the Fragile Families Study, I assess whether having an incarcerated father impacts children’s cognitive skill development into middle childhood. While previous studies have primarily found effects for boys’ behavior problems, matching models and sensitivity analyses demonstrate that experiencing paternal incarceration by age 9 is associated with lower cognitive skills for both boys and girls and these negative effects hold net of a pre-paternal incarceration measure of child cognitive ability. Moreover, I estimate that paternal incarceration explains between 2 and 15 percent of the Black-White achievement gap at age 9. These findings represent new outcomes of importance and suggest that paternal incarceration may play an even larger role in the production of intergenerational inequalities for American children than previously documented. PMID:28579646

Beyond Boys' Bad Behavior: Paternal Incarceration and Cognitive Development in Middle Childhood.

PubMed

Haskins, Anna R

2016-12-07

A growing number of American school-aged children have incarcerated or formally incarcerated parents necessitating a more comprehensive understanding of the intergenerational effects of mass imprisonment. Using the Fragile Families Study, I assess whether having an incarcerated father impacts children's cognitive skill development into middle childhood. While previous studies have primarily found effects for boys' behavior problems, matching models and sensitivity analyses demonstrate that experiencing paternal incarceration by age 9 is associated with lower cognitive skills for both boys and girls and these negative effects hold net of a pre-paternal incarceration measure of child cognitive ability. Moreover, I estimate that paternal incarceration explains between 2 and 15 percent of the Black-White achievement gap at age 9. These findings represent new outcomes of importance and suggest that paternal incarceration may play an even larger role in the production of intergenerational inequalities for American children than previously documented.

Paternal Hostility and Maternal Hostility in European American and African American Families.

PubMed

Wu, Ed Y; Reeb, Ben T; Martin, Monica J; Gibbons, Frederick X; Simons, Ronald L; Conger, Rand D

2014-06-01

The authors examined the hypothesized influence of maternal and paternal hostility on youth delinquency over time. The investigation addressed significant gaps in earlier research on parental hostility, including the neglect of father effects, especially in African American families. Using prospective, longitudinal data from community samples of European American (n = 422) and African American (n = 272) 2-parent families, the authors examined the independent effects of paternal and maternal hostility on youth delinquency. The results indicated that paternal hostility significantly predicted relative increases in youth delinquent behaviors above and beyond the effects of maternal hostility; conversely, maternal hostility did not predict youth delinquency after controlling for paternal hostility. Multiple-group analyses yielded similar results for both ethnic groups and for boys and girls. These results underscore the importance of including both parents in research on diverse families. Neglecting fathers provides an incomplete account of parenting in relation to youth development.

Advances in understanding paternally transmitted Chromosomal Abnormalities

DOE Office of Scientific and Technical Information (OSTI.GOV)

Marchetti, F; Sloter, E; Wyrobek, A J

2001-03-01

Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate themore » types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.« less

Paternal depression in the postnatal period and child development: mediators and moderators.

PubMed

Gutierrez-Galve, Leticia; Stein, Alan; Hanington, Lucy; Heron, Jon; Ramchandani, Paul

2015-02-01

To explore potential mediating and moderating factors that influence the association between paternal depression in the postnatal period and subsequent child behavioral and emotional problems. A population-based cohort (N = 13,822) from the Avon Longitudinal Study of Parents and Children (ALSPAC) was recruited during pregnancy. Paternal and maternal depressive symptoms were assessed with the Edinburgh Postnatal Depression Scale at 8 weeks after the birth of the child. Child outcomes were assessed at 3.5 years by using the Rutter revised preschool scales and at 7 years by using the Strengths and Difficulties Questionnaire. Path analysis was used to assess hypothesized mediators (ie, depression in the other parent, couple conflict, and paternal noninvolvement) of the associations between both paternal and maternal depression and child outcomes. We also tested for hypothesized moderators (ie, paternal education and antisocial traits). Family factors (maternal depression and couple conflict) mediated two-thirds of the overall association between paternal depression and child outcomes at 3.5 years. Similar findings were seen when children were 7 years old. In contrast, family factors mediated less than one-quarter of the association between maternal depression and child outcomes. There was no evidence of moderating effects of either parental education or antisocial traits. The majority of the association between depression in fathers postnatally and subsequent child behavior is explained by the mediating role of family environment, whereas the association between depression in mothers and child outcomes appears to be better explained by other factors, perhaps including direct mother-infant interaction. Copyright © 2015 by the American Academy of Pediatrics.

Cues of Paternal Uncertainty and Father to Child Physical Abuse as Reported by Mothers in Rio de Janeiro, Brazil

ERIC Educational Resources Information Center

Alexandre, Gisele Caldas; Nadanovsky, Paulo; Wilson, Margo; Daly, Martin; Moraes, Claudia Leite; Reichenheim, Michael

2011-01-01

Objective: Paternity is uncertain, so if paternal feelings evolved to promote fitness, we might expect them to vary in response to variables indicative of paternity probability. We therefore hypothesized that the risk of lapses of paternal affection, including abusive assaults on children, will be exacerbated by cues of non-paternity. Methods:…

Parental Divorce, Maternal-Paternal Alcohol Problems, and Adult Offspring Lifetime Alcohol Dependence.

PubMed

Thompson, Ronald G; Alonzo, Dana; Hasin, Deborah S

2013-01-01

This study examined the influences of parental divorce and maternal-paternal histories of alcohol problems on adult offspring lifetime alcohol dependence using data from the 2001-2002 National Epidemiological Survey on Alcohol and Related Conditions (NESARC). Parental divorce and maternal-paternal alcohol problems interacted to differentially influence the likelihood of offspring lifetime alcohol dependence. Experiencing parental divorce and either maternal or paternal alcohol problems doubled the likelihood of alcohol dependence. Divorce and history of alcohol problems for both parents tripled the likelihood. Offspring of parental divorce may be more vulnerable to developing alcohol dependence, particularly when one or both parents have alcohol problems.

Is There an Association between Advanced Paternal Age and Endophenotype Deficit Levels in Schizophrenia?

PubMed Central

Tsuang, Debby; Esterberg, Michelle; Braff, David; Calkins, Monica; Cadenhead, Kristin; Dobie, Dorcas; Freedman, Robert; Green, Michael F.; Greenwood, Tiffany; Gur, Raquel; Gur, Ruben; Horan, William; Lazzeroni, Laura C.; Light, Gregory A.; Millard, Steven P.; Olincy, Ann; Nuechterlein, Keith; Seidman, Larry; Siever, Larry; Silverman, Jeremy; Stone, William; Sprock, Joyce; Sugar, Catherine; Swerdlow, Neal; Tsuang, Ming; Turetsky, Bruce; Radant, Allen

2014-01-01

The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS). All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293) or were unaffected first-degree siblings of those probands (n = 382). Paternal age at the time of subjects’ birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age–endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia. PMID:24523888

Is there an association between advanced paternal age and endophenotype deficit levels in schizophrenia?

PubMed

Tsuang, Debby; Esterberg, Michelle; Braff, David; Calkins, Monica; Cadenhead, Kristin; Dobie, Dorcas; Freedman, Robert; Green, Michael F; Greenwood, Tiffany; Gur, Raquel; Gur, Ruben; Horan, William; Lazzeroni, Laura C; Light, Gregory A; Millard, Steven P; Olincy, Ann; Nuechterlein, Keith; Seidman, Larry; Siever, Larry; Silverman, Jeremy; Stone, William; Sprock, Joyce; Sugar, Catherine; Swerdlow, Neal; Tsuang, Ming; Turetsky, Bruce; Radant, Allen

2014-01-01

The children of older fathers have increased risks of developing schizophrenia spectrum disorders, and among those who develop these disorders, those with older fathers present with more severe clinical symptoms. However, the influence of advanced paternal age on other important domains related to schizophrenia, such as quantitative endophenotype deficit levels, remains unknown. This study investigated the associations between paternal age and level of endophenotypic impairment in a well-characterized family-based sample from the Consortium on the Genetics of Schizophrenia (COGS). All families included at least one affected subject and one unaffected sibling. Subjects met criteria for schizophrenia (probands; n = 293) or were unaffected first-degree siblings of those probands (n = 382). Paternal age at the time of subjects' birth was documented. Subjects completed a comprehensive clinical assessment and a battery of tests that measured 16 endophenotypes. After controlling for covariates, potential paternal age-endophenotype associations were analyzed using one model that included probands alone and a second model that included both probands and unaffected siblings. Endophenotype deficits in the Identical Pairs version of the 4-digit Continuous Performance Test and in the Penn Computerized Neurocognitive Battery verbal memory test showed significant associations with paternal age. However, after correcting for multiple comparisons, no endophenotype was significantly associated with paternal age. These findings suggest that factors other than advanced paternal age at birth may account for endophenotypic deficit levels in schizophrenia.

Testosterone and paternal care in East African foragers and pastoralists

PubMed Central

Muller, Martin N.; Marlowe, Frank W.; Bugumba, Revocatus; Ellison, Peter T.

2008-01-01

The ‘challenge hypothesis’ posits that testosterone facilitates reproductive effort (investment in male–male competition and mate-seeking) at the expense of parenting effort (investment in offspring and mates). Multiple studies, primarily in North America, have shown that men in committed relationships, fathers, or both maintain lower levels of testosterone than unpaired men. Data from non-western populations, however, show inconsistent results. We hypothesized that much of this cross-cultural variation can be attributed to differential investment in mating versus parenting effort, even among married fathers. Here, we directly test this idea by comparing two neighbouring Tanzanian groups that exhibit divergent styles of paternal involvement: Hadza foragers and Datoga pastoralists. We predicted that high levels of paternal care by Hadza fathers would be associated with decreased testosterone in comparison with non-fathers, and that no such difference between fathers and non-fathers would be evident in Datoga men, who provide minimal direct paternal care. Twenty-seven Hadza men and 80 Datoga men between the ages of 17 and 60 provided morning and afternoon saliva samples from which testosterone was assayed. Measurements in both populations confirmed these predictions, adding further support to the hypothesis that paternal care is associated with decreased testosterone production in men. PMID:18826936

Extensive paternal mtDNA leakage in natural populations of Drosophila melanogaster.

PubMed

Nunes, Maria D S; Dolezal, Marlies; Schlötterer, Christian

2013-04-01

Strict maternal inheritance is considered a hallmark of animal mtDNA. Although recent reports suggest that paternal leakage occurs in a broad range of species, it is still considered an exceptionally rare event. To evaluate the impact of paternal leakage on the evolution of mtDNA, it is essential to reliably estimate the frequency of paternal leakage in natural populations. Using allele-specific real-time quantitative PCR (RT-qPCR), we show that heteroplasmy is common in natural populations with at least 14% of the individuals carrying multiple mitochondrial haplotypes. However, the average frequency of the minor mtDNA haplotype is low (0.8%), which suggests that this pervasive heteroplasmy has not been noticed before due to a lack of power in sequencing surveys. Based on the distribution of mtDNA haplotypes in the offspring of heteroplasmic mothers, we found no evidence for strong selection against one of the haplotypes. We estimated that the rate of paternal leakage is 6% and that at least 100 generations are required for complete sorting of mtDNA haplotypes. Despite the high proportion of heteroplasmic individuals in natural populations, we found no evidence for recombination between mtDNA molecules, suggesting that either recombination is rare or recombinant haplotypes are counter-selected. Our results indicate that evolutionary studies using mtDNA as a marker might be biased by paternal leakage in this species. © 2013 Blackwell Publishing Ltd.

Different implications of paternal and maternal atopy for perinatal IgE production and asthma development.

PubMed

Wu, Chih-Chiang; Chen, Rong-Fu; Kuo, Ho-Chang

2012-01-01

Asthma is a hereditary disease associated with IgE-mediated reaction. Whether maternal atopy and paternal atopy have different impacts on perinatal IgE production and asthma development remains unclear. This paper reviews and summarizes the effects of maternal and paternal atopy on the developmental aspects of IgE production and asthma. Maternal atopy affects both pre- and postnatal IgE production, whereas paternal atopy mainly affects the latter. Maternally transmitted genes GSTP1 and FceRI-beta are associated with lung function and allergic sensitization, respectively. In IgE production and asthma development, the maternal influence on gene-environment interaction is greater than paternal influence. Maternal, paternal, and/or postnatal environmental modulation of allergic responses have been linked to epigenetic mechanisms, which may be good targets for early prevention of asthma.

Different Implications of Paternal and Maternal Atopy for Perinatal IgE Production and Asthma Development

PubMed Central

Wu, Chih-Chiang; Chen, Rong-Fu; Kuo, Ho-Chang

2012-01-01

Asthma is a hereditary disease associated with IgE-mediated reaction. Whether maternal atopy and paternal atopy have different impacts on perinatal IgE production and asthma development remains unclear. This paper reviews and summarizes the effects of maternal and paternal atopy on the developmental aspects of IgE production and asthma. Maternal atopy affects both pre- and postnatal IgE production, whereas paternal atopy mainly affects the latter. Maternally transmitted genes GSTP1 and FceRI-beta are associated with lung function and allergic sensitization, respectively. In IgE production and asthma development, the maternal influence on gene-environment interaction is greater than paternal influence. Maternal, paternal, and/or postnatal environmental modulation of allergic responses have been linked to epigenetic mechanisms, which may be good targets for early prevention of asthma. PMID:22272211

Sperm as moderators of environmentally induced paternal effects in a livebearing fish.

PubMed

Evans, Jonathan P; Lymbery, Rowan A; Wiid, Kyle S; Rahman, Md Moshiur; Gasparini, Clelia

2017-04-01

Until recently, paternal effects-the influence of fathers on their offspring due to environmental factors rather than genes-were largely discarded or assumed to be confined to species exhibiting paternal care. It is now recognized that paternal effects can be transmitted through the ejaculate, but unambiguous evidence for them is scarce, because it is difficult to isolate effects operating via changes to the ejaculate from maternal effects driven by female mate assessment. Here, we use artificial insemination to disentangle mate assessment from fertilization in guppies, and show that paternal effects can be transmitted to offspring exclusively via ejaculates. We show that males fed reduced diets produce poor-quality sperm and that offspring sired by such males (via artificial insemination) exhibit reduced body size at birth. These findings may have important implications for the many mating systems in which environmentally induced changes in ejaculate quality have been reported. © 2017 The Author(s).

An increase in estradiol facilitates the onset of paternal behavior in the dwarf hamster (Phodopus campbelli).

PubMed

Romero-Morales, Luis; Martínez-Torres, Martín; Cárdenas, Mario; Álvarez, Carmen; Carmona, Agustín; Cedillo, Benita; Loya-Zurita, Eduardo; Luis, Juana

2018-03-01

In the dwarf hamster (Phodopus campbelli), activational effects of testosterone (T) and estradiol (E 2 ) in the regulation of paternal behavior have been repeatedly rejected because peripheral concentrations of E 2 do not change across the reproductive cycle of males. Further, castration no affected paternal behavior despite that both T and E 2 concentrations decreased significantly. However, the role of these hormones has not been evaluated in models of castration and hormonal replacement in virgin males. Here, we analysed the effects of E 2 and T in paternal behavior in virgin male dwarf hamster (Phodopus campbelli). Thirty paternal (PAT) males were bilaterally castrated; of them, 10 were implanted with T, 10 with E 2 and 10 males received no treatment. Other 10 PAT males underwent sham-castration. Seventeen aggressive (AGG) males were also bilaterally castrated; of these, 10 AGG received E 2 replacement, 7 were not treated. Other 7 AGG males were submitted to sham-castration. Following treatments, paternal behavior tests were conducted again. T and E 2 levels in plasma were quantified by radioimmunoassay (RIA). The results showed that the treatments did not affect the paternal behavior of males that were initially paternal. Neither castration nor sham-castration surgery affected the behavior of AGG males. However, when these males were treated with E 2 and the concentrations of this hormone increase significantly they became paternal. Our data suggest that an increase in E 2 levels shifted infanticidal behavior to paternal behavior in dwarf hamster. Copyright © 2018 Elsevier Inc. All rights reserved.

Chinese Preschool Children’s Socioemotional Development: The Effects of Maternal and Paternal Psychological Control

PubMed Central

Xing, Shufen; Gao, Xin; Song, Xinxin; Archer, Marc; Zhao, Demao; Zhang, Mengting; Ding, Bilei; Liu, Xia

2017-01-01

The present study examined the relative prediction and joint effects of maternal and paternal psychological control on children’s socioemotional development. A total of 325 preschool children between the ages of 34 and 57 months (M = 4 years 2 months) and their parents participated in the study. Fathers and mothers, respectively, reported their levels of psychological control and mothers evaluated the socioemotional development of children using two indicators (i.e., behavioral problems and prosocial behaviors). The results indicated that the relative predictive effects of maternal and paternal psychological control on children’s socioemotional development differed. Specifically, maternal psychological control was a significant predictor of children’s behavioral problems and prosocial behaviors, whereas the levels of paternal psychological control were unrelated to children’s socioemotional development. With regard to the combined effects of maternal and paternal psychological control, the results of ANOVAs and simple slope analysis both indicated that children would be at risk of behavioral problems as long as they had one highly psychologically controlling parent. High levels of paternal psychological control were associated with increased behavioral problems of children only when maternal psychological control was low. However, the association between maternal psychological control and children’s behavioral behaviors was significant, despite paternal psychological control. PMID:29093691

Maternal or paternal suicide and offspring's psychiatric and suicide-attempt hospitalization risk.

PubMed

Kuramoto, S Janet; Stuart, Elizabeth A; Runeson, Bo; Lichtenstein, Paul; Långström, Niklas; Wilcox, Holly C

2010-11-01

We examined whether the risk for psychiatric morbidity requiring inpatient care was higher for offspring who experienced parental suicide, compared with offspring of fatal accident decedents, and whether the association varied according to the deceased parent's gender. Children and adolescents (0-17 years of age) who experienced maternal (N = 5600) or paternal (N = 17,847) suicide in 1973-2003 in Sweden were identified by using national, longitudinal, population-based registries. Cox regression modeling was used to compare psychiatric hospitalization risks among offspring of suicide decedents and propensity score-matched offspring of accident decedents. Offspring of maternal suicide decedents had increased risk of suicide-attempt hospitalization, after controlling for psychiatric hospitalization for decedents and surviving parents, compared with offspring of maternal accidental decedents. Offspring of paternal suicide decedents had similar risk of suicide-attempt hospitalization, compared with offspring of accident decedents, but had increased risk of hospitalization attributable to depressive and anxiety disorders. The magnitude of risks for offspring suicide-attempt hospitalization was greater for those who experienced maternal versus paternal suicide, compared with their respective control offspring (interaction P = .05; offspring of maternal decedents, adjusted hazard ratio: 1.80 [95% confidence interval: 1.19-2.74]; offspring of paternal decedents, adjusted hazard ratio: 1.14 [95% confidence interval: 0.96-1.35]). Maternal suicide is associated with increased risk of suicide-attempt hospitalization for offspring, beyond the risk associated with maternal accidental death. However, paternal suicide is not associated with suicide-attempt hospitalization. Future studies should examine factors that might differ between offspring who experience maternal versus paternal suicide, including genetic or early environmental determinants.

Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors.

PubMed

Mills, Melissa B; Hudgins, Louanne; Balise, Raymond R; Abramson, David H; Kleinerman, Ruth A

2012-07-01

Autosomal dominant conditions are known to be associated with advanced paternal age, and it has been suggested that retinoblastoma (Rb) also exhibits a paternal age effect due to the paternal origin of most new germline RB1 mutations. To further our understanding of the association of parental age and risk of de novo germline RB1 mutations, we evaluated the effect of parental age in a cohort of Rb survivors in the United States. A cohort of 262 Rb patients was retrospectively identified at one institution, and telephone interviews were conducted with parents of 160 survivors (65.3%). We classified Rb survivors into three groups: those with unilateral Rb were classified as sporadic if they had no or unknown family history of Rb, those with bilateral Rb were classified as having a de novo germline mutation if they had no or unknown family history of Rb, and those with unilateral or bilateral Rb, who had a family history of Rb, were classified as familial. We built two sets of nested logistic regression models to detect an increased odds of the de novo germline mutation classification related to older parental age compared to sporadic and familial Rb classifications. The modeling strategy evaluated effects of continuous increasing maternal and paternal age and 5-year age increases adjusted for the age of the other parent. Mean maternal ages for survivors classified as having de novo germline mutations and sporadic Rb were similar (28.3 and 28.5, respectively) as were mean paternal ages (31.9 and 31.2, respectively), and all were significantly higher than the weighted general US population means. In contrast, maternal and paternal ages for familial Rb did not differ significantly from the weighted US general population means. Although we noted no significant differences between mean maternal and paternal ages between each of the three Rb classification groups, we found increased odds of a survivor being in the de novo germline mutation group for each 5-year increase in

Parents' Relative Socioeconomic Status and Paternal Involvement in Chinese Families: The Mediating Role of Coparenting.

PubMed

Liu, Chang; Wu, Xinchun; Zou, Shengqi

2016-01-01

This study examined the mediating role of coparenting in the association between differences/similarities in paternal and maternal socioeconomic status (SES) and paternal involvement in Chinese families. The sample included 244 couples with children aged 3-7 years. Fathers and mothers reported their individual incomes, educational levels, occupations, and coparenting behavior (measured using the Coparenting Scale), and fathers completed the Father Involvement Questionnaire. Structural equation modeling was performed to examine the associations between SES and paternal involvement. Results suggested that SES indicator measures were outcome specific. Occupational differences/similarities were associated with paternal involvement indirectly, via fathers' family integrity practices. Income and educational differences/similarities did not affect paternal involvement. The results suggested that the traditional Chinese view that "men are chiefly responsible for activity in society, while women are responsible for the home" has faded.

Living on the wedge: female control of paternity in a cooperatively polyandrous cichlid

PubMed Central

Kohda, Masanori; Heg, Dik; Makino, Yoshimi; Takeyama, Tomohiro; Shibata, Jun-ya; Watanabe, Katsutoshi; Munehara, Hiroyuki; Hori, Michio; Awata, Satoshi

2009-01-01

Theories suggest that, in cooperatively breeding species, female control over paternity and reproductive output may affect male reproductive skew and group stability. Female paternity control may come about through cryptic female choice or female reproductive behaviour, but experimental studies are scarce. Here, we show a new form of female paternity control in a cooperatively polyandrous cichlid fish (Julidochromis transcriptus), in which females prefer wedge-shaped nesting sites. Wedge-shaped sites allowed females to manipulate the siring success of the group member males by spawning the clutch at the spot where the large males were just able to enter and fertilize the outer part of the clutch. Small males fertilized the inner part of the clutch, protected from the large aggressive males, leading to low male reproductive skew. Small males provided more brood care than large males. Multiple paternity induced both males to provide brood care and reduced female brood care accordingly. This is, to our knowledge, the first documented case in a species with external fertilization showing female mating behaviour leading to multiple male paternity and increased male brood care as a result. PMID:19726479

Parental Divorce, Maternal-Paternal Alcohol Problems, and Adult Offspring Lifetime Alcohol Dependence

PubMed Central

THOMPSON, RONALD G.; ALONZO, DANA; HASIN, DEBORAH S.

2014-01-01

This study examined the influences of parental divorce and maternal-paternal histories of alcohol problems on adult offspring lifetime alcohol dependence using data from the 2001–2002 National Epidemiological Survey on Alcohol and Related Conditions (NESARC). Parental divorce and maternal-paternal alcohol problems interacted to differentially influence the likelihood of offspring lifetime alcohol dependence. Experiencing parental divorce and either maternal or paternal alcohol problems doubled the likelihood of alcohol dependence. Divorce and history of alcohol problems for both parents tripled the likelihood. Offspring of parental divorce may be more vulnerable to developing alcohol dependence, particularly when one or both parents have alcohol problems. PMID:24678271

32 CFR 584.3 - Paternity claims.

Code of Federal Regulations, 2010 CFR

2010-07-01

... process paternity claims against male Army soldiers. These procedures apply to claims made in the... claims against them. Commanders will ensure that soldiers are advised of their legal rights and will... questioning, advise the soldier of his right to remain silent under article, 31, UCMJ, and his right to...

An Investigation of Executive Function Abilities in Adults with Praderwilli Syndrome

ERIC Educational Resources Information Center

Walley, R. M.; Donaldson, M. D. C.

2005-01-01

Background: PraderWilli syndrome (PWS) is a genetic disorder caused by the absence of expression of maternally imprinted genes on the long arm of chromosome 15 (15q 11-13). There are two main genetic sub-types: (1) deletion, caused by the absence of paternally derived genetic material; and (2) uniparental disomy (UPD), where two copies of…

Paternal involvement and early infant neurodevelopment: the mediation role of maternal parenting stress.

PubMed

Kim, Minjeong; Kang, Su-Kyoung; Yee, Bangsil; Shim, So-Yeon; Chung, Mira

2016-12-12

Father-child interactions are associated with improved developmental outcomes among infants. However, to the best of our knowledge, no study has addressed the effects of paternal involvement on the neurodevelopment of infants who are less than 6 months of age, and no study has reported how maternal parenting stress mediates the relationship between paternal involvement and infant neurodevelopment during early infancy. This study investigates the direct and indirect relationship between paternal involvement and infant neurodevelopment at 3-4 months of age. The indirect relationship was assessed through the mediating factor of maternal parenting stress. The participants were recruited through the Sesalmaul Research Center's website from April to June 2014. The final data included 255 mothers and their healthy infants, who were aged 3-4 months. The mothers reported paternal involvement and maternal parenting stress by using Korean Parenting Alliance Inventory (K-PAI) and Parenting Stress Index (PSI), respectively. Experts visited the participants' homes to observe infant neurodevelopment, and completed a developmental examination using Korean version of the Ages and Stages Questionnaire II (K-ASQ II). A hierarchical multiple regression analysis was used for data analysis. Infants' mean ages were 106 days and girls accounted for 46.3%. The mean total scores (reference range) of the K-PAI, PSI, and the K-ASQ II were 55.5 (17-68), 45.8 (25-100), and 243.2 (0-300), respectively. Paternal involvement had a positive relationship with K-ASQ II scores (β = 0.29, p < 0.001) at 3-4 months of age, whereas maternal parenting stress was negatively related with K-ASQ II scores (β = -0.32, p < 0.001). Maternal parenting stress mediated the relationship between paternal involvement and early infant neurodevelopment (Z = 3.24, p < 0.001). A hierarchical multiple regression analysis showed that paternal involvement reduced maternal parenting stress (�

Paternal behavior and testosterone plasma levels in the Volcano Mouse Neotomodon alstoni (Rodentia: Muridae).

PubMed

Luis, Juana; Ramírez, Lorena; Carmona, Agustín; Ortiz, Guadalupe; Delgado, Jesús; Cárdenas, René

2009-01-01

Paternal behavior and testosterone plasma levels in the Volcano Mouse Neotomodon alstoni (Rodentia: Muridae). Although initially it was thought that testosterone inhibited the display of paternal behavior in males of rodents, it has been shown that in some species high testosterone levels are needed for exhibition of paternal care. In captivity, males of Volcano Mouse (Neotomodon alstoni) provide pups the same care provided by the mother, with the exception of suckling. Here we measured plasmatic testosterone concentrations 10 days after mating, five and 20 days postpartum, and 10 days after males were isolated from their families in order to determine possible changes in this hormone, associated to the presence and age of pups. Males of Volcano Mouse exhibited paternal behavior when their testosterone levels were relatively high. Although levels of this hormone did not change with the presence or pups age, males that invested more time in huddling showed higher testosterone levels. It is possible that in the Volcano Mouse testosterone modulates paternal behavior indirectly, as in the California mouse.

Paternal alcoholism, negative parenting, and the mediating role of marital satisfaction

PubMed Central

Kachadourian, Lorig K.; Eiden, Rina D.; Leonard, Kenneth E.

2013-01-01

Given the documented association between paternal alcoholism and negative parenting behaviors, the purpose of this study was to examine longitudinally whether marital satisfaction mediates this relationship. Participants consisted of 197 families (102 without an alcoholic father, 95 with an alcoholic father) who were assessed at three time points: when children were 12, 24, and 36 months old. Results indicated that paternal alcoholism at 12 months was associated with decreased marital satisfaction at 24 months for both mothers and fathers. Marital satisfaction at 24 months in turn was associated with decreases in parental warmth and sensitivity at 36 months. Furthermore, marital satisfaction mediated the association between paternal alcoholism and parental warmth and sensitivity for both mothers and fathers. The implications of these findings for interventions for alcoholic families are discussed. PMID:19541430

Multiple Paternity in Polyandrous Barn Owls (Tyto alba)

PubMed Central

Dubey, Sylvain; Simon, Céline; Waldvogel, Céline; Burri, Reto; Roulin, Alexandre

2013-01-01

In polyandrous species females produce successive clutches with several males. Female barn owls (Tyto alba) often desert their offspring and mate to produce a 2nd annual brood with a second male. We tested whether copulating during chick rearing at the 1st annual brood increases the male's likelihood to obtain paternity at the 2nd annual breeding attempt of his female mate in case she deserts their brood to produce a second brood with a different male. Using molecular paternity analyses we found that 2 out of 26 (8%) second annual broods of deserting females contained in total 6 extra-pair young out of 15 nestlings. These young were all sired by the male with whom the female had produced the 1st annual brood. In contrast, none of the 49 1st annual breeding attempts (219 offspring) and of the 20 2nd annual breeding attempts (93 offspring) of non-deserting females contained extra-pair young. We suggest that female desertion can select male counter-strategies to increase paternity and hence individual fitness. Alternatively, females may copulate with the 1st male to derive genetic benefits, since he is usually of higher quality than the 2nd male which is commonly a yearling individual. PMID:24244622

Multiple paternity in polyandrous barn owls (Tyto alba).

PubMed

Henry, Isabelle; Antoniazza, Sylvain; Dubey, Sylvain; Simon, Céline; Waldvogel, Céline; Burri, Reto; Roulin, Alexandre

2013-01-01

In polyandrous species females produce successive clutches with several males. Female barn owls (Tyto alba) often desert their offspring and mate to produce a 2(nd) annual brood with a second male. We tested whether copulating during chick rearing at the 1(st) annual brood increases the male's likelihood to obtain paternity at the 2(nd) annual breeding attempt of his female mate in case she deserts their brood to produce a second brood with a different male. Using molecular paternity analyses we found that 2 out of 26 (8%) second annual broods of deserting females contained in total 6 extra-pair young out of 15 nestlings. These young were all sired by the male with whom the female had produced the 1(st) annual brood. In contrast, none of the 49 1(st) annual breeding attempts (219 offspring) and of the 20 2(nd) annual breeding attempts (93 offspring) of non-deserting females contained extra-pair young. We suggest that female desertion can select male counter-strategies to increase paternity and hence individual fitness. Alternatively, females may copulate with the 1(st) male to derive genetic benefits, since he is usually of higher quality than the 2(nd) male which is commonly a yearling individual.

Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Tomkins, D.J.; Waye, J.S.; Whelan, D.T.

An 11-year-old boy was referred for chromosomal analysis because of precocious development and behavioral problems suggestive of the fragile X syndrome. The cytogenetic fragile X studies were normal, but a routine GTG-banded karyotype revealed an abnormal male karyotype with a Robertsonian translocation between the two chromosome 14`s: 46,XY,t(14q14q). Paternal karyotyping revealed another abnormal karyotype: 46,XY,t(13q14q). A brother had the same karyotype as the father; the mother was deceased. In order to determine if the apparently balanced t(14q14q) in the proband might be the cause of the clinical findings, molecular analysis of the origin of the chromosome 14`s was initiated. Southernmore » blotting and hybridization with D4S13 showed that the proband had two copies of one maternal allele which was shared by his brother. The brother`s second allele corresponded to one of the paternal alleles; the proband had no alleles from the father. Analysis of four other VNTRs demonstrated the probability of paternity to be greater than 99%. Thus, the t(14q14q) was most likely composed of two maternal chromosome 14`s. Further characterization of the t(14q14q) by dinucleotide repeat polymorphic markers is in progress to determine whether it has arisen from maternal isodisomy or heterodisomy. Several cases of uniparental disomy for chromosome 14 have been reported recently. Paternal disomy appears to be associated with more severe congenital anomalies and mental retardation, whereas maternal disomy may be associated with premature puberty and minimal intellectual impairment. The origin of the t(14q14q) in the present case may be related to the paternal translocation, as the segregation of the t(13q14q) in meiosis could lead to sperm that are nullisomic for chromosome 14.« less

Brain alcohol detectability in human subjects with and without a paternal history of alcoholism.

PubMed

Chiu, Tak-Ming; Mendelson, Jack H; Sholar, Michelle B; Mutschler, Nicole H; Wines, James D; Hesselbrock, Victor M; Mello, Nancy K

2004-01-01

This study examined the putative effects of a paternal history of alcoholism on the apparent detectability of brain alcohol in human subjects. Brain to blood ethanol ratios in two cohorts of men were determined, using proton magnetic resonance spectroscopic imaging in a brain voxel (2 x 2 x 2 cm) containing the putamen. The men were light drinkers with a positive (n = 8) or a negative (n = 8) paternal history of alcoholism and were given an alcohol dose of 0.8 g/kg body weight. In both groups, brain alcohol detectability was less than 100%. No significant difference (p = .37) was found in the brain/blood ethanol ratios of the two groups. However, subjective assessments of feeling the extreme effects of alcohol and the extent of intoxication ("how drunk") were highly correlated with a paternal history of alcoholism, with the paternal history negative group reporting significantly more intense feelings of intoxication. A review of existing literature evidence and data obtained in this study indicate that brain alcohol detectability via magnetic resonance spectroscopic imaging is less than 100%. There were no significant differences in brain alcohol detectability between paternal history positive and paternal history negative men. Differences in the Subjective High Assessment Scale ratings between the two groups, however, indicate the importance of a genetic influence on the subjective response to alcohol.

Mate guarding in the Seychelles warbler is energetically costly and adjusted to paternity risk.

PubMed

Komdeur, J

2001-10-22

Males may increase their fitness through extra-pair copulations (copulations outside the pair bond) that result in extra-pair fertilizations, but also risk lost paternity when they leave their own mate unguarded. The fitness costs of cuckoldry for Seychelles warblers (Acrocephalus sechellensis) are considerable because warblers have a single-egg clutch and, given the short breeding season, no time for a successful replacement clutch. Neighbouring males are the primary threat to a male's genetic paternity. Males minimize their loss of paternity by guarding their mates to prevent them from having extra-pair copulations during their fertile period. Here, I provide experimental evidence that mate-guarding behaviour is energetically costly and that the expression of this trade-off is adjusted to paternity risk (local male density). Free-living males that were induced to reduce mate guarding spent significantly more time foraging and gained significantly better body condition than control males. The larger the reduction in mate guarding, the more pronounced was the increase in foraging and body condition (accounting for food availability). An experimental increase in paternity risk resulted in an increase in mate-guarding intensity and a decrease in foraging and body condition, and vice versa. This is examined using both cross-sectional and longitudinal data. This study on the Seychelles warbler offers experimental evidence that mate guarding is energetically costly and adjusted to paternity risk.

Paternal and maternal influences on problem behaviors among homeless and runaway youth.

PubMed

Stein, Judith A; Milburn, Norweeta G; Zane, Jazmin I; Rotheram-Borus, Mary Jane

2009-01-01

Using an Attachment Theory conceptual framework, associations were investigated among positive paternal and maternal relationships, and recent problem behaviors among 501 currently homeless and runaway adolescents (253 males, 248 females). Homeless and runaway youth commonly exhibit problem behaviors such as substance use, various forms of delinquency and risky sex behaviors, and report more emotional distress than typical adolescents. Furthermore, attachments to their families are often strained. In structural equation models, positive paternal relationships significantly predicted less substance use and less criminal behavior, whereas maternal relationships did not have a significant effect on or association with either behavior. Positive maternal relationships predicted less survival sex behavior. Separate gender analyses indicated that among the females, a longer time away from home was significantly associated with a poorer paternal relationship, and more substance use and criminal behavior. Paternal relations, a neglected area of research and often not addressed in attachment theory, should be investigated further. Attachments, particularly to fathers, were protective against many deleterious behaviors. Building on relatively positive relations and attachments may foster family reunifications and beneficial outcomes for at-risk youth.

Meta-analysis of paternal age and schizophrenia risk in male versus female offspring.

PubMed

Miller, Brian; Messias, Erick; Miettunen, Jouko; Alaräisänen, Antti; Järvelin, Marjo-Riita; Koponen, Hannu; Räsänen, Pirkko; Isohanni, Matti; Kirkpatrick, Brian

2011-09-01

Advanced paternal age (APA) is a reported risk factor for schizophrenia in the offspring. We performed a meta-analysis of this association, considering the effect of gender and study design. We identified articles by searching Pub Med, PsychInfo, ISI, and EMBASE, and the reference lists of identified studies. Previously unpublished data from the Northern Finland 1966 Birth Cohort (NFBC 1966) study were also included. There were 6 cohort studies and 6 case-control studies that met the inclusion criteria. In both study designs, there was a significant increase in risk of schizophrenia in the offspring of older fathers (≥30) compared to a reference paternal age of 25-29, with no gender differences. The relative risk (RR) in the oldest fathers (≥50) was 1.66 [95% confidence interval (95% CI): 1.46-1.89, P < 0.01]. A significant increase in risk was also found for younger fathers (<25) in males (RR = 1.08, 95% CI: 1.02-1.14, P = 0.01) but not females (RR = 1.04, 95% CI: 0.97-1.14, P = 0.28). The population attributable risk percentage (PAR%) was 10% for paternal age ≥30 and 5% for paternal age <25. Both APA (≥30) and younger paternal age (<25) increase the risk of schizophrenia; younger paternal age may be associated with an increased risk in males but not females. This risk factor increases the risk of schizophrenia as much as any single candidate gene of risk. The mechanism of these associations is not known and may differ for older and younger fathers.

The fate of paternal mitochondria in marmoset pre-implantation embryos.

PubMed

Luetjens, C M; Wesselmann, R

2008-06-01

Sperm-derived mitochondria are integrated into the oocyte at fertilization but seem to vanish during the early cleavage phase. The developmental potential of pre-implantation embryos seems to be closely related to their ability to induce degeneration of these mitochondria, but the mechanisms underlying their loss of function are not yet understood. This study focuses on the fate of paternal mitochondria in pre-implantation embryos. Stimulation, collection and in vitro culture of oocytes from Callithrix jacchus, allows the study of the destiny of paternal mitochondria by utilizing immunostaining of pre-implantation embryos, fluorescence and laserscanning microscopy. Live pre-implantation embryos were stained with a fluorescence indicator reflecting mitochondrial membrane potential. Evidence indicating the loss of mitochondrial function was not found nor that apoptosis pathways were involved in the disappearance of paternally derived mitochondria. These findings may have implications for mitochondrially inherited diseases and could lead to new strategies for improving assisted reproduction.

Social Responsiveness and Competence in Prader-Willi Syndrome: Direct Comparison to Autism Spectrum Disorder

ERIC Educational Resources Information Center

Dimitropoulos, Anastasia; Ho, Alan; Feldman, Benjamin

2013-01-01

Prader-Willi syndrome (PWS), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. Although maladaptive behavior and the cognitive profile in PWS have been well characterized, social functioning has…

[Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].

PubMed

Zhang, Jing-jing; Bao, Xin-hua; Cao, Guang-na; Jiang, Sheng-ling; Zhu, Xing-wang; Lu, Hong-mei; Jia, Li-fang; Pan, Hong; Wu, Xi-ru

2010-04-01

To identify the parental origin of methyl-CpG-binding protein 2 (MECP2) gene mutations in Chinese patients with Rett syndrome. Single nucleotide polymorphisms (SNPs) in intron 3 of the MECP2 gene were analyzed by PCR and sequencing in 115 patients with Rett syndrome. Then sequencing of the SNP region was performed for the fathers of the patients who had at least one SNP, to determine which allele was from the father. Then allele-specific PCR was performed and the products were sequenced to see whether the allele from father or mother harbored the mutation. Seventy-six of the 115 patients had at least one SNP. Three hot SNPs were found in these patients. They were: IVS3+22C >G, IVS3+266C >T and IVS3+683C>T. Among the 76 cases, 73 had a paternal origin of MECP2 mutations, and the other 3 had a maternal origin. There were multiple types of MECP2 mutation of the paternal origin, including 4 frame shift, 2 deletion and 67 point (56C >T, 6C >G, 2A >G, 2G >T and 1A >T) mutations. The mutation types of the 3 patients with maternal origin included 2 frame shift and 1 point (C >T) mutation. In Chinese RTT patients, the MECP2 mutations are mostly of paternal origin.

Paternity Testing in a PBL Environment

ERIC Educational Resources Information Center

Casla, Alberto Vicario; Zubiaga, Isabel Smith

2010-01-01

Problem Based Learning (PBL) makes use of real-life scenarios to stimulate students' prior knowledge and to provide a meaningful context that is also related to the student's future professional work. In this article, Paternity testing is presented using a PBL approach that involves a combination of classroom, laboratory, and out-of-class…

Disrupting Dominant Discourses about Paternal Participation.

ERIC Educational Resources Information Center

Brownson, Chris

It is clear that the impact of paternal participation on children is overwhelmingly positive. Despite the benefits, men still lag behind women as equal and responsible contributors in childcare although their participation is increasing. This paper focuses on why men are not more involved in childcare and recognizes the ways in which…

Multiple paternity and sporophytic inbreeding depression in a dioicous moss species.

PubMed

Szövényi, P; Ricca, M; Shaw, A J

2009-11-01

Multiple paternity (polyandry) frequently occurs in flowering plants and animals and is assumed to have an important function in the evolution of reproductive traits. Polyandry in bryophytes may occur among multiple sporophytes of a female gametophyte; however, its occurrence and extent is unknown. In this study we investigate the occurrence and extent of multiple paternity, spatial genetic structure, and sporophytic inbreeding depression in natural populations of a dioicous bryophyte species, Sphagnum lescurii, using microsatellite markers. Multiple paternity is prevalent among sporophytes of a female gametophyte and male genotypes exhibit significant skew in paternity. Despite significant spatial genetic structure in the population, suggesting frequent inbreeding, the number of inbred and outbred sporophytes was balanced, resulting in an average fixation coefficient and population level selfing rate of zero. In line with the prediction of sporophytic inbreeding depression sporophyte size was significantly correlated with the level of heterozygosity. Furthermore, female gametophytes preferentially supported sporophytes with higher heterozygosity. These results indicate that polyandry provides the opportunity for postfertilization selection in bryophytes having short fertilization distances and spatially structured populations facilitating inbreeding. Preferential maternal support of the more heterozygous sporophytes suggests active inbreeding avoidance that may have significant implications for mating system evolution in bryophytes.

A paternal environmental legacy: evidence for epigenetic inheritance through the male germ line.

PubMed

Soubry, Adelheid; Hoyo, Cathrine; Jirtle, Randy L; Murphy, Susan K

2014-04-01

Literature on maternal exposures and the risk of epigenetic changes or diseases in the offspring is growing. Paternal contributions are often not considered. However, some animal and epidemiologic studies on various contaminants, nutrition, and lifestyle-related conditions suggest a paternal influence on the offspring's future health. The phenotypic outcomes may have been attributed to DNA damage or mutations, but increasing evidence shows that the inheritance of environmentally induced functional changes of the genome, and related disorders, are (also) driven by epigenetic components. In this essay we suggest the existence of epigenetic windows of susceptibility to environmental insults during sperm development. Changes in DNA methylation, histone modification, and non-coding RNAs are viable mechanistic candidates for a non-genetic transfer of paternal environmental information, from maturing germ cell to zygote. Inclusion of paternal factors in future research will ultimately improve the understanding of transgenerational epigenetic plasticity and health-related effects in future generations. © 2014 The Authors. Bioessays published by WILEY Periodicals, Inc.

Adolescent obesity and maternal and paternal sensitivity and monitoring.

PubMed

Neal Davis, R; Ashba, Jacqueline; Appugliese, Danielle P; Kaciroti, Niko; Corwyn, Robert F; Bradley, Robert H; Lumeng, Julie C

2011-06-01

To determine if adolescent obesity is associated with parenting characterized by lower sensitivity and lower monitoring of adolescent activities. We used data from 744 adolescents in the National Institute of Child Health and Human Development Study of Early Child Care and Youth Development. Height and weight were measured at age 15½ years and obesity defined as body mass index ≥ 95th percentile for age and sex. Maternal and paternal sensitivity were assessed by direct observation of a parent-adolescent interaction task. Maternal and paternal monitoring were assessed by parent report. Lower sensitivity and lower monitoring were each defined as the lowest quartiles. Two separate multivariate logistic regression models were created to evaluate, individually for mothers and fathers, associations of sensitivity and monitoring with adolescent obesity, controlling for adolescent sex and race, family income-to-needs ratio, and parental obesity. Fourteen percent of the adolescents were obese. Lower sensitivity was associated with adolescent obesity in the maternal parenting model (adjusted odds ratio [AOR] 2.36, 95% confidence interval [CI] 1.44-3.86, n = 709), but not paternal parenting model (AOR = 0.79, 95% CI 0.38-1.63, n = 460). Neither maternal nor paternal monitoring was associated with adolescent obesity (AOR = 1.03, 95% CI 0.63-1.68; AOR = 1.07, 95% CI 0.52-2.22, respectively). Lower maternal sensitivity, measured by direct observation of parent-adolescent interactions, was associated with adolescent obesity. Efforts to prevent and treat childhood obesity, both at the practitioner level and the community level, may be enhanced by educating parents that their reactions to their children's behaviors may have consequences related to obesity.

Advancing Paternal Age and Simplex Autism

ERIC Educational Resources Information Center

Puleo, Connor Morrow; Schmeidler, James; Reichenberg, Abraham; Kolevzon, Alexander; Soorya, Latha V.; Buxbaum, Joseph D.; Silverman, Jeremy M.

2012-01-01

De novo events appear more common in female and simplex autism spectrum disorder (ASD) cases and may underlie greater ASD risk in older fathers' offspring. This study examined whether advancing paternal age predicts an increase in simplex (n = 90) versus multiplex ASD cases (n = 587) in 677 participants (340 families). Whether or not controlling…

Daddy issues: paternal effects on phenotype

PubMed Central

Rando, Oliver J.

2012-01-01

The once-popular, then heretical, idea that ancestral environment can affect the phenotype of future generations is coming back into vogue, due to advances in the field of epigenetic inheritance. How paternal environmental conditions influence the phenotype of progeny is now a tractable question, and researchers are exploring potential mechanisms underlying such effects. PMID:23141533

Paternal effects on offspring fitness in a multimale primate society

PubMed Central

Charpentier, M. J. E.; Van Horn, R. C.; Altmann, J.; Alberts, S. C.

2008-01-01

When females mate with multiple males, paternal care is generally expected to be negligible, because it may be difficult or impossible for males to discriminate their own offspring from those of other males, and because engaging in paternal care may reduce male mating opportunities. Consequently, males in multimale societies are not predicted to provide direct benefits to their offspring. We have recently demonstrated, however, that males in a typical multimale primate society (yellow baboons, Papio cynocephalus) discriminate their own offspring from those of other males and provide care to them in the form of repeated support during agonistic encounters. This observation raises the question of whether fathers enhance offspring fitness in this species. Here we use 30 years of data on age at maturity for 118 yellow baboons with known fathers. We show that the father's presence in the offspring's social group during the offspring's immature period accelerated the timing of physiological maturation in daughters. Sons also experienced accelerated maturation if their father was present during their immature period, but only if the father was high ranking at the time of their birth. Because age at reproductive maturity has a large impact on lifetime reproductive success, our results indicate a direct effect of paternal presence on offspring fitness. This relationship in turn suggests that the multiple roles that males play in multimale animal societies have not been sufficiently examined or appreciated and that paternal effects may be more pervasive than previously appreciated. PMID:18250308

Healthcare costs of paternal depression in the postnatal period.

PubMed

Edoka, Ijeoma P; Petrou, Stavros; Ramchandani, Paul G

2011-09-01

There is growing evidence that fathers experience depressive symptoms following the birth of a child. The aim of this study was to estimate the healthcare costs of paternal postnatal depression, thereby informing research into cost-effective preventative and treatment interventions for the condition. Data on healthcare resource-use over the first 12 months postpartum was collected from 192 fathers recruited from two postnatal wards in southern England. Three groups of fathers were identified: fathers with depression (n=31), fathers at high risk of developing depression (n=67) and fathers without depression (n=94). Mean father-child dyad costs were estimated at £ 1103.51, £ 1075.06 and £ 945.03 (£ sterling, 2008 prices) in these three groups, respectively (P=0.796). After controlling for potentially confounding factors, paternal depression was associated with significantly higher community care costs. This study provides useful preliminary insights into the healthcare costs associated with paternal depression during the postnatal period. The small sample size may, in part, account for the failure to detect statistically significant differences in mean costs between study groups for most cost categories. Copyright © 2011 Elsevier B.V. All rights reserved.

Healthcare costs of paternal depression in the postnatal period

PubMed Central

Edoka, Ijeoma P.; Petrou, Stavros; Ramchandani, Paul G.

2011-01-01

Background There is growing evidence that fathers experience depressive symptoms following the birth of a child. The aim of this study was to estimate the healthcare costs of paternal postnatal depression, thereby informing research into cost-effective preventative and treatment interventions for the condition. Methods Data on healthcare resource-use over the first 12 months postpartum was collected from 192 fathers recruited from two postnatal wards in southern England. Three groups of fathers were identified: fathers with depression (n = 31), fathers at high risk of developing depression (n = 67) and fathers without depression (n = 94). Results Mean father–child dyad costs were estimated at £1103.51, £1075.06 and £945.03 (£ sterling, 2008 prices) in these three groups, respectively (P = 0.796). After controlling for potentially confounding factors, paternal depression was associated with significantly higher community care costs. Conclusion This study provides useful preliminary insights into the healthcare costs associated with paternal depression during the postnatal period. Limitation The small sample size may, in part, account for the failure to detect statistically significant differences in mean costs between study groups for most cost categories. PMID:21561664

Case-control study of paternal occupation and childhood leukaemia in Great Britain, 1962-2006.

PubMed

Keegan, T J; Bunch, K J; Vincent, T J; King, J C; O'Neill, K A; Kendall, G M; MacCarthy, A; Fear, N T; Murphy, M F G

2012-10-23

Paternal occupational exposures have been proposed as a risk factor for childhood leukaemia. This study investigates possible associations between paternal occupational exposure and childhood leukaemia in Great Britain. The National Registry of Childhood Tumours provided all cases of childhood leukaemia born and diagnosed in Great Britain between 1962 and 2006. Controls were matched on sex, period of birth and birth registration subdistrict. Fathers' occupations were assigned to 1 or more of 33 exposure groups. Social class was derived from father's occupation at the time of the child's birth. A total of 16 764 cases of childhood leukaemia were ascertained. One exposure group, paternal social contact, was associated with total childhood leukaemia (odds ratio 1.14, 1.05-1.23); this association remained significant when adjusted for social class. The subtypes lymphoid leukaemia (LL) and acute myeloid leukaemia showed increased risk with paternal exposure to social contact before adjustment for social class. Risk of other leukaemias was significantly increased by exposure to electromagnetic fields, persisting after adjustment for social class. For total leukaemia, the risks for exposure to lead and exhaust fumes were significantly <1. Occupationally derived social class was associated with risk of LL, with the risk being increased in the higher social classes. Our results showed some support for a positive association between childhood leukaemia risk and paternal occupation involving social contact. Additionally, LL risk increased with higher paternal occupational social class.

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

PubMed

Sahoo, Trilochan; del Gaudio, Daniela; German, Jennifer R; Shinawi, Marwan; Peters, Sarika U; Person, Richard E; Garnica, Adolfo; Cheung, Sau Wai; Beaudet, Arthur L

2008-06-01

Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.

The colour of paternity: extra-pair paternity in the wild Gouldian finch does not appear to be driven by genetic incompatibility between morphs.

PubMed

Bolton, P E; Rollins, L A; Brazill-Boast, J; Kim, K-W; Burke, T; Griffith, S C

2017-01-01

In socially monogamous species, individuals can use extra-pair paternity and offspring sex allocation as adaptive strategies to ameliorate costs of genetic incompatibility with their partner. Previous studies on domesticated Gouldian finches (Erythrura gouldiae) demonstrated a genetic incompatibility between head colour morphs, the effects of which are more severe in female offspring. Domesticated females use differential sex allocation, and extra-pair paternity with males of compatible head colour, to reduce fitness costs associated with incompatibility in mixed-morph pairings. However, laboratory studies are an oversimplification of the complex ecological factors experienced in the wild and may only reflect the biology of a domesticated species. This study aimed to examine the patterns of parentage and sex ratio bias with respect to colour pairing combinations in a wild population of the Gouldian finch. We utilized a novel PCR assay that allowed us to genotype the morph of offspring before the morph phenotype develops and to explore bias in morph paternity and selection at the nest. Contrary to previous findings in the laboratory, we found no effect of pairing combinations on patterns of extra-pair paternity, offspring sex ratio or selection on morphs in nestlings. In the wild, the effect of morph incompatibility is likely much smaller, or absent, than was observed in the domesticated birds. Furthermore, the previously studied domesticated population is genetically differentiated from the wild population, consistent with the effects of domestication. It is possible that the domestication process fostered the emergence (or enhancement) of incompatibility between colour morphs previously demonstrated in the laboratory. © 2016 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2016 European Society For Evolutionary Biology.

Paternal involvement in the management of pediatric chronic diseases: associations with adherence, quality of life, and health status.

PubMed

Wysocki, Tim; Gavin, Leslie

2006-06-01

This article reports associations among paternal involvement in pediatric chronic disease management and child outcomes. The Dads' Active Disease Support scale (DADS) and measures of treatment adherence, quality of life, health status, and health care utilization were obtained for youths with six chronic diseases, with complete data sets obtained from 190 couples. Paternal involvement was not associated with these outcomes among younger children. Among adolescents, mother-reported and father-reported DADS scores indicating more paternal involvement were associated with maintenance, rather than deterioration, of treatment adherence and more favorable quality of life. Youths' health status and health care utilization were not related significantly to paternal involvement. More paternal involvement was associated with more favorable adherence and quality of life among adolescents but not associated with health status or health care utilization. Longitudinal studies could verify whether paternal involvement merits clinical intervention.

Testosterone positively associated with both male mating effort and paternal behavior in savanna baboons (Papio cynocephalus)

PubMed Central

Onyango, Patrick Ogola; Gesquiere, Laurence R.; Altmann, Jeanne; Alberts, Susan C.

2012-01-01

Testosterone (T) is often positively associated with male sexual behavior and negatively associated with paternal care. These associations have primarily been demonstrated in species where investment in paternal care begins well after mating activity is complete, when offspring are hatched or born. Different patterns may emerge in studies of species where investment in mating and paternal care overlap temporally, for instance in non-seasonal breeders in which males mate with multiple females sequentially and may simultaneously have multiple offspring of different ages. In a 9-year data set on levels of T in male baboons, fecal concentrations of T (fT) were positively associated with both mate guarding (“consortship”) – a measure of current reproductive activity – and with the number of immature offspring a male had in his social group – a measure of past reproductive activity and an indicator of likely paternal behavior. To further examine the relationship between T and potential paternal behavior, we next drew on an intensive 8-month study of male behavior, and found that fathers were more likely to be in close proximity to their offspring than expected by chance. Because male baboons are known to provide paternal care, and because time in proximity to offspring would facilitate such care, this suggests that T concentrations in wild male baboons may be associated with both current reproductive activity and with current paternal behavior. These results are consistent with the predicted positive association between T a mating effort but not nd with a negative association between T a paternal care; in male baboons, high levels of nd T occur in males that are differentially associating with their offspring. PMID:23206991

To nudge or not to nudge: cancer screening programmes and the limits of libertarian paternalism.

PubMed

Ploug, Thomas; Holm, Søren; Brodersen, John

2012-12-01

'Nudging--and the underlying idea 'libertarian paternalism'--to an increasing degree influences policy thinking in the healthcare sector. This article discusses the influence exerted upon a woman's choice of participation in the Danish breast screening programme in light of 'libertarian paternalism'. The basic tenet of 'libertarian paternalism' is outlined and the relationship between 'libertarian paternalism' and informed consent investigated. Key elements in the process of enrolling women into the Danish mammography screening programme are introduced. It is shown that for several reasons the influence exerted upon women's choices of participation cannot be justified within a welfare-enhancing libertarian paternalistic framework. The article suggests that screening programmes alternatively adopt a liberty-enhancing approach and considers the practical implications of this alternative.

The Effect of Paternal Age on Offspring Intelligence and Personality when Controlling for Parental Trait Levels

PubMed Central

Arslan, Ruben C.; Penke, Lars; Johnson, Wendy; Iacono, William G.; McGue, Matt

2014-01-01

Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father’s age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents’ trait levels measured with the same precision as offspring’s. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ) had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents’ intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (<1% of variance explained) on intelligence. We discuss future avenues for studies of paternal age effects and suggest that stronger research designs are needed to rule out confounding factors involving birth order and the Flynn effect. PMID:24587224

Paternal Age: How Does It Affect a Baby?

MedlinePlus

... and an increased frequency of autism spectrum disorder. Schizophrenia. Studies suggest an older paternal age might increase the risk of the severe mental disorder schizophrenia and might be associated with earlier onset of ...

Advanced paternal age increases the risk of schizophrenia and obsessive-compulsive disorder in a Chinese Han population.

PubMed

Wu, Yuejing; Liu, Xiang; Luo, Hongrong; Deng, Wei; Zhao, Gaofeng; Wang, Qiang; Zhang, Lan; Ma, Xiaohong; Liu, Xiehe; Murray, Robin A; Collier, David A; Li, Tao

2012-08-15

Using the Structured Clinical Interview for DSM-IV, patient and non-patient version (SCID-P/NP), this study investigated 351 patients with schizophrenia, 122 with obsessive-compulsive disorder (OCD), and 238 unrelated healthy volunteers in a Chinese Han population. The relative risks posed by advanced paternal age for schizophrenia and OCD in offspring were computed under logistic regression analyses and adjusted for the participant's sex, age and co-parent age at birth. Compared to the offspring with paternal age of 25-29 years old, the relative risks rose from 2.660 to 10.183 in the paternal age range of 30-34 and ≥35. The relative risks for OCD increased from 2.225 to 5.413 in 30-34 and ≥35. For offspring with paternal age of <25, the odds ratios of developing schizophrenia and OCD were 0.628 and 0.289 respectively, whereas an association between increased maternal age and risk for schizophrenia/OCD was not seen. Interaction analysis showed an interaction effect between paternal age and maternal age at birth. Such a tendency of risk affected by parental age for schizophrenia and OCD existed after splitting out the data of early onset patients. Sex-specific analyses found that the relative risks for schizophrenia with paternal age of 30-34 and ≥35 in male offspring were 2.407 and 10.893, and in female offspring were 3.080 and 9.659. The relative risks for OCD with paternal age of 30-34 and ≥35 in male offspring were 3.493 and 7.373, and in female offspring 2.005 and 4.404. The mean paternal age of schizophrenia/OCD patients born before the early 1980s was much greater than that of patients who were born after then. The findings illustrated that advanced paternal age is associated with increased risk for both schizophrenia and OCD in a Chinese Han population, prominently when paternal age is over 35. Biological and non-biological mechanisms may both be involved in the effects of advanced paternal age on schizophrenia and OCD. Copyright © 2012. Published

Postnatal paternal depressive symptoms associated with fathers' subsequent parenting: findings from the Millennium Cohort Study.

PubMed

Nath, Selina; Russell, Ginny; Ford, Tamsin; Kuyken, Willem; Psychogiou, Lamprini

2015-12-01

Impaired parenting may lie on the causal pathway between paternal depression and children's outcomes. We use the first four surveys of the Millennium Cohort Study to investigate the association between paternal depressive symptoms and fathers' parenting (negative, positive and involvement). Findings suggest that postnatal paternal depressive symptoms are associated with fathers' negative parenting. This has implications for the design of intervention programmes for parents with depression and young children. © The Royal College of Psychiatrists 2015.

Paternal Multiple Partner Fertility and Environmental Chaos Among Unmarried Nonresident Fathers

PubMed Central

Petren, Raymond E.

2017-01-01

This study examined the association between paternal multiple partner fertility (MPF; having children with two or more partners) and indicators of environmental chaos (partnership instability, residential instability, work stability, material hardship, and perceived social support) among unmarried, non-resident fathers. Survey data from the Fragile Families and Child Wellbeing Study (N = 873) were used to compare unmarried non-resident fathers who experienced MPF to those who had children with one partner. Results show that paternal MPF is associated with most indicators of environmental chaos (greater partnership instability, residential instability, work instability, material hardship), but not social support. Results suggest that fathers who experience MPF face challenges beyond those of other non-resident fathers. Policies and interventions should address aspects of instability and hardship that are unique to paternal MPF in order to encourage fathers’ positive contributions to children and families. Directions for future research are discussed. PMID:29755155

Paternal Caregivers' Parenting Practices and Psychological Functioning among African American Youth Living in Urban Public Housing.

PubMed

Doyle, Otima; Clark Goings, Trenette; Cryer-Coupet, Qiana R; Lombe, Margaret; Stephens, Jennifer; Nebbitt, Von E

2017-09-01

Structural factors associated with public housing contribute to living environments that expose families to adverse life events that may in turn directly impact parenting and youth outcomes. However, despite the growth in research on fathers, research on families in public housing has practically excluded fathers and the role fathers play in the well-being of their adolescents. Using a sample of 660 African American adolescents recruited from public housing, we examined the relationship between paternal caregivers' (i.e., fathers' and father figures') parenting practices and adolescents' depressive symptoms, attitudes toward deviance, and self-efficacy. Using a latent profile analysis (LPA), we confirmed a four-class model of paternal parenting practices ranging from high to low levels of monitoring and encouragement. Results from a one-way ANOVA indicated that paternal caregivers with high (compared to moderate) levels of encouragement and monitoring were associated with youth who reported less depressive symptoms, higher levels of self-efficacy, and less favorable attitudes toward deviance. Discriminant analysis results indicated that approximately half of the sample were correctly classified into two paternal caregiver classes. The findings provide evidence that some of these caregivers engage in parenting practices that support youths' psychological functioning. More research is needed to determine what accounts for the variability in levels of paternal encouragement and supervision, including environmental influences, particularly for paternal caregivers exhibiting moderate-to-low levels of paternal encouragement and monitoring. © 2016 Family Process Institute.

Paternal alcoholism and offspring ADHD problems: a children of twins design.

PubMed

Knopik, Valerie S; Jacob, Theodore; Haber, Jon Randolph; Swenson, Lance P; Howell, Donelle N

2009-02-01

A recent Children-of-Female-Twin design suggests that the association between maternal alcohol use disorder and offspring ADHD is due to a combination of genetic and environmental factors, such as prenatal nicotine exposure. We present here a complementary analysis using a Children-of-Male-Twin design examining the association between paternal alcoholism and offspring attention deficit hyperactivity problems (ADHP). Children-of-twins design: offspring were classified into 4 groups of varying genetic and environmental risk based on father and co-twin's alcohol dependence status. Univariate results are suggestive of a genetic association between paternal alcohol dependence and broadly defined offspring ADHP. Specifically, offspring of male twins with a history of DSM-III-R alcohol dependence, as well as offspring of non-alcohol dependent monozygotic twins whose co-twin was alcohol dependent, were significantly more likely to exhibit ADHP than control offspring. However, multivariate models show maternal variables independently predicting increased risk for offspring ADHP and significantly decreased support for a genetic mechanism of parent-to-child transmission. In support of earlier work, maternal variables (i.e., maternal ADHD and prenatal exposure) were strongly associated with child ADHP; however, the role of paternal alcohol dependence influences was not definitive. While genetic transmission may be important, the association between paternal alcohol dependence and child ADHP is more likely to be indirect and a result of several pathways.

45 CFR 303.5 - Establishment of paternity.

Code of Federal Regulations, 2012 CFR

2012-10-01

... case is any action in which the issue of paternity may be raised under State law and one party denies... Action Programs; (E) Secondary education schools (particularly those that have parenthood education..., welfare or social services organization. (2) The hospitals, State birth record agencies, and other...

45 CFR 303.5 - Establishment of paternity.

Code of Federal Regulations, 2010 CFR

2010-10-01

... case is any action in which the issue of paternity may be raised under State law and one party denies... Action Programs; (E) Secondary education schools (particularly those that have parenthood education..., welfare or social services organization. (2) The hospitals, State birth record agencies, and other...

45 CFR 303.5 - Establishment of paternity.

Code of Federal Regulations, 2011 CFR

2011-10-01

... case is any action in which the issue of paternity may be raised under State law and one party denies... Action Programs; (E) Secondary education schools (particularly those that have parenthood education..., welfare or social services organization. (2) The hospitals, State birth record agencies, and other...

45 CFR 303.5 - Establishment of paternity.

Code of Federal Regulations, 2013 CFR

2013-10-01

... case is any action in which the issue of paternity may be raised under State law and one party denies... Action Programs; (E) Secondary education schools (particularly those that have parenthood education..., welfare or social services organization. (2) The hospitals, State birth record agencies, and other...

45 CFR 303.5 - Establishment of paternity.

Code of Federal Regulations, 2014 CFR

2014-10-01

... case is any action in which the issue of paternity may be raised under State law and one party denies... Action Programs; (E) Secondary education schools (particularly those that have parenthood education..., welfare or social services organization. (2) The hospitals, State birth record agencies, and other...

Information and consent in internet paternity testing: focus on minors' protection in Italy.

PubMed

Caenazzo, Luciana; Tozzo, Pamela; Benciolini, Paolo; Rodriguez, Daniele

2008-12-01

Paternity testing in Italy is usually performed by private laboratories and universities having direct contacts with the applicants. Recently, the number of paternity tests offered through laboratory websites has increased in Italy and Europe. The execution of genetic tests, including paternity testing based on DNA analysis, represents a complex act, which contains three main steps. Paternity analyses carried out by laboratories via Internet are performed on samples collected by the applicants and then mailed back to the laboratories without any patient-physician relationship. Information is given to the subjects through the laboratory's website or mailed with the test order form. The execution of "household" DNA analysis without technical precautions may provide an incorrect response with severe consequences on the individual who has undergone testing, on the family involved, and on society in general. The problems connected with this kind of analysis are not technical, but ethical and deontological. In this work, we will discuss the problems related to information and consent by way of outlining the relevant Italian laws and codes of medical ethics. The Italian Privacy's Guarantor is assessing the ethical and legal implications, but regulations are not yet in place. We believe that adequate information related to this practice cannot be given via Internet, and, consequently, the validity of the consent expressed during this kind of procedure can be uncertain. Further, we will analyze issues regarding the importance of minors' protection when a paternity test is performed via Internet. In our opinion, the complexity of the situations and expectations linked to paternity investigations require a special sensitivity in dealing with each case, based on a patient-physician relationship in the decision-making process especially referring to the defense of the minors' well-being.

Paternal smoking and increased risk of infant and under-5 child mortality in Indonesia.

PubMed

Semba, Richard D; de Pee, Saskia; Sun, Kai; Best, Cora M; Sari, Mayang; Bloem, Martin W

2008-10-01

We examined the relationship between paternal smoking and child mortality. Among 361,021 rural and urban families in Indonesia, paternal smoking was associated with increased infant mortality (rural, odds ratio [OR] = 1.30; 95% confidence interval [CI] = 1.24, 1.35; urban, OR = 1.10; 95% CI = 1.01, 1.20), and under-5 child mortality (rural, OR = 1.32; 95% CI = 1.26, 1.37; urban, OR = 1.14; 95% CI = 1.05, 1.23). Paternal smoking diverts money from basic necessities to cigarettes and adversely affects child health; tobacco control should therefore be considered among strategies to improve child survival.

Expressive and Receptive Language in Prader-Willi Syndrome: Report on Genetic Subtype Differences

ERIC Educational Resources Information Center

Dimitropoulos, Anastasia; Ferranti, Angela; Lemler, Maria

2013-01-01

Prader-Willi syndrome (PWS), most recognized for the hallmark hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the q11-13 region of chromosome 15. Since the recognition of PWS as a genetic disorder, most research has focused primarily on the medical, genetic, and behavioral aspects of…

Paternal Risk Factors for Oral Clefts in Northern Africans, Southeast Asians, and Central Americans

PubMed Central

Ly, Stephanie; Burg, Madeleine L.; Ihenacho, Ugonna; Brindopke, Frederick; Auslander, Allyn; Magee, Kathleen S.; Sanchez-Lara, Pedro A.; Nguyen, Thi-Hai-Duc; Nguyen, Viet; Tangco, Maria Irene; Hernandez, Angela Rose; Giron, Melissa; Mahmoudi, Fouzia J.; DeClerck, Yves A.; Magee, William P.; Figueiredo, Jane C.

2017-01-01

While several studies have investigated maternal exposures as risk factors for oral clefts, few have examined paternal factors. We conducted an international multi-centered case–control study to better understand paternal risk exposures for oral clefts (cases = 392 and controls = 234). Participants were recruited from local hospitals and oral cleft repair surgical missions in Vietnam, the Philippines, Honduras, and Morocco. Questionnaires were administered to fathers and mothers separately to elicit risk factor and family history data. Associations between paternal exposures and risk of clefts were assessed using logistic regression adjusting for potential confounders. A father’s personal/family history of clefts was associated with significantly increased risk (adjusted OR: 4.77; 95% CI: 2.41–9.45). No other significant associations were identified for other suspected risk factors, including education (none/primary school v. university adjusted OR: 1.29; 95% CI: 0.74–2.24), advanced paternal age (5-year adjusted OR: 0.98; 95% CI: 0.84–1.16), or pre-pregnancy tobacco use (adjusted OR: 0.96; 95% CI: 0.67–1.37). Although sample size was limited, significantly decreased risks were observed for fathers with selected occupations. Further research is needed to investigate paternal environmental exposures as cleft risk factors. PMID:28629204

Paternal cigarette smoking and the risk of childhood cancer among offspring of nonsmoking mothers.

PubMed

Ji, B T; Shu, X O; Linet, M S; Zheng, W; Wacholder, S; Gao, Y T; Ying, D M; Jin, F

1997-02-05

Cigarette smoking has been shown to increase oxidative DNA damage in human sperm cells. Assessment of the role of cigarette smoking in the etiology of childhood cancer has focused primarily on the effect of maternal smoking. Similar studies in relation to paternal smoking, however, have been inconclusive. Few studies have evaluated the effect of paternal smoking in the preconception period, and most of these could not disentangle the effects of paternal from maternal smoking. We investigated the relationship of paternal smoking, particularly in the preconception period, with childhood cancer among offspring of the nonsmoking mothers. We conducted a population-based, case-control study in Shanghai, People's Republic of China, where the prevalence of smoking is high among men but extremely low among women. The study included 642 childhood cancer case patients (<15 years of age) and their individually matched control subjects. Information concerning parental smoking, alcohol drinking, and other exposures of the index child was obtained by direct interview of both parents of the study subjects. Odds ratios (ORs), derived from conditional logistic regression models, were used to measure the association between paternal smoking and risk of childhood cancers. Paternal preconception smoking was related to a significantly elevated risk of childhood cancers, particularly acute leukemia and lymphoma. The risks rose with increasing pack-years of paternal preconception smoking for acute lymphocytic leukemia (ALL) (P for trend = .01), lymphoma (P for trend = .07), and total cancer (P for trend = .006). Compared with children whose fathers had never smoked cigarettes, children whose fathers smoked more than five pack-years prior to their conception had adjusted ORs of 3.8 (95% confidence interval [CI] = 1.3-12.3) for ALL, 4.5 (95% CI = 1.2-16.8) for lymphoma, 2.7 (95% CI = 0.8-9.9) for brain tumors, and 1.7 (95% CI = 1.2-2.5) for all cancers combined. Statistically significant

Daddy issues: paternal effects on phenotype.

PubMed

Rando, Oliver J

2012-11-09

The once popular and then heretical idea that ancestral environment can affect the phenotype of future generations is coming back into vogue due to advances in the field of epigenetic inheritance. How paternal environmental conditions influence the phenotype of progeny is now a tractable question, and researchers are exploring potential mechanisms underlying such effects. Copyright © 2012 Elsevier Inc. All rights reserved.

IN SEARCH OF A FATHER: LEGAL CHALLENGES SURROUNDING POSTHUMOUS PATERNITY TESTING.

PubMed

Stirton, Ruth H; Wilkinson, Mark J

2015-01-01

This article interrogates the workings of the Human Tissue Act 2004, as it applies to paternity testing by DNA analysis after the death of the putative father. We use a case series methodology more usually seen in medical research, through which we present three real case studies involving posthumous paternity testing of retained tissue. We argue that the criminal offence in section 45 of the Human Tissue Act 2004, which is being used to regulate this activity, is inappropriate and inadequate to do so. The threat of the shadow of the criminal law is too blunt an instrument to address the subtleties of the issues that arise in the context of posthumous paternity testing. We call for reform of the Human Tissue Act 2004 and the creation of a specific exception to properly deal with requests of this nature. © The Author 2015. Published by Oxford University Press; all rights reserved. For Permissions, please email: journals.permissions@oup.com.

Different degree of paternal mtDNA leakage between male and female progeny in interspecific Drosophila crosses

PubMed Central

Dokianakis, Emmanouil; Ladoukakis, Emmanuel D

2014-01-01

Maternal transmission of mitochondrial DNA (mtDNA) in animals is thought to prevent the spread of selfish deleterious mtDNA mutations in the population. Various mechanisms have been evolved independently to prevent the entry of sperm mitochondria in the embryo. However, the increasing number of instances of paternal mtDNA leakage suggests that these mechanisms are not very effective. The destruction of sperm mitochondria in mammalian embryos is mediated by nuclear factors. Also, the destruction of paternal mitochondria in intraspecific crosses is more effective than in interspecific ones. These observations have led to the hypothesis that leakage of paternal mtDNA (and consequently mtDNA recombination owing to ensuing heteroplasmy) might be more common in inter- than in intraspecific crosses and that it should increase with phylogenetic distance of hybridizing species. We checked paternal leakage in inter- and intraspecific crosses in Drosophila and found little evidence for this hypothesis. In addition, we have observed a higher level of leakage among male than among female progeny from the same cross. This is the first report of sex-specific leakage of paternal mtDNA. It suggests that paternal mtDNA leakage might not be a stochastic result of an error-prone mechanism, but rather, it may be under complex genetic control. PMID:25077015

Different degree of paternal mtDNA leakage between male and female progeny in interspecific Drosophila crosses.

PubMed

Dokianakis, Emmanouil; Ladoukakis, Emmanuel D

2014-07-01

Maternal transmission of mitochondrial DNA (mtDNA) in animals is thought to prevent the spread of selfish deleterious mtDNA mutations in the population. Various mechanisms have been evolved independently to prevent the entry of sperm mitochondria in the embryo. However, the increasing number of instances of paternal mtDNA leakage suggests that these mechanisms are not very effective. The destruction of sperm mitochondria in mammalian embryos is mediated by nuclear factors. Also, the destruction of paternal mitochondria in intraspecific crosses is more effective than in interspecific ones. These observations have led to the hypothesis that leakage of paternal mtDNA (and consequently mtDNA recombination owing to ensuing heteroplasmy) might be more common in inter- than in intraspecific crosses and that it should increase with phylogenetic distance of hybridizing species. We checked paternal leakage in inter- and intraspecific crosses in Drosophila and found little evidence for this hypothesis. In addition, we have observed a higher level of leakage among male than among female progeny from the same cross. This is the first report of sex-specific leakage of paternal mtDNA. It suggests that paternal mtDNA leakage might not be a stochastic result of an error-prone mechanism, but rather, it may be under complex genetic control.

Paternal Attachment, Parenting Beliefs and Children's Attachment

ERIC Educational Resources Information Center

Howard, Kimberly S.

2010-01-01

Relationships between fathers' romantic attachment style, parenting beliefs and father-child attachment security and dependence were examined in a diverse sample of 72 fathers of young children. Paternal romantic attachment style was coded based on fathers' endorsement of a particular style represented in the Hazan and Shaver Three-Category…

Trajectories Leading to Autism Spectrum Disorders Are Affected by Paternal Age: Findings from Two Nationally Representative Twin Studies

ERIC Educational Resources Information Center

Lundstrom, Sebastian; Haworth, Claire M. A.; Carlstrom, Eva; Gillberg, Christopher; Mill, Jonathan; Rastam, Maria; Hultman, Christina M.; Ronald, Angelica; Anckarsater, Henrik; Plomin, Robert; Lichtenstein, Paul; Reichenberg, Abraham

2010-01-01

Background: Despite extensive efforts, the causes of autism remain unknown. Advancing paternal age has been associated with various neurodevelopmental disorders. We aim to investigate three unresolved questions: (a) What is the association between paternal age and autism spectrum disorders (ASD)?; (b) Does paternal age moderate the genetic and…

Paternal postnatal depression in Japan: an investigation of correlated factors including relationship with a partner.

PubMed

Nishimura, Akiko; Fujita, Yuichi; Katsuta, Mayumi; Ishihara, Aya; Ohashi, Kazutomo

2015-05-31

A negative effect of paternal depression on child development has been revealed in several previous studies. The aims of this study were to examine the prevalence and relevant factors associated with paternal postnatal depression at four months postpartum, including age, part-time work or unemployment, experience of visiting a medical institution due to a mental health problem, economic anxiety, unexpected pregnancy, pregnancy with infertility treatment, first child, partner's depression, and lower marital relationship satisfaction. We distributed 2032 self-report questionnaires to couples (one mother and one father) with a 4-month old infant between January and April 2013. Data from 807 couples (39.7 %) were analyzed. Depressive symptoms were measured with the Edinburgh Postnatal Depression Scale (EPDS). In order to clarify the factors related with paternal depression, a logistic regression analysis was conducted. One hundred and ten fathers (13.6 %) and 83 mothers (10.3 %) were depressed. According to the logistic regression analysis, paternal depression was positively associated with partner's depression (adjusted odds ratio (AOR) 1.91, 95 % confidence interval (CI) 1.05-3.47), and negatively with marital relationship satisfaction (AOR 0.83, 95 % CI 0.77-0.89). History of infertility treatment (AOR 2.37, 95 % CI 1.32-4.24), experience of visiting a medical institution due to a mental health problem (AOR 4.56, 95 % CI 2.06-10.08), and economic anxiety (AOR 2.15, 95 % CI 1.34-3.45) were also correlated with paternal depression. This study showed that the prevalence of paternal depression at four months after childbirth was 13.6 % in Japan. The presence of partner's depression and low marital relationship satisfaction were significantly correlated with paternal postpartum depression, suggesting that health professionals need to pay attention to the mental status of both fathers and mothers, and to their relationship.

Paternalism and partial autonomy.

PubMed Central

O'Neill, O

1984-01-01

A contrast is often drawn between standard adult capacities for autonomy, which allow informed consent to be given or withheld, and patients' reduced capacities, which demand paternalistic treatment. But patients may not be radically different from the rest of us, in that all human capacities for autonomous action are limited. An adequate account of paternalism and the role that consent and respect for persons can play in medical and other practice has to be developed within an ethical theory that does not impose an idealised picture of unlimited autonomy but allows for the variable and partial character of actual human autonomy. PMID:6520849

Case–control study of paternal occupation and childhood leukaemia in Great Britain, 1962–2006

PubMed Central

Keegan, T J; Bunch, K J; Vincent, T J; King, J C; O'Neill, K A; Kendall, G M; MacCarthy, A; Fear, N T; MFG, Murphy

2012-01-01

Background: Paternal occupational exposures have been proposed as a risk factor for childhood leukaemia. This study investigates possible associations between paternal occupational exposure and childhood leukaemia in Great Britain. Methods: The National Registry of Childhood Tumours provided all cases of childhood leukaemia born and diagnosed in Great Britain between 1962 and 2006. Controls were matched on sex, period of birth and birth registration subdistrict. Fathers' occupations were assigned to 1 or more of 33 exposure groups. Social class was derived from father's occupation at the time of the child's birth. Results: A total of 16 764 cases of childhood leukaemia were ascertained. One exposure group, paternal social contact, was associated with total childhood leukaemia (odds ratio 1.14, 1.05–1.23); this association remained significant when adjusted for social class. The subtypes lymphoid leukaemia (LL) and acute myeloid leukaemia showed increased risk with paternal exposure to social contact before adjustment for social class. Risk of other leukaemias was significantly increased by exposure to electromagnetic fields, persisting after adjustment for social class. For total leukaemia, the risks for exposure to lead and exhaust fumes were significantly <1. Occupationally derived social class was associated with risk of LL, with the risk being increased in the higher social classes. Conclusion: Our results showed some support for a positive association between childhood leukaemia risk and paternal occupation involving social contact. Additionally, LL risk increased with higher paternal occupational social class. PMID:22968649

Maternal depression, paternal psychopathology, and toddlers' behavior problems.

PubMed

Dietz, Laura J; Jennings, Kay Donahue; Kelley, Sue A; Marshal, Michael

2009-01-01

This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers' lives and/or mediated by maternal parenting behavior observed during mother-child interaction (Time 2). Of the 101 mothers who participated in this longitudinal study with their toddlers, 51 had never experienced an episode of Major Depressive Disorder (MDD) and 50 had experienced an episode of MDD during the first 18 months of their toddlers' lives. Maternal depression at Time 1 was significantly associated with toddlers' externalizing and internalizing behavior problems only when paternal psychopathology was present. As predicted, maternal negativity at Time 2 was found to mediate the relationship between maternal depression at Time 1 and toddlers' externalizing behavior problems at Time 3.

Maternal Depression, Paternal Psychopathology, and Toddlers’ Behavior Problems

PubMed Central

Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

2013-01-01

This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers’ lives and/or or mediated by maternal parenting behavior observed during mother–child interaction (Time 2). Of the 101 mothers who participated in this longitudinal study with their toddlers, 51 had never experienced an episode of Major Depressive Disorder (MDD) and 50 had experienced an episode of MDD during the first 18 months of their toddlers’ lives. Maternal depression at Time 1 was significantly associated with toddlers’ externalizing and internalizing behavior problems only when paternal psychopathology was present. As predicted, maternal negativity at Time 2 was found to mediate the relationship between maternal depression at Time 1 and toddlers’ externalizing behavior problems at Time 3. PMID:19130357

Displays of paternal mouse pup retrieval following communicative interaction with maternal mates.

PubMed

Liu, Hong-Xiang; Lopatina, Olga; Higashida, Chiharu; Fujimoto, Hiroko; Akther, Shirin; Inzhutova, Alena; Liang, Mingkun; Zhong, Jing; Tsuji, Takahiro; Yoshihara, Toru; Sumi, Kohei; Ishiyama, Mizuho; Ma, Wen-Jie; Ozaki, Mitsunori; Yagitani, Satoshi; Yokoyama, Shigeru; Mukaida, Naofumi; Sakurai, Takeshi; Hori, Osamu; Yoshioka, Katsuji; Hirao, Atsushi; Kato, Yukio; Ishihara, Katsuhiko; Kato, Ichiro; Okamoto, Hiroshi; Cherepanov, Stanislav M; Salmina, Alla B; Hirai, Hirokazu; Asano, Masahide; Brown, David A; Nagano, Isamu; Higashida, Haruhiro

2013-01-01

Compared with the knowledge of maternal care, much less is known about the factors required for paternal parental care. Here we report that new sires of laboratory mice, though not spontaneously parental, can be induced to show maternal-like parental care (pup retrieval) using signals from dams separated from their pups. During this interaction, the maternal mates emit 38-kHz ultrasonic vocalizations to their male partners, which are equivalent to vocalizations that occur following pheromone stimulation. Without these signals or in the absence of maternal mates, the sires do not retrieve their pups within 5 min. These results show that, in mice, the maternal parent communicates to the paternal parent to encourage pup care. This new paradigm may be useful in the analysis of the parental brain during paternal care induced by interactive communication.

The interactive effect of paternal problem drinking and maternal problem drinking on adolescent internalizing problems.

PubMed

Ohannessian, Christine McCauley

2015-11-01

This study examined the effects of both paternal problem drinking and maternal problem drinking on adolescent internalizing problems (depression and anxiety symptomatology). Surveys were administered to 566 10th and 11th grade students from the Mid-Atlantic region of the U.S. in the spring of 2007 and again in the spring of 2008. Although significant main effects were not observed, significant interactions were found between paternal problem drinking and maternal problem drinking for internalizing problems, especially for boys. In general, these interactions indicated that when paternal problem drinking was high, depression symptomatology and anxiety symptomatology were lower if maternal problem drinking was low. Findings from this study highlight the need to consider both paternal and maternal problem drinking when examining the effects that parental problem drinking may have on adolescent adjustment. Copyright © 2015 Elsevier Ltd. All rights reserved.

Abernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report.

PubMed

Mi, Xiao-Xiao; Li, Xiao-Guang; Wang, Zi-Rong; Lin, Ling; Xu, Chun-Hai; Shi, Jun-Ping

2017-08-16

Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli's syndrome. The combination of Abernethy malformation and Caroli's syndrome has not been reported previously. We present the case of a 23-year-old female who was found to have both type II Abernethy malformation and Caroli's syndrome. Radiological imaging was performed, including computed tomography with three-dimensional reconstruction and magnetic resonance imaging with (magnetic resonance cholangiopancreatography (MRCP), which revealed a side-to-side portocaval shunt, intrahepatic bile duct dilation, congenital hepatic fibrosis, and renal cysts. In addition, PKHD1 (polycystic kidney and hepatic disease 1) gene mutational analysis revealed a paternally inherited heterozygous missense mutation (c.1877A > G, p.Lys626Arg). A liver biopsy confirmed the pathological features of Caroli's syndrome. To our knowledge, this is the first reported case of a patient with both type II Abernethy malformation and Caroli's syndrome diagnosed using a comprehensive approach that included imaging, mutational analysis, and liver biopsy. Additionally, this is the second reported case to date of an Asian patient presenting with liver and renal disorders with the same paternally inherited PKHD1 missense mutation.

I Want to but I Won't: Pluralistic Ignorance Inhibits Intentions to Take Paternity Leave in Japan.

PubMed

Miyajima, Takeru; Yamaguchi, Hiroyuki

2017-01-01

The number of male employees who take paternity leave in Japan has been low in past decades. However, the majority of male employees actually wish to take paternity leave if they were to have a child. Previous studies have demonstrated that the organizational climate in workplaces is the major determinant of male employees' use of family-friendly policies, because males are often stigmatized and fear receiving negative evaluation from others. While such normative pressure might be derived from prevailing social practices relevant to people's expectation of social roles (e.g., "Men make houses, women make homes"), these social practices are often perpetuated even after the majority of group members have ceased to support them. The perpetuation of this unpopular norm could be caused by the social psychological phenomenon of pluralistic ignorance. While researches have explored people's beliefs about gender roles from various perspectives, profound understanding of these beliefs regarding gender role norms, and the accuracy of others' beliefs remains to be attained. The current research examined the association between pluralistic ignorance and the perpetually low rates of taking paternity leave in Japan. Specifically, Study 1 ( n = 299) examined Japanese male employees' (ages ranging from the 20 s to the 40 s) attitudes toward paternity leave and to estimate attitudes of other men of the same age, as well as behavioral intentions (i.e., desire and willingness) to take paternity leave if they had a child in the future. The results demonstrated that male employees overestimated other men's negative attitudes toward paternity leave. Moreover, those who had positive attitudes toward taking leave and attributed negative attitudes to others were less willing to take paternity leave than were those who had positive attitudes and believed others shared those attitudes, although there was no significant difference between their desires to take paternity leave. Study 2 ( n

I Want to but I Won't: Pluralistic Ignorance Inhibits Intentions to Take Paternity Leave in Japan

PubMed Central

Miyajima, Takeru; Yamaguchi, Hiroyuki

2017-01-01

The number of male employees who take paternity leave in Japan has been low in past decades. However, the majority of male employees actually wish to take paternity leave if they were to have a child. Previous studies have demonstrated that the organizational climate in workplaces is the major determinant of male employees' use of family-friendly policies, because males are often stigmatized and fear receiving negative evaluation from others. While such normative pressure might be derived from prevailing social practices relevant to people's expectation of social roles (e.g., “Men make houses, women make homes”), these social practices are often perpetuated even after the majority of group members have ceased to support them. The perpetuation of this unpopular norm could be caused by the social psychological phenomenon of pluralistic ignorance. While researches have explored people's beliefs about gender roles from various perspectives, profound understanding of these beliefs regarding gender role norms, and the accuracy of others' beliefs remains to be attained. The current research examined the association between pluralistic ignorance and the perpetually low rates of taking paternity leave in Japan. Specifically, Study 1 (n = 299) examined Japanese male employees' (ages ranging from the 20 s to the 40 s) attitudes toward paternity leave and to estimate attitudes of other men of the same age, as well as behavioral intentions (i.e., desire and willingness) to take paternity leave if they had a child in the future. The results demonstrated that male employees overestimated other men's negative attitudes toward paternity leave. Moreover, those who had positive attitudes toward taking leave and attributed negative attitudes to others were less willing to take paternity leave than were those who had positive attitudes and believed others shared those attitudes, although there was no significant difference between their desires to take paternity leave. Study 2 (n

The relation between maternal schizophrenia and low birth weight is modified by paternal age.

PubMed

Lin, Herng-Ching; Lee, Hsin-Chien; Tang, Chao-Hsuin; Chen, Yi-Hua

2010-06-01

Paternal characteristics have never been considered in the relation between maternal schizophrenia and adverse pregnancy outcomes. The aim of our study was to consider different paternal ages while investigating the relation between maternal schizophrenia and low birth weight (LBW), using a nationwide population-based dataset. Our study used data from the 2001 to 2003 Taiwan National Health Insurance Research Dataset and birth certificate registry. A total of 543 394 singleton live births were included. We performed multivariate logistic regression analyses to explore the relation between maternal schizophrenia and the risk of LBW, taking different paternal age groups into account (aged 29 years or younger, 30 to 39 years, and 40 years and older), and after adjusting for other characteristics of infant, mother, and father as well as the difference between the parent's ages. Mothers with schizophrenia had a higher percentage of LBW infants than mothers who did not (11.8%, compared with 6.8%). For infants whose mothers had schizophrenia, the adjusted odds ratios of LBW were 1.47 (95% CI 1.02 to 2.27, P < 0.05) and 2.80 (95% CI 1.42 to 5.51, P < 0.01) times greater than for infants whose mothers did not have schizophrenia, for paternal age groups of 30 to 39 years and 40 years or older, respectively. However, maternal schizophrenia was not a significant predictor of LBW for infants whose fathers were aged 29 years and younger. The relation between LBW and maternal schizophrenia is modified by paternal age. More attention should be paid to the interaction of paternal characteristics and maternal psychiatric disorders in producing adverse pregnancy outcomes.

Controversies in oncologist-patient communication: a nuanced approach to autonomy, culture, and paternalism.

PubMed

Cherny, Nathan I

2012-01-01

Difficult dialogues with patients facing life-changing decisions are an intrinsic part of oncologic practice and a major source of stress. Having a sophisticated approach to the concepts of autonomy, paternalism, and culture can help in addressing difficult dilemmas that arise around the issues of disclosure and decision making. This article addresses some of the most common major challenges in oncologist-patient communication with a nuanced approach to the concepts of autonomy, paternalism, and culture. It introduces the new concept of"voluntary diminished autonomy" and describes the implications this concept has for the consent process. It also attempts to bring clarity to common problems and misconceptions relating to culture, paternalism, and therapeutic privilege as these pertain to the communication practices of oncologists.

Was bioethics founded on historical and conceptual mistakes about medical paternalism?

PubMed

McCullough, Laurence B

2011-02-01

Bioethics has a founding story in which medical paternalism, the interference with the autonomy of patients for their own clinical benefit, was an accepted ethical norm in the history of Western medical ethics and was widespread in clinical practice until bioethics changed the ethical norms and practice of medicine. In this paper I show that the founding story of bioethics misreads major texts in the history of Western medical ethics. I also show that a major source for empirical claims about the widespread practice of medical paternalism has been misread. I then show that that bioethics based on its founding story deprofessionalizes medical ethics. The result leaves the sick exposed to the predatory power of medical practitioners and healthcare organizations with only their autonomy-based rights to non-interference, expressed in contracts, to protect them. The sick are stripped of the protection afforded by a professional, fiduciary relationship of physicians to their patients. Bioethics based on its founding story reverts to the older model of a contractual relationship between the sick and medical practitioners not worthy of intellectual or moral trust (because such trust cannot be generated by what I call 'deprofessionalizing bioethics'). On closer examination, bioethics based on its founding story, ironically, eliminates paternalism as a moral category in bioethics, thus causing bioethics to collapse on itself because it denies one of the necessary conditions for medical paternalism. Bioethics based on its founding story should be abandoned. © 2010 Blackwell Publishing Ltd.

PATERNAL ALCOHOLISM AND OFFSPRING ADHD PROBLEMS: A CHILDREN OF TWINS DESIGN

PubMed Central

Knopik, Valerie S.; Jacob, Theodore; Haber, Jon Randolph; Swenson, Lance P.; Howell, Donelle N.

2013-01-01

Objective A recent Children-of-Female-Twin design suggests that the association between maternal alcohol use disorder and offspring ADHD is due to a combination of genetic and environmental factors, such as prenatal nicotine exposure. We present here a complementary analysis using a Children-of-Male-Twin design examining the association between paternal alcoholism and offspring attention deficit hyperactivity problems (ADHP). Methods Children-of-twins design: offspring were classified into 4 groups of varying genetic and environmental risk based on father and co-twin’s alcohol dependence status. Results Univariate results are suggestive of a genetic association between paternal alcohol dependence and broadly defined offspring ADHP. Specifically, offspring of male twins with a history of DSM-III-R alcohol dependence, as well as offspring of non-alcohol dependent monozygotic twins whose cotwin was alcohol dependent, were significantly more likely to exhibit ADHP than control offspring. However, multivariate models show maternal variables independently predicting increased risk for offspring ADHP and significantly decreased support for a genetic mechanism of parent-to-child transmission. Conclusions In support of earlier work, maternal variables (i.e., maternal ADHD and prenatal exposure) were strongly associated with child ADHP; however, the role of paternal alcohol dependence influences was not definitive. While genetic transmission may be important, the association between paternal alcohol dependence and child ADHP is more likely to be indirect and a result of several pathways. PMID:19210180

Paternal environmental enrichment transgenerationally alters affective behavioral and neuroendocrine phenotypes.

PubMed

Yeshurun, Shlomo; Short, Annabel K; Bredy, Timothy W; Pang, Terence Y; Hannan, Anthony J

2017-03-01

Recent studies have demonstrated that paternal stress in rodents can result in modification of offspring behavior. Environmental enrichment, which enhances cognitive stimulation and physical activity, modifies various behaviors and reduces stress responses in adult rodents. We investigated the transgenerational influence of paternal environmental enrichment on offspring behavior and physiological stress response. Adult C57BL/6J male mice (F0) were exposed to either environmental enrichment or standard housing for four weeks and then pair-mated with naïve females. The F2 generation was generated using F1 male offspring. Male and female F1 and F2 offspring were tested for anxiety using the elevated-plus maze and large open field at 8 weeks of age. Depression-related behavior was assessed using the forced-swim test. Hypothalamic-pituitary-adrenal (HPA) axis function was determined by quantification of serum corticosterone and adrenocorticotropic hormone (ACTH) levels at baseline and after forced-swim stress. Paternal environmental enrichment was associated with increased body weights of male F1 and F2 offspring. There was no significant effect on F1 offspring anxiety and depression-related behaviors. There were no changes in anxiety-related behaviors in the F2 offspring, however these mice displayed a reduced latency to immobility in the forced-swim test. Furthermore, F2 females had significantly higher serum corticosterone levels post-stress, but not ACTH. These results show that paternal environmental enrichment exerts a sex-specific transgenerational impact on the behavioral and physiological response to stress. Our findings have implications for the modelling of psychiatric disorders in rodents. Copyright © 2017 Elsevier Ltd. All rights reserved.

What Provisions Do Orthopaedic Programs Make for Maternity, Paternity, and Adoption Leave?

PubMed

Weiss, Jennifer; Teuscher, David

2016-09-01

The process of choosing medical specialty and residency programs is multifaceted. Today's generation of medical students may have an increased interest in work-life balance and time with their families. In considering this factor, medical students may be influenced by policy regarding maternity, paternity, and adoption leave during residency and fellowship training. Current policy among orthopaedic programs regarding maternity, paternity, and adoption leave is not well described. To understand the influence these policies may have on the choices that medical students make in choosing their specialty, the policies must first be better understood. (1) What proportion of orthopaedic programs have formal or unwritten policies regarding maternity, paternity, and adoptive leave? (2) What are the provisions for time away, allotment of time, and makeup options for trainees who take leave? (3) What proportion of orthopaedic programs report utilization of leave, and what proportions of leave are for maternity, paternity, or adoptive reasons? Accredited programs in orthopaedic surgery were identified through the Council of Orthopedic Residency Directors within the American Orthopaedic Association. Current program directors of these accredited programs were surveyed. The survey was emailed to 144 program directors, of which 141 emails were delivered. Responses were received from 45 program directors, representing 31% of programs. The survey focused on maternity, paternity, and adoptive leave, and it consisted of questions designed to explore program policies (formal, unwritten, no policy, or in development), time considerations (amount allowed, allocation of time away, and makeup requirements), and utilization (trainees who took leave and type of leave used). Most respondents have maternity leave policy (formal: 36 of 45 [80%]; unwritten: 17 of 45 [38%]). Sixteen programs (16 of 45 [36%]) reported having both a formal and an unwritten maternity leave policy. Less than half of

Paternal investment and status-related child outcomes: timing of father's death affects offspring success.

PubMed

Shenk, Mary K; Scelza, Brooke A

2012-09-01

Recent work in human behavioural ecology has suggested that analyses focusing on early childhood may underestimate the importance of paternal investment to child outcomes since such investment may not become crucial until adolescence or beyond. This may be especially important in societies with a heritable component to status, as later investment by fathers may be more strongly related to a child's adult status than early forms of parental investment that affect child survival and child health. In such circumstances, the death or absence of a father may have profoundly negative effects on the adult outcomes of his children that cannot be easily compensated for by the investment of mothers or other relatives. This proposition is tested using a multigenerational dataset from Bangalore, India, containing information on paternal mortality as well as several child outcomes dependent on parental investment during adolescence and young adulthood. The paper examines the effects of paternal death, and the timing of paternal death, on a child's education, adult income, age at marriage and the amount spent on his or her marriage, along with similar characteristics of spouses. Results indicate that a father's death has a negative impact on child outcomes, and that, in contrast to some findings in the literature on father absence, the effects of paternal death are strongest for children who lose their father in late childhood or adolescence.

Paternal kin recognition in the high frequency / ultrasonic range in a solitary foraging mammal

PubMed Central

2012-01-01

Background Kin selection is a driving force in the evolution of mammalian social complexity. Recognition of paternal kin using vocalizations occurs in taxa with cohesive, complex social groups. This is the first investigation of paternal kin recognition via vocalizations in a small-brained, solitary foraging mammal, the grey mouse lemur (Microcebus murinus), a frequent model for ancestral primates. We analyzed the high frequency/ultrasonic male advertisement (courtship) call and alarm call. Results Multi-parametric analyses of the calls’ acoustic parameters and discriminant function analyses showed that advertisement calls, but not alarm calls, contain patrilineal signatures. Playback experiments controlling for familiarity showed that females paid more attention to advertisement calls from unrelated males than from their fathers. Reactions to alarm calls from unrelated males and fathers did not differ. Conclusions 1) Findings provide the first evidence of paternal kin recognition via vocalizations in a small-brained, solitarily foraging mammal. 2) High predation, small body size, and dispersed social systems may select for acoustic paternal kin recognition in the high frequency/ultrasonic ranges, thus limiting risks of inbreeding and eavesdropping by predators or conspecific competitors. 3) Paternal kin recognition via vocalizations in mammals is not dependent upon a large brain and high social complexity, but may already have been an integral part of the dispersed social networks from which more complex, kin-based sociality emerged. PMID:23198727

Object-oriented Bayesian networks for paternity cases with allelic dependencies

PubMed Central

Hepler, Amanda B.; Weir, Bruce S.

2008-01-01

This study extends the current use of Bayesian networks by incorporating the effects of allelic dependencies in paternity calculations. The use of object-oriented networks greatly simplify the process of building and interpreting forensic identification models, allowing researchers to solve new, more complex problems. We explore two paternity examples: the most common scenario where DNA evidence is available from the alleged father, the mother and the child; a more complex casewhere DNA is not available from the alleged father, but is available from the alleged father’s brother. Object-oriented networks are built, using HUGIN, for each example which incorporate the effects of allelic dependence caused by evolutionary relatedness. PMID:19079769

Depression symptoms among Mexican American youth: paternal parenting in the context of maternal parenting, economic stress, and youth gender.

PubMed

García, Jorge I Ramírez; Manongdo, Jennifer A; Ozechowski, Timothy J

2014-01-01

Mexican American youth (N = 146; age range: 14-19 years) living in an immigrant enclave who resided with both parents reported depression symptoms, paternal and maternal acceptance, paternal and maternal harsh parenting, and economic stress. Despite lower levels of youth-reported paternal parenting relative to maternal parenting, paternal acceptance was significantly related to youth depression symptoms in a path model that accounted for parenting intercorrelations as well as other significant correlates of youth depression symptoms. We found evidence suggesting that the relation between youth-reported paternal acceptance and depression might be stronger for girls than for boys. Using an ecological analytic framework, we found that: (a) the link between economic stress and youth depression was robust, and (b) only one parenting variable (paternal acceptance) may partially mediate the link between economic stress and depression symptoms. Our results suggest that paternal parenting and youth gender deserve further consideration in longitudinal research and intervention research addressing depression among Latino youth. Ecological models that highlight the influence of settings where Latino youth and families live should be considered in research on the family relationship context of youth depression.

Fathers Matter: Why It’s Time to Consider the Impact of Paternal Environmental Exposures on Children’s Health

PubMed Central

Braun, Joseph M.; Messerlian, Carmen; Hauser, Russ

2017-01-01

Purpose Despite accumulating evidence from experimental animal studies showing that paternal environmental exposures induce genetic and epigenetic alterations in sperm which in turn increase the risk of adverse health outcomes in offspring, there is limited epidemiological data on the effects of human paternal preconception exposures on children’s health. We summarize animal and human studies showing that paternal preconception environmental exposures influence offspring health. We discuss specific approaches and designs for human studies to investigate the health effects of paternal preconception exposures, the specific challenges these studies may face, and how we might address them. Recent Findings In animal studies, paternal preconception diet, stress, and chemical exposures have been associated with offspring health and these effects are mediated by epigenetic modifications transmitted through sperm DNA, histones, and RNA. Most epidemiological studies have examined paternal preconception occupational exposures and their effect on the risk of birth defects and childhood cancer; few have examined the effects of low-level general population exposure to environmental toxicants. While the design and execution of epidemiological studies of paternal preconception exposures face challenges, particularly with regard to selection bias and recruitment, we believe these are tractable and that preconception studies are feasible. Summary New or augmented prospective cohort studies would be the optimal method to address the critical knowledge gaps on the effect of paternal preconception exposures on prevalent childhood health outcomes. Determining if this period of life represents a window of heightened vulnerability would improve our understanding of modifiable risk factors for children’s health and wellbeing. PMID:28848695

Maternity and paternity in the Pelotas birth cohort from 1982 to 2004-5, Southern Brazil

PubMed Central

Gigante, Denise P; Barros, Fernando C; Veleda, Rosângela; Gonçalves, Helen; Horta, Bernardo L; Victora, Cesar G

2009-01-01

OBJECTIVE To describe the prevalence of maternity and paternity among subjects and its association with perinatal, socioeconomic and demographic variables. METHODS The participants were youth, aged 23, on the average, accompanied in a cohort study since they were born, in 1982, in Pelotas (Southern Brazil) and interviewed in 2004-5. Those who were considered eligible referred having had one or more children, whether these were liveborns or stillborns. Data was collected on reproductive health as well as socioeconomic and demographic information, by means of two different instruments. The independent variables were sex and skin color, family income in 1982 and in 2004-5, changes in income, birth weight and educational level when aged 23 years old. Crude and adjusted analysis were conducted by means of Poisson regression so as to investigate the effects of the independent variables on maternity/paternity during adolescence. RESULTS Among the 4,297 youth interviewed, 1,373 (32%) were parents and 842 (19.6%) of these had experienced maternity/paternity during their adolescence. Planned pregnancy of the first child was directly related to the youth’s age. Socioeconomic variables were inversely related to the occurrence of maternity/paternity during adolescence. The probability of being an adolescent mother was higher among black and mixed skin colored women, but skin color was not associated to adolescent paternity. CONCLUSIONS There was a strong relation between adolescent maternity/paternity and socioeconomic conditions, which should be taken into consideration when delineating preventive actions in the field of public health. PMID:19142344

Paternal stress exposure alters sperm microRNA content and reprograms offspring HPA stress axis regulation

PubMed Central

Rodgers, Ali B.; Morgan, Christopher P.; Bronson, Stefanie L.; Revello, Sonia; Bale, Tracy L.

2013-01-01

Neuropsychiatric disease frequently presents with an underlying hypo- or hyper- reactivity of the HPA stress axis, suggesting an exceptional vulnerability of this circuitry to external perturbations. Parental lifetime exposures to environmental challenges are associated with increased offspring neuropsychiatric disease risk, and likely contribute to stress dysregulation. While maternal influences have been extensively examined, much less is known regarding the specific role of paternal factors. To investigate the potential mechanisms by which paternal stress may contribute to offspring hypothalamic-pituitary-adrenal (HPA) axis dysregulation, we exposed mice to six weeks of chronic stress prior to breeding. As epidemiological studies support variation in paternal germ cell susceptibility to reprogramming across the lifespan, male stress exposure occurred either throughout puberty or in adulthood. Remarkably, offspring of sires from both paternal stress groups displayed significantly reduced HPA axis stress responsivity. Gene set enrichment analyses in offspring stress regulating brain regions, the paraventricular nucleus (PVN) and the bed nucleus of stria terminalis (BNST), revealed global pattern changes in transcription suggestive of epigenetic reprogramming and consistent with altered offspring stress responsivity, including increased expression of glucocorticoid-responsive genes in the PVN. In examining potential epigenetic mechanisms of germ cell transmission, we found robust changes in sperm miRNA (miR) content, where nine specific miRs were significantly increased in both paternal stress groups. Overall, these results demonstrate that paternal experience across the lifespan can induce germ cell epigenetic reprogramming and impact offspring HPA stress axis regulation, and may therefore offer novel insight into factors influencing neuropsychiatric disease risk. PMID:23699511

Modelling uncertain paternity to address differential pedigree accuracy

USDA-ARS?s Scientific Manuscript database

The objective was to implement uncertain parentage models to account for differences in daughter pedigree accuracy. Elite sires have nearly all daughters genotyped resulting in correct paternity assignment. Bulls of lesser genetic merit have fewer daughters genotyped creating the possibility for mor...

Paternity testing in an autotetraploid alfalfa breeding polycross

USDA-ARS?s Scientific Manuscript database

Determining unknown parentage in autotetraploid alfalfa (Medicago sativa L.) (2n = 4x = 32) can improve breeding gains. Exclusion analysis based paternity testing SAS code is presented, amenable to genotyping errors, for autotetraploid species utilizing co-dominant molecular markers with ambiguous d...

Paternal age related schizophrenia (PARS): Latent subgroups detected by k-means clustering analysis.

PubMed

Lee, Hyejoo; Malaspina, Dolores; Ahn, Hongshik; Perrin, Mary; Opler, Mark G; Kleinhaus, Karine; Harlap, Susan; Goetz, Raymond; Antonius, Daniel

2011-05-01

Paternal age related schizophrenia (PARS) has been proposed as a subgroup of schizophrenia with distinct etiology, pathophysiology and symptoms. This study uses a k-means clustering analysis approach to generate hypotheses about differences between PARS and other cases of schizophrenia. We studied PARS (operationally defined as not having any family history of schizophrenia among first and second-degree relatives and fathers' age at birth ≥ 35 years) in a series of schizophrenia cases recruited from a research unit. Data were available on demographic variables, symptoms (Positive and Negative Syndrome Scale; PANSS), cognitive tests (Wechsler Adult Intelligence Scale-Revised; WAIS-R) and olfaction (University of Pennsylvania Smell Identification Test; UPSIT). We conducted a series of k-means clustering analyses to identify clusters of cases containing high concentrations of PARS. Two analyses generated clusters with high concentrations of PARS cases. The first analysis (N=136; PARS=34) revealed a cluster containing 83% PARS cases, in which the patients showed a significant discrepancy between verbal and performance intelligence. The mean paternal and maternal ages were 41 and 33, respectively. The second analysis (N=123; PARS=30) revealed a cluster containing 71% PARS cases, of which 93% were females; the mean age of onset of psychosis, at 17.2, was significantly early. These results strengthen the evidence that PARS cases differ from other patients with schizophrenia. Hypothesis-generating findings suggest that features of PARS may include a discrepancy between verbal and performance intelligence, and in females, an early age of onset. These findings provide a rationale for separating these phenotypes from others in future clinical, genetic and pathophysiologic studies of schizophrenia and in considering responses to treatment. Copyright © 2011 Elsevier B.V. All rights reserved.

Paternal stress prior to conception alters DNA methylation and behaviour of developing rat offspring.

PubMed

Mychasiuk, R; Harker, A; Ilnytskyy, S; Gibb, R

2013-06-25

Although there has been an abundance of research focused on offspring outcomes associated with maternal experiences, there has been limited examination of the relationship between paternal experiences and offspring brain development. As spermatogenesis is a continuous process, experiences that have the ability to alter epigenetic regulation in fathers may actually change developmental trajectories of offspring. The purpose of this study was to examine the effects of paternal stress prior to conception on behaviour and the epigenome of both male and female developing rat offspring. Male Long-Evans rats were stressed for 27 consecutive days and then mated with control female rats. Early behaviour was tested in offspring using the negative geotaxis task and the open field. At P21 offspring were sacrificed and global DNA methylation levels in the hippocampus and frontal cortex were analysed. Paternal stress prior to conception altered behaviour of all offspring on the negative geotaxis task, delaying acquisition of the task. In addition, male offspring demonstrated a reduction in stress reactivity in the open field paradigm spending more time than expected in the centre of the open field. Paternal stress also altered DNA methylation patterns in offspring at P21, global methylation was reduced in the frontal cortex of female offspring, but increased in the hippocampus of both male and female offspring. The results from this study clearly demonstrate that paternal stress during spermatogenesis can influence offspring behaviour and DNA methylation patterns, and these affects occur in a sex-dependent manner. Development takes place in the centre of a complex interaction between maternal, paternal, and environmental influences, which combine to produce the various phenotypes and individual differences that we perceive. Copyright © 2013 IBRO. Published by Elsevier Ltd. All rights reserved.

Is Paternal Smoking at Conception a Risk for ADHD? A Controlled Study in Youth With and Without ADHD.

PubMed

Biederman, Joseph; Fitzgerald, Maura; Spencer, Thomas J; Bhide, Pradeep G; McCarthy, Deirdre M; Woodworth, K Yvonne; Saunders, Alexandra; Faraone, Stephen V

2017-02-01

Based on emerging preclinical findings suggesting that paternal smoking at conception may be a risk for ADHD in the offspring, we investigated whether a similar effect can be observed in humans. We analyzed data from an opportunistic dataset of girl probands with ( N = 140) and without ( N = 122) ADHD with available information on paternal smoking at conception. Data were analyzed using Pearson's chi-square tests and multiple logistic regression. ADHD probands had a significantly higher rate of paternal smoking at conception than controls (35% vs. 23%, χ 2 = 3.82, p = .05) with a significant odds ratio of 1.5. However, the association lost significance after controlling for paternal ADHD, most likely due to limited statistical power. While preliminary, findings suggest that paternal smoking at conception may be a risk factor for ADHD in the offspring.

Paternal smoking and spontaneous abortion: a population-based retrospective cohort study among non-smoking women aged 20-49 years in rural China.

PubMed

Wang, Long; Yang, Ying; Liu, Fangchao; Yang, Aimin; Xu, Qin; Wang, Qiaomei; Shen, Haiping; Zhang, Yiping; Yan, Donghai; Peng, Zuoqi; He, Yuan; Wang, Yuanyuan; Xu, Jihong; Zhao, Jun; Zhang, Hongguang; Zhang, Ya; Dai, Qiaoyun; Ma, Xu

2018-06-11

To comprehensively evaluate the association of paternal smoking and spontaneous abortion. We conducted a population-based retrospective cohort study among 5 770 691 non-smoking rural Chinese women, along with their husbands, participating in the National Free Pre-Pregnancy Checkups Project, regarding outcome events that occurred in 2010-2016. The main outcome was spontaneous abortion (SA). Multivariable logistic regression was used to estimate OR and 95% CI, and restricted cubic spline was used to estimate the non-linear relationship. The multivariable-adjusted OR of exposure to paternal smoking for SA was 1.17 (95% CI 1.16 to 1.19), compared with women without exposure to paternal smoking; and corresponding OR of exposure to preconception paternal smoking for SA was 1.11 (95% CI 1.08 to 1.14), compared with women without exposure to preconception paternal smoking. The ORs of preconception paternal smoking also increased with increases in paternal smoking (p nonlinear <0.05, almost linearly shaped) and preconception paternal smoking (p nonlinear >0.05). In addition, periconception paternal smoking cessation was associated with an 18% (15%-22%) lower risk of SA. Paternal smoking was associated with SA. The importance of tobacco control, specifically pertaining to paternal smoking, should be emphasised during preconception and pregnancy counselling. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Paternal and sibling incest: a case report.

PubMed

Celbis, Osman; Ozcan, M Erkan; Ozdemir, Bora

2006-01-01

A case is reported of a female victim of paternal incest, who had also been raped repeatedly by her elder brother for two years. A survey of the literature showed no other report of such a case from Turkey. This does not necessarily mean that the incidence of paternal and sibling incest does not happen, but may indicate that incestuous abuse is not reported or handled without making it known to legal authorities. The victim was first raped by her 16 year-old brother when she was 9 years old. He raped her repeatedly over a period of two years, until he left home. Her father began raping the victim when she was 13 year-old, leaving her pregnant at age 15. He took her to a doctor for a termination of pregnancy. The father continued abuse after the termination. The victim left home to marry a man. The father filed a lawsuit against the man for taking the victim away from home. More openness and awareness of incest in Turkey may encourage the victims to seek help from medical and legal authorities.

EXPLORING PATERNAL MATURITY IN THE RELATIONSHIPS BETWEEN OLDER FATHERS AND ADULT CHILDREN

PubMed Central

STELLE, CHARLIE D.; SHEEHAN, NANCY W.

2013-01-01

While research on parent-adult child relationships has expanded over the last two decades, most research has ignored the experiences of older fathers and their relationships with adult children. The present study sought to explore how midlife and older men assess the costs and rewards associated with their fatherhood experiences and how fathers’ level of paternal maturity influences their perceptions of fatherhood. More specifically, the purpose of the present study was two-fold: to explore the costs and rewards of fatherhood and whether paternal maturity serves as a moderator of older men’s fatherhood experiences. A purposive sample of 96 fathers (age 50–80) completed measures assessing ego development, generativity, and costs and rewards of fatherhood. The construct of paternal maturity, hypothesized to influence assessment of fatherhood experiences, was operationally defined as combining both affective (generativity) and cognitive (ego development) levels of psychological maturity. Results indicate mixed support for the influence of paternal maturity on fathers’ perceptions of costs and rewards. Overall, findings note that the affective side of maturity (generativity) is more strongly associated with fathers’ accounts of the costs and rewards than the cognitive side of maturity (ego development). Discussion centers on the utility of these concepts and the implications for continued research into the ongoing relationships between fathers and adult children. PMID:21391406

Securing Paternity by Mutilating Female Genitalia in Spiders.

PubMed

Mouginot, Pierick; Prügel, Josepha; Thom, Ulrike; Steinhoff, Philip O M; Kupryjanowicz, Janusz; Uhl, Gabriele

2015-11-16

Competition between males and their sperm over access to females and their eggs has resulted in manifold ways by which males try to secure paternity, ranging from physically guarding the female after mating to reducing her receptivity or her attractiveness to subsequent males by transferring manipulative substances or by mechanically sealing the female reproductive tract with a copulatory plug. Copulations may also result in internal damage of the female genitalia; however, this is not considered as a direct adaptation against sperm competition but as a collateral effect. Here, we present a drastic and direct mechanism for securing paternity: the removal of coupling structures on female genitalia by males. In the orb-weaving spider Larinia jeskovi males remove the scapus, a crucial coupling device on the female external genital region. Reconstruction of the coupling mechanism using micro-CT-scanned mating pairs revealed that several sclerites of the male genitalia interact to break off the scapus. Once it is removed, remating cannot occur due to mechanical coupling difficulties. In the field, male-inflicted genital damage is very prevalent since all female L. jeskovi were found to be mutilated at the end of the mating season. External genital mutilation is an overlooked but widely spread phenomenon since 80 additional spider species were found for which male genital manipulation can be suspected. Interlocking genitalia provide an evolutionary platform for the rapid evolution of this highly effective mechanism to secure paternity, and we suspect that other animal groups with interlocking genital structures might reveal similarly drastic male adaptations. Copyright © 2015 Elsevier Ltd. All rights reserved.

Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance.

PubMed

Mammen, Cherry; Rupps, Rosemarie; Trnka, Peter; Boerkoel, Cornelius F

2012-02-01

We report a 5-year-old boy with thiazide-resistant Bartter syndrome. This is highly unusual since thiazide hypersensitivity is a common diagnostic finding in Bartter syndrome patients. Subsequent molecular testing identified compound heterozygosity for two novel mutations in KCNJ1, (c.556A > G and c.683G > A) which is associated with Bartter syndrome, and a paternally inherited polymorphism in SLC12A3 (c.791G > C). Mutations in SLC12A3 cause the thiazide-resistant tubulopathy Gitelman syndrome. Based on published studies of this polymorphism in SLC12A3 and the features of the proband's father, we postulate that this polymorphism modifies the phenotype of Bartter syndrome in the proband to thiazide resistance. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Influences of maternal and paternal PTSD on epigenetic regulation of the glucocorticoid receptor gene in Holocaust survivor offspring

PubMed Central

Desarnaud, Frank; Bader, Heather N.; Makotkine, Iouri; Flory, Janine D.; Bierer, Linda M.; Meaney, Michael J.

2014-01-01

Objective Differential effects of maternal and paternal PTSD have been observed in adult offspring of Holocaust survivors in both glucocorticoid receptor sensitivity and vulnerability to psychiatric disorder. The current study examined the relative influences of maternal and paternal PTSD on DNA methylation of the exon 1F promoter of the glucocorticoid receptor gene (NR3C1) in peripheral blood mononuclear cells (PBMCs), and its relationship to glucocorticoid receptor sensitivity, in Holocaust offspring. Method Adult offspring with at least one Holocaust survivor parent (n=80), and demographically similar participants without parental Holocaust exposure or PTSD (n=15) completed clinical interviews, self-report measures, and biological procedures. Blood samples were collected for analysis of glucocorticoid receptor gene exon 1F (GR-1F) promoter methylation and cortisol levels in response to low-dose dexamethasone, and two-way analysis of covariance was performed using maternal and paternal PTSD as main effects. Hierarchical-clustering analysis was used to permit visualization of maternal vs. paternal PTSD effects on clinical variables. Results A significant interaction demonstrated that in the absence of maternal PTSD, offspring with paternal PTSD showed higher GR-1F promoter methylation, whereas offspring with both maternal and paternal PTSD showed lower methylation. Lower GR-1F promoter methylation was significantly associated with greater post-dexamethasone cortisol suppression. The clustering analysis confirmed that maternal and paternal PTSD effects were differentially associated with clinical indicators. Conclusions This is the first study to demonstrate alterations of GR-1F promoter methylation in relation to parental PTSD and neuroendocrine outcomes. The moderation of paternal PTSD effects by maternal PTSD suggests different mechanisms for the intergenerational transmission of trauma-related vulnerabilities. PMID:24832930

Patterns and Predictors of Paternal Involvement in Early Adolescents’ Type 1 Diabetes Management Over 3 Years

PubMed Central

Rohan, Jennifer M.; Rausch, Joseph R.; Delamater, Alan; Pendley, Jennifer Shroff; Drotar, Dennis

2014-01-01

Objective To document trajectories of paternal involvement in diabetes management and examine bidirectional associations with diabetes outcomes across early adolescence. Methods 3-year prospective assessment of paternal involvement, diabetes self-management, and glycemic control among 136 youth (age 9–12 at baseline) and their mothers and fathers. Results Unconditional growth curves demonstrated decreasing amount (maternal report: F(1,128) = 14.79; paternal report: F(1,111) = 12.95, ps < 0.01) and level of contribution (maternal report: F(1,131) = 23.6, p < .01) of paternal involvement. Controlling for covariates, lower youth self-management predicted an increasing slope in fathers’ self-reported amount of involvement (b = −0.15 to −0.22, p < .05), and higher levels of fathers’ self-reported level of contribution predicted a decreasing slope in youths’ self-reported self-management (b = −0.01, p < .05). Conclusions Like mothers, fathers’ involvement declines modestly during early adolescence. Different aspects of paternal involvement influence or are influenced by youths’ self-management. Communication about ways to enhance fathers’ involvement before this transition may help prevent or reduce declining diabetes management and control common in adolescence. PMID:24013966

To eat or not to eat: egg-based assessment of paternity triggers fine-tuned decisions about filial cannibalism.

PubMed

Mehlis, Marion; Bakker, Theo C M; Engqvist, Leif; Frommen, Joachim G

2010-09-07

Filial cannibalism occurs in many animal species ranging from insects to mammals, and is especially well described in teleost fishes. Numerous causes may lead to this behaviour, e.g. certainty of paternity. However, the cues males use to assess their paternity often remain unknown. One possible way to differentiate between own and foreign offspring is by using egg cues. Nevertheless, in egg-laying species, evidence for this is still scarce. In this study, male three-spined sticklebacks (Gasterosteus aculeatus), a fish with paternal care in which sneaking as well as filial cannibalism is common, were allowed to care for manipulated nests that contained different percentages of own fertilized eggs. After 7 days, embryo survival was determined. Furthermore, brood-caring as well as aggressive behaviour was measured daily. Clutches containing a higher proportion of foreign eggs were more likely to be completely cannibalized than clutches containing a lower proportion of foreign eggs, particularly when the clutch was laid early in the breeding season. However, the behavioural observations revealed no influence of paternity. The results show that paternity triggers filial cannibalism in sticklebacks and that males are able to evaluate their paternity using egg cues alone.

To eat or not to eat: egg-based assessment of paternity triggers fine-tuned decisions about filial cannibalism

PubMed Central

Mehlis, Marion; Bakker, Theo C. M.; Engqvist, Leif; Frommen, Joachim G.

2010-01-01

Filial cannibalism occurs in many animal species ranging from insects to mammals, and is especially well described in teleost fishes. Numerous causes may lead to this behaviour, e.g. certainty of paternity. However, the cues males use to assess their paternity often remain unknown. One possible way to differentiate between own and foreign offspring is by using egg cues. Nevertheless, in egg-laying species, evidence for this is still scarce. In this study, male three-spined sticklebacks (Gasterosteus aculeatus), a fish with paternal care in which sneaking as well as filial cannibalism is common, were allowed to care for manipulated nests that contained different percentages of own fertilized eggs. After 7 days, embryo survival was determined. Furthermore, brood-caring as well as aggressive behaviour was measured daily. Clutches containing a higher proportion of foreign eggs were more likely to be completely cannibalized than clutches containing a lower proportion of foreign eggs, particularly when the clutch was laid early in the breeding season. However, the behavioural observations revealed no influence of paternity. The results show that paternity triggers filial cannibalism in sticklebacks and that males are able to evaluate their paternity using egg cues alone. PMID:20410042

Paternal psychosocial work conditions and mental health outcomes: A case-control study

PubMed Central

Maggi, Stefania; Ostry, Aleck; Tansey, James; Dunn, James; Hershler, Ruth; Chen, Lisa; Hertzman, Clyde

2008-01-01

Background The role of social and family environments in the development of mental health problems among children and youth has been widely investigated. However, the degree to which parental working conditions may impact on developmental psychopathology has not been thoroughly studied. Methods We conducted a case-control study of several mental health outcomes of 19,833 children of sawmill workers and their association with parental work stress, parental socio-demographic characteristics, and paternal mental health. Results Multivariate analysis conducted with four distinct age groups (children, adolescents, young adults, and adults) revealed that anxiety based and depressive disorders were associated with paternal work stress in all age groups and that work stress was more strongly associated with alcohol and drug related disorders in adulthood than it was in adolescence and young adulthood. Conclusion This study provides support to the tenet that being exposed to paternal work stress during childhood can have long lasting effects on the mental health of individuals. PMID:18377651

Paternal psychosocial work conditions and mental health outcomes: a case-control study.

PubMed

Maggi, Stefania; Ostry, Aleck; Tansey, James; Dunn, James; Hershler, Ruth; Chen, Lisa; Hertzman, Clyde

2008-03-31

The role of social and family environments in the development of mental health problems among children and youth has been widely investigated. However, the degree to which parental working conditions may impact on developmental psychopathology has not been thoroughly studied. We conducted a case-control study of several mental health outcomes of 19,833 children of sawmill workers and their association with parental work stress, parental socio-demographic characteristics, and paternal mental health. Multivariate analysis conducted with four distinct age groups (children, adolescents, young adults, and adults) revealed that anxiety based and depressive disorders were associated with paternal work stress in all age groups and that work stress was more strongly associated with alcohol and drug related disorders in adulthood than it was in adolescence and young adulthood. This study provides support to the tenet that being exposed to paternal work stress during childhood can have long lasting effects on the mental health of individuals.

Canine Paternity Testing--Using Personal Experiences To Teach Science.

ERIC Educational Resources Information Center

Rascati, Ralph J.

2002-01-01

Outlines how an example from the field of animal husbandry is used in a DNA Technology course to motivate students to take a deeper interest in the material. Focuses on paternity testing in dogs. (DDR)

Preconception maternal and paternal exposure to persistent organic pollutants and birth size: the LIFE study.

PubMed

Robledo, Candace A; Yeung, Edwina; Mendola, Pauline; Sundaram, Rajeshwari; Maisog, Jose; Sweeney, Anne M; Barr, Dana Boyd; Louis, Germaine M Buck

2015-01-01

Persistent organic pollutants (POPs) are developmental toxicants, but the impact of both maternal and paternal exposures on offspring birth size is largely unexplored. We examined associations between maternal and paternal serum concentrations of 63 POPs, comprising five major classes of pollutants, with birth size measures. Parental serum concentrations of 9 organochlorine pesticides, 1 polybrominated biphenyl (PBB), 7 perfluoroalkyl chemicals (PFCs), 10 polybrominated diphenyl ethers (PBDEs), and 36 polychlorinated biphenyls (PCBs) were measured before conception for 234 couples. Differences in birth weight, length, head circumference, and ponderal index were estimated using multiple linear regression per 1-SD increase in natural log-transformed (ln-transformed) chemicals. Models were estimated separately for each parent and adjusted for maternal age, maternal prepregnancy body mass index (kilograms per meter squared) and other confounders, and all models included an interaction term between infant sex and each chemical. Among girls (n = 117), birth weight was significantly lower (range, 84-195 g) in association with a 1-SD increase in ln-transformed maternal serum concentrations of DDT, PBDE congeners 28 and 183, and paternal serum concentrations of PBDE-183 and PCB-167. Among boys (n = 113), maternal (PCBs 138, 153, 167, 170, 195, and 209 and perfluorooctane sulfonamide) and paternal (PCBs 172 and 195) serum concentrations of several POPs were statistically associated with lower birth weight (range, 98-170 g), whereas paternal concentrations of PBDEs (66, 99) were associated with higher birth weight. Differences in offspring head circumference, length, and ponderal index were also associated with parental exposures. Preconceptional maternal and paternal concentrations of several POPs were associated with statistically significant differences in birth size among offspring.

Paternity testing in case of brother-sister incest.

PubMed

Macan, Marijana; Uvodić, Petra; Botica, Vladimir

2003-06-01

We performed a paternity test in a case of incest between brother and sister. DNA from blood samples of the alleged parents and their two children was obtained with Chelex DNA extraction method and quantified with Applied Biosystems QuantiBlot quantitation kit. Polymerase chain reaction (PCR) amplification of DNA samples was performed with AmpFlSTR SGM Plus PCR amplification kit and GenePrint PowerPlex PCR amplification kit. The amplified products were separated and detected by using the Perkin Elmer's ABI PRISM trade mark 310 Genetic Analyser. DNA and data analysis of 17 loci and Amelogenin confirmed the suspicion of brother-sister incest. Since both children had inherited all of the obligate alleles from the alleged father, we could confirm with certainty of 99.999999% that the oldest brother in the family was the biological father of both children. Calculated data showed that even in a case of brother-sister incest, paternity could be proved by the analysis of Amelogenin and 17 DNA loci.

Pollen flow in the wildservice tree, Sorbus torminalis (L.) Crantz. I. Evaluating the paternity analysis procedure in continuous populations.

PubMed

Oddou-Muratorio, S; Houot, M-L; Demesure-Musch, B; Austerlitz, F

2003-12-01

The joint development of polymorphic molecular markers and paternity analysis methods provides new approaches to investigate ongoing patterns of pollen flow in natural plant populations. However, paternity studies are hindered by false paternity assignment and the nondetection of true fathers. To gauge the risk of these two types of errors, we performed a simulation study to investigate the impact on paternity analysis of: (i) the assumed values for the size of the breeding male population (NBMP), and (ii) the rate of scoring error in genotype assessment. Our simulations were based on microsatellite data obtained from a natural population of the entomophilous wild service tree, Sorbus torminalis (L.) Crantz. We show that an accurate estimate of NBMP is required to minimize both types of errors, and we assess the reliability of a technique used to estimate NBMP based on parent-offspring genetic data. We then show that scoring errors in genotype assessment only slightly affect the assessment of paternity relationships, and conclude that it is generally better to neglect the scoring error rate in paternity analyses within a nonisolated population.

Paternal deprivation alters play-fighting, serum corticosterone and the expression of hypothalamic vasopressin and oxytocin in juvenile male mandarin voles.

PubMed

Wang, Jianli; Tai, Fadao; Yan, Xingfu; Yu, Peng

2012-11-01

Although early paternal deprivation significantly affects offspring behavioral and neuroendocrine development, the link between paternal deprivation and social play behavior remains unclear. Mandarin voles (Microtus mandarinus) are socially monogamous and display bi-paternal care. The present study examined the development of social play in juvenile male mandarin voles and the paternal influence on play-fighting, vasopressin- and oxytocin-immunoreactive neurons and serum corticosterone and testosterone levels. The results show that social play was more pronounced during postnatal days 28-35, differing from the ontogenetic pattern of other forms of social behavior. On postnatal day 35, the peak in play-fighting activity, paternal deprivation reduced boxing/wrestling levels and vasopressin-immunoreactive neurons in the anterior hypothalamus and oxytocin-immunoreactive neurons in the paraventricular nucleus, but increased vasopressin-immunoreactive neurons in the paraventricular nucleus and corticosterone levels. These results suggest that mandarin voles engage in social play according to an inverted U-shaped curve in ontogeny, and paternal deprivation influences the development of offspring play-fighting; hypothalamic vasopressin, oxytocin and serum corticosterone may play a modulatory role in the alteration of play-fighting elicited by paternal deprivation; decreased play-fighting may correlate with depressed vasopressin levels in the anterior hypothalamus.

Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.

PubMed

Brant, Jason O; Riva, Alberto; Resnick, James L; Yang, Thomas P

2014-11-01

Reduced representation bisulfite sequencing (RRBS) was used to analyze DNA methylation patterns across the mouse brain genome in mice carrying a deletion of the Prader-Willi syndrome imprinting center (PWS-IC) on either the maternally- or paternally-inherited chromosome. Within the ~3.7 Mb imprinted Angelman/Prader-Willi syndrome (AS/PWS) domain, 254 CpG sites were interrogated for changes in methylation due to PWS-IC deletion. Paternally-inherited deletion of the PWS-IC increased methylation levels ~2-fold at each CpG site (compared to wild-type controls) at differentially methylated regions (DMRs) associated with 5' CpG island promoters of paternally-expressed genes; these methylation changes extended, to a variable degree, into the adjacent CpG island shores. Maternal PWS-IC deletion yielded little or no changes in methylation at these DMRs, and methylation of CpG sites outside of promoter DMRs also was unchanged upon maternal or paternal PWS-IC deletion. Using stringent ascertainment criteria, ~750,000 additional CpG sites were also interrogated across the entire mouse genome. This analysis identified 26 loci outside of the imprinted AS/PWS domain showing altered DNA methylation levels of ≥25% upon PWS-IC deletion. Curiously, altered methylation at 9 of these loci was a consequence of maternal PWS-IC deletion (maternal PWS-IC deletion by itself is not known to be associated with a phenotype in either humans or mice), and 10 of these loci exhibited the same changes in methylation irrespective of the parental origin of the PWS-IC deletion. These results suggest that the PWS-IC may affect DNA methylation at these loci by directly interacting with them, or may affect methylation at these loci through indirect downstream effects due to PWS-IC deletion. They further suggest the PWS-IC may have a previously uncharacterized function outside of the imprinted AS/PWS domain.

Maternal and Paternal Parenting Styles in Adolescents: Associations with Self-Esteem, Depression and Life-Satisfaction

ERIC Educational Resources Information Center

Milevsky, Avidan; Schlechter, Melissa; Netter, Sarah; Keehn, Danielle

2007-01-01

Our study examined variations in adolescent adjustment as a function of maternal and paternal parenting styles. Participants included 272 students in grades 9 and 11 from a public high school in a metropolitan area of the Northeastern US. Participants completed measures of maternal and paternal parenting styles and indices of psychological…

Relationships of maternal and paternal anthropometry with neonatal body size, proportions and adiposity in an Australian cohort.

PubMed

Pomeroy, Emma; Wells, Jonathan C K; Cole, Tim J; O'Callaghan, Michael; Stock, Jay T

2015-04-01

The patterns of association between maternal or paternal and neonatal phenotype may offer insight into how neonatal characteristics are shaped by evolutionary processes, such as conflicting parental interests in fetal investment and obstetric constraints. Paternal interests are theoretically served by maximizing fetal growth, and maternal interests by managing investment in current and future offspring, but whether paternal and maternal influences act on different components of overall size is unknown. We tested whether parents' prepregnancy height and body mass index (BMI) were related to neonatal anthropometry (birthweight, head circumference, absolute and proportional limb segment and trunk lengths, subcutaneous fat) among 1,041 Australian neonates using stepwise linear regression. Maternal and paternal height and maternal BMI were associated with birthweight. Paternal height related to offspring forearm and lower leg lengths, maternal height and BMI to neonatal head circumference, and maternal BMI to offspring adiposity. Principal components analysis identified three components of variability reflecting neonatal "head and trunk skeletal size," "adiposity," and "limb lengths." Regression analyses of the component scores supported the associations of head and trunk size or adiposity with maternal anthropometry, and limb lengths with paternal anthropometry. Our results suggest that while neonatal fatness reflects environmental conditions (maternal physiology), head circumference and limb and trunk lengths show differing associations with parental anthropometry. These patterns may reflect genetics, parental imprinting and environmental influences in a manner consistent with parental conflicts of interest. Paternal height may relate to neonatal limb length as a means of increasing fetal growth without exacerbating the risk of obstetric complications. © 2014 The Authors American Journal of Physical Anthropology Published by Wiley Periodicals, Inc.

Relationships of maternal and paternal anthropometry with neonatal body size, proportions and adiposity in an Australian cohort

PubMed Central

Pomeroy, Emma; Wells, Jonathan CK; Cole, Tim J; O'Callaghan, Michael; Stock, Jay T

2015-01-01

The patterns of association between maternal or paternal and neonatal phenotype may offer insight into how neonatal characteristics are shaped by evolutionary processes, such as conflicting parental interests in fetal investment and obstetric constraints. Paternal interests are theoretically served by maximizing fetal growth, and maternal interests by managing investment in current and future offspring, but whether paternal and maternal influences act on different components of overall size is unknown. We tested whether parents' prepregnancy height and body mass index (BMI) were related to neonatal anthropometry (birthweight, head circumference, absolute and proportional limb segment and trunk lengths, subcutaneous fat) among 1,041 Australian neonates using stepwise linear regression. Maternal and paternal height and maternal BMI were associated with birthweight. Paternal height related to offspring forearm and lower leg lengths, maternal height and BMI to neonatal head circumference, and maternal BMI to offspring adiposity. Principal components analysis identified three components of variability reflecting neonatal “head and trunk skeletal size,” “adiposity,” and “limb lengths.” Regression analyses of the component scores supported the associations of head and trunk size or adiposity with maternal anthropometry, and limb lengths with paternal anthropometry. Our results suggest that while neonatal fatness reflects environmental conditions (maternal physiology), head circumference and limb and trunk lengths show differing associations with parental anthropometry. These patterns may reflect genetics, parental imprinting and environmental influences in a manner consistent with parental conflicts of interest. Paternal height may relate to neonatal limb length as a means of increasing fetal growth without exacerbating the risk of obstetric complications. Am J Phys Anthropol 156:625–636, 2015. PMID:25502164

Influences of maternal and paternal PTSD on epigenetic regulation of the glucocorticoid receptor gene in Holocaust survivor offspring.

PubMed

Yehuda, Rachel; Daskalakis, Nikolaos P; Lehrner, Amy; Desarnaud, Frank; Bader, Heather N; Makotkine, Iouri; Flory, Janine D; Bierer, Linda M; Meaney, Michael J

2014-08-01

Differential effects of maternal and paternal posttraumatic stress disorder (PTSD) have been observed in adult offspring of Holocaust survivors in both glucocorticoid receptor sensitivity and vulnerability to psychiatric disorder. The authors examined the relative influences of maternal and paternal PTSD on DNA methylation of the exon 1F promoter of the glucocorticoid receptor (GR-1F) gene (NR3C1) in peripheral blood mononuclear cells and its relationship to glucocorticoid receptor sensitivity in Holocaust offspring. Adult offspring with at least one Holocaust survivor parent (N=80) and demographically similar participants without parental Holocaust exposure or parental PTSD (N=15) completed clinical interviews, self-report measures, and biological procedures. Blood samples were collected for analysis of GR-1F promoter methylation and of cortisol levels in response to low-dose dexamethasone, and two-way analysis of covariance was performed using maternal and paternal PTSD as main effects. Hierarchical clustering analysis was used to permit visualization of maternal compared with paternal PTSD effects on clinical variables and GR-1F promoter methylation. A significant interaction demonstrated that in the absence of maternal PTSD, offspring with paternal PTSD showed higher GR-1F promoter methylation, whereas offspring with both maternal and paternal PTSD showed lower methylation. Lower GR-1F promoter methylation was significantly associated with greater postdexamethasone cortisol suppression. The clustering analysis revealed that maternal and paternal PTSD effects were differentially associated with clinical indicators and GR-1F promoter methylation. This is the first study to demonstrate alterations of GR-1F promoter methylation in relation to parental PTSD and neuroendocrine outcomes. The moderation of paternal PTSD effects by maternal PTSD suggests different mechanisms for the intergenerational transmission of trauma-related vulnerabilities.

Maximum number of children per sperm donor based on false paternity rate.

PubMed

Sánchez-Castelló, Isabel M; Gonzalvo, María C; Clavero, Ana; López-Regalado, María L; Mozas, Juan; Martínez-Granados, Luis; Navas, Purificación; Castilla, José A

2017-03-01

The aim of this study is to estimate the weight of each relevant factor in such unions of inadvertent consanguinity and to determine a "reasonable" limit for the number of children per donor, matching the probability of inadvertent consanguinity arising from the use of sperm donor in assisted reproduction with that of such a union arising from false paternity. In this study, we applied to Spanish data a mathematical model of consanguineous unions, taking into account the following factors: maximum number of live births/donor, fertility rate, average number of births per donor in a pregnancy, donor success rate, matings per phenotype, number of newborns/year, and number of donors needed in the population/year and births by false paternity. In Spain, the number of inadvertent unions between descendants of the same donor in Spain has been estimated at 0.4/year (one every two and a half years), although this frequency decreases as the reference population increases. On the other hand, the frequency of unions between family members due to false paternity has been estimated at 6.1/year. Thus, only 6% of such unions are due to the use of donor sperm. A total of 25 children per sperm donor are needed to align the probability of inadvertant consanguinity arising from the use of assisted reproduction with that due to false paternity. Therefore, we consider this number to be the maximum "reasonable" number of children born per donor in Spain.

Chromosomal mosaicism in mouse two-cell embryos after paternal exposure to acrylamide

DOE Office of Scientific and Technical Information (OSTI.GOV)

Marchetti, Francesco; Bishop, Jack; Lowe, Xiu

2008-10-14

Chromosomal mosaicism in human preimplantation embryos is a common cause ofspontaneous abortions, however, our knowledge of its etiology is limited. We used multicolor fluorescence in situ hybridization (FISH) painting to investigate whether paternally-transmitted chromosomal aberrations result in mosaicism in mouse 2-cell embryos. Paternal exposure to acrylamide, an important industrial chemical also found in tobacco smoke and generated during the cooking process of starchy foods, produced significant increases in chromosomally defective 2-cell embryos, however, the effects were transient primarily affecting the postmeiotic stages of spermatogenesis. Comparisons with our previous study of zygotes demonstrated similar frequencies of chromosomally abnormal zygotes and 2-cellmore » embryos suggesting that there was no apparent selection against numerical or structural chromosomal aberrations. However, the majority of affected 2-cell embryos were mosaics showing different chromosomal abnormalities in the two blastomeric metaphases. Analyses of chromosomal aberrations in zygotes and 2-cell embryos showed a tendency for loss of acentric fragments during the first mitotic division ofembryogenesis, while both dicentrics and translocations apparently underwent propersegregation. These results suggest that embryonic development can proceed up to the end of the second cell cycle of development in the presence of abnormal paternal chromosomes and that even dicentrics can persist through cell division. The high incidence of chromosomally mosaic 2-cell embryos suggests that the first mitotic division of embryogenesis is prone to missegregation errors and that paternally-transmitted chromosomal abnromalities increase the risk of missegregation leading to embryonic mosaicism.« less

Spousal violence and paternal disinvestment among Tsimane' forager-horticulturalists.

PubMed

Stieglitz, Jonathan; Kaplan, Hillard; Gurven, Michael; Winking, Jeffrey; Tayo, Basilio Vie

2011-01-01

We develop and test a conceptual model of factors influencing the likelihood of physical wife abuse. The paternal disinvestment model emphasizes that spousal conflict over resource use results from men's attempts to increase individual fitness at a cost to the family (e.g., through pursuit of extramarital affairs). We propose that men use violence to control women's responses to the diversion of resources away from the family: to quell women's objections to male disinvestment, maintain women's parental investment, and to dissuade women from pursuing relationships with other men. Interviews were conducted among men and women to determine rates of violence and demographic and behavioral covariates. Structural equation modeling and generalized estimating equations analyses were used to test predictions derived from the model. We also collected data on frequent complaints in marriage and women's perceptions of arguments precipitating violence. Over 85% of women experienced physical wife abuse (n = 49). Indicators of paternal disinvestment positively covary with indicators of marital strife and with rates of wife abuse. The wife's age, matrilocal residence, and presence of joint dependent offspring decrease the likelihood of violence through direct and indirect routes. Wife abuse is linked to the importance of paternal investment in human families, and is a means by which men control women's responses to a dual reproductive strategy of familial investment and pursuit of extramarital sexual relationships. This framework is more general than traditional sociological and evolutionary perspectives emphasizing patriarchy and men's sexual jealousy, respectively. Copyright © 2011 Wiley-Liss, Inc.

Child gender influences paternal behavior, language, and brain function

PubMed Central

Mascaro, Jennifer S.; Rentscher, Kelly E.; Hackett, Patrick D.; Mehl, Matthias R.; Rilling, James K.

2017-01-01

Multiple lines of research indicate that fathers often treat boys and girls differently in ways that impact child outcomes. The complex picture that has emerged, however, is obscured by methodological challenges inherent to the study of parental caregiving, and no studies to date have examined the possibility that gender differences in observed real-world paternal behavior are related to differential paternal brain responses to male and female children. Here we compare fathers of daughters and fathers of sons in terms of naturalistically observed everyday caregiving behavior and neural responses to child picture stimuli. Compared to fathers of sons, fathers of daughters were more attentively engaged with their daughters, sang more to their daughters, used more analytical language and language related to sadness and the body with their daughters, and had a stronger neural response to their daughter’s happy facial expressions in areas of the brain important for reward and emotion regulation (medial and lateral orbitofrontal cortex [OFC]). In contrast, fathers of sons engaged in more rough and tumble play (RTP), used more achievement language with their sons, and had a stronger neural response to their son’s neutral facial expressions in the medial OFC (mOFC). Whereas the mOFC response to happy faces was negatively related to RTP, the mOFC response to neutral faces was positively related to RTP, specifically for fathers of boys. These results indicate that real world paternal behavior and brain function differ as a function of child gender. PMID:28541079

Paternal education status significantly influences infants' measles vaccination uptake, independent of maternal education status.

PubMed

Rammohan, Anu; Awofeso, Niyi; Fernandez, Renae C

2012-05-08

Despite increased funding of measles vaccination programs by national governments and international aid agencies, structural factors encumber attainment of childhood measles immunisation to levels which may guarantee herd immunity. One of such factors is parental education status. Research on the links between parental education and vaccination has typically focused on the influence of maternal education status. This study aims to demonstrate the independent influence of paternal education status on measles immunisation. Comparable nationally representative survey data were obtained from six countries with the highest numbers of children missing the measles vaccine in 2008. Logistic regression analysis was applied to examine the influence of paternal education on uptake of the first dose of measles vaccination, independent of maternal education, whilst controlling for confounding factors such as respondent's age, urban/rural residence, province/state of residence, religion, wealth and occupation. The results of the analysis show that even if a mother is illiterate, having a father with an education of Secondary (high school) schooling and above is statistically significant and positively correlated with the likelihood of a child being vaccinated for measles, in the six countries analysed. Paternal education of secondary or higher level was significantly and independently correlated with measles immunisation uptake after controlling for all potential confounders. The influence of paternal education status on measles immunisation uptake was investigated and found to be statistically significant in six nations with the biggest gaps in measles immunisation coverage in 2008. This study underscores the imperative of utilising both maternal and paternal education as screening variables to identify children at risk of missing measles vaccination prospectively.

Dnmt2 mediates intergenerational transmission of paternally acquired metabolic disorders through sperm small non-coding RNAs.

PubMed

Zhang, Yunfang; Zhang, Xudong; Shi, Junchao; Tuorto, Francesca; Li, Xin; Liu, Yusheng; Liebers, Reinhard; Zhang, Liwen; Qu, Yongcun; Qian, Jingjing; Pahima, Maya; Liu, Ying; Yan, Menghong; Cao, Zhonghong; Lei, Xiaohua; Cao, Yujing; Peng, Hongying; Liu, Shichao; Wang, Yue; Zheng, Huili; Woolsey, Rebekah; Quilici, David; Zhai, Qiwei; Li, Lei; Zhou, Tong; Yan, Wei; Lyko, Frank; Zhang, Ying; Zhou, Qi; Duan, Enkui; Chen, Qi

2018-05-01

The discovery of RNAs (for example, messenger RNAs, non-coding RNAs) in sperm has opened the possibility that sperm may function by delivering additional paternal information aside from solely providing the DNA 1 . Increasing evidence now suggests that sperm small non-coding RNAs (sncRNAs) can mediate intergenerational transmission of paternally acquired phenotypes, including mental stress 2,3 and metabolic disorders 4-6 . How sperm sncRNAs encode paternal information remains unclear, but the mechanism may involve RNA modifications. Here we show that deletion of a mouse tRNA methyltransferase, DNMT2, abolished sperm sncRNA-mediated transmission of high-fat-diet-induced metabolic disorders to offspring. Dnmt2 deletion prevented the elevation of RNA modifications (m 5 C, m 2 G) in sperm 30-40 nt RNA fractions that are induced by a high-fat diet. Also, Dnmt2 deletion altered the sperm small RNA expression profile, including levels of tRNA-derived small RNAs and rRNA-derived small RNAs, which might be essential in composing a sperm RNA 'coding signature' that is needed for paternal epigenetic memory. Finally, we show that Dnmt2-mediated m 5 C contributes to the secondary structure and biological properties of sncRNAs, implicating sperm RNA modifications as an additional layer of paternal hereditary information.

Current Issues in Maternal and Paternal Deprivation. Unit for Child Studies Selected Papers Number 6.

ERIC Educational Resources Information Center

Phillips, Shelley

An overview of some major current issues in maternal and paternal deprivation is presented. Parts I and II focus on (1) single parents and issues in paternal deprivation and (2) sex stereotyping and issues in maternal deprivation, respectively. More particularly, Part I discusses the effects of divorce and death on children and the problem of…

Paternity analysis reveals wide pollen dispersal and high multiple paternity in a small isolated population of the bird-pollinated Eucalyptus caesia (Myrtaceae).

PubMed

Bezemer, N; Krauss, S L; Phillips, R D; Roberts, D G; Hopper, S D

2016-12-01

Optimal foraging behaviour by nectavores is expected to result in a leptokurtic pollen dispersal distribution and predominantly near-neighbour mating. However, complex social interactions among nectarivorous birds may result in different mating patterns to those typically observed in insect-pollinated plants. Mating system, realised pollen dispersal and spatial genetic structure were examined in the bird-pollinated Eucalyptus caesia, a species characterised by small, geographically disjunct populations. Nine microsatellite markers were used to genotype an entire adult stand and 181 seeds from 28 capsules collected from 6 trees. Mating system analysis using MLTR revealed moderate to high outcrossing (t m =0.479-0.806) and low estimates of correlated paternity (r p =0.136±s.e. 0.048). Paternity analysis revealed high outcrossing rates (mean=0.72) and high multiple paternity, with 64 different sires identified for 181 seeds. There was a significant negative relationship between the frequency of outcross mating and distance between mating pairs. Realised mating events were more frequent than expected with random mating for plants <40 m apart. The overall distribution of pollen dispersal distances was platykurtic. Despite extensive pollen dispersal within the stand, three genetic clusters were detected by STRUCTURE analysis. These genetic clusters were strongly differentiated yet geographically interspersed, hypothesised to be a consequence of rare recruitment events coupled with extreme longevity. We suggest that extensive polyandry and pollen dispersal is a consequence of pollination by highly mobile honeyeaters and may buffer E. caesia against the loss of genetic diversity predicted for small and genetically isolated populations.

Paternity analysis reveals wide pollen dispersal and high multiple paternity in a small isolated population of the bird-pollinated Eucalyptus caesia (Myrtaceae)

PubMed Central

Bezemer, N; Krauss, S L; Phillips, R D; Roberts, D G; Hopper, S D

2016-01-01

Optimal foraging behaviour by nectavores is expected to result in a leptokurtic pollen dispersal distribution and predominantly near-neighbour mating. However, complex social interactions among nectarivorous birds may result in different mating patterns to those typically observed in insect-pollinated plants. Mating system, realised pollen dispersal and spatial genetic structure were examined in the bird-pollinated Eucalyptus caesia, a species characterised by small, geographically disjunct populations. Nine microsatellite markers were used to genotype an entire adult stand and 181 seeds from 28 capsules collected from 6 trees. Mating system analysis using MLTR revealed moderate to high outcrossing (tm=0.479–0.806) and low estimates of correlated paternity (rp=0.136±s.e. 0.048). Paternity analysis revealed high outcrossing rates (mean=0.72) and high multiple paternity, with 64 different sires identified for 181 seeds. There was a significant negative relationship between the frequency of outcross mating and distance between mating pairs. Realised mating events were more frequent than expected with random mating for plants <40 m apart. The overall distribution of pollen dispersal distances was platykurtic. Despite extensive pollen dispersal within the stand, three genetic clusters were detected by STRUCTURE analysis. These genetic clusters were strongly differentiated yet geographically interspersed, hypothesised to be a consequence of rare recruitment events coupled with extreme longevity. We suggest that extensive polyandry and pollen dispersal is a consequence of pollination by highly mobile honeyeaters and may buffer E. caesia against the loss of genetic diversity predicted for small and genetically isolated populations. PMID:27530908

[Paternal exposure to occupational electromagnetic radiation and sex ratio of the offspring: a meta-analysis].

PubMed

Tong, Shu-Hui; Liu, Yi-Ting; Liu, Yang

2013-02-01

To investigate the association between paternal exposure to occupational electromagnetic radiation and the sex ratio of the offspring. We searched various databases, including PubMed, Embase, Cochrane Library, OVID, Bioscience Information Service (BIOSIS), China National Knowledge Infrastructure, VIP Database for Chinese Technical Periodicals and Wanfang Database, for the literature relevant to the association of paternal exposure to occupational electromagnetic radiation with the sex ratio of the offspring. We conducted a meta-analysis on their correlation using Stata 11.0. There was no statistically significant difference in the sex ratio between the offspring with paternal exposure to occupational electromagnetic radiation and those without (pooled OR = 1.00 [95% CI: 0.95 -1.05], P = 0.875). Subgroup analysis of both case-control and cohort studies revealed no significant difference (pooled OR = 1.03 [95% CI: 0.99 -1.08], P = 0.104 and pooled OR = 0.98 [95% CI: 0.99 -1.08], P = 0.186, respectively). Paternal exposure to occupational electromagnetic radiation is not correlated with the sex ratio of the offspring.

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.

PubMed

Angulo, M A; Butler, M G; Cataletto, M E

2015-12-01

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion (65-75 % of cases), maternal uniparental disomy 15 (20-30 % of cases), and imprinting defect (1-3 %). DNA methylation analysis is the only technique that will diagnose PWS in all three molecular genetic classes and differentiate PWS from Angelman syndrome. Clinical manifestations change with age with hypotonia and a poor suck resulting in failure to thrive during infancy. As the individual ages, other features such as short stature, food seeking with excessive weight gain, developmental delay, cognitive disability and behavioral problems become evident. The phenotype is likely due to hypothalamic dysfunction, which is responsible for hyperphagia, temperature instability, high pain threshold, hypersomnia and multiple endocrine abnormalities including growth hormone and thyroid-stimulating hormone deficiencies, hypogonadism and central adrenal insufficiency. Obesity and its complications are the major causes of morbidity and mortality in PWS. An extensive review of the literature was performed and interpreted within the context of clinical practice and frequently asked questions from referring physicians and families to include the current status of the cause and diagnosis of the clinical, genetics and endocrine findings in PWS. Updated information regarding the early diagnosis and management of individuals with Prader-Willi syndrome is important for all physicians and will be helpful in anticipating and managing or modifying complications associated with this rare obesity-related disorder.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

PubMed

Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A

2018-06-11

A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for X-linked or recessive mode of inheritance. Up to now, the underlying genetic basis of RHYNS syndrome remains unknown. Here we applied whole-exome sequencing in the originally described family with RHYNS to identify compound heterozygous variants in the ciliary gene TMEM67. Sanger sequencing confirmed a paternally inherited nonsense c.622A > T, p.(Arg208*) and a maternally inherited missense variant c.1289A > G, p.(Asp430Gly), which perturbs the correct splicing of exon 13. Overall, TMEM67 showed one of the widest clinical continuum observed in ciliopathies ranging from early lethality to adults with liver fibrosis. Our findings extend the spectrum of phenotypes/syndromes resulting from biallelic TMEM67 variants to now eight distinguishable clinical conditions including RHYNS syndrome.

Cancer, obesity, and legitimation of suggested lifestyles: a libertarian paternalism approach

PubMed Central

Boniolo, Giovanni; Rebba, Vincenzo

2015-01-01

We know that around 30% of all cancers are preventable. We also know that there is clear evidence of the causal relations between obesity and cancer. This means that there could be lifestyles that could prevent obesity and, thus, cancer. Yet, who legitimises these lifestyles and on which ground? Should citizens be free to accept or not to accept policies concerning them? This is a problem faced within what has been named libertarian paternalism. We discuss it, also proposing a version that we call deliberative libertarian paternalism, showing how important this problem is for a proper framing of the lifestyle policies concerning obesity and, thus, cancer prevention. PMID:26557886

Cancer, obesity, and legitimation of suggested lifestyles: a libertarian paternalism approach.

PubMed

Boniolo, Giovanni; Rebba, Vincenzo

2015-01-01

We know that around 30% of all cancers are preventable. We also know that there is clear evidence of the causal relations between obesity and cancer. This means that there could be lifestyles that could prevent obesity and, thus, cancer. Yet, who legitimises these lifestyles and on which ground? Should citizens be free to accept or not to accept policies concerning them? This is a problem faced within what has been named libertarian paternalism. We discuss it, also proposing a version that we call deliberative libertarian paternalism, showing how important this problem is for a proper framing of the lifestyle policies concerning obesity and, thus, cancer prevention.

Paternal inheritance of plastid-encoded transgenes in Petunia hybrida in the greenhouse and under field conditions.

PubMed

Horn, Patricia; Nausch, Henrik; Baars, Susanne; Schmidtke, Jörg; Schmidt, Kerstin; Schneider, Anja; Leister, Dario; Broer, Inge

2017-12-01

As already demonstrated in greenhouse trials, outcrossing of transgenic plants can be drastically reduced via transgene integration into the plastid. We verified this result in the field with Petunia , for which the highest paternal leakage has been observed. The variety white 115 (W115) served as recipient and Pink Wave (PW) and the transplastomic variant PW T16, encoding the uid A reporter gene, as pollen donor. While manual pollination in the greenhouse led to over 90% hybrids for both crossings, the transgenic donor resulted only in 2% hybrids in the field. Nevertheless paternal leakage was detected in one case which proves that paternal inheritance of plastid-located transgenes is possible under artificial conditions. In the greenhouse, paternal leakage occurred in a frequency comparable to published results. As expected natural pollination reduced the hybrid formation in the field from 90 to 7.6% and the transgenic donor did not result in any hybrid.

The association between perceived maternal and paternal psychopathology and depression and anxiety symptoms in adolescent girls

PubMed Central

Rasing, Sanne P. A.; Creemers, Daan H. M.; Janssens, Jan M. A. M.; Scholte, Ron H. J.

2015-01-01

Exposure to parental depression and anxiety is known to heighten the risk of internalizing symptoms and disorders in children and adolescents. Ample research has focused on the influence of maternal depression and anxiety, but the contribution of psychopathology in fathers remains unclear. We studied the relationships of perceived maternal and paternal psychopathology with adolescents’ depression and anxiety symptoms in a general population sample of 862 adolescent girls (age M = 12.39, SD = 0.79). Assessments included adolescents’ self-reports of their own depression and anxiety as well as their reports of maternal and paternal psychopathology. We found that perceived maternal and paternal psychopathology were both related to depression and anxiety symptoms in adolescent girls. A combination of higher maternal and paternal psychopathology was related to even higher levels of depression and anxiety in adolescent girls. Our findings showed that adolescents’ perceptions of their parents’ psychopathology are significantly related to their own emotional problems. PMID:26257664

Maternal KIR in combination with paternal HLA-C2 regulate human birth weight.

PubMed

Hiby, Susan E; Apps, Richard; Chazara, Olympe; Farrell, Lydia E; Magnus, Per; Trogstad, Lill; Gjessing, Håkon K; Carrington, Mary; Moffett, Ashley

2014-06-01

Human birth weight is subject to stabilizing selection; babies born too small or too large are less likely to survive. Particular combinations of maternal/fetal immune system genes are associated with pregnancies where the babies are ≤ 5th birth weight centile, specifically an inhibitory maternal KIR AA genotype with a paternally derived fetal HLA-C2 ligand. We have now analyzed maternal KIR and fetal HLA-C combinations at the opposite end of the birth weight spectrum. Mother/baby pairs (n = 1316) were genotyped for maternal KIR as well as fetal and maternal HLA-C. Presence of a maternal-activating KIR2DS1 gene was associated with increased birth weight in linear or logistic regression analyses of all pregnancies >5th centile (p = 0.005, n = 1316). Effect of KIR2DS1 was most significant in pregnancies where its ligand, HLA-C2, was paternally but not maternally inherited by a fetus (p = 0.005, odds ratio = 2.65). Thus, maternal KIR are more frequently inhibitory with small babies but activating with big babies. At both extremes of birth weight, the KIR associations occur when their HLA-C2 ligand is paternally inherited by a fetus. We conclude that the two polymorphic immune gene systems, KIR and HLA-C, contribute to successful reproduction by maintaining birth weight between two extremes with a clear role for paternal HLA.

["Paternity leave"? Retrospective view on a delayed reform of maternity leave in Austria].

PubMed

Munz, R

1984-01-01

Only 1 of 3 Austrian fathers involves himself daily in child rearing, and the younger the children, the less likely he is to be involved. Austria is among those European countries with the greatest pregnancy benefits. New mothers may take up to 1 year of paid maternity leave without fear of losing their jobs. This article uses 1982 Institute of Demography survey data to determine support for similar paternity leave for fathers. In the last few years, both Social Democrat and Conservative women have worked for this leave, although the movement has also found opposition by women in trade unions, as well as from conservative groups. Survey results show that 46% of married Austrian women, under age 40, favor paternity leave; 1 or 4 women can imagine their husbands taking such leave. Among husbands, 34% favored the leave option, and 1 of 4 could imagine taking the leave for a least part of the baby's first year. The study attempts to identify those husbands most likely to take advantage of paternity leave. At present, most men will not choose to stay with their children at the expense of earnings reduction. Compensation reforms for both mothers and fathers must first occur before men and women in a position to make real decisions on maternity and paternity leave.

Paternal transmission of mitochondrial DNA as an integral part of mitochondrial inheritance in metapopulations of Drosophila simulans.

PubMed

Wolff, J N; Nafisinia, M; Sutovsky, P; Ballard, J W O

2013-01-01

Maternal inheritance is one of the hallmarks of animal mitochondrial DNA (mtDNA) and central to its success as a molecular marker. This mode of inheritance and subsequent lack of heterologous recombination allows us to retrace evolutionary relationships unambiguously down the matriline and without the confounding effects of recombinant genetic information. Accumulating evidence of biparental inheritance of mtDNA (paternal leakage), however, challenges our current understanding of how this molecule is inherited. Here, using Drosophila simulans collected from an East African metapopulation exhibiting recurring mitochondrial heteroplasmy, we conducted single fly matings and screened F1 offspring for the presence of paternal mtDNA using allele-specific PCR assays (AS-PCR). In all, 27 out of 4092 offspring were identified as harboring paternal mtDNA, suggesting a frequency of 0.66% paternal leakage in this species. Our findings strongly suggest that recurring mtDNA heteroplasmy as observed in natural populations of Drosophila simulans is most likely caused by repeated paternal leakage. Our findings further suggest that this phenomenon to potentially be an integral part of mtDNA inheritance in these populations and consequently of significance for mtDNA as a molecular marker.

Concordance between the quality of maternal and paternal parenting behavior within couples.

PubMed

Deschênes, Marie; Bernier, Annie; Jarry-Boileau, Véronique; St-Laurent, Diane

2014-01-01

There is compelling evidence that the quality of maternal and paternal parenting behavior bears critical importance for child development. Yet, less is known of the degree of similarity between maternal and paternal parenting behavior in families, and especially little is known about the factors that may explain variation in degrees of similarity. This article aims to examine (a) the concordance (similarity) between the quality of mothers' and fathers' interactive behavior with their child and (b) the sociodemographic determinants of this concordance. The sample included 74 families (mother, father, and their child). The quality of maternal and paternal interactive behavior was assessed independently, and rated with the Maternal Behavior Q-Sort (mother-infant, 12 months; D. R. Pederson et al., 1990) or the Mutually Responsive Orientation scale (father-toddler, 18 months; N. Aksan et al., 2006). The results indicated that the overall correlation between the quality of mothers' and fathers' behavior was moderate. The concordance was greater among higher socioeconomic status families or when interacting with a boy, but did not differ according to the presence or absence of siblings in the family.

Maternal Depression, Paternal Psychopathology, and Toddlers' Behavior Problems

ERIC Educational Resources Information Center

Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

2009-01-01

This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers' lives and/or mediated by maternal parenting behavior observed during mother-child interaction (Time 2). Of the…

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes.

PubMed

White, Helen E; Hall, Victoria J; Cross, Nicholas C P

2007-11-01

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders caused primarily by deficiency of specific parental contributions at an imprinted domain within the chromosomal region 15q11.2-13. Lack of paternal contribution results in PWS either by paternal deletion (approximately 70%) or maternal uniparental disomy (UPD) (approximately 25%). Most cases of AS result from the lack of a maternal contribution from this same region, by maternal deletion (70%) or paternal UPD (approximately 5%). Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus differentiates the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS. Methylation-sensitive high-resolution melting-curve analysis (MS-HRM) using the DNA binding dye EvaGreen was used to analyze methylation differences at the SNRPN locus in anonymized DNA samples from individuals with PWS (n = 39) or AS (n = 31) and from healthy control individuals (n = 95). Results from the MS-HRM assay were compared to those obtained by use of a methylation-specific PCR (MSP) protocol that is used commonly in diagnostic practice. With the MS-HRM assay 97.6% of samples were unambiguously assigned to the 3 diagnostic categories (AS, PWS, normal) by use of automated calling with an 80% confidence percentage threshold, and the failure rate was 0.6%. One PWS sample showed a discordant result for the MS-HRM assay compared to MSP data. MS-HRM is a simple, rapid, and robust method for screening methylation differences at the SNRPN locus and could be used as a diagnostic screen for PWS and AS.

Paternal Incarceration and Children's Physically Aggressive Behaviors: Evidence from the Fragile Families and Child Wellbeing Study

ERIC Educational Resources Information Center

Wildeman, Christopher

2010-01-01

This study extends research on the consequences of mass imprisonment and the causes of children's behavioral problems by considering the effects of paternal incarceration on children's physical aggression at age 5 using data from the Fragile Families and Child Wellbeing Study. Results suggest that paternal incarceration is associated with…

Brief Report: Phenotypic Differences and Their Relationship to Paternal Age and Gender in Autism Spectrum Disorder

ERIC Educational Resources Information Center

Vierck, Esther; Silverman, Jeremy M.

2015-01-01

Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic…

Paternal education status significantly influences infants’ measles vaccination uptake, independent of maternal education status

PubMed Central

2012-01-01

Background Despite increased funding of measles vaccination programs by national governments and international aid agencies, structural factors encumber attainment of childhood measles immunisation to levels which may guarantee herd immunity. One of such factors is parental education status. Research on the links between parental education and vaccination has typically focused on the influence of maternal education status. This study aims to demonstrate the independent influence of paternal education status on measles immunisation. Methods Comparable nationally representative survey data were obtained from six countries with the highest numbers of children missing the measles vaccine in 2008. Logistic regression analysis was applied to examine the influence of paternal education on uptake of the first dose of measles vaccination, independent of maternal education, whilst controlling for confounding factors such as respondent’s age, urban/rural residence, province/state of residence, religion, wealth and occupation. Results The results of the analysis show that even if a mother is illiterate, having a father with an education of Secondary (high school) schooling and above is statistically significant and positively correlated with the likelihood of a child being vaccinated for measles, in the six countries analysed. Paternal education of secondary or higher level was significantly and independently correlated with measles immunisation uptake after controlling for all potential confounders. Conclusions The influence of paternal education status on measles immunisation uptake was investigated and found to be statistically significant in six nations with the biggest gaps in measles immunisation coverage in 2008. This study underscores the imperative of utilising both maternal and paternal education as screening variables to identify children at risk of missing measles vaccination prospectively. PMID:22568861

Paternal Cyclophosphamide Exposure Induces the Formation of Functional Micronuclei during the First Zygotic Division

PubMed Central

Grenier, Lisanne; Robaire, Bernard; Hales, Barbara F.

2011-01-01

Paternal exposures to cancer chemotherapeutics or environmental chemicals may have adverse effects on progeny outcome that are manifested in the preimplantation embryo. The objectives of this study were to determine the impact of paternal exposure to cyclophosphamide, an anticancer alkylating agent, on the formation, chromatin origin and function of micronuclei in cleavage stage rat embryos. Male Sprague-Dawley rats were gavaged with saline or cyclophosphamide (6 mg/kg/day) for 4 weeks and mated to naturally cycling females to collect pronuclear zygotes and 2 to 8 cell embryos. Micronuclear chromatin structure was characterized using confocal microscopy to detect immunoreactivities for H3K9me3, a marker for maternal chromatin, and lamin B, a nuclear membrane marker. DNA synthesis was monitored using EdU (5-ethynyl-2′-deoxyuridine) incorporation. Fertilization by cyclophosphamide-exposed spermatozoa led to a dramatic elevation in micronuclei in cleavage stage embryos (control embryos: 1% to 5%; embryos sired by treated males: 70%). The formation of micronuclei occurred during the first zygotic division and was associated with a subsequent developmental delay. The absence of H3K9me3 indicated that these micronuclei were of paternal origin. The micronuclei had incomplete peri-nuclear and peri-nucleolar lamin B1 membrane formation but incorporated EdU into DNA to the same extent as the main nucleus. The formation of micronuclei in response to the presence of a damaged paternal genome may play a role in increasing the rate of embryo loss that is associated with the use of assisted reproductive technologies, parenthood among cancer survivors, and paternal aging. PMID:22110683

Paternal influences on pregnancy complications and birth outcomes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cleghorn de Rohrmoser, D.C.

1992-01-01

The purpose of this study was to investigate the relationship of selected characteristics of the paternal work environment and occupational history to the incidence of complications in pregnancy, complications in labor and anomalies in birth outcomes. The literature suggested that male exposure to teratogenic hazards in the form of radiation and chemical compounds, primarily in the form of solvents, has been implicated in reproductive disorders and malformed offspring in animals. Similarly, some recent research suggests that the exposure of male workers to such hazards on their job may have consequences for their spouses and children. Based on these experimental researchmore » studies and analyses of persons working in high risk occupations, a broader study of the potential contribution of paternal work environment variables to the success of pregnancy and birth outcomes seemed warranted. Based upon the literature review, a model was proposed for predicting complications in pregnancy, complications in labor and birth outcome (normal birth, low birth weight, congenital malformations and fetal death). From the 1980 National Natality Survey and the 1980 National Fetal Mortality Survey, four sub-samples of married couples, with both husband and wife employed, were selected on the basis of one of the four birth outcomes. The model called for controlling a range of maternal intrinsic and extrinsic health and behavioral variables known to be related to birth outcomes. Multiple logistic regression procedures were used to analyze the effects of father's exposure to radiation and solvents on the job, to complications in pregnancy and labor, and to birth outcome, while controlling for maternal variables. The results indicated that none of the paternal variables were predictors of complications in labor. Further, there was no clear pattern of results, though father's degree of exposure to solvents, and exposures to radiation did reach significance in some analyses.« less

High Fidelity – No Evidence for Extra-Pair Paternity in Siberian Jays (Perisoreus infaustus)

PubMed Central

Gienapp, Phillip; Merilä, Juha

2010-01-01

Extra-pair paternity (EPP) in birds is related to a number of ecological and social factors. For example, it has been found to be positively related with breeding density, negatively with the amount of paternal care and especially high rates have been observed in group-living species. Siberian jays (Perisoreous infaustus) breed at low densities and have extended parental care, which leads to the expectation of low rates of EPP. On the other hand, Siberian jays live in groups which can include also unrelated individuals, and provide opportunities for extra-pair matings. To assess the potential occurrence of EPP in Siberian jays, we analysed a large data pool (n = 1029 offspring) covering ca. 30 years of samples from a Finnish Siberian jay population. Paternities were assigned based on up to 21 polymorphic microsatellite markers with the additional information from field observations. We were unable to find any evidence for occurrence of EPP in this species. Our findings are in line with earlier studies and confirm the generally low rates of EPP in related Corvid species. These results suggest that ecological factors may be more important than social factors (group living) in determining costs and benefits of extra-pair paternity. PMID:20711255

Length of paternal lifespan is manifested in the DNA methylome of their nonagenarian progeny

PubMed Central

Marttila, Saara; Kananen, Laura; Jylhävä, Juulia; Nevalainen, Tapio; Hervonen, Antti; Jylhä, Marja; Hurme, Mikko

2015-01-01

The heritability of lifespan is 20-30%, but only a few genes associated with longevity have been identified. To explain this discrepancy, the inheritance of epigenetic features, such as DNA methylation, have been proposed to contribute to the heritability of lifespan. We investigated whether parental lifespan is associated with DNA methylation profile in nonagenarians. A regression model, adjusted for differences in blood cell proportions, identified 659 CpG sites where the level of methylation was associated with paternal lifespan. However, no association was observed between maternal lifespan and DNA methylation. The 659 CpG sites associated with paternal lifespan were enriched outside of CpG islands and were located in genes associated with development and morphogenesis, as well as cell signaling. The largest difference in the level of methylation between the progeny of the shortest-lived and longest-lived fathers was identified for CpG sites mapping to CXXC5. In addition, the level of methylation in three Notch-genes (NOTCH1, NOTCH3 and NOTCH4) was also associated with paternal lifespan. There are implications for the inheritance of acquired traits via epigenetic mechanisms in mammals. Here we describe DNA methylation features that are associated with paternal lifespan, and we speculate that the identified CpG sites may represent intergenerational epigenetic inheritance. PMID:26436701

Child gender influences paternal behavior, language, and brain function.

PubMed

Mascaro, Jennifer S; Rentscher, Kelly E; Hackett, Patrick D; Mehl, Matthias R; Rilling, James K

2017-06-01

Multiple lines of research indicate that fathers often treat boys and girls differently in ways that impact child outcomes. The complex picture that has emerged, however, is obscured by methodological challenges inherent to the study of parental caregiving, and no studies to date have examined the possibility that gender differences in observed real-world paternal behavior are related to differential paternal brain responses to male and female children. Here we compare fathers of daughters and fathers of sons in terms of naturalistically observed everyday caregiving behavior and neural responses to child picture stimuli. Compared with fathers of sons, fathers of daughters were more attentively engaged with their daughters, sang more to their daughters, used more analytical language and language related to sadness and the body with their daughters, and had a stronger neural response to their daughter's happy facial expressions in areas of the brain important for reward and emotion regulation (medial and lateral orbitofrontal cortex [OFC]). In contrast, fathers of sons engaged in more rough and tumble play (RTP), used more achievement language with their sons, and had a stronger neural response to their son's neutral facial expressions in the medial OFC (mOFC). Whereas the mOFC response to happy faces was negatively related to RTP, the mOFC response to neutral faces was positively related to RTP, specifically for fathers of boys. These results indicate that real-world paternal behavior and brain function differ as a function of child gender. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Father Involvement: The Importance of Paternal Solo Care

ERIC Educational Resources Information Center

Wilson, Katherine R.; Prior, Margot R.

2010-01-01

Paternal time spent caring for children alone is qualitatively different from time together mediated by the presence of the mother and may be particularly relevant to father-child relations. Many fathers spend minimal time alone with their children. Indeed, it is still commonly referred to as "babysitting". We explored the concept of Solo Care as…

Histone variant H3.3-mediated chromatin remodeling is essential for paternal genome activation in mouse preimplantation embryos.

PubMed

Kong, Qingran; Banaszynski, Laura A; Geng, Fuqiang; Zhang, Xiaolei; Zhang, Jiaming; Zhang, Heng; O'Neill, Claire L; Yan, Peidong; Liu, Zhonghua; Shido, Koji; Palermo, Gianpiero D; Allis, C David; Rafii, Shahin; Rosenwaks, Zev; Wen, Duancheng

2018-03-09

Derepression of chromatin-mediated transcriptional repression of paternal and maternal genomes is considered the first major step that initiates zygotic gene expression after fertilization. The histone variant H3.3 is present in both male and female gametes and is thought to be important for remodeling the paternal and maternal genomes for activation during both fertilization and embryogenesis. However, the underlying mechanisms remain poorly understood. Using our H3.3B-HA-tagged mouse model, engineered to report H3.3 expression in live animals and to distinguish different sources of H3.3 protein in embryos, we show here that sperm-derived H3.3 (sH3.3) protein is removed from the sperm genome shortly after fertilization and extruded from the zygotes via the second polar bodies (PBII) during embryogenesis. We also found that the maternal H3.3 (mH3.3) protein is incorporated into the paternal genome as early as 2 h postfertilization and is detectable in the paternal genome until the morula stage. Knockdown of maternal H3.3 resulted in compromised embryonic development both of fertilized embryos and of androgenetic haploid embryos. Furthermore, we report that mH3.3 depletion in oocytes impairs both activation of the Oct4 pluripotency marker gene and global de novo transcription from the paternal genome important for early embryonic development. Our results suggest that H3.3-mediated paternal chromatin remodeling is essential for the development of preimplantation embryos and the activation of the paternal genome during embryogenesis. © 2018 by The American Society for Biochemistry and Molecular Biology, Inc.

"Nudge" in the clinical consultation--an acceptable form of medical paternalism?

PubMed

Aggarwal, Ajay; Davies, Joanna; Sullivan, Richard

2014-04-17

Libertarian paternalism is a concept derived from cognitive psychology and behavioural science. It is behind policies that frame information in such a way as to encourage individuals to make choices which are in their best interests, while maintaining their freedom of choice. Clinicians may view their clinical consultations as far removed from the realms of cognitive psychology but on closer examination there are a number of striking similarities. Evidence has shown that decision making is prone to bias and not necessarily rational or logical, particularly during ill health. Clinicians will usually have an opinion about what course of action represents the patient's best interests and thus may "frame" information in a way which "nudges" patients into making choices which are considered likely to maximise their welfare. This may be viewed as interfering with patient autonomy and constitute medical paternalism and appear in direct opposition to the tenets of modern practice. However, we argue that clinicians have a responsibility to try and correct "reasoning failure" in patients. Some compromise between patient autonomy and medical paternalism is justified on these grounds and transparency of how these techniques may be used should be promoted. Overall the extremes of autonomy and paternalism are not compatible in a responsive, responsible and moral health care environment, and thus some compromise of these values is unavoidable. Nudge techniques are widely used in policy making and we demonstrate how they can be applied in shared medical decision making. Whether or not this is ethically sound is a matter of continued debate but health care professionals cannot avoid the fact they are likely to be using nudge within clinical consultations. Acknowledgment of this will lead to greater self-awareness, reflection and provide further avenues for debate on the art and science of clinical communication.

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.

PubMed

Pyle, Angela; Hudson, Gavin; Wilson, Ian J; Coxhead, Jonathan; Smertenko, Tania; Herbert, Mary; Santibanez-Koref, Mauro; Chinnery, Patrick F

2015-05-01

Recent reports have questioned the accepted dogma that mammalian mitochondrial DNA (mtDNA) is strictly maternally inherited. In humans, the argument hinges on detecting a signature of inter-molecular recombination in mtDNA sequences sampled at the population level, inferring a paternal source for the mixed haplotypes. However, interpreting these data is fraught with difficulty, and direct experimental evidence is lacking. Using extreme-high depth mtDNA re-sequencing up to ~1.2 million-fold coverage, we find no evidence that paternal mtDNA haplotypes are transmitted to offspring in humans, thus excluding a simple dilution mechanism for uniparental transmission of mtDNA present in all healthy individuals. Our findings indicate that an active mechanism eliminates paternal mtDNA which likely acts at the molecular level.

Combination of DNA-based and conventional methods to detect human leukocyte antigen polymorphism and its use for paternity testing.

PubMed

Kereszturya, László; Rajczya, Katalin; Lászikb, András; Gyódia, Eva; Pénzes, Mária; Falus, András; Petrányia, Gyõzõ G

2002-03-01

In cases of disputed paternity, the scientific goal is to promote either the exclusion of a falsely accused man or the affiliation of the alleged father. Until now, in addition to anthropologic characteristics, the determination of genetic markers included human leukocyte antigen gene variants; erythrocyte antigens and serum proteins were used for that reason. Recombinant DNA techniques provided a new set of highly variable genetic markers based on DNA nucleotide sequence polymorphism. From the practical standpoint, the application of these techniques to paternity testing provides greater versatility than do conventional genetic marker systems. The use of methods to detect the polymorphism of human leukocyte antigen loci significantly increases the chance of validation of ambiguous results in paternity testing. The outcome of 2384 paternity cases investigated by serologic and/or DNA-based human leukocyte antigen typing was statistically analyzed. Different cases solved by DNA typing are presented involving cases with one or two accused men, exclusions and nonexclusions, and tests of the paternity of a deceased man. The results provide evidence for the advantage of the combined application of various techniques in forensic diagnostics and emphasizes the outstanding possibilities of DNA-based assays. Representative examples demonstrate the strength of combined techniques in paternity testing.

Mechanisms of Association between Paternal Alcoholism and Abuse of Alcohol and Other Illicit Drugs among Adolescents

ERIC Educational Resources Information Center

Peleg-Oren, Neta; Hospital, Michelle; Morris, Staci Leon; Wagner, Eric F.

2013-01-01

The current study examines the effect of paternal alcohol problems on adolescent use of alcohol and other illicit drugs as a function of maternal communication, as well as adolescent social and coping skills (N = 145). Structural equation modeling (SEM) analyses indicated that adolescents with a paternal history of alcohol problems reported higher…

The role of the paternal health history in cord blood banking.

PubMed

Askari, Sabeen; Miller, John; Clay, Mary; Moran, Sheila; Chrysler, Gayl; McCullough, Jeffrey

2002-10-01

Umbilical cord blood (UCB) transplantation is becoming more widely used, yet ethical and policy issues regarding consent and health history persist. Whereas most UCB banks do not require paternal consent or paternal health history (PHH), both are obtained at this institution whenever possible. This study assessed the value of PHH in making UCB safer. A retrospective review was performed of all cord blood units (CBUs) collected by this bank between November 1999 and October 2000. All discarded CBUs were studied to identify those deferred based exclusively on PHH provided by the father in the PHH questionnaire. PHH was obtained for 301 of 655 (46%) CBUs collected. Of the 339 CBUs banked, 269 (79%) had PHH available. Three of the 301 CBUs in which PHH was available were discarded based solely on PHH, since maternal medical history and infectious disease testing were negative. Paternal high-risk factors in those three cases were: gave money or drugs for sex; traveled to an HIV high-risk area; and did not answer high-risk questions. Considerable time and effort is expended in the process and follow-up of obtaining PHH with an overall indistinct and unconvincing role in minimizing infectious disease transmission risk in UCB banking.

Advancing paternal age and offspring violent offending: A sibling-comparison study

PubMed Central

Kuja-Halkola, Ralf; Pawitan, Yudi; D’Onofrio, Brian M; Långström, Niklas; Lichtenstein, Paul

2013-01-01

Children born to older fathers are at higher risk to develop severe psychopathology (e.g., schizophrenia and bipolar disorder), possibly due to increased de novo mutations during spermatogenesis with older paternal age. Since severe psychopathology is correlated with antisocial behavior, we examined possible associations between advancing paternal age and offspring violent offending. Interlinked Swedish national registers provided information on fathers’ age at childbirth and violent criminal convictions in all offspring born 1958–1979 (n=2,359,921). We used ever committing a violent crime and number of violent crimes as indices of violent offending. The data included information on multiple levels; we compared differentially exposed siblings in within-family analyses to rigorously test causal influences. In the entire population, advancing paternal age predicted offspring violent crime according to both indices. Congruent with a causal effect, this association remained for rates of violent crime in within-family analyses. However, in within-analyses, we found no association with ever committing a violent crime, suggesting that factors shared by siblings (genes and environment) confounded this association. Life-course-persistent criminality has been proposed to have a partly biological etiology; our results agree with a stronger biological effect (i.e., de novo mutations) on persistent violent offending. PMID:22781852

Advancing paternal age and offspring violent offending: a sibling-comparison study.

PubMed

Kuja-Halkola, Ralf; Pawitan, Yudi; D'Onofrio, Brian M; Långström, Niklas; Lichtenstein, Paul

2012-08-01

Children born to older fathers are at higher risk to develop severe psychopathology (e.g., schizophrenia and bipolar disorder), possibly because of increased de novo mutations during spermatogenesis with older paternal age. Because severe psychopathology is correlated with antisocial behavior, we examined possible associations between advancing paternal age and offspring violent offending. Interlinked Swedish national registers provided information on fathers' age at childbirth and violent criminal convictions in all offspring born from 1958 to 1979 (N = 2,359,921). We used ever committing a violent crime and number of violent crimes as indices of violent offending. The data included information on multiple levels; we compared differentially exposed siblings in within-family analyses to rigorously test causal influences. In the entire population, advancing paternal age predicted offspring violent crime according to both indices. Congruent with a causal effect, this association remained for rates of violent crime in within-family analyses. However, in within-family analyses, we found no association with ever committing a violent crime, suggesting that factors shared by siblings (genes and environment) confounded this association. Life-course persistent criminality has been proposed to have a partly biological etiology; our results agree with a stronger biological effect (i.e., de novo mutations) on persistent violent offending.

Effects of paternal deprivation on cocaine-induced behavioral response and hypothalamic oxytocin immunoreactivity and serum oxytocin level in female mandarin voles.

PubMed

Wang, Jianli; Fang, Qianqian; Yang, Chenxi

2017-09-15

Early paternal behavior plays a critical role in behavioral development in monogamous species. The vast majority of laboratory studies investigating the influence of parental behavior on cocaine vulnerability focus on the effects of early maternal separation. However, comparable studies on whether early paternal deprivation influences cocaine-induced behavioral response are substantially lacking. Mandarin vole (Microtus mandarinus) is a monogamous rodent with high levels of paternal care. After mandarin vole pups were subjected to early paternal deprivation, acute cocaine- induced locomotion, anxiety- like behavior and social behavior were examined in 45day old female pups, while hypothalamic oxytocin immunoreactivity and serum oxytocin level were also assessed. We found that cocaine increased locomotion and decreased social investigation, contact behavior and serum oxytocin level regardless of paternal care. Cocaine increased anxiety levels and decreased oxytocin immunoreactive neurons of the paraventricular nuclei and supraoptic nuclei in the bi-parental care group, whilst there were no specific effects in the paternal deprivation group. These results indicate that paternal deprivation results in different behavioral response to acute cocaine exposure in adolescents, which may be in part associated with the alterations in oxytocin immunoreactivity and peripheral OT level. Copyright © 2017 Elsevier B.V. All rights reserved.

Risk of Adverse Pregnancy Outcome After Paternal Exposure to Methotrexate Within 90 Days Before Pregnancy.

PubMed

Eck, Lasse Karlsen; Jensen, Thomas Bo; Mastrogiannis, Dimitrios; Torp-Pedersen, Arendse; Askaa, Bjarke; Nielsen, Torben Kjær; Poulsen, Henrik Enghusen; Jimenez-Solem, Espen; Andersen, Jon Trærup

2017-04-01

To study the association between paternal exposure to methotrexate within the 90-day period before pregnancy and congenital malformations and stillbirth in the offspring. We conducted a nationwide register study. Our cohort consisted of all live births in Denmark between 1997 and 2011 identified from the Medical Birth Registry. Methotrexate-exposed fathers were identified from the National Prescription Registry. From the national Hospital Registry we identified paternity, live births, and stillbirths as well as discharge diagnoses on congenital malformations. We identified 849,676 live births with known paternity. There were 127 live births of methotrexate-exposed fathers. Of these, four (3.2%) had major malformations compared with 28,814 (3.4%) of the unexposed. The odds ratio (OR) for major congenital malformation among exposed fathers compared with unexposed was 0.93 (95% confidence interval [CI] 0.34-2.51) and when adjusted for year of birth, maternal age, educational length, household income, and parity, the adjusted OR was 1.01 (95% CI 0.37-2.74). There were no stillbirths in the methotrexate-exposed group compared with 2,541 (0.3%) in the unexposed group and no increased risk of preterm birth (adjusted OR 1.31, 95% CI 0.66-2.59) among the children from exposed fathers. We found no association between paternal exposure to methotrexate within 90 days before pregnancy and congenital malformations, stillbirths, or preterm birth. Available data suggest that prepregnancy paternal methotrexate exposure should not be of major concern. Multinational recommendations should be changed accordingly.

Relational conceptions of paternalism: a way to rebut nanny-state accusations and evaluate public health interventions.

PubMed

Carter, S M; Entwistle, V A; Little, M

2015-08-01

'Nanny-state' accusations can function as powerful rhetorical weapons against interventions intended to promote public health. Public health advocates often lack effective rebuttals to these criticisms. Nanny-state accusations are largely accusations of paternalism. They conjure up emotive concern about undue governmental interference undermining peoples' autonomy. But autonomy can be understood in various ways. We outline three main conceptions of autonomy, argue that these that can underpin three different conceptions of paternalism, and consider implications for responses to nanny-state accusations and the assessment of public health interventions. Detailed conceptual analysis. The conceptions of paternalism implicit in nanny-state accusations generally depend on libertarian conceptions of autonomy. These reflect unrealistic views of personal independence and do not discriminate sufficiently between trivial and important freedoms. Decisional conceptions of paternalism, like their underlying decisional conceptions of autonomy, have limited applicability in public health contexts. Relational conceptions of paternalism incorporate relational conceptions of autonomy, so recognize that personal autonomy depends on socially shaped skills, self-identities and self-evaluations as well as externally structured opportunities. They encourage attention to the various ways that social interactions and relationships, including disrespect, stigmatization and oppression, can undermine potential for autonomy. While nanny-state accusations target any interference with negative freedom, however trivial, relational conceptions direct concerns to those infringements of negative freedom, or absences of positive freedom, serious enough to undermine self-determination, self-governance and/or self-authorization. Relational conceptions of autonomy and paternalism offer public health policymakers and practitioners a means for rebutting nanny-state accusations, and can support more nuanced

Do paternal arrest and imprisonment lead to child behaviour problems and substance use? A longitudinal analysis.

PubMed

Kinner, Stuart A; Alati, Rosa; Najman, Jake M; Williams, Gail M

2007-11-01

Children of prisoners are at increased risk of impaired health, behavioural problems and substance misuse; however, the causal pathways to these problems are unclear. Under some circumstances, parental imprisonment may result in improved outcomes for the child. This study investigates the impact of paternal arrest and imprisonment on child behaviour and substance use, as a function of child gender, and in the context of known social and familial risk factors. Longitudinal analysis of an Australian birth cohort (N = 2,399) recruited 1981-83, with child outcomes measured at age 14. Participants were recruited prenatally from a large, public hospital in Brisbane, Australia and followed up in the community. History of paternal arrest and imprisonment were based on maternal self-report, at age 14. Outcome measures included mother- and child-reported internalising and externalising behaviour (CBCL and YSR), and child self-reported alcohol and tobacco use. In univariate analyses, paternal imprisonment was associated with maternal reports of increased child internalising (OR = 1.82, 95%CI 1.08-3.06) and externalising (OR = 2.24, 95%CI 1.41-3.57), and alcohol use (OR = 1.68, 95%CI 1.11-2.53) at age 14. However, controlling for socio-economic status, maternal mental health and substance use, parenting style and family adjustment, these associations became non-significant. For boys only, in the multivariate model paternal arrest but not imprisonment predicted alcohol (OR = 1.79, 95%CI 1.09-2.95) and tobacco (OR = 1.83, 95%CI 1.03-3.25) use at age 14. The association between paternal arrest and imprisonment and adverse outcomes in adolescence is accounted for by well-established social and familial risk factors. Paternal imprisonment may not, in itself, increase the risk for child behaviour and substance use problems.

The influences of parental divorce and maternal-versus-paternal alcohol abuse on offspring lifetime suicide attempt.

PubMed

Thompson, Ronald G; Alonzo, Dana; Hu, Mei-Chen; Hasin, Deborah S

2017-05-01

Research indicates that parental divorce and parental alcohol abuse independently increase likelihood of offspring lifetime suicide attempt. However, when experienced together, only parental alcohol abuse significantly increased odds of suicide attempt. It is unclear to what extent differences in the effect of maternal versus paternal alcohol use exist on adult offspring lifetime suicide attempt risk. This study examined the influences of parental divorce and maternal-paternal histories of alcohol problems on adult offspring lifetime suicide attempt. The sample consisted of participants from the 2001-2002 National Epidemiological Survey on Alcohol and Related Conditions. The simultaneous effect of childhood or adolescent parental divorce and maternal and paternal history of alcohol problems on offspring lifetime suicide attempt was estimated using a logistic regression model with an interaction term for demographics and parental history of other emotional and behavioural problems. Parental divorce and maternal-paternal alcohol problems interacted to differentially influence the likelihood of offspring lifetime suicide attempt. Experiencing parental divorce and either maternal or paternal alcohol problems nearly doubled the likelihood of suicide attempt. Divorce and history of alcohol problems for both parents tripled the likelihood. Individuals who experienced parental divorce as children or adolescents and who have a parent who abuses alcohol are at elevated risk for lifetime suicide attempt. These problem areas should become a routine part of assessment to better identify those at risk for lifetime suicide attempt and to implement early and targeted intervention to decrease such risk. [Thompson RG Jr,Alonzo D, Hu M-C, Hasin DS. The influences of parental divorce and maternal-versus-paternal alcohol abuse on offspringlifetime suicide attempt. Drug Alcohol Rev 2017;36:408-414]. © 2016 Australasian Professional Society on Alcohol and other Drugs.

Paternal age at birth is associated with offspring leukocyte telomere length in the nurses' health study.

PubMed

Prescott, J; Du, M; Wong, J Y Y; Han, J; De Vivo, I

2012-12-01

Is the association between paternal age at birth and offspring leukocyte telomere length (LTL) an artifact of early life socioeconomic status (SES)? Indicators of early life SES did not alter the relationship between paternal age at birth and offspring LTL among a population of white female nurses. Telomere length is considered a highly heritable trait. Recent studies report a positive correlation between paternal age at birth and offspring LTL. Maternal age at birth has also been positively associated with offspring LTL, but may stem from the strong correlation with paternal age at birth. The Nurses' Health Study (NHS) is an ongoing prospective cohort study of 121 700 female registered nurses who were enrolled in 1976. Great effort goes into maintaining a high degree of follow-up among our cohort participants (>95% of potential person-years). In 1989-1990, a subset of 32 826 women provided blood samples from which we selected participants for several nested case-control studies of telomere length and incident chronic disease. We used existing LTL data on a total of 4250 disease-free women who also reported maternal and paternal age at birth for this study. Nested case-control studies of stroke, myocardial infarction, cancers of the breast, endometrium, skin, pancreas and colon, as well as colon adenoma, were conducted within the blood sub-cohort. Each study used the following study design: for each case of a disease diagnosed after blood collection, a risk-set sampling scheme was used to select from one to three controls from the remaining participants in the blood sub-cohort who were free of that disease when the case was diagnosed. Controls were matched to cases by age at blood collection (± 1 year), date of blood collection (± 3 months), menopausal status, recent postmenopausal hormone use at blood collection (within 3 months, except for the myocardial infarction case-control study), as well as other factors carefully chosen for each individual study. The

Density drives polyandry and relatedness influences paternal success in the Pacific gooseneck barnacle, Pollicipes elegans.

PubMed

Plough, Louis V; Moran, Amy; Marko, Peter

2014-04-16

Polyandry is a common mating strategy in animals, increasing female fitness through direct (material) and indirect (genetic) benefits. Most theories about the benefits of polyandry come from studies of terrestrial animals, which have relatively complex mating systems and behaviors; less is known about the potential benefits of polyandry in sessile marine animals, for which potential mates may be scarce and females have less control over pre-copulatory mate choice. Here, we used microsatellite markers to examine multiple paternity in natural aggregations of the Pacific gooseneck barnacle Pollicipes elegans, testing the effect of density on paternity and mate relatedness on male reproductive success. We found that multiple paternity was very common (79% of broods), with up to five fathers contributing to a brood, though power was relatively low to detect more than four fathers. Density had a significant and positive linear effect on the number of fathers siring a brood, though this relationship leveled off at high numbers of fathers, which may reflect a lack of power and/or an upper limit to polyandry in this species. Significant skew in male reproductive contribution in multiply-sired broods was observed and we found a positive and significant relationship between the proportion of offspring sired and the genetic similarity between mates, suggesting that genetic compatibility may influence reproductive success in this species. To our knowledge, this is the first study to show high levels of multiple paternity in a barnacle, and overall, patterns of paternity in P. elegans appear to be driven primarily by mate availability. Evidence of paternity bias for males with higher relatedness suggests some form of post-copulatory sexual selection is taking place, but more work is needed to determine whether it operates during or post-fertilization. Overall, our results suggest that while polyandry in P. elegans is driven by mate availability, it may also provide a mechanism

Density drives polyandry and relatedness influences paternal success in the Pacific gooseneck barnacle, Pollicipes elegans

PubMed Central

2014-01-01

Background Polyandry is a common mating strategy in animals, increasing female fitness through direct (material) and indirect (genetic) benefits. Most theories about the benefits of polyandry come from studies of terrestrial animals, which have relatively complex mating systems and behaviors; less is known about the potential benefits of polyandry in sessile marine animals, for which potential mates may be scarce and females have less control over pre-copulatory mate choice. Here, we used microsatellite markers to examine multiple paternity in natural aggregations of the Pacific gooseneck barnacle Pollicipes elegans, testing the effect of density on paternity and mate relatedness on male reproductive success. Results We found that multiple paternity was very common (79% of broods), with up to five fathers contributing to a brood, though power was relatively low to detect more than four fathers. Density had a significant and positive linear effect on the number of fathers siring a brood, though this relationship leveled off at high numbers of fathers, which may reflect a lack of power and/or an upper limit to polyandry in this species. Significant skew in male reproductive contribution in multiply-sired broods was observed and we found a positive and significant relationship between the proportion of offspring sired and the genetic similarity between mates, suggesting that genetic compatibility may influence reproductive success in this species. Conclusions To our knowledge, this is the first study to show high levels of multiple paternity in a barnacle, and overall, patterns of paternity in P. elegans appear to be driven primarily by mate availability. Evidence of paternity bias for males with higher relatedness suggests some form of post-copulatory sexual selection is taking place, but more work is needed to determine whether it operates during or post-fertilization. Overall, our results suggest that while polyandry in P. elegans is driven by mate availability, it

Transcript map of the Ovum mutant (Om) locus: isolation by exon trapping of new candidate genes for the DDK syndrome.

PubMed

Le Bras, Stéphanie; Cohen-Tannoudji, Michel; Guyot, Valérie; Vandormael-Pournin, Sandrine; Coumailleau, Franck; Babinet, Charles; Baldacci, Patricia

2002-08-21

The DDK syndrome is defined as the embryonic lethality of F1 mouse embryos from crosses between DDK females and males from other strains (named hereafter as non-DDK strains). Genetically controlled by the Ovum mutant (Om) locus, it is due to a deleterious interaction between a maternal factor present in DDK oocytes and the non-DDK paternal pronucleus. Therefore, the DDK syndrome constitutes a unique genetic tool to study the crucial interactions that take place between the parental genomes and the egg cytoplasm during mammalian development. In this paper, we present an extensive analysis performed by exon trapping on the Om region. Twenty-seven trapped sequences were from genes in the databases: beta-adaptin, CCT zeta2, DNA LigaseIII, Notchless, Rad51l3 and Scya1. Twenty-eight other sequences presented similarities with expressed sequence tags and genomic sequences whereas 57 did not. The pattern of expression of 37 of these markers was established. Importantly, five of them are expressed in DDK oocytes and are candidate genes for the maternal factor, and 20 are candidate genes for the paternal factor since they are expressed in testis. This data is an important step towards identifying the genes responsible for the DDK syndrome.

Paternal Postnatal and Subsequent Mental Health Symptoms and Child Socio-Emotional and Behavioural Problems at School Entry

ERIC Educational Resources Information Center

Smith, Hannah R.; Eryigit-Madzwamuse, Suna; Barnes, Jacqueline

2013-01-01

Research on the effect of paternal mental health problems, particularly on young children, is based predominantly on clinical levels of depression. Furthermore, potential mediators such as marital discord have often been overlooked. This longitudinal community study assessed the association between paternal mental health symptoms in a community…

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

PubMed Central

Pyle, Angela; Hudson, Gavin; Wilson, Ian J.; Coxhead, Jonathan; Smertenko, Tania; Herbert, Mary; Santibanez-Koref, Mauro; Chinnery, Patrick F.

2015-01-01

Recent reports have questioned the accepted dogma that mammalian mitochondrial DNA (mtDNA) is strictly maternally inherited. In humans, the argument hinges on detecting a signature of inter-molecular recombination in mtDNA sequences sampled at the population level, inferring a paternal source for the mixed haplotypes. However, interpreting these data is fraught with difficulty, and direct experimental evidence is lacking. Using extreme-high depth mtDNA re-sequencing up to ~1.2 million-fold coverage, we find no evidence that paternal mtDNA haplotypes are transmitted to offspring in humans, thus excluding a simple dilution mechanism for uniparental transmission of mtDNA present in all healthy individuals. Our findings indicate that an active mechanism eliminates paternal mtDNA which likely acts at the molecular level. PMID:25973765

Paternal Involvement with Children: The Influence of Gender Ideologies

ERIC Educational Resources Information Center

Bulanda, Ronald E.

2004-01-01

Although prior social science research has established the ability of gender ideologies to influence the domestic division of labor, it has neglected to disentangle their potentially unique influence on paternal involvement with children. Past research examining the influence of gender ideology on parenting behaviors does not acknowledge potential…

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PubMed

Syngal, Sapna; Brand, Randall E; Church, James M; Giardiello, Francis M; Hampel, Heather L; Burt, Randall W

2015-02-01

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

PubMed Central

Syngal, Sapna; Brand, Randall E.; Church, James M.; Giardiello, Francis M.; Hampel, Heather L.; Burt, Randall W.

2015-01-01

This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. PMID:25645574

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

PubMed

Butler, Merlin G; Manzardo, Ann M; Forster, Janice L

2016-01-01

Prader-Willi syndrome (PWS) is a neuro-developmental genetic disorder due to lack of expression of genes inherited from the paternal chromosome 15q11-q13 region with three main genetic subtypes. These include paternal 15q11-q13 deletion (about 70% of cases), maternal uniparental disomy 15 or both 15s from the mother (20-30% of cases), and defects in the imprinting center (1-3%) which controls the expression of imprinted genes in this chromosome region. Clinical manifestations include infantile hypotonia with a poor suck resulting in failure to thrive, short stature, small hands/feet and hypogonadism/hypogenitalism due to growth and other hormone deficiencies, hyperphagia and excessive weight gain with obesity and cognitive and behavioral problems including obsessive compulsions, tantrums and self-injury. The phenotype is likely related to hypothalamic dysfunction. Hyperphagia and obesity with related complications are major causes of morbidity and mortality in PWS requiring accurate diagnosis, appropriate medical management and treatment; the major objective of our report. An extensive review of the literature was undertaken including genetics, clinical and behavioral aspects, and updated health-related information addressing the importance of early diagnosis and treatment of individuals with Prader-Willi syndrome. A searchable, bulleted and formatted list of topics related to this obesity syndrome was provided utilizing a Table of Contents approach for the clinical practitioner. Physicians and other health care providers can use this review with clinical, genetic and treatment summaries divided into sections that are pertinent in the context of clinical practice. Finally, frequently asked questions by clinicians, families and other interested participants will be addressed.

Reduced IFN-γ and IL-10 responses to paternal antigens during and after pregnancy in allergic women.

PubMed

Persson, Marie; Ekerfelt, Christina; Ernerudh, Jan; Matthiesen, Leif; Abelius, Martina Sandberg; Jonsson, Yvonne; Berg, Göran; Jenmalm, Maria C

2012-09-01

Normal pregnancy and allergy are both characterized by a T helper (Th) 2 deviation. In the current study, we hypothesized that paternal antigen-induced cytokine responses during pregnancy would be deviated toward Th2 and an anti-inflammatory profile, and that the Th2 deviation would be more pronounced in allergic pregnant women. Blood samples were collected longitudinally on three occasions during pregnancy and two occasions post partum (pp). Of the 86 women initially included, 54 women had a normal pregnancy and completed the sampling procedures. Twelve women fulfilled the criteria for allergy (allergic symptoms and circulating immunoglobulin [Ig] E antibodies to inhalant allergens) and 20 were non-allergic (nonsensitized without symptoms). The levels of Th1- and Th2-associated cytokines and chemokines, the Th17 cytokine IL-17 and the anti-inflammatory cytokine IL-10 of the groups were compared. Paternal antigen-induced IL-4 and IL-10 responses increased between the first and the third trimester. Allergy was associated with decreased paternal antigen-induced IFN-γ and CXCL10 secretion in the nonpregnant state (one year pp) and also decreased IFN-γ/IL-4 and IFN-γ/IL-13 ratios during pregnancy. We also observed a decreased paternal antigen-induced IL-10 response in allergic compared with non-allergic women during pregnancy, along with a decreased IL-10/IL-13 ratio. In conclusion, our findings support the hypothesis of lower Th1 responses toward paternal antigens in allergic than in non-allergic women, but also indicate that allergy is associated with a lower capacity to induce anti-inflammatory IL-10 responses after paternal antigen stimulation during pregnancy. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Falling Behind? Children's Early Grade Retention after Paternal Incarceration

ERIC Educational Resources Information Center

Turney, Kristin; Haskins, Anna R.

2014-01-01

A growing literature documents the myriad penalties for children of incarcerated fathers, but relatively little is known about how paternal incarceration contributes to educational outcomes in early and middle childhood. In this article, we use data from the Fragile Families and Child Wellbeing Study to provide the first estimates of the…

Difference in Psychosocial Well-being Between Paternal and Maternal AIDS Orphans in Rural China

PubMed Central

Zhao, Qun; Li, Xiaoming; Fang, Xiaoyi; Zhao, Guoxiang; Zhao, Junfeng; Lin, Xiuyun; Stanton, Bonita

2009-01-01

This study compares psychosocial well-being between paternal and maternal orphans in rural China in a sample (N = 459) of children who had lost one parent to HIV and who were in family-based care. Measures included academic marks, education expectation, trusting relationships with current caregivers, self-reported health status, depression, loneliness, posttraumatic stress, and social support. No significant differences were found between maternal and paternal orphans, except that paternal orphans reported better trusting relationships with caregivers than maternal orphans. Children with a healthy surviving parent reported significantly better depression, loneliness, posttraumatic stress, and social support scores than children with a sick parent. Analyses revealed significance with regard to orphan status on academic marks and trusting relationships with caregivers while controlling for age, gender, surviving parent’s health status, and family SES. Findings underscore the importance of psychosocial support for children whose surviving parent is living with HIV or another illness. PMID:20133172

Postnatal paternal involvement and maternal emotional disturbances: The effect of maternal employment status.

PubMed

Lin, Wan-Chien; Chang, Shin-Yow; Chen, Yi-Ting; Lee, Hsin-Chien; Chen, Yi-Hua

2017-09-01

Recently, studies have begun emphasizing paternal involvement during the perinatal period and its impact on maternal health. However, most studies have assessed maternal perception and focused on adolescents or minority groups in Western countries. Therefore, the current study investigated the association between paternal involvement and maternal postnatal depression and anxiety, along with the effects of maternal job status in the Asian society of Taiwan. This study recruited pregnant women in the first trimester of pregnancy as well as their partners on prenatal visits from July 2011 to September 2013 at four selected hospitals in metropolitan areas of Taipei, Taiwan. In total, 593 parental pairs completed the first interview and responded to the follow-up questionnaires until 6 months postpartum. Self-reported data were collected, and multiple logistic regression models were used for analyses. Lower paternal childcare and nursing frequency was independently associated with an increased risk of maternal postpartum depression (adjusted odds ratio (OR) =4.33, 95% confidence interval (CI)=1.34-13.98), particularly among unemployed mothers. Furthermore, among unemployed mothers, the risk of postnatal anxiety was 3.14 times higher in couples with fathers spending less time with the child, compared with couples with fathers spending more time (95% CI=1.10-8.98). However, no significant findings were obtained for employed mothers. The high prevalence of maternal postnatal emotional disturbances warrants continual consideration. Higher paternal involvement in childcare arrangements should be emphasized to aid in ameliorating these maternal emotional disturbances, particularly among unemployed mothers. Copyright © 2017 Elsevier B.V. All rights reserved.

Multiple Mating, Paternity and Complex Fertilisation Patterns in the Chokka Squid Loligo reynaudii

PubMed Central

Naud, Marie-Jose; Sauer, Warwick H. H.; McKeown, Niall J.; Shaw, Paul W.

2016-01-01

Polyandry is widespread and influences patterns of sexual selection, with implications for sexual conflict over mating. Assessing sperm precedence patterns is a first step towards understanding sperm competition within a female and elucidating the roles of male- and female-controlled factors. In this study behavioural field data and genetic data were combined to investigate polyandry in the chokka squid Loligo reynaudii. Microsatellite DNA-based paternity analysis revealed multiple paternity to be the norm, with 79% of broods sired by at least two males. Genetic data also determined that the male who was guarding the female at the moment of sampling was a sire in 81% of the families tested, highlighting mate guarding as a successful male tactic with postcopulatory benefits linked to sperm deposition site giving privileged access to extruded egg strings. As females lay multiple eggs in capsules (egg strings) wherein their position is not altered during maturation it is possible to describe the spatial / temporal sequence of fertilisation / sperm precedence There were four different patterns of fertilisation found among the tested egg strings: 1) unique sire; 2) dominant sire, with one or more rare sires; 3) randomly mixed paternity (two or more sires); and 4) a distinct switch in paternity occurring along the egg string. The latter pattern cannot be explained by a random use of stored sperm, and suggests postcopulatory female sperm choice. Collectively the data indicate multiple levels of male- and female-controlled influences on sperm precedence, and highlights squid as interesting models to study the interplay between sexual and natural selection. PMID:26872354

Paternal and maternal alcohol consumption: effects on offspring in two strains of rats.

PubMed

Abel, E L

1989-08-01

Long-Evans and Sprague-Dawley male rats were given liquid alcohol diets containing 35%, 17.5%, or 0% ethanol-derived calories (EDC). The latter two groups were pair fed to the higher alcohol diet group. A fourth group received lab chow and water ad libitum to assess the role of paternal undernutrition associated with alcohol consumption. After three or four weeks of diet consumption, these males were bred to females of the same strain. Pregnant females were divided into similarly treated alcohol groups and were fed these diets beginning on gestation Day 8, thus creating a factorial study with strain, paternal, and maternal alcohol consumption as main factors. Paternal alcohol consumption was associated with decreased litter size, decreased testosterone levels, and a strain-related effect on offspring activity. Offspring activity decreased for those sired by 35% and 17.5% EDC Long-Evans fathers. Activity also decreased for offspring sired by 17.5% EDC Sprague-Dawley fathers but increased for those sired by 35% EDC fathers. Paternal alcohol consumption did not affect postnatal mortality or passive avoidance learning of offspring. Maternal alcohol consumption was associated with lower birth weights, lower offspring weights at weaning, increased postnatal mortality, and poorer passive avoidance learning. However, offspring activity was not affected. In a separate study, levels of alcohol in the testes were found to be somewhat, but not significantly, lower than blood alcohol levels. DNA taken from sperm of Long-Evans males consuming alcohol, migrated farther under pulsed field electrophoresis than DNA from control fathers, suggestive of an alcohol-related effect on sperm DNA.

Grand-paternal age and the development of autism-like symptoms in mice progeny

PubMed Central

Sampino, S; Juszczak, G R; Zacchini, F; Swiergiel, A H; Modlinski, J A; Loi, P; Ptak, G E

2014-01-01

Advanced paternal age (APA) contributes to the risk of autism spectrum disorders (ASDs) in children. In this study, we used a mouse model to investigate the effects of APA on behavioral features related to autistic syndromes (that is, social deficits, communication impairments and stereotypic/repetitive behaviors). We also examined whether such effects are transmitted across generations. To do this, males aged 15 months (APA) and 4 months (control) were bred with 4-month-old females, and the resulting offspring (F1) and their progeny (F2; conceived by 4-month-old parents) were tested for the presence and severity of ASD-like behaviors. Our results indicate that APA resulted in offspring that displayed distinctive symptoms of ASD. We found that both F1 conceived from old fathers and F2 derived from old grandfathers displayed increased ultrasound vocalization (USV) activity, decreased sociability, increased grooming activity and increased anxiety-like responses. Moreover, such abnormalities were partially transmitted to the second generation of mice, having APA grandfathers. In conclusion, our study suggests that the risk of ASD could develop over generations, consistent with heritable mutations and/or epigenetic alterations associated with APA. PMID:24780920

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

PubMed

Stevenson, David A; Carey, John C; Cowley, Brett C; Bayrak-Toydemir, Pinar; Mao, Rong; Brothman, Arthur R

2004-12-01

We report a de novo cryptic 11p duplication found by genomic microarray with a cytogenetically detected 4p deletion. Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray.

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.

PubMed

Bliek, Jet; Alders, Marielle; Maas, Saskia M; Oostra, Roelof-Jan; Mackay, Deborah M; van der Lip, Karin; Callaway, Johnatan L; Brooks, Alice; van 't Padje, Sandra; Westerveld, Andries; Leschot, Nico J; Mannens, Marcel M A M

2009-12-01

The Beckwith-Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and for females. Here, we describe the molecular and phenotypic analysis of 12 BWS twins and a triplet; seven twins are MZ, monochorionic and diamniotic, three twins are MZ, dichorionic and diamniotic and three twins are dizygotic. Twelve twins are female. In the majority of the twin pairs (11 of 13), the defect on chromosome 11p15 was hypomethylation of the paternal allele of DMR2. In 5 of 10 twins, there was additional hypomethylation of imprinted loci; in most cases, the loci affected were maternally methylated, but in two cases, hypomethylation of the paternally methylated DLK1 and H19 DMRs was detected, a novel finding in BWS. In buccal swabs of the MZ twins who share a placenta, the defect was present only in the affected twin; comparable hypomethylation in lymphocytes was detected in both the twins. The level of hypomethylation reached levels below 25%. The exchange of blood cells through vascular connections cannot fully explain the degree of hypomethylation found in the blood cell of the non-affected twin. We propose an additional mechanism through which sharing of aberrant methylation patterns in discordant twins, limited to blood cells, might occur. In a BWS-discordant MZ triplet, an intermediate level of demethylation was found in one of the non-affected sibs; this child showed mild signs of BWS. This finding supports the theory that a methylation error proceeds and possibly triggers the twinning process.

Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain

PubMed Central

Brant, Jason O; Riva, Alberto; Resnick, James L; Yang, Thomas P

2014-01-01

Reduced representation bisulfite sequencing (RRBS) was used to analyze DNA methylation patterns across the mouse brain genome in mice carrying a deletion of the Prader-Willi syndrome imprinting center (PWS-IC) on either the maternally- or paternally-inherited chromosome. Within the ∼3.7 Mb imprinted Angelman/Prader-Willi syndrome (AS/PWS) domain, 254 CpG sites were interrogated for changes in methylation due to PWS-IC deletion. Paternally-inherited deletion of the PWS-IC increased methylation levels ∼2-fold at each CpG site (compared to wild-type controls) at differentially methylated regions (DMRs) associated with 5′ CpG island promoters of paternally-expressed genes; these methylation changes extended, to a variable degree, into the adjacent CpG island shores. Maternal PWS-IC deletion yielded little or no changes in methylation at these DMRs, and methylation of CpG sites outside of promoter DMRs also was unchanged upon maternal or paternal PWS-IC deletion. Using stringent ascertainment criteria, ∼750,000 additional CpG sites were also interrogated across the entire mouse genome. This analysis identified 26 loci outside of the imprinted AS/PWS domain showing altered DNA methylation levels of ≥25% upon PWS-IC deletion. Curiously, altered methylation at 9 of these loci was a consequence of maternal PWS-IC deletion (maternal PWS-IC deletion by itself is not known to be associated with a phenotype in either humans or mice), and 10 of these loci exhibited the same changes in methylation irrespective of the parental origin of the PWS-IC deletion. These results suggest that the PWS-IC may affect DNA methylation at these loci by directly interacting with them, or may affect methylation at these loci through indirect downstream effects due to PWS-IC deletion. They further suggest the PWS-IC may have a previously uncharacterized function outside of the imprinted AS/PWS domain. PMID:25482058

Paternal/maternal attachment, peer support, social expectations of peer interaction, and depressive symptoms.

PubMed

Liu, Yih-Lan

2006-01-01

The aim of this study was to investigate how paternal and maternal attachment might relate to adolescents' peer support, social expectations of peer interaction, and depressive symptoms; 1,144 8th graders in Taiwan participated in the study. The relationships were examined through a structural equating modeling. Consistent with theoretical formulations, adolescents with secure attachments to parents reported higher peer support, fewer negative expectations, and fewer depressive symptoms. Paternal and maternal attachment contribute almost equally to adolescents' social expectations of peer interaction and depressive symptoms. Attachment to the same-sex parent was related to adolescents' perceived peer support.

Maternal and paternal filicides: a retrospective review of filicides in Finland.

PubMed

Kauppi, Anne; Kumpulainen, Kirsti; Karkola, Kari; Vanamo, Tuija; Merikanto, Juhani

2010-01-01

The purpose of this retrospective study was to illustrate the differences in maternal and paternal filicides in Finland during a 25-year period. In the sample of 200 filicides [neonaticides (n = 56), filicide-suicides (n = 75), other filicides (n = 69)], the incidence was 5.09 deaths per 100,000 live births: 59 percent of filicides were committed by mothers, 39 percent by fathers, and 2 percent by stepfathers. The mean age of the maternal victims (1.6 y) was significantly lower than that of the paternal victims (5.6 y), but no correlation between the sex of the victim and the sex of the perpetrator was found, and the number of female and male victims was equal. The sample of other filicides (n = 65) was studied more closely by forensic psychiatric examination and review of collateral files. Filicidal mothers showed mental distress and often had psychosocial stressors of marital discord and lack of support. They often killed for altruistic reasons and in association with suicide. Maternal perpetrators also dominated in filicide cases in which death was caused by a single episode or recurrent episodes of battering. Psychosis and psychotic depression were diagnosed in 51 percent of the maternal perpetrators, and 76 percent of the mothers were deemed not responsible for their actions by reason of insanity. Paternal perpetrators, on the other hand, were jealous of their mates, had a personality disorder (67%), abused alcohol (45%), or were violent toward their mates. In 18 percent of the cases, they were not held responsible for their actions by reason of insanity. During childhood, most of the perpetrators had endured emotional abuse from their parents or guardians, some of whom also engaged in alcohol abuse and domestic violence. The purpose of this study was to examine the differences between maternal and paternal filicides in a sample of 200 cases in Finland. This report also provides a psychosocial profile of the perpetrator and victim in 65 filicides and a

Paternal Urinary Concentrations of Parabens and Other Phenols in Relation to Reproductive Outcomes among Couples from a Fertility Clinic

PubMed Central

Dodge, Laura E.; Williams, Paige L.; Williams, Michelle A.; Missmer, Stacey A.; Toth, Thomas L.; Calafat, Antonia M.

2015-01-01

Background Human exposure to phenols, including bisphenol A and parabens, is widespread. Evidence suggests that paternal exposure to environmental chemicals may adversely affect reproductive outcomes. Objectives We evaluated associations of paternal phenol urinary concentrations with fertilization rate, embryo quality, implantation, and live birth. Methods Male–female couples who underwent in vitro fertilization (IVF) and/or intrauterine insemination (IUI) cycles in a prospective study of environmental determinants of fertility and pregnancy outcomes were included. The geometric mean of males’ specific gravity–adjusted urinary phenol concentrations measured before females’ cycle was quantified. Associations between male urinary phenol concentrations and fertilization rate, embryo quality, implantation, and live birth were investigated using generalized linear mixed models to account for multiple cycles per couple. Results Couples (n = 218) underwent 195 IUI and 211 IVF cycles. Paternal phenol concentrations were not associated with fertilization or live birth following IVF. In adjusted models, compared with the lowest quartile of methyl paraben, paternal concentrations in the second quartile were associated with decreased odds of live birth following IUI (adjusted odds ratio = 0.19; 95% CI: 0.04, 0.82). Conclusions To our knowledge, these are some of the first data on the association of paternal urinary phenol concentrations with reproduction and pregnancy outcomes. Although these results do not preclude possible adverse effects of paternal paraben exposures on such outcomes, given the modest sample size, further understanding could result from confirmation using a larger and more diverse population. Citation Dodge LE, Williams PL, Williams MA, Missmer SA, Toth TL, Calafat AM, Hauser R. 2015. Paternal urinary concentrations of parabens and other phenols in relation to reproductive outcomes among couples from a fertility clinic. Environ Health Perspect 123

Racial discrepancies in the association between paternal vs. maternal educational level and risk of low birthweight in Washington State.

PubMed

Nicolaidis, Christina; Ko, Cynthia W; Saha, Somnath; Koepsell, Thomas D

2004-06-17

BACKGROUND: The role of paternal factors in determining the risk of adverse pregnancy outcomes has received less attention than maternal factors. Similarly, the interaction between the effects of race and socioeconomic status (SES) on pregnancy outcomes is not well known. Our objective was to assess the relative importance of paternal vs. maternal education in relation to risk of low birth weight (LBW) across different racial groups. METHODS: We conducted a retrospective population-based cohort study using Washington state birth certificate data from 1992 to 1996 (n = 264,789). We assessed the associations between maternal or paternal education and LBW, adjusting for demographic variables, health services factors, and maternal behavioral and obstetrical factors. RESULTS: Paternal educational level was independently associated with LBW after adjustment for race, maternal education, demographic characteristics, health services factors; and other maternal factors. We found an interaction between the race and maternal education on risk of LBW. In whites, maternal education was independently associated with LBW. However, in the remainder of the sample, maternal education had a minimal effect on LBW. CONCLUSIONS: The degree of association between maternal education and LBW delivery was different in whites than in members of other racial groups. Paternal education was associated with LBW in both whites and non-whites. Further studies are needed to understand why maternal education may impact pregnancy outcomes differently depending on race and why paternal education may play a more important role than maternal education in some racial categories.

Combined association of maternal and paternal family history of diabetes with plasma leptin and adiponectin in overweight Hispanic children.

PubMed

Koebnick, C; Kelly, L A; Lane, C J; Roberts, C K; Shaibi, G Q; Toledo-Corral, C M; Davis, J N; Weigensberg, M J; Goran, M I

2008-09-01

To investigate the importance of a maternal and paternal family history of Type 2 diabetes and their combined association with plasma leptin and adiponectin levels in overweight Latino children with a family history of Type 2 diabetes (T2DM). This cross-sectional study investigated the combined association of a maternal and paternal family history of T2DM with leptin and adiponectin in 175 overweight Latino children (age 11.1 +/- 1.7 years). All subjects had a family history of T2DM. Plasma adiponectin and leptin levels, body fat measured by dual-energy X-ray absorptiometry, Tanner stage, age and insulin sensitivity were assessed. After adjustment for age, gestational diabetes, insulin sensitivity and body fat, a combined maternal and paternal family history of T2DM was associated with higher leptin concentrations (P = 0.004) compared with a maternal or paternal family history alone. This association was most pronounced at Tanner stage 1 (P for interaction family history x tanner stage = 0.022). The presence of a combined maternal and paternal family history of T2DM accounted for 4% (P = 0.003) of the variation in leptin concentrations. No such combined association was observed for adiponectin levels. Maternal and paternal family history of T2DM may have an additive impact on leptin, but not on adiponectin levels independent of adiposity and insulin sensitivity in overweight Latino children. This may contribute to a further clinically relevant deterioration of metabolic health in this population.

Negative Effects of Paternal Age on Children's Neurocognitive Outcomes Can Be Explained by Maternal Education and Number of Siblings

PubMed Central

Edwards, Ryan D.; Roff, Jennifer

2010-01-01

Background Recent findings suggest advanced paternal age may be associated with impaired child outcomes, in particular, neurocognitive skills. Such patterns are worrisome given relatively universal trends in advanced countries toward delayed nuptiality and fertility. But nature and nurture are both important for child outcomes, and it is important to control for both when drawing inferences about either pathway. Methods and Findings We examined cross-sectional patterns in six developmental outcome measures among children in the U.S. Collaborative Perinatal Project (n = 31,346). Many of these outcomes at 8 mo, 4 y, and 7 y of age (Bayley scales, Stanford Binet Intelligence Scale, Graham-Ernhart Block Sort Test, Wechsler Intelligence Scale for Children, Wide Range Achievement Test) are negatively correlated with paternal age when important family characteristics such as maternal education and number of siblings are not included as covariates. But controlling for family characteristics in general and mother's education in particular renders the effect of paternal age statistically insignificant for most developmental measures. Conclusions Assortative mating produces interesting relationships between maternal and paternal characteristics that can inject spurious correlation into observational studies via omitted variable bias. Controlling for both nature and nurture reveals little residual evidence of a link between child neurocognitive outcomes and paternal age in these data. Results suggest that benefits associated with the upward trend in maternal education may offset any negative effects of advancing paternal age. PMID:20856853

Meiotic interstrand DNA damage escapes paternal repair and causes chromosomal aberrations in the zygote by maternal misrepair

DOE Office of Scientific and Technical Information (OSTI.GOV)

Marchetti, Francesco; Bishop, Jack; Gingerich, John

De novo point mutations and chromosomal structural aberrations (CSA) detected in offspring of unaffected parents show a preferential paternal origin with higher risk for older fathers. Studies in rodents suggest that heritable mutations transmitted from the father can arise from either paternal or maternal misrepair of damaged paternal DNA, and that the entire spermatogenic cycle can be at risk after mutagenic exposure. Understanding the susceptibility and mechanisms of transmission of paternal mutations is important in family planning after chemotherapy and donor selection for assisted reproduction. We report that treatment of male mice with melphalan (MLP), a bifunctional alkylating agent widelymore » used in chemotherapy, induces DNA lesions during male mouse meiosis that persist unrepaired as germ cells progress through DNA repair-competent phases of spermatogenic development. After fertilization, unrepaired sperm DNA lesions are mis-repaired into CSA by the egg's DNA repair machinery producing chromosomally abnormal offspring. In conclusion, these findings highlight the importance of both pre- and post-fertilization DNA repair in assuring the genomic integrity of the conceptus.« less

Meiotic interstrand DNA damage escapes paternal repair and causes chromosomal aberrations in the zygote by maternal misrepair

DOE PAGES

Marchetti, Francesco; Bishop, Jack; Gingerich, John; ...

2015-01-08

De novo point mutations and chromosomal structural aberrations (CSA) detected in offspring of unaffected parents show a preferential paternal origin with higher risk for older fathers. Studies in rodents suggest that heritable mutations transmitted from the father can arise from either paternal or maternal misrepair of damaged paternal DNA, and that the entire spermatogenic cycle can be at risk after mutagenic exposure. Understanding the susceptibility and mechanisms of transmission of paternal mutations is important in family planning after chemotherapy and donor selection for assisted reproduction. We report that treatment of male mice with melphalan (MLP), a bifunctional alkylating agent widelymore » used in chemotherapy, induces DNA lesions during male mouse meiosis that persist unrepaired as germ cells progress through DNA repair-competent phases of spermatogenic development. After fertilization, unrepaired sperm DNA lesions are mis-repaired into CSA by the egg's DNA repair machinery producing chromosomally abnormal offspring. In conclusion, these findings highlight the importance of both pre- and post-fertilization DNA repair in assuring the genomic integrity of the conceptus.« less

[Neuropsychiatric aspects of Prader-Willi syndrome – a review].

PubMed

Briegel, Wolfgang

2018-05-01

Prader-Willi Syndrome (PWS) is caused by the absence of paternal expression of imprinted genes in the region at 15q11–q13. With an estimated birth incidence of 1/15 000 – 1/30 000, PWS is one of the more frequent genetic syndromes among humans. Typical physical features include neonatal hypotonia and feeding problems, hypogonadism, hyperphagia in later childhood with consecutive obesity, and short stature. Most people with PWS show a mild to moderate intellectual disability. Furthermore, lability of mood, temper tantrums, skin-picking, and compulsive behaviors are quite typical for subjects with PWS. Psychotic disorders have also been found to be quite common in adulthood. This manuscript reviews current knowledge about the etiology, physical features, developmental aspects, behavioral phenotype, and psychiatric disorders that occur as well as existing psychopharmacological and psychotherapeutic interventions.

Counseling Sexual Assault Victims Who Become Pregnant after the Assault: Benefits and Limitations of First-Trimester Paternity Determination.

ERIC Educational Resources Information Center

Shulman, Lee P.; And Others

1992-01-01

Describes a patient with a history of infertility who, after becoming pregnant following a sexual assault, used chorionic villus sampling and DNA studies for paternity identification. Discusses risks and potential problems that accompany prenatal paternity testing. Ethical, moral, emotional, and religious factors should be considered in the…

Impact of a chromosome X STR Decaplex in deficiency paternity cases.

PubMed

Trindade-Filho, Aluisio; Ferreira, Samuel; Oliveira, Silviene F

2013-12-01

Deficiency paternity cases, characterized by the absence of the alleged father, are a challenge for forensic genetics. Here we present four cases with a female child and a deceased alleged father in which the analysis of a set of 21 or 22 autosomal STRs (AS STRs) produced results within a range of doubt when genotyping relatives of the alleged father. Aiming to increase the Paternity Index (PI) and obtain more reliable results, a set of 10 X-linked STR markers, developed by the Spanish and Portuguese Group of the International Society for Forensic Genetics (ISFG), was then added. Statistical analysis substantially shifted the results towards the alleged fatherhood in all four cases, with more dramatic changes when the supposed half-sister and respective mother were the relatives tested.

Impact of a chromosome X STR Decaplex in deficiency paternity cases

PubMed Central

Trindade-Filho, Aluisio; Ferreira, Samuel; Oliveira, Silviene F.

2013-01-01

Deficiency paternity cases, characterized by the absence of the alleged father, are a challenge for forensic genetics. Here we present four cases with a female child and a deceased alleged father in which the analysis of a set of 21 or 22 autosomal STRs (AS STRs) produced results within a range of doubt when genotyping relatives of the alleged father. Aiming to increase the Paternity Index (PI) and obtain more reliable results, a set of 10 X-linked STR markers, developed by the Spanish and Portuguese Group of the International Society for Forensic Genetics (ISFG), was then added. Statistical analysis substantially shifted the results towards the alleged fatherhood in all four cases, with more dramatic changes when the supposed half-sister and respective mother were the relatives tested. PMID:24385853

Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.

PubMed

Sattler, E C; Steinlein, O K

2018-03-16

Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20-40 years, but decreases markedly after this age range and first-time pneumothorax after age 50 years is rare. Fibrofolliculomas usually occur between ages 35 and 45 years, while the risk for kidney cancer increases steadily with age, starting in young adulthood. However, we demonstrate here that within the same family patients might develop symptoms significantly before or after the usual age range, obscuring the typical clinical pattern and delaying diagnosis. The 43 year old index patient had a history of lung bullae and recurrent pneumothoraces starting 14 years earlier. His father (age 83 years) and one of the paternal uncles experienced their first pneumothorax unusually late after the age of 60 years. The uncle subsequently had four more pneumothoraces, and was diagnosed with kidney in his early 70s. Considerable differences in age of onset were also observed with regard to facial fibrofolliculomas that both paternal uncles developed very early around age 20 years, but which the father only started to show in his eighth decade. Birt-Hogg-Dubé syndrome was finally diagnosed when the index patient started to develop fibrofolliculomas within the typical age range. The family described here illustrates that Birt-Hogg-Dubé syndrome can be difficult to recognize, if presenting with considerable intrafamilial clinical variability. With a life-time kidney cancer risk of about 14-35% the consequences of delayed diagnosis might be grave for the affected family members. The possibility of Birt-Hogg-Dubé syndrome should therefore be taken into consideration in apparently sporadic patients presenting with lung bullae and pneumothorax.

Untreated perinatal paternal depression: Effects on offspring.

PubMed

Gentile, Salvatore; Fusco, Maria Luigia

2017-06-01

Transition to parenthood represents an important life event which increases vulnerability to psychological disorders. Aim of this article is to analyze all studies which investigated the effects of untreated perinatal paternal depression in offspring. We searched pertinent, peer-reviewed articles published in English (January 1980 to April 2016) on MEDLINE, PsycINFO, and Science.gov. Twenty-three studies met the inclusion criteria. Most of the reviewed studies suffer from methodological limitations, including the small sample, the lack of a structured psychiatric diagnosis, and inclusion bias. Despite such limitations, paternal depression seems to be associated with an increased risk of developmental and behavioural problems and even psychiatric disorders in offspring. In particular, in infants and toddlers such problems vary from increased crying to hyperactivity and conduct problems to psychological and developmental impairment, and poor social outcomes. School-age children of depressed fathers have a doubled risk for suffering from specific psychiatric disorders. Hence, facilitating access to vigorous and evidence based treatments is a public health opportunity for improving the quality of life of depressed parents and their children. Evidences emerging from this review actually suggest that the traditional gender-focused approach to perinatal mood disorders should be completed by a family-centred approach, in order to improve the effectiveness of perinatal mental health programs. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Prader-Willi syndrome: a case report with atypical developmental features.

PubMed

Sewaybricker, Letícia E; Guaragna-Filho, Guilherme; Paula, Georgette B; Andrade, Juliana G R; Tincani, Bruna J; D'Souza-Li, Lília; Lemos-Marini, Sofia H V; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil

2014-09-01

To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features. We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin. PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.

Father Involvement, Paternal Sensitivity, and Father-Child Attachment Security in the First Three Years

PubMed Central

Brown, Geoffrey L.; Mangelsdorf, Sarah C.; Neff, Cynthia

2014-01-01

To reach a greater understanding of the early father-child attachment relationship, this study examined concurrent and longitudinal associations among father involvement, paternal sensitivity, and father-child attachment security at 13 months and 3 years of age. Analyses revealed few associations among these variables at 13 months of age, but involvement and sensitivity independently predicted father-child attachment security at age 3. Moreover, sensitivity moderated the association between involvement and attachment security at 3 years. Specifically, involvement was unrelated to attachment security when fathers were highly sensitive, but positively related to attachment security when fathers were relatively less sensitive. Father involvement was also moderately stable across the two timepoints, but paternal sensitivity was not. Furthermore, there was significant stability in father-child attachment security from 13 months to 3 years. Secure attachment at 13 months also predicted greater levels of paternal sensitivity at 3 years, with sensitivity at age 3 mediating the association between 13 month and 3 year attachment security. In sum, a secure father-child attachment relationship a) was related to both quantity and quality of fathering behavior, b) remained relatively stable across early childhood, and c) predicted increased paternal sensitivity over time. These findings further our understanding of the correlates of early father-child attachment, and underscore the need to consider multiple domains of fathers’ parenting and reciprocal relations between fathering behavior and father-child attachment security. PMID:22468691

Father involvement, paternal sensitivity, and father-child attachment security in the first 3 years.

PubMed

Brown, Geoffrey L; Mangelsdorf, Sarah C; Neff, Cynthia

2012-06-01

To reach a greater understanding of the early father-child attachment relationship, this study examined concurrent and longitudinal associations among father involvement, paternal sensitivity, and father-child attachment security at 13 months and 3 years of age. Analyses revealed few associations among these variables at 13 months of age, but involvement and sensitivity independently predicted father-child attachment security at age 3. Moreover, sensitivity moderated the association between involvement and attachment security at 3 years. Specifically, involvement was unrelated to attachment security when fathers were highly sensitive, but positively related to attachment security when fathers were relatively less sensitive. Father involvement was also moderately stable across the two time points, but paternal sensitivity was not. Furthermore, there was significant stability in father-child attachment security from 13 months to 3 years. Secure attachment at 13 months also predicted greater levels of paternal sensitivity at 3 years, with sensitivity at age 3 mediating the association between 13 month and 3 year attachment security. In sum, a secure father-child attachment relationship (a) was related to both quantity and quality of fathering behavior, (b) remained relatively stable across early childhood, and (c) predicted increased paternal sensitivity over time. These findings further our understanding of the correlates of early father-child attachment, and underscore the need to consider multiple domains of fathers' parenting and reciprocal relations between fathering behavior and father-child attachment security. PsycINFO Database Record (c) 2012 APA, all rights reserved.

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

PubMed Central

Delio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M.; Zackai, Elaine; Herman, Sean; Kaminetzky, Mark; Higgins, Anne Marie; Coleman, Karlene; Chow, Carolyn; Jarlbrzkowski, Maria; Bearden, Carrie E.; Bailey, Alice; Vangkilde, Anders; Olsen, Line; Olesen, Charlotte; Skovby, Flemming; Werge, Thomas M.; Templin, Ludivine; Busa, Tiffany; Philip, Nicole; Swillen, Ann; Vermeesch, Joris R.; Devriendt, Koen; Schneider, Maude; Dahoun, Sophie; Eliez, Stephan; Schoch, Kelly; Hooper, Stephen R.; Shashi, Vandana; Samanich, Joy; Marion, Robert; van Amelsvoort, Therese; Boot, Erik; Klaassen, Petra; Duijff, Sasja N.; Vorstman, Jacob; Yuen, Tracy; Silversides, Candice; Chow, Eva; Bassett, Anne; Frisch, Amos; Weizman, Abraham; Gothelf, Doron; Niarchou, Maria; van den Bree, Marianne; Owen, Michael J.; Suñer, Damian Heine; Andreo, Jordi Rosell; Armando, Marco; Vicari, Stefano; Digilio, Maria Cristina; Auton, Adam; Kates, Wendy R.; Wang, Tao; Shprintzen, Robert J.; Emanuel, Beverly S.; Morrow, Bernice E.

2013-01-01

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6–1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin. PMID:23453669

Paternal genetic affinity between western Austronesians and Daic populations

PubMed Central

2008-01-01

Background Austronesian is a linguistic family spread in most areas of the Southeast Asia, the Pacific Ocean, and the Indian Ocean. Based on their linguistic similarity, this linguistic family included Malayo-Polynesians and Taiwan aborigines. The linguistic similarity also led to the controversial hypothesis that Taiwan is the homeland of all the Malayo-Polynesians, a hypothesis that has been debated by ethnologists, linguists, archaeologists, and geneticists. It is well accepted that the Eastern Austronesians (Micronesians and Polynesians) derived from the Western Austronesians (Island Southeast Asians and Taiwanese), and that the Daic populations on the mainland are supposed to be the headstream of all the Austronesian populations. Results In this report, we studied 20 SNPs and 7 STRs in the non-recombining region of the 1,509 Y chromosomes from 30 China Daic populations, 23 Indonesian and Vietnam Malayo-Polynesian populations, and 11 Taiwan aboriginal populations. These three groups show many resemblances in paternal lineages. Admixture analyses demonstrated that the Daic populations are hardly influenced by Han Chinese genetically, and that they make up the largest proportion of Indonesians. Most of the population samples contain a high frequency of haplogroup O1a-M119, which is nearly absent in other ethnic families. The STR network of haplogroup O1a* illustrated that Indonesian lineages did not derive from Taiwan aborigines as linguistic studies suggest, but from Daic populations. Conclusion We show that, in contrast to the Taiwan homeland hypothesis, the Island Southeast Asians do not have a Taiwan origin based on their paternal lineages. Furthermore, we show that both Taiwan aborigines and Indonesians likely derived from the Daic populations based on their paternal lineages. These two populations seem to have evolved independently of each other. Our results indicate that a super-phylum, which includes Taiwan aborigines, Daic, and Malayo-Polynesians, is

Paternal occupational lead exposure and offspring risks for schizophrenia.

PubMed

Sallmén, Markku; Suvisaari, Jaana; Lindbohm, Marja-Liisa; Malaspina, Dolores; Opler, Mark G

2016-10-01

This register-based cohort study investigated whether paternal occupational exposure to inorganic lead was related to offspring risk for schizophrenia spectrum disorder (SSD). Exposed men (n=11,863) were identified from blood lead measurements taken at the Finnish Institute of Occupational Health in 1973-1983. Data on mothers and their offspring born from 1972-1984 were obtained from the national Population Information System. Two population comparison offspring for each exposed offspring were matched on date of birth, sex and area (n=23,720). SSD cases were identified from The Finnish Hospital Discharge Register. Hazard ratios of SSD between exposed groups were analyzed using conditional proportional hazards regression, adjusted for parental history of psychoses, parental ages, language of offspring, father's employment, and father's self-employment. After 26-38years of follow up, there were no significant differences in the incidence of schizophrenia, either between the offspring of exposed (188/11,863; 1.6%) and unexposed fathers (347/23,720; 1.5%) or based on blood lead levels (adjusted hazard ratios (aHR): 0.97, CI 0.52-1.83, 1.25, CI 0.85-1.82, 0.90, CI 0.54-1.49, and 1.38, CI 0.65-2.92 for lead categories <0.5, 0.5-0.9, 1.0-1.4, and ≥1.5μmol/L, respectively, as compared to population comparison). Parental psychosis, paternal age and offspring language were associated with offspring risk. The findings suggest that paternal exposure to lead is not a risk factor for schizophrenia in offspring. However, the majority of exposed fathers had low-level exposure, and we cannot exclude the possibility of an effect for higher exposures to lead. Copyright © 2016 Elsevier B.V. All rights reserved.

Paternal genetic affinity between Western Austronesians and Daic populations.

PubMed

Li, Hui; Wen, Bo; Chen, Shu-Juo; Su, Bing; Pramoonjago, Patcharin; Liu, Yangfan; Pan, Shangling; Qin, Zhendong; Liu, Wenhong; Cheng, Xu; Yang, Ningning; Li, Xin; Tran, Dinhbinh; Lu, Daru; Hsu, Mu-Tsu; Deka, Ranjan; Marzuki, Sangkot; Tan, Chia-Chen; Jin, Li

2008-05-15

Austronesian is a linguistic family spread in most areas of the Southeast Asia, the Pacific Ocean, and the Indian Ocean. Based on their linguistic similarity, this linguistic family included Malayo-Polynesians and Taiwan aborigines. The linguistic similarity also led to the controversial hypothesis that Taiwan is the homeland of all the Malayo-Polynesians, a hypothesis that has been debated by ethnologists, linguists, archaeologists, and geneticists. It is well accepted that the Eastern Austronesians (Micronesians and Polynesians) derived from the Western Austronesians (Island Southeast Asians and Taiwanese), and that the Daic populations on the mainland are supposed to be the headstream of all the Austronesian populations. In this report, we studied 20 SNPs and 7 STRs in the non-recombining region of the 1,509 Y chromosomes from 30 China Daic populations, 23 Indonesian and Vietnam Malayo-Polynesian populations, and 11 Taiwan aboriginal populations. These three groups show many resemblances in paternal lineages. Admixture analyses demonstrated that the Daic populations are hardly influenced by Han Chinese genetically, and that they make up the largest proportion of Indonesians. Most of the population samples contain a high frequency of haplogroup O1a-M119, which is nearly absent in other ethnic families. The STR network of haplogroup O1a* illustrated that Indonesian lineages did not derive from Taiwan aborigines as linguistic studies suggest, but from Daic populations. We show that, in contrast to the Taiwan homeland hypothesis, the Island Southeast Asians do not have a Taiwan origin based on their paternal lineages. Furthermore, we show that both Taiwan aborigines and Indonesians likely derived from the Daic populations based on their paternal lineages. These two populations seem to have evolved independently of each other. Our results indicate that a super-phylum, which includes Taiwan aborigines, Daic, and Malayo-Polynesians, is genetically educible.

Paternal Involvement and Child Sleep: A Look beyond Infancy

ERIC Educational Resources Information Center

Bernier, Annie; Tétreault, Émilie; Bélanger, Marie-Ève; Carrier, Julie

2017-01-01

While maternal influences on young children's sleep are increasingly documented, the study of paternal contributions to this important sphere of child functioning is only just beginning. In addition, much of this emerging research has focused on infancy only or has relied on parental reports of child sleep. The current study aimed to examine the…

The association of parental education with childhood undernutrition in low- and middle-income countries: comparing the role of paternal and maternal education

PubMed Central

Vollmer, Sebastian; Bommer, Christian; Krishna, Aditi; Harttgen, Kenneth; Subramanian, SV

2017-01-01

Abstract Background: Most existing research on the association of parental education with childhood undernutrition focuses on maternal education and often ignores paternal education. We systematically investigate differences in maternal and paternal education and their association with childhood undernutrition. Methods: One hundred and eighty Demographic and Health Surveys from 62 countries performed between 1990 and 2014 were analysed. We used linear-probability models to predict childhood undernutrition prevalences, measured as stunting, underweight and wasting, for all combinations of maternal and paternal attainment in school. Models were adjusted for demographic and socio-economic covariates for the child, mother and household, country-level fixed effects and clustering. Additional specifications adjust for local area characteristics instead of country fixed effects. Results: Both higher maternal and paternal education levels are associated with lower childhood undernutrition. In regressions adjusted for child age and sex as well as country-level fixed effects, the association is stronger for maternal education than for paternal education when their combined level of education is held constant. In the fully adjusted models, the observed differences in predicted undernutrition prevalences are strongly attenuated, suggesting a similar importance of maternal and paternal education. These findings are confirmed by the analysis of composite schooling indicators. Conclusions: We find that paternal education is similarly important for reducing childhood undernutrition as maternal education and should therefore receive increased attention in the literature. PMID:27501820

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

DOE Office of Scientific and Technical Information (OSTI.GOV)

Greger, V.; Knoll, J.H.M.; Wagstaff, J.

1997-03-01

Angelman syndrome (AS) most frequently results from large ({ge}5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the absence of a maternal contribution to the imprinted 15q11-q13 region. Failure to inherit a paternal 15q11-q13 contribution results in the clinically distinct disorder of Prader-Willi syndrome. Cases of AS resulting from translocations or pericentric inversions have been observed to be associated with deletions, and there have been no confirmed reports of balanced rearrangementsmore » in AS. We report the first such case involving a paracentric inversion with a breakpoint located {approximately}25 kb proximal to the reference marker D15S10. This inversion has been inherited from a phenotypically normal mother. No deletion is evident by molecular analysis in this case, by use of cloned fragments mapped to within {approximately}1 kb of the inversion breakpoint. Several hypotheses are discussed to explain the relationship between the inversion and the AS phenotype. 47 refs., 3 figs.« less

Maternal and paternal factors associated with congenital syphilis in Shenzhen, China: a prospective cohort study.

PubMed

Qin, J-B; Feng, T-J; Yang, T-B; Hong, F-C; Lan, L-N; Zhang, C-L

2014-02-01

Maternal and paternal factors create considerable obstacles to the elimination of congenital syphilis (CS). A clear understanding of maternal and paternal factors is important in order to define interventions in every community. This study aimed to investigate the maternal and paternal factors associated with CS. A prospective cohort study was conducted from April 25, 2007 to October 31, 2012 at the Shenzhen Center for Chronic Disease Control and Prevention (SCCDC) in China. We screened 279,334 pregnant women and identified 838 women with syphilis. Finally, a total of 360 women with syphilis were included for analysis. At the end of follow-up, 34 infants [9.4 %, 95 % confidence interval (CI): 6.8-12.9 %] were diagnosed with CS. Following adjustment for confounders, maternal history of syphilis [adjusted risk ratio (aRR) = 0.21], prenatal care (aRR = 0.12), and complete treatment (aRR = 0.22) reduced the risk of infants being infected. Every two-fold increase of titer of non-treponemal antibodies (aRR = 1.88), early stage of syphilis (aRR = 9.59), a shorter length of time between the end of the first treatment to childbirth (aRR = 5.39), and every week of delay in treatment (aRR = 2.25) for maternal syphilis as well as paternal history of cocaine use (aRR = 6.28) and positive (aRR = 3.30) or unknown (aRR = 2.79) status of syphilis increased the risk of infants being infected. CS also increased the risk (aRR = 8.02) of neonatal death. Maternal and paternal factors constituted two separate profiles associated with CS. To become more effective, future strategies for the prevention of CS should be targeted to each profile.

[Fathers of first infants--preparatory courses about delivery, experience of delivery and paternity leave].

PubMed

Aagaard, J; Dueholm, M; Nielsen, K T; Wiese, J; Strand, J E; Jangaard, J K

1989-05-22

In the Central Hospital in Randers, 233 fathers of first infants replied to a questionnaire which illustrated their attitudes to the preparatory courses about delivery, experience of delivery and attitudes to paternity leave. 65% of the fathers participated in the course and 74% stated that they considered that this had been profitable. Where 77% of the men were concerned, these considered that participation in delivery had been a positive experience. 73% of the men had planned paternity leave around the time of delivery, which emphasizes the need for this arrangement.

The influence of fathers' socioeconomic status and paternity leave on breastfeeding duration: a population-based cohort study.

PubMed

Flacking, Renée; Dykes, Fiona; Ewald, Uwe

2010-06-01

The propensity to breastfeed is a matter of public concern because of the favourable effects for infants. However, very few studies have described the influence of paternal variables upon duration of breastfeeding. The aim of this study was to describe the effects of fathers' socioeconomic status and their use of paternity leave on breastfeeding duration for infants up to 1 year of age. A prospective population-based cohort study was undertaken. Data on breastfeeding, registered in databases in two Swedish counties for 1993-2001, were matched with data on socioeconomic status and paternity leave obtained from Statistics Sweden. Fathers of 51,671 infants were identified and included. Infants whose fathers had a lower level of education, were receiving unemployment benefit and/or had a lower equivalent disposable household income were significantly less likely to be breastfed at 2, 4, 6, 9, and 12 months of age. Infants whose fathers did not take paternity leave during the infant's first year were significantly less likely to be breastfed at 2 (p < 0.001), 4 (p < 0.001), and 6 months (p < 0.001). This paper shows that an enabling of an increased involvement from fathers during the infants' first year of life, such as by paid paternity leave, may have beneficial effects on breastfeeding up to 6 months of age. A more systematic approach to supporting fathers' involvement may be particularly valuable to those infants whose fathers have a lower socioeconomic status.

Demons syndrome revisited: a review of the literature.

PubMed

Brun, Jean-Luc

2007-06-01

To report various descriptions of the combination of a benign genital tumour with pleural and/or abdominal effusion throughout the years and to determine the paternity of this syndrome, commonly known as Meigs' syndrome. A systematic review of the literature from 1728 to 2004. Before 1880, publications were rare and limited to clinical and anatomical descriptions drawing no conclusions between the cause and effect of this condition and even less about its management. Demons described the syndrome between 1887 and 1902. He was the first to specify that removal of the tumour (benign ovarian cyst, solid ovarian tumour, fibroma of the broad ligament) was essential for the patient to be cured of the effusions and that it was wrong to postpone surgery. In 1937, Meigs arrived at the same findings concerning ovarian fibromas and granulosa cell tumours, hence the name of Demons-Meigs which was given to this syndrome with the agreement of Meigs. Current literature reports on pseudosyndromes of Demons-Meigs including genital malignancies with negative cytology. These entities should not be called Demons or Meigs pseudosyndromes. Inversely, all benign tumours of the genital tract should be included in Demons syndrome, even if Demons did not actually encounter any during his years of practice, but it was in the spirit of his observations. Demons' syndrome includes all benign genital tumours, the Demons-Meigs eponym is reserved for the description of ovarian fibromas and granulosa cell tumours, and the Demons' pseudosyndrome includes all other entities.

Personal and couple level risk factors: Maternal and paternal parent-child aggression risk.

PubMed

Tucker, Meagan C; Rodriguez, Christina M; Baker, Levi R

2017-07-01

Previous literature examining parent-child aggression (PCA) risk has relied heavily upon mothers, limiting our understanding of paternal risk factors. Moreover, the extent to which factors in the couple relationship work in tandem with personal vulnerabilities to impact PCA risk is unclear. The current study examined whether personal stress and distress predicted PCA risk (child abuse potential, over-reactive discipline style, harsh discipline practices) for fathers as well as mothers and whether couple functioning mediated versus moderated the relation between personal stress and PCA risk in a sample of 81 couples. Additionally, the potential for risk factors in one partner to cross over and affect their partner's PCA risk was considered. Findings indicated higher personal stress predicted elevated maternal and paternal PCA risk. Better couple functioning did not moderate this relationship but partially mediated stress and PCA risk for both mothers and fathers. In addition, maternal stress evidenced a cross-over effect, wherein mothers' personal stress linked to fathers' couple functioning. Findings support the role of stress and couple functioning in maternal and paternal PCA risk, including potential cross-over effects that warrant further inquiry. Copyright © 2017 Elsevier Ltd. All rights reserved.

Reinvestigations of six unusual paternity cases by typing of autosomal single-nucleotide polymorphisms.

PubMed

Børsting, Claus; Morling, Niels

2012-02-01

In some relationship cases, the initial investigations of autosomal short tandem repeats (STRs) lead to an ambiguous conclusion and supplementary investigations become necessary. Six unusual paternity cases were previously investigated by other researchers and published as case work examples in forensic journals. Here, the cases were reinvestigated by typing the samples for 49 autosomal single-nucleotide polymorphisms (SNPs) using the SNPforID multiplex assay. Three cases were solved by the SNP investigation without the need for any additional testing. In two cases, the SNP results supported the conclusions based on STRs. In the last case, the SNP results spoke in favor of paternity, and the combined paternity index based on autosomal STRs and SNPs was 12.3 billion. Nevertheless, the alleged father was excluded by X-chromosome typing. The case work examples underline the importance of performing supplementary investigations, and they advocate for the implementation of several panels that may be used in the highly unusual cases. Panels with SNPs or other markers with low mutation probabilities are preferable as supplementary markers, because the risk of detecting (additional) mutations is very low. © 2012 American Association of Blood Banks.

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

PubMed

Hackmann, Karl; Stadler, Anja; Schallner, Jens; Franke, Kathlen; Gerlach, Eva-Maria; Schrock, Evelin; Rump, Andreas; Fauth, Christine; Tinschert, Sigrid; Oexle, Konrad

2013-12-01

We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3-4, feet 2-3), joint laxity, and short stature. The triplication resulted from the unusual combination of a terminal duplication at 17qter and a cryptic translocation of an extra copy of the same segment onto chromosome 10qter. The breakpoint at 17q25.3 was located within the FOXK2 gene. SNP chip analysis suggested that the rearrangement occurred during paternal meiosis involving both paternal chromosomes 17. © 2013 Wiley Periodicals, Inc.

Applying Pleck's Model of Paternal Involvement to the Study of Preschool Attachment Quality: A Proof of Concept Study

ERIC Educational Resources Information Center

Kennedy, Mark; Betts, Lucy; Dunn, Thomas; Sonuga-Barke, Edmund; Underwood, Jean

2015-01-01

Recent re-conceptualisation of paternal involvement (Pleck, J. H. (2010). Paternal involvement: Revised conceptualization and theoretical linkages with child outcomes. In M. Lamb (Ed.), "The role of the father in child development" (5th ed., pp. 67-107). London: Wiley), while proving fruitful, has yet to be applied to investigations into…

An Examination of Paternal Influence on High-Achieving Gifted Males

ERIC Educational Resources Information Center

Hebert, Thomas P.; Pagnani, Alexander R.; Hammond, Daniel R.

2009-01-01

The challenges facing contemporary boys are complex, highlighting the importance of positive paternal influence for young men to achieve success. This study examines the father-son relationships of 10 prominent gifted men of achievement to identify factors influencing talent development. Through biographical analysis, 6 significant themes were…

Paternal overprotection in obsessive-compulsive disorder and depression with obsessive traits.

PubMed

Yoshida, Takafumi; Taga, Chiaki; Matsumoto, Yoshitake; Fukui, Kenji

2005-10-01

Previous studies have indicated that a parental rearing style showing a low level of care on the parental bonding instrument (PBI) is a risk factor for depression, and that there is a relationship between the overprotective rearing style on the PBI and obsessive-compulsive disorder (OCD). However, there is no study on the parental rearing attitudes in depressive patients divided into two groups based on their obsessive traits. In this study, we evaluated the parental rearing attitudes and examined the differences among four groups: depressive patients with severe obsessive traits, depressive patients with mild obsessive traits, OCD patients, and healthy volunteers. We divided the depressive patients into severe and mild groups based on their obsessive traits on the Mausdley Obsessional-Compulsive Inventory (MOCI). We compared PBI scores among four groups of 50 subjects matched for age and sex: depressive patients with severe obsessive traits, depressive patients with mild obsessive traits, OCD patients, and healthy volunteers. The paternal protection scores in the depressive patients with severely obsessive traits and the OCD patients were significantly higher than those in the depressive patients with mildly obsessive traits and healthy volunteers. This study indicated that the depressive patients with severe obsessive traits and the OCD patients have similar paternal controlling and interfering rearing attitudes. We conclude that the paternal controlling and interfering rearing attitudes are linked to the development of OCD and depression with obsessive traits, and are not linked to the development of depression itself.

Three hundred years of low non-paternity in a human population.

PubMed

Greeff, J M; Erasmus, J C

2015-11-01

When cuckoldry is frequent we can expect fathers to withhold investment in offspring that may not be theirs. Human paternal investment can be substantial and is in line with observations from tens of thousands of conceptions that suggest that cuckoldry is rare in humans. The generality of this claim seems to be in question as the rate of cuckoldry varies across populations and studies have mostly been on Western populations. Two additional factors complicate our conclusions, (1) current estimates of the rate of cuckoldry in humans may not reflect our past behaviour as adultery can be concealed by the use of contraceptives; and (2) it is difficult to obtain samples that are random with respect to their paternity certainty. Studies that combine genealogies with Y-chromosome haplotyping are able to circumvent some of these problems by probing into humans' historical behaviour. Here we use this approach to investigate 1273 conceptions over a period of 330 years in 23 families of the Afrikaner population in South Africa. We use haplotype frequency and diversity and coalescent simulations to show that the male population did not undergo a severe bottleneck and that paternity exclusion rates are high for this population. The rate of cuckoldry in this Western population was 0.9% (95% confidence interval 0.4-1.5%), and we argue that given the current data on historical populations we have to conclude that, at least for Western human populations, cuckoldry rate is probably in the range of 1%.

Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis.

PubMed

Yang, Lin; Zhan, Guo-dong; Ding, Jun-jie; Wang, Hui-jun; Ma, Duan; Huang, Guo-ying; Zhou, Wen-hao

2013-01-01

Several studies have suggested a difference in clinical features of intellectual ability and psychiatric illness in the Prader-Willi syndrome (PWS) with the 15q11-q13 paternal deletion and maternal uniparental disomy (mUPD). Our objective was to appraise evidence on this association through a meta-analysis. The electronic records PubMed and EMBASE from 1956 to 2012 were extracted for meta-analysis. Meta-analyses were performed by using fixed effect model. Mean difference, odds ratio, and 95% confidence interval were calculated. We retrieved a total of 744 PWS cases from 13 studies. These include 423 cases with paternal 15q11-q13 deletions and 318 cases of mUPD. Compare to the PWS cases with mUPD, PWS patients with the paternal 15q11-q13 deletion associated with significantly lower full scale IQ (FSIQ) [mean difference (MD), -2.69; 95%CI, -4.86 to -0.52; p=0.02] and verbal IQ (VIQ) (MD, -7.5; 95%CI, -9.75 to -5.26; p<0.00001) but higher performance IQ (PIQ) (MD, 4.02; 95%CI, 1.13 to 6.91; p=0.006). In contrast, PWS patients with mUPD are associated with significantly higher risk of psychiatric illness [odds rate (OR), 0.14; 95%CI, 0.08 to 0.23; p<0.00001] and higher risk of bipolar disorder (OR, 0.04; 95%CI, 0.01 to 0.23; p=0.0002). Significant different clinical features of cognitive development and psychiatric illness are associated with PWS with different molecular defects. These findings provide support for evidence based practice to evaluate and manage the PWS syndrome with different molecular defects.

Paternity and Dominance Loss in Male Breeders: The Cost of Helpers in a Cooperatively Breeding Mammal

PubMed Central

Lardy, Sophie; Cohas, Aurélie; Desouhant, Emmanuel; Tafani, Marion; Allainé, Dominique

2012-01-01

Paternity insurance and dominance tenure length are two important components of male reproductive success, particularly in species where reproduction is highly skewed towards a few individuals. Identifying the factors affecting these two components is crucial to better understand the pattern of variation in reproductive success among males. In social species, the social context (i.e. group size and composition) is likely to influence the ability of males to secure dominance and to monopolize reproduction. Most studies have analyzed the factors affecting paternity insurance and dominance tenure separately. We use a long term data set on Alpine marmots to investigate the effect of the number of subordinate males on both paternity insurance and tenure of dominant males. We show that individuals which are unable to monopolize reproduction in their family groups in the presence of many subordinate males are likely to lose dominance the following year. We also report that dominant males lose body mass in the year they lose both paternity and dominance. Our results suggest that controlling many subordinate males is energetically costly for dominant males, and those unable to support this cost lose the control over both reproduction and dominance. A large number of subordinate males in social groups is therefore costly for dominant males in terms of fitness. PMID:22272236

Those They Leave behind: Paternal Incarceration and Maternal Instrumental Support

ERIC Educational Resources Information Center

Turney, Kristin; Schnittker, Jason; Wildeman, Christopher

2012-01-01

As the American imprisonment rate has risen, researchers have become increasingly concerned about the implications of mass imprisonment for family life. The authors extend this research by examining how paternal incarceration is linked to perceived instrumental support among the mothers of inmates' children. Results from the Fragile Families and…

The association of parental education with childhood undernutrition in low- and middle-income countries: comparing the role of paternal and maternal education.

PubMed

Vollmer, Sebastian; Bommer, Christian; Krishna, Aditi; Harttgen, Kenneth; Subramanian, S V

2017-02-01

Most existing research on the association of parental education with childhood undernutrition focuses on maternal education and often ignores paternal education. We systematically investigate differences in maternal and paternal education and their association with childhood undernutrition. One hundred and eighty Demographic and Health Surveys from 62 countries performed between 1990 and 2014 were analysed. We used linear-probability models to predict childhood undernutrition prevalences, measured as stunting, underweight and wasting, for all combinations of maternal and paternal attainment in school. Models were adjusted for demographic and socio-economic covariates for the child, mother and household, country-level fixed effects and clustering. Additional specifications adjust for local area characteristics instead of country fixed effects. Both higher maternal and paternal education levels are associated with lower childhood undernutrition. In regressions adjusted for child age and sex as well as country-level fixed effects, the association is stronger for maternal education than for paternal education when their combined level of education is held constant. In the fully adjusted models, the observed differences in predicted undernutrition prevalences are strongly attenuated, suggesting a similar importance of maternal and paternal education. These findings are confirmed by the analysis of composite schooling indicators. We find that paternal education is similarly important for reducing childhood undernutrition as maternal education and should therefore receive increased attention in the literature. © The Author 2016; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association

Will male advertisement be a reliable indicator of paternal care, if offspring survival depends on male care?

PubMed Central

Kelly, Natasha B.; Alonzo, Suzanne H.

2009-01-01

Existing theory predicts that male signalling can be an unreliable indicator of paternal care, but assumes that males with high levels of mating success can have high current reproductive success, without providing any parental care. As a result, this theory does not hold for the many species where offspring survival depends on male parental care. We modelled male allocation of resources between advertisement and care for species with male care where males vary in quality, and the effect of care and advertisement on male fitness is multiplicative rather than additive. Our model predicts that males will allocate proportionally more of their resources to whichever trait (advertisement or paternal care) is more fitness limiting. In contrast to previous theory, we find that male advertisement is always a reliable indicator of paternal care and male phenotypic quality (e.g. males with higher levels of advertisement never allocate less to care than males with lower levels of advertisement). Our model shows that the predicted pattern of male allocation and the reliability of male signalling depend very strongly on whether paternal care is assumed to be necessary for offspring survival and how male care affects offspring survival and male fitness. PMID:19520802

Will male advertisement be a reliable indicator of paternal care, if offspring survival depends on male care?

PubMed

Kelly, Natasha B; Alonzo, Suzanne H

2009-09-07

Existing theory predicts that male signalling can be an unreliable indicator of paternal care, but assumes that males with high levels of mating success can have high current reproductive success, without providing any parental care. As a result, this theory does not hold for the many species where offspring survival depends on male parental care. We modelled male allocation of resources between advertisement and care for species with male care where males vary in quality, and the effect of care and advertisement on male fitness is multiplicative rather than additive. Our model predicts that males will allocate proportionally more of their resources to whichever trait (advertisement or paternal care) is more fitness limiting. In contrast to previous theory, we find that male advertisement is always a reliable indicator of paternal care and male phenotypic quality (e.g. males with higher levels of advertisement never allocate less to care than males with lower levels of advertisement). Our model shows that the predicted pattern of male allocation and the reliability of male signalling depend very strongly on whether paternal care is assumed to be necessary for offspring survival and how male care affects offspring survival and male fitness.

Paternal factor V Leiden and recurrent pregnancy loss: a new concept behind fetal genetics?

PubMed

Udry, S; Aranda, F M; Latino, J O; de Larrañaga, G F

2014-05-01

In up to 50% of couples affected by recurrent pregnancy loss, no identifiable cause is established. Fetal and maternal factors may be equally important in the establishment and maintenance of the placental/maternal arteriovenous anastomoses. Therefore,the inheritance of thrombophilia-related genes may be an important factor in the pathophysiology of recurrent pregnancy loss. Most of the research on recurrent pregnancy loss and thrombophilia has focused on maternal factors, but little is known about the paternal contribution. On that basis, we studied the association between inherited paternal thrombophilias and recurrent pregnancy loss in a narrowly selective group of 42 Argentine males from couples that presented without any known risk factors for recurrent pregnancy loss. The genotypic distributions of factor (F) V Leiden and prothrombin G20210A among cases were compared with those from a reference group composed of 200 Argentine men. We found a significant difference in the distribution of FV Leiden between both groups (16.7% vs. 3.0%), but no difference was found in the distribution of prothrombin G20210A (2.4% vs.2.0%). Those couples with paternal FV Leiden carriage would be six times more likely to experience recurrent pregnancy loss despite no other apparent cause (OR = 6.47; 95% CI, 2.06–20.39). We found evidence of an association between the paternal carriage of FV Leiden and the predisposition to recurrent pregnancy loss, thereby supporting the hypothesis that genetic contributions from both parents are essential factors in the development of this obstetric disorder.

Paternal Pregnancy Intention and Breastfeeding Duration: Findings from the National Survey of Family Growth.

PubMed

Wallenborn, Jordyn T; Masho, Saba W; Ratliff, Scott

2017-03-01

Objectives Despite the benefits of breastfeeding, less than a fifth of American mothers breastfeed for the recommended duration. Paternal support plays a major role in maternal and child health outcomes; however, the influence of paternal pregnancy intention on breastfeeding duration is under investigated. This study examines the relationship between fathers' pregnancy intention and breastfeeding duration. Methods Data from the 2011-2013 National Survey of Family Growth were analyzed using cross-sectional methodology. Women who were pregnant, never received medical help to become pregnant, whose partner was aged 18-49 years, and who responded to questions related to paternal pregnancy intention and breastfeeding were included in the analysis (N = 2089). Multinomial logistic regression, odds ratios and 95 % confidence intervals were calculated. There was a statistically significant interaction between father's age and father's pregnancy intention (P = 0.0385) and all models were stratified by paternal age. Results Fathers aged 18-24 years with a mistimed pregnancy were 2.3 times more likely to have a child who was never breastfed, (AOR 2.27, 95 % CI 1.39-3.70) and 1.7 times more likely to have a child who was breastfed 6 months or less (AOR 1.69, 95 % CI 1.28-2.23) compared to fathers with an intended pregnancy. No statistically significant association was observed among fathers aged 25-49 years. Conclusion Findings from this study show a relationship between mistimed pregnancies and breastfeeding duration among younger fathers. Healthcare professionals should develop breastfeeding interventions targeting fathers and young families.

Associations of paternal involvement in disease management with maternal and family outcomes in families with children with chronic illness.

PubMed

Gavin, Leslie; Wysocki, Tim

2006-06-01

The role of fathers in pediatric disease management and its associations with family functioning have rarely been the focus of empirical study. In this study, we used the Dads Active Disease Support scale (DADS), a measure of the amount and helpfulness of paternal involvement in pediatric disease management, to explore the association between father involvement and other aspects of family functioning. A sample of 190 heterosexual couples completed the DADS and measures of maternal, marital, and family functioning. Maternal report of higher ratings on DADS Helpfulness scale was associated with fewer self-reported maternal psychiatric symptoms and less perceived impact of the disease on family functioning. Both mothers' and fathers' reports indicated that more paternal involvement was related to more favorable outcomes in marital satisfaction and family functioning. More paternal involvement in disease management was associated with healthier maternal, marital, and family functioning. Longitudinal studies are needed to determine whether paternal involvement is likely to be a fruitful target for psychological intervention.

Skin-to-skin contact by fathers and the impact on infant and paternal outcomes: an integrative review.

PubMed

Shorey, Shefaly; He, Hong-Gu; Morelius, Evalotte

2016-09-01

to summarise research evidence on the impact of father-infant skin-to-skin contact on infant and paternal outcomes. an integrative literature review. PubMed, ScienceDirect, PsycINFO, and Cumulative Index to Nursing & Allied Health. studies included were: (1) published in English between January 1995 to September 2015; (2) primary researches; and (3) focused on fathers providing skin-to-skin contact with their infants and its impact on infant and paternal outcomes. The Joanna Briggs Institute's Critical Appraisal Checklists were used to appraise the scientific rigour of the studies. twelve studies (10 quantitative and two qualitative) were included in this review. Father-infant skin-to-skin contact had positive impacts on infants' outcomes, including temperature and pain, bio-physiological markers, behavioural response, as well as paternal outcomes, which include parental role attainment, paternal interaction behaviour, and paternal stress and anxiety. a father's involvement in providing skin-to-skin contact seems to be feasible and beneficial to both infants and fathers. However, there has been a scarcity of literature that exclusively examines fathers' involvement and perceptions related to skin-to-skin contact in the postpartum period. Future research should examine skin-to-skin contact by fathers and its associated benefits, as well as fathers' perceptions on father-infant SSC among varied populations. a father's involvement in providing skin-to-skin contact should be promoted during the postnatal period. Father-infant skin-to-skin contact is a valuable alternative, especially during the unavailability of mothers due to special circumstances, including medical emergencies and caesarean section. Copyright © 2016 Elsevier Ltd. All rights reserved.

Paternal epigenetic effects of population density on locust phase-related characteristics associated with heat-shock protein expression.

PubMed

Chen, Bing; Li, Shaoqin; Ren, Qiang; Tong, Xiwen; Zhang, Xia; Kang, Le

2015-02-01

Many species exhibit transgenerational plasticity by which environmental cues experienced by either parent can be transmitted to their offspring, resulting in phenotypic variants in offspring to match ancestral environments. However, the manner by which paternal experiences affect offspring plasticity through epigenetic inheritance in animals generally remains unclear. In this study, we examined the transgenerational effects of population density on phase-related traits in the migratory locust Locusta migratoria. Using an experimental design that explicitly controls genetic background, we found that the effects of crowd or isolation rearing on phase plasticity could be inherited to the offspring. The isolation of gregarious locusts resulted in reduced weight in offspring eggs and altered morphometric traits in hatchlings, whereas crowding of solitarious locusts exhibited opposite effects. The consequences of density changes were transmitted by both maternal and paternal inheritance, although the expression of paternal effects was not as pronounced as that of maternal effects. Prominent expression of heat-shock proteins (Hsps), such as Hsp90, Hsp70 and Hsp20.6, could be triggered by density changes. Hsps were significantly upregulated upon crowding but downregulated upon isolation. The variation in parental Hsp expression was also transmitted to the offspring, in which the pattern of inheritance was consistent with that of phase characteristics. These results revealed a paternal effect on phase polyphenism and Hsp expression induced by population density, and defined a model system that could be used to study the paternal epigenetic inheritance of environmental changes. © 2015 John Wiley & Sons Ltd.

Paternal responsiveness is associated with, but not mediated by reduced neophobia in male California mice (Peromyscus californicus)

PubMed Central

Chauke, Miyetani; de Jong, Trynke R.; Garland, Theodore; Saltzman, Wendy

2012-01-01

Hormones associated with pregnancy and parturition have been implicated in facilitating the onset of maternal behavior via reductions in neophobia, anxiety, and stress responsiveness. To determine whether the onset of paternal behavior has similar associations in biparental male California mice (Peromyscus californicus), we compared paternal responsiveness, neophobia (novel-object test), and anxiety-like behavior (elevated plus maze, EPM) in isolated virgins (housed alone), paired virgins (housed with another male), expectant fathers (housed with pregnant pairmate), and new fathers (housed with pairmate and pups). Corticotropin-releasing hormone (CRH) and Fos immunoreactivity (IR) were quantified in brain tissues following exposure to a predator-odor stressor or under baseline conditions. New fathers showed lower anxiety-like behavior than expectant fathers and isolated virgins in EPM tests. In all housing conditions, stress elevated Fos-IR in the hypothalamic paraventricular nucleus (PVN). Social isolation reduced overall (baseline and stress-induced) Fos- and colocalized Fos/CRH-IR, and increased overall CRH-IR, in the PVN. In the central nucleus of the amygdala, social isolation increased stress-induced CRH-IR and decreased stress-induced activation of CRH neurons. Across all housing conditions, paternally behaving males displayed more anxiety-related behavior than nonpaternal males in the EPM, but showed no differences in CRH- or Fos-IR. Finally, the latency to engage in paternal behavior was positively correlated with the latency to approach a novel object. These results suggest that being a new father does not reduce anxiety, neophobia, or neural stress responsiveness. Low levels of neophobia, however, were associated with, but not necessary for paternal responsiveness. PMID:22634280

Paid maternity and paternity leave: rights and choices.

PubMed

Jordan, Claire

2007-01-01

From April 2007 onwards, maternity leave will be raised to nine months Paid maternity leave is associated with significant health benefits for babies, including reduced infant mortality The Government proposes to increase paid maternity leave to one year and introduce additional paternity leave by around 2009 The U.K's provision for maternity leave and child care is more generous than the U.S.A. or Australia but less than in the Scandinavian countries

A New "Shield of the Weak": Continued Paternalism of Domestic Violence Services in Uruguay.

PubMed

Bloom, Allison

2018-03-01

Drawing on ethnographic and historical research, this article illuminates the limitations of the Uruguayan domestic violence services system. In spite of how advocates in Uruguay successfully used a human rights platform to secure legislation and services, this system now faces significant critique. Using Iris Marion Young's work on the "logic of masculinist protection" and historical parallels in Uruguay's welfare system, I discuss how a paternalistic approach may be to blame. I highlight how this paternalism contributes to the paternalism that problematically underlies gendered violence-reinforcing rather than addressing oppressive ideologies and structures that impede improving conditions for women.

High prevalence of multiple paternity in the invasive crayfish species, Procambarus clarkii

PubMed Central

Yue, Gen Hua; Li, Jia Le; Wang, Chun Ming; Xia, Jun Hong; Wang, Gen Lin; Feng, Jian Bing

2010-01-01

Reproductive strategy is a central feature of the ecology of invasive species as it determines the potential for population increase and range expansion. The red swamp crayfish, Procambarus clarkii, has invaded many countries and caused serious problems in freshwater ecosystems. However, little is known about the effects of environmental conditions on crayfish paternity and offspring traits in the wild. We studied these reproductive characteristics of P. clarkii in wild populations from two different habitats (ponds and ditches) in three locations with different environmental conditions in China. Genotyping of 1,436 offspring and 30 mothers of 30 broods was conducted by using four microsatellites. An analysis of genotyping results revealed that gravid females were the exclusive mother of the progeny they tended. Twenty-nine of 30 mothers had mated with multiple (2-4) males, each of which contributed differently to the number of offspring in a brood. The average number of fathers per brood and the number of offspring per brood were similar (P > 0.05) among six sampling sites, indicating that in P. clarkii multiple paternity and offspring number per brood are independent of environmental conditions studied. Indirect benefits from increasing the genetic diversity of broods, male and sperm competition, and cryptic female choice are a possible explanation for the high level multiple paternity and different contribution of fathers to offspring in this species. PMID:20186292

Early maternal and paternal bonding, childhood physical abuse and adult psychopathic personality

PubMed Central

Gao, Y.; Raine, A.; Chan, F.; Venables, P. H.; Mednick, S. A.

2013-01-01

Background A significant gap in the literature on risk factors for psychopathy is the relative lack of research on parental bonding. Method This study examines the cross-sectional relationship between maternal and paternal bonding, childhood physical abuse and psychopathic personality at age 28 years in a community sample of 333 males and females. It also assesses prospectively whether children separated from their parents in the first 3 years of life are more likely to have a psychopathic-like personality 25 years later. Results Hierarchical regression analyses indicated that: (1) poor parental bonding (lack of maternal care and low paternal overprotection) and childhood physical abuse were both associated with a psychopathic personality; (2) parental bonding was significantly associated with psychopathic personality after taking into account sex, social adversity, ethnicity and abuse; (3) those separated from parents in the first 3 years of life were particularly characterized by low parental bonding and a psychopathic personality in adulthood; and (4) the deviant behavior factor of psychopathy was more related to lack of maternal care whereas the emotional detachment factor was related to both lack of maternal care and paternal overprotection. Conclusions Findings draw attention to the importance of different components of early bonding in relation to adult psychopathy, and may have potential implications for early intervention and prevention of psychopathy. PMID:20441692

Paternal alcoholism and offspring conduct disorder: evidence for the 'common genes' hypothesis.

PubMed

Haber, Jon R; Jacob, Theodore; Heath, Andrew C

2005-04-01

Not only are alcoholism and externalizing disorders frequently comorbid, they often co-occur in families across generations; for example, paternal alcoholism predicts offspring conduct disorder just as it does offspring alcoholism. To clarify this relationship, the current study examined the 'common genes' hypothesis utilizing a children-of-twins research design. Participants were male monozygotic (MZ) and dizygotic (DZ) twins from the Vietnam Era Twin Registry who were concordant or discordant for alcohol dependence together with their offspring and the mothers of those offspring. All participants were conducted through a structured psychiatric interview. Offspring risk of conduct disorder was examined as a function of alcoholism genetic risk (due to paternal and co-twin alcohol dependence) and alcoholism environmental risk (due to being reared by a father with an alcohol dependence diagnosis). After controlling for potentially confounding variables, the offspring of alcohol-dependent fathers were significantly more likely to exhibit conduct disorder diagnoses than were offspring of nonalcohol-dependent fathers, thus indicating diagnostic crossover in generational family transmission. Comparing offspring at high genetic and high environmental risk with offspring at high genetic and low environmental risk indicated that genetic factors were most likely responsible for the alcoholism-conduct disorder association. The observed diagnostic crossover (from paternal alcoholism to offspring conduct disorder) across generations in the context of both high and low environmental risk (while genetic risk remained high) supported the common genes hypothesis.

In-Hospital Paternity Establishment and Father Involvement in Fragile Families

ERIC Educational Resources Information Center

Mincy, Ronald; Garfinkel, Irwin; Nepomnyaschy, Lenna

2005-01-01

This article assesses the effectiveness of in-hospital paternity establishment, a federal requirement since 1993. We avoid biases in previous studies by using a national sample of nonmarital births (N= 3,254), by including detailed controls for characteristics of unwed mothers and previously unavailable controls for characteristics of fathers, and…

“Nudge” in the clinical consultation – an acceptable form of medical paternalism?

PubMed Central

2014-01-01

Background Libertarian paternalism is a concept derived from cognitive psychology and behavioural science. It is behind policies that frame information in such a way as to encourage individuals to make choices which are in their best interests, while maintaining their freedom of choice. Clinicians may view their clinical consultations as far removed from the realms of cognitive psychology but on closer examination there are a number of striking similarities. Discussion Evidence has shown that decision making is prone to bias and not necessarily rational or logical, particularly during ill health. Clinicians will usually have an opinion about what course of action represents the patient’s best interests and thus may “frame” information in a way which “nudges” patients into making choices which are considered likely to maximise their welfare. This may be viewed as interfering with patient autonomy and constitute medical paternalism and appear in direct opposition to the tenets of modern practice. However, we argue that clinicians have a responsibility to try and correct “reasoning failure” in patients. Some compromise between patient autonomy and medical paternalism is justified on these grounds and transparency of how these techniques may be used should be promoted. Summary Overall the extremes of autonomy and paternalism are not compatible in a responsive, responsible and moral health care environment, and thus some compromise of these values is unavoidable. Nudge techniques are widely used in policy making and we demonstrate how they can be applied in shared medical decision making. Whether or not this is ethically sound is a matter of continued debate but health care professionals cannot avoid the fact they are likely to be using nudge within clinical consultations. Acknowledgment of this will lead to greater self-awareness, reflection and provide further avenues for debate on the art and science of clinical communication. PMID:24742113

[Mutation Analysis of 19 STR Loci in 20 723 Cases of Paternity Testing].

PubMed

Bi, J; Chang, J J; Li, M X; Yu, C Y

2017-06-01

To observe and analyze the confirmed cases of paternity testing, and to explore the mutation rules of STR loci. The mutant STR loci were screened from 20 723 confirmed cases of paternity testing by Goldeneye 20A system．The mutation rates, and the sources, fragment length, steps and increased or decreased repeat sequences of mutant alleles were counted for the analysis of the characteristics of mutation-related factors. A total of 548 mutations were found on 19 STR loci, and 557 mutation events were observed. The loci mutation rate was 0.07‰-2.23‰. The ratio of paternal to maternal mutant events was 3.06:1. One step mutation was the main mutation, and the number of the increased repeat sequences was almost the same as the decreased repeat sequences. The repeat sequences were more likely to decrease in two steps mutation and above. Mutation mainly occurred in the medium allele, and the number of the increased repeat sequences was almost the same as the decreased repeat sequences. In long allele mutations, the decreased repeat sequences were significantly more than the increased repeat sequences. The number of the increased repeat sequences was almost the same as the decreased repeat sequences in paternal mutation, while the decreased repeat sequences were more than the increased in maternal mutation. There are significant differences in the mutation rate of each locus. When one or two loci do not conform to the genetic law, other detection system should be added, and PI value should be calculated combined with the information of the mutate STR loci in order to further clarify the identification opinions. Copyright© by the Editorial Department of Journal of Forensic Medicine

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.

PubMed

Gruber, Aurélia; Pacault, Mathilde; El Khattabi, Laila Allach; Vaucouleur, Nicolas; Orhant, Lucie; Bienvenu, Thierry; Girodon, Emmanuelle; Vidaud, Dominique; Leturcq, France; Costa, Catherine; Letourneur, Franck; Anselem, Olivia; Tsatsaris, Vassilis; Goffinet, François; Viot, Géraldine; Vidaud, Michel; Nectoux, Juliette

2018-04-25

To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations. NIPD was performed between 8 and 15 weeks of gestation, in parallel to conventional invasive diagnosis. We designed specific hydrolysis probes to detect the paternal mutation and to assess the presence of cell-free fetal DNA by ddPCR. Analytical performances of each assay were determined from paternal sample, an then fetal genotype was inferred from maternal plasma sample. Presence or absence of the paternal mutant allele was correctly determined in all the studied plasma DNA samples. We report an NIPD protocol suitable for implementation in an experienced laboratory of molecular genetics. Our proof-of-principle results point out a high accuracy for early detection of paternal NF1 and CFTR mutations in cell-free DNA, and open new perspectives for extending the technology to NIPD of many other monogenic diseases.

Advancing paternal age at birth is associated with poorer social functioning earlier and later in life of schizophrenia patients in a founder population.

PubMed

Liebenberg, Rudolf; van Heerden, Brigitte; Ehlers, René; Du Plessis, Anna M E; Roos, J Louw

2016-09-30

Consistent associations have been found between advanced paternal age and an increased risk of psychiatric disorders, such as schizophrenia, in their offspring. This increase appears to be linear as paternal age increases. The present study investigates the relationship between early deviant behaviour in the first 10 years of life of patients as well as longer term functional outcome and paternal age in sporadic Afrikaner founder population cases of schizophrenia. This might improve our understanding of Paternal Age-Related Schizophrenia (PARS). Follow-up psychiatric diagnoses were confirmed by the Diagnostic Interview for Genetic Studies (DIGS). An early deviant childhood behaviour semi-structured questionnaire and the Specific Level of Functioning Assessment (SLOF) were completed. From the logistic regression models fitted, a significant negative relationship was found between paternal age at birth and social dysfunction as early deviant behaviour. Additionally, regression analysis revealed a significant negative relationship between paternal age at birth and the SLOF for interpersonal relationships later in life. Early social dysfunction may represent a phenotypic trait for PARS. Further research is required to understand the relationship between early social dysfunction and deficits in interpersonal relationships later in life. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Whole-exome sequencing revealed two novel mutations in Usher syndrome.

PubMed

Koparir, Asuman; Karatas, Omer Faruk; Atayoglu, Ali Timucin; Yuksel, Bayram; Sagiroglu, Mahmut Samil; Seven, Mehmet; Ulucan, Hakan; Yuksel, Adnan; Ozen, Mustafa

2015-06-01

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Since the associated genes are various and quite large, we utilized whole-exome sequencing (WES) as a diagnostic tool to identify the molecular basis of Usher syndrome. DNA from a 12-year-old male diagnosed with Usher syndrome was analyzed by WES. Mutations detected were confirmed by Sanger sequencing. The pathogenicity of these mutations was determined by in silico analysis. A maternally inherited deleterious frameshift mutation, c.14439_14454del in exon 66 and a paternally inherited non-sense c.10830G>A stop-gain SNV in exon 55 of USH2A were found as two novel compound heterozygous mutations. Both of these mutations disrupt the C terminal of USH2A protein. As a result, WES revealed two novel compound heterozygous mutations in a Turkish USH2A patient. This approach gave us an opportunity to have an appropriate diagnosis and provide genetic counseling to the family within a reasonable time. Copyright © 2015 Elsevier B.V. All rights reserved.

Independent origins of Indian caste and tribal paternal lineages.

PubMed

Cordaux, Richard; Aunger, Robert; Bentley, Gillian; Nasidze, Ivane; Sirajuddin, S M; Stoneking, Mark

2004-02-03

The origins of the nearly one billion people inhabiting the Indian subcontinent and following the customs of the Hindu caste system are controversial: are they largely derived from Indian local populations (i.e. tribal groups) or from recent immigrants to India? Archaeological and linguistic evidence support the latter hypothesis, whereas recent genetic data seem to favor the former hypothesis. Here, we analyze the most extensive dataset of Indian caste and tribal Y chromosomes to date. We find that caste and tribal groups differ significantly in their haplogroup frequency distributions; caste groups are homogeneous for Y chromosome variation and more closely related to each other and to central Asian groups than to Indian tribal or any other Eurasian groups. We conclude that paternal lineages of Indian caste groups are primarily descended from Indo-European speakers who migrated from central Asia approximately 3,500 years ago. Conversely, paternal lineages of tribal groups are predominantly derived from the original Indian gene pool. We also provide evidence for bidirectional male gene flow between caste and tribal groups. In comparison, caste and tribal groups are homogeneous with respect to mitochondrial DNA variation, which may reflect the sociocultural characteristics of the Indian caste society.

Paternal Psychopathology: Relationship to Adolescent Substance Abuse and Deviant Behavior.

ERIC Educational Resources Information Center

Brown, Sandra A.; And Others

Research has documented the genetic contribution of paternal alcoholism and Antisocial Personality Disorder as risk factors for adolescent deviant behavior, including substance abuse. Teens (n=147) between the ages of 12 and 19 years and their parents participated in the study. The sample consisted of 74 substance abusing teens/families drawn from…

Maternal and Paternal Age are Jointly Associated with Childhood Autism in Jamaica

PubMed Central

Samms-Vaughan, Maureen; Loveland, Katherine A.; Pearson, Deborah A.; Bressler, Jan; Chen, Zhongxue; Ardjomand-Hessabi, Manouchehr; Shakespeare-Pellington, Sydonnie; Grove, Megan L.; Beecher, Compton; Bloom, Kari; Boerwinkle, Eric

2013-01-01

Several studies have reported maternal and paternal age as risk factors for having a child with Autism Spectrum Disorder (ASD), yet the results remain inconsistent. We used data for 68 age- and sex-matched case–control pairs collected from Jamaica. Using Multivariate General Linear Models (MGLM) and controlling for parity, gestational age, and parental education, we found a significant (p < 0.0001) joint effect of parental ages on having children with ASD indicating an adjusted mean paternal age difference between cases and controls of [5.9 years; 95% CI (2.6, 9.1)] and a difference for maternal age of [6.5 years; 95% CI (4.0, 8.9)]. To avoid multicollinearity in logistic regression, we recommend joint modeling of parental ages as a vector of outcome variables using MGLM. PMID:22230961

Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome.

PubMed

Mills, Kimberly I; Anderson, Jacqueline; Levy, Philip T; Cole, F Sessions; Silva, Jennifer N A; Kulkarni, Shashikant; Shinawi, Marwan

2013-01-01

Wolff-Parkinson-White (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were described. Microdeletions of 20p12.3 have been associated with WPW syndrome with either cognitive dysfunction or Alagille syndrome. Here, we describe the association of 20p12.3 duplication with WPW syndrome in a patient who presented with non-immune hydrops. Her paternal uncle carries the duplication and has attention-deficit hyperactivity disorder and electrocardiographic findings consistent with WPW. The 769 kb duplication was detected by the Affymetrix Whole Genome-Human SNP Array 6.0 and encompasses two genes and the first two exons of a third gene. We discuss the potential role of the genes in the duplicated region in the pathogenesis of WPW and possible neurobehavioral abnormalities. Our data provide additional support for a significant role of 20p12.3 chromosomal rearrangements in the etiology of WPW syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study.

PubMed

Desrosiers, Tania A; Herring, Amy H; Shapira, Stuart K; Hooiveld, Mariëtte; Luben, Tom J; Herdt-Losavio, Michele L; Lin, Shao; Olshan, Andrew F

2012-08-01

Several epidemiological studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, the authors investigated the association between paternal occupation and birth defects in a case-control study of cases comprising over 60 different types of birth defects (n=9998) and non-malformed controls (n=4066) with dates of delivery between 1997 and 2004. Using paternal occupational histories reported by mothers via telephone interview, jobs were systematically classified into 63 groups based on shared exposure profiles within occupation and industry. Data were analysed using bayesian logistic regression with a hierarchical prior for dependent shrinkage to stabilise estimation with sparse data. Several occupations were associated with an increased prevalence of various birth defect categories, including mathematical, physical and computer scientists; artists; photographers and photo processors; food service workers; landscapers and groundskeepers; hairdressers and cosmetologists; office and administrative support workers; sawmill workers; petroleum and gas workers; chemical workers; printers; material moving equipment operators; and motor vehicle operators. Findings from this study might be used to identify specific occupations worthy of further investigation and to generate hypotheses about chemical or physical exposures common to such occupations.

Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study

PubMed Central

Desrosiers, Tania A.; Herring, Amy H.; Shapira, Stuart K.; Hooiveld, Mariette; Luben, Tom J.; Herdt-Losavio, Michele L.; Lin, Shao; Olshan, Andrew F.

2013-01-01

Objectives Several epidemiologic studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, we investigated the association between paternal occupation and birth defects in a case-control study of cases comprising over 60 different types of birth defects (n = 9998) and non-malformed controls (n = 4066) with dates of delivery between 1997 and 2004. Methods Using paternal occupational histories reported by mothers via telephone interview, jobs were systematically classified into 63 groups based on shared exposure profiles within occupation and industry. Data were analyzed using Bayesian logistic regression with a hierarchical prior for dependent shrinkage to stabilize estimation with sparse data. Results Several occupations were associated with an increased prevalence of various birth defect categories, including: mathematical, physical and computer scientists; artists; photographers and photo processors; food service workers; landscapers and groundskeepers; hairdressers and cosmetologists; office and administrative support workers; sawmill workers; petroleum and gas workers; chemical workers; printers; material moving equipment operators; and motor vehicle operators. Conclusions Findings from this study might be used to identify specific occupations worthy of further investigation, and to generate hypotheses about chemical or physical exposures common to such occupations. PMID:22782864

Three hundred years of low non-paternity in a human population

PubMed Central

Greeff, J M; Erasmus, J C

2015-01-01

When cuckoldry is frequent we can expect fathers to withhold investment in offspring that may not be theirs. Human paternal investment can be substantial and is in line with observations from tens of thousands of conceptions that suggest that cuckoldry is rare in humans. The generality of this claim seems to be in question as the rate of cuckoldry varies across populations and studies have mostly been on Western populations. Two additional factors complicate our conclusions, (1) current estimates of the rate of cuckoldry in humans may not reflect our past behaviour as adultery can be concealed by the use of contraceptives; and (2) it is difficult to obtain samples that are random with respect to their paternity certainty. Studies that combine genealogies with Y-chromosome haplotyping are able to circumvent some of these problems by probing into humans' historical behaviour. Here we use this approach to investigate 1273 conceptions over a period of 330 years in 23 families of the Afrikaner population in South Africa. We use haplotype frequency and diversity and coalescent simulations to show that the male population did not undergo a severe bottleneck and that paternity exclusion rates are high for this population. The rate of cuckoldry in this Western population was 0.9% (95% confidence interval 0.4–1.5%), and we argue that given the current data on historical populations we have to conclude that, at least for Western human populations, cuckoldry rate is probably in the range of 1%. PMID:25944467

Interspecific interactions explain variation in the duration of paternal care in the burying beetle

PubMed Central

De Gasperin, Ornela; Duarte, Ana; Kilner, Rebecca M.

2015-01-01

Why is there so much variation within species in the extent to which males contribute to offspring care? Answers to this question commonly focus on intraspecific sources of variation in the relative costs and benefits of supplying paternal investment. With experiments in the laboratory on the burying beetle, Nicrophorus vespilloides, and its phoretic mite Poecilochirus carabi, we investigated whether interactions with a second species might also account for intraspecific variation in the extent of paternal care, and whether this variation is due to adaptation or constraint. In our first experiment we bred beetles in the presence or absence of phoretic mites, using a breeding box that mimicked natural conditions by allowing parents to leave the breeding attempt at a time of their choosing. We found that males abandoned their brood sooner when breeding alongside mites than when breeding in their absence. Female patterns of care were unchanged by the mites. Nevertheless, in this experiment, no correlates of beetle fitness were affected by the presence of the mites during reproduction (neither paternal life span after reproduction nor brood size or average larval mass). In a second experiment, we again bred beetles with or without mites but this time we prevented parents from abandoning the brood. This time we found that both parents and the brood suffered fitness costs when breeding alongside mites, compared with families breeding in the absence of mites. We conclude that males adaptively reduce their contributions to care when mites are present, so as to defend their offspring's fitness and their own residual fitness. Interspecific interactions thus account for intraspecific variation in the duration of paternal care. PMID:26778845

Paternal responsiveness is associated with, but not mediated by reduced neophobia in male California mice (Peromyscus californicus).

PubMed

Chauke, Miyetani; de Jong, Trynke R; Garland, Theodore; Saltzman, Wendy

2012-08-20

Hormones associated with pregnancy and parturition have been implicated in facilitating the onset of maternal behavior via reductions in neophobia, anxiety, and stress responsiveness. To determine whether the onset of paternal behavior has similar associations in biparental male California mice (Peromyscus californicus), we compared paternal responsiveness, neophobia (novel-object test), and anxiety-like behavior (elevated plus maze, EPM) in isolated virgins (housed alone), paired virgins (housed with another male), expectant fathers (housed with pregnant pairmate), and new fathers (housed with pairmate and pups). Corticotropin-releasing hormone (CRH) and Fos immunoreactivity (IR) were quantified in brain tissues following exposure to a predator-odor stressor or under baseline conditions. New fathers showed lower anxiety-like behavior than expectant fathers and isolated virgins in EPM tests. In all housing conditions, stress elevated Fos-IR in the hypothalamic paraventricular nucleus (PVN). Social isolation reduced overall (baseline and stress-induced) Fos- and colocalized Fos/CRH-IR, and increased overall CRH-IR, in the PVN. In the central nucleus of the amygdala, social isolation increased stress-induced CRH-IR and decreased stress-induced activation of CRH neurons. Across all housing conditions, paternally behaving males displayed more anxiety-related behavior than nonpaternal males in the EPM, but showed no differences in CRH- or Fos-IR. Finally, the latency to engage in paternal behavior was positively correlated with the latency to approach a novel object. These results suggest that being a new father does not reduce anxiety, neophobia, or neural stress responsiveness. Low levels of neophobia, however, were associated with, but not necessary for paternal responsiveness. Copyright © 2012 Elsevier Inc. All rights reserved.

Aggression and Paternal Absence: Racial Differences Among Inner-City Males.

ERIC Educational Resources Information Center

Montare, Alberto; Boone, Sherle

Aggression scores were obtained from 132 preadolescent inner city males to test the hypothesis that paternal absence may lead to both increased and decreased aggression. The subjects were 55 black, 25 Puerto Rican, and 52 white males between the ages of 9 and 13. They attended elementary public schools in Newark, New Jersey. A statistically…

Progesterone Response Element Variation in the OXTR Promoter Region and Paternal Care in New World Monkeys.

PubMed

Vargas-Pinilla, Pedro; Babb, Paul; Nunes, Leandro; Paré, Pâmela; Rosa, Gabrielle; Felkl, Aline; Longo, Dânae; Salzano, Francisco M; Paixão-Côrtes, Vanessa R; Gonçalves, Gislene Lopes; Bortolini, Maria Cátira

2017-01-01

Paternal care is a complex social behavior common in primate species with socially monogamous mating systems and twin births. Evolutionary causes and consequences of such behavior are not well understood, nor are their neuroendocrine and genetic bases. However, the neuropeptide oxytocin (OXT) and its receptor (OXTR) are associated with parental care in mammalian lineages. Here we investigated the interspecific variation in the number of progesterone response elements (PREs) in the OXTR promoter region of 32 primate species, correlating genetic data with behavior, social systems, and ecological/life-history parameters, while controlling for phylogeny. We verified that PREs are only present in New World monkeys and that PRE number is significantly correlated with the presence of paternal care in this branch. We suggest that PRE number could be an essential part of the genetic repertoire that allowed the emergence of taxon-specific complex social behaviors, such as paternal care in marmosets and tamarins.