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Sample records for apert syndrome paternal

  1. [Apert's syndrome: a case report].

    PubMed

    Doutetien, C; Laleye, A; Tchabi, S; Biaou, O; Lawani, R; Deguenon, J; Darboux, R; Gnamey, D; Bassabi, S K

    2003-09-01

    Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality. PMID:13130264

  2. Apert, Crouzon and Other Craniosynostosis Syndromes.

    ERIC Educational Resources Information Center

    Hospital for Sick Children, Toronto (Ontario).

    This booklet discusses the impact and treatment of the two craniosynostosis syndromes (Apert and Crouzon), which involve the premature fusion of skull sutures, are usually identified at birth, and require years of treatment. It is noted that children with Apert syndrome may have some degree of mental retardation while children with Crouzon…

  3. Le syndrome d'apert

    PubMed Central

    Benmiloud, Sarra; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

    2013-01-01

    Le syndrome d'Apert est une affection congénitale rare, caractérisée par une sténose cranio-faciale associée à une syndactylie des mains et des pieds. Sa prise en charge doit être précoce et multidisciplinaire. Sa gravité réside dans la coexistence de plusieurs malformations avec un risque d'hypertension intracrânienne chronique responsable d'une cécité et d'une débilité mentale. Les auteurs rapportent une nouvelle observation à travers laquelle ils illustrent les aspects cliniques et évolutifs ainsi que les difficultés thérapeutiques de cette affection. PMID:23565313

  4. ORAL FINDINGS IN PATIENTS WITH APERT SYNDROME

    PubMed Central

    Dalben, Gisele da Silva; Neves, Lucimara Teixeira das; Gomide, Marcia Ribeiro

    2006-01-01

    Introduction: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. Objective: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. Material and methods: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. Results: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. Conclusions: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome. PMID:19089249

  5. Mandibular asymmetry in patients with the crouzon or apert syndrome.

    PubMed

    Elmi, P; Reitsma, J H; Buschang, P H; Wolvius, E B; Ongkosuwito, E M

    2015-05-01

    The aim of this study was to describe directional and fluctuating mandibular asymmetry over time in children with Crouzon or Apert syndrome. Mandibular asymmetry of children between 7.5 and 14 years of age with Crouzon syndrome (n = 35) and Apert syndrome (n = 24) were compared with controls (n = 327). From panoramic radiographs, mandibular directional and fluctuating asymmetry was determined for the three groups. Multilevel statistical techniques were used to describe mandibular asymmetry changes over time. Patients with Crouzon and Apert syndromes showed statistically significant more fluctuating asymmetry for mandibular measures than did controls. Between the Crouzon and Apert syndromes groups, no statistical differences were found in directional and fluctuating asymmetry. The control group showed statistically significantly more directional asymmetry than did patients with Crouzon or Apert syndrome. The controls showed no change over time for the directional asymmetry of condylar-ramal height; however, the directional asymmetry of the gonial angle increased. Patients with Crouzon syndrome showed side dominance for only condylar-ramal height; whereas, patients with Apert syndrome did not show dominance for any of the measurements. Apert and Crouzon syndromes showed developmental instability, in contrast to the controls. No statistically significant longitudinal differences were found for either the directional or the fluctuating asymmetry between Crouzon and Apert syndromes. Findings for fluctuating and directional asymmetry for both syndromes may indicate an inability to cope with genetic and environmental stress during development and treatment, compared with untreated nonsyndromic individuals. PMID:24878346

  6. Infrared venography of the hand in Apert syndrome

    PubMed Central

    Nishimoto, Soh; Fukuda, Kenji; Fujiwara, Toshihiro; Kinoshita, Masato; Kawai, Kenichiro; Kakibuchi, Masao

    2013-01-01

    As well as craniofacial synostosis, complex syndactyly of hands is a distinctive feature of Apert syndrome. Consideration of blood flow to the digits is very important in separation surgery. Several reports offer information about arterial distribution in Apert's hands. Though, venous pattern has not been well discussed. Infrared venography offers a real-time image with minimal invasion. An Apert syndrome patient underwent a series of finger splitting surgeries. Infrared venography was carried out to assess veins. There was a palmar venous arch, placing distally to the metacarpophalangeal joint. The arch had to be cut to divide fused fingers sufficiently. As well as arterial abnormality, venous uniqueness should be noted in Apert syndactyly surgeries. Infrared venography, which can be carried out easily, offers good information that surgeon require. PMID:24459355

  7. Treatment timing and multidisciplinary approach in Apert syndrome

    PubMed Central

    Fadda, Maria Teresa; Ierardo, Gaetano; Ladniak, Barbara; Di Giorgio, Gianni; Caporlingua, Alessandro; Raponi, Ingrid; Silvestri, Alessandro

    2015-01-01

    Summary Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal sutures and less frequently lambdoid suture) resulting in brachiturricephalic dismorphism and impaired skull base growth. After this brief explanation it is clear that these anatomical abnormalities may have a negative impact on the ability to perform essential functions. Due to the complexity of the syndrome a multidisciplinary (respiratory, cerebral, maxillo-mandibular, dental, ophthalmic and orthopaedic) approach is necessary in treating the psychological, aesthetic and functional issues. The aim of this paper is to analyse the different functional issues and surgical methods trying to enhance results through a treatment plan which includes different specialities involved in Apert syndrome treatment. Reduced intellectual capacity is associated to the high number of general anaesthesia the small patients are subject to. Therefore the diagnostic and therapeutic treatment plan in these patients has established integrated and tailored surgical procedures based on the patients’ age in order to reduce the number of general anaesthesia, thus simplifying therapy for both Apert patients and their family members. PMID:26330906

  8. Molding of top skull in the treatment of Apert syndrome.

    PubMed

    Shen, Weimin; Cui, Jie; Chen, Jianbin; Weiping, Shen

    2015-03-01

    Patients with Apert syndrome have bilateral coronal craniosynostosis, along with a distinguishing feature of their many deformity, called tower skull. Surgical correction of this deformity is the mainstay of treatment. We describe 3 patients molded top skull after front bone osteotomy orbital bar advancement. This successfully restricted growth of their top skull while allowing growth in other dimensions. Utilization of top-skull molding after cranial surgery shows promise of satisfaction in this setting.

  9. Syndrome d'Apert chez un congolais de 60 ans: à propos d'une observation

    PubMed Central

    Ngombe, Léon Kabamba; Kabamba, Christophe Mwamba; Nday, David Kakez; Fundi, Jimmy Ngoie; Kitenge, Tony Kayembe; Numbi, Luboya

    2015-01-01

    Le syndrome d'Apert est une rare acrocéphalosyndactylie caractérisée par une dysmorphie crânio-faciale avec une crâniosténose, une syndactylie aux mains et aux pieds et d'autres malformations cérébrales. La coexistence de plusieurs malformations avec un important lot de préjudices esthétiques constitue la gravité de ce syndrome. Une prise en charge précoce et multidisciplinaire s'avère important. Les auteurs rapportent une observation rare d'un syndrome d'apert chez un patient congolais âgé de 60 ans qui n'a jamais bénéficié d'une prise en charge. Ainsi, cette observation décrit les aspects cliniques et évolutifs de cette affection. PMID:26309466

  10. Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

    PubMed

    Fernandes, Marilyse B L; Maximino, Luciana P; Perosa, Gimol B; Abramides, Dagma V M; Passos-Bueno, Maria Rita; Yacubian-Fernandes, Adriano

    2016-06-01

    Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed. Patients between 11 and 36 years of age (mean 18.29 ± 5.80), received cognitive evaluations, cerebral magnetic resonance imaging, and molecular DNA analyses. Eight patients with Apert syndrome (AS) had full scale intelligence quotients (FSIQs) that ranged from 47 to 108 (mean 76.9 ± 20.2), and structural brain abnormalities were identified in five of eight patients. Six patients presented with a gain-of-function mutation (p.Ser252Trp) in FGFR2 and FSIQs in those patients ranged from 47 to78 (mean 67.2 ± 10.7). One patient with a gain-of-function mutation (p.Pro253Arg) had a FSIQ of 108 and another patient with an atypical splice mutation (940-2A →G) had a FSIQ of 104. Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS). © 2016 Wiley Periodicals, Inc. PMID:27028366

  11. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

    SciTech Connect

    Slaney, S.F.; Oldridge, M.; Wilkie, A.O.M.

    1996-05-01

    Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these mutations in genomic DNA, based on the creation of novel SfiI and BstUI restriction sites. Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. Phenotypic differences between these two groups of patients were investigated. Significant differences were found for severity of syndactyly and presence of cleft palate. The syndactyly was more severe with the Pro253Arg mutation, for both the hands and the feet. In contrast, cleft palate was significantly more common in the Ser252Trp patients. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome. We conclude that, although the phenotype attributable to the two mutations is very similar, there are subtle differences. The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2. 54 refs., 5 figs., 3 tabs.

  12. Postnatal brain and skull growth in an Apert syndrome mouse model

    PubMed Central

    Hill, Cheryl A.; Martínez-Abadías, Neus; Motch, Susan M.; Austin, Jordan R.; Wang, Yingli; Jabs, Ethylin Wang; Richtsmeier, Joan T.; Aldridge, Kristina

    2012-01-01

    Craniofacial and neural tissues develop in concert throughout pre- and postnatal growth. FGFR-related craniosynostosis syndromes, such as Apert syndrome (AS), are associated with specific phenotypes involving both the skull and the brain. We analyzed the effects of the FGFR P253R mutation for Apert syndrome using the Fgfr2+/P253R mouse to evaluate the effects of this mutation on these two tissues over the course of development from day of birth (P0) to postnatal day 2 (P2). Three-dimensional magnetic resonance microscopy and computed tomography images were acquired from Fgfr2+/P253R mice and unaffected littermates at P0 (N=28) and P2 (N=23). 3D coordinate data for 23 skull and 15 brain landmarks were statistically compared between groups. Results demonstrate that the Fgfr2+/P253R mice show reduced growth in the facial skeleton and the cerebrum, while the height and width of the neurocranium and caudal regions of the brain show increased growth relative to unaffected littermates. This localized correspondence of differential growth patterns in skull and brain point to their continued interaction through development and suggest that both tissues display divergent postnatal growth patterns relative to unaffected littermates. However, the change in the skull-brain relationship from P0 to P2 implies that each tissue affected by the mutation retains a degree of independence, rather than one tissue directing the development of the other. PMID:23495236

  13. Effects of multisensory yoga on behavior in a male child with Apert and Asperger syndrome.

    PubMed

    Scroggins, Michaela L; Litchke, Lyn G; Liu, Ting

    2016-01-01

    This case focused on a 7-year-old boy with Apert and Asperger's syndrome who attended 8, 45 min multisensory yoga sessions, twice a week, during 4-week camp. Results from the pre- and post-tests on Treatment and Research Institute for Autism Social Skills Assessment showed improvements in the total score changes from 19 to 7 for disruptive behaviors. Sparks Target Behavior Checklist scores changed from eight to one showing progression in ability to stay on task. Yoga Pose Rating Scale displayed the transformation in total scores from 80 = emerging to 115 = consistency in pose performance. The field notes revealed the positive development in expressive emotions, social engagement, and decline in looking around. Outside class parent and school behavioral specialist reported the improved ability to self-regulate stress using lion's breath and super brain. These findings indicate an improvement in behaviors that influenced the physical performance, emotional expression, and social interaction after yoga training for this child.

  14. Effects of multisensory yoga on behavior in a male child with Apert and Asperger syndrome.

    PubMed

    Scroggins, Michaela L; Litchke, Lyn G; Liu, Ting

    2016-01-01

    This case focused on a 7-year-old boy with Apert and Asperger's syndrome who attended 8, 45 min multisensory yoga sessions, twice a week, during 4-week camp. Results from the pre- and post-tests on Treatment and Research Institute for Autism Social Skills Assessment showed improvements in the total score changes from 19 to 7 for disruptive behaviors. Sparks Target Behavior Checklist scores changed from eight to one showing progression in ability to stay on task. Yoga Pose Rating Scale displayed the transformation in total scores from 80 = emerging to 115 = consistency in pose performance. The field notes revealed the positive development in expressive emotions, social engagement, and decline in looking around. Outside class parent and school behavioral specialist reported the improved ability to self-regulate stress using lion's breath and super brain. These findings indicate an improvement in behaviors that influenced the physical performance, emotional expression, and social interaction after yoga training for this child. PMID:26865777

  15. Apert syndrome

    MedlinePlus

    ... genetic disease in which the seams between the skull bones close earlier than normal. This affects the ... causes some of the bony sutures of the skull to close too early. This condition is called ...

  16. Treatment of the hands and feet in Apert syndrome: an evolution in management.

    PubMed

    Fearon, Jeffrey A

    2003-07-01

    Apert syndrome is a relatively uncommon condition that is instantly recognizable on the basis of the pan-syndactylies involving both the hands and feet. For more than 10 years, the treatment of Apert syndrome hand and foot anomalies was approached in a comprehensive manner, with attempts to maximize the final results and minimize the total number of operations. Numerous conventions were abandoned in the development of this approach, with the introduction of some new methodologies, including (1) release of all 10 fingers, and toes, in only two operations, (2) elimination of routine digital amputations, (3) abandonment of the zigzag incision in favor of straight-line release, (4) substitution of equal-length anterior and posterior flaps for the long dorsal web space lining flap, (5) leaving of small areas of exposed bone without vascularized tissue coverage, and (6) performance of midphalangeal osteotomies, among older children, to improve hand function. Fifty-seven children with Apert syndrome have been treated at the author's center since 1990, and 43 underwent surgical treatment of their hands and feet by a single surgeon. Treatment can be separated into two phases, early (syndactyly releases) and late (functional osteotomies). Seventeen of those 43 patients were treated at the author's center from birth (type I, 11 patients; type II, two patients; type III, four patients), and 10 fingers and 10 toes were achieved for all patients in two operations. No digital amputations were performed for any of the 43 patients. However, four of 26 patients (15 percent) not treated at the author's center from birth had undergone at least one digital amputation before coming to the center. Twenty-two of those 26 patients required a two-stage syndactyly release to accomplish the separation of all 10 fingers and toes. Aside from the patients who had previously undergone amputations, all other patients successfully achieved 10 fingers and toes, except for one patient (38 of 39

  17. Withdrawal of Continuous Positive Airway Pressure Therapy after Malar Advancement and Le Fort II Distraction in a Case of Apert Syndrome with Obstructive Sleep Apnea

    PubMed Central

    Onda, Nobuto; Chiba, Shintaro; Moriwaki, Hiroto; Sawai, Rika; Yoshigoe, Akira; Watanabe, Subaru; Ando, Yuji; Uchida, Ryo; Miyawaki, Takeshi; Wada, Kota

    2015-01-01

    Apert syndrome is a congenital syndrome characterized by craniosynostosis and craniofacial dysostosis, among other features, and is reported to cause obstructive sleep apnea (OSA) because of upper airway narrowing associated with midfacial dysplasia. We recently encountered a case involving a patient with Apert syndrome complicated by OSA who began to receive continuous positive airway pressure (CPAP) therapy at the age of 4. OSA resolved after maxillofacial surgery performed at the age of 11, and CPAP was eventually withdrawn. In pediatric patients with maxillofacial dysplasia complicated by OSA, a long-term treatment plan including CPAP in addition to maxillofacial plastic and reconstructive surgery should be considered in view of the effects of OSA on growth. PMID:26473084

  18. The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.

    PubMed

    Zhou, Xia; Pu, Dongquan; Liu, Ri; Li, Xiangjie; Wen, Xiujie; Zhang, Li; Chen, Lin; Deng, Manjing; Liu, Luchuan

    2013-05-01

    Apert syndrome is a common craniosynostosis caused by gain-of-function missense mutations of fibroblast growth factor receptor 2 (FGFR2). Mice with the FGFR2 S252W mutation can elucidate the mechanism by which the human Apert syndrome phenotypes arise. However, many studies have focused on mutant skull and long bone malformation, only few studies have focused on mandible changes. Bone formation and micro-architecture between 28- and 56-day-old mutant mice and controls were compared to investigate the changes in the mandibular micro-architecture caused by the Fgfr2(S252W/+) mutation to provide a basis for exploring the pathogenesis and therapeutic measures of human Apert syndrome. Fgfr2(S252W/+) mutant mice were established, and their general characteristics, including weight, naso-anal length, and calcium and phosphate content in serum and bone were tested. Calcein labeling, tartrate-resistant acid phosphatase staining and toluidine blue staining were used to detect osteoblast and osteoclast activities. H&E staining and micro-CT detection were used to test micro-architecture changes. The changes in mineral apposition rate and micro-architecture of the Fgfr2(S252W/+) mice were statistically significant; however, the magnitude of the micro-architecture became less with age. The Fgfr2(S252W/+) mutation may retard mandibular bone formation, decreased bone volume, and compromised skeletal architecture by regulating both osteoblastogenesis and osteoclastogenesis.

  19. Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model.

    PubMed

    Hajihosseini, Mohammad K; Duarte, Raquel; Pegrum, Jean; Donjacour, Anne; Lana-Elola, Eva; Rice, David P; Sharpe, James; Dickson, Clive

    2009-02-01

    Apert syndrome (AS) is a severe congenital disease caused by mutations in fibroblast growth factor receptor-2 (FGFR2), and characterised by craniofacial, limb, visceral, and neural abnormalities. AS-type FGFR2 molecules exert a gain-of-function effect in a ligand-dependent manner, but the causative FGFs and their relative contribution to each of the abnormalities observed in AS remains unknown. We have generated mice that harbour an AS mutation but are deficient in or heterozygous for Fgf10. The genetic knockdown of Fgf10 can rescue the skeletal as well as some of the visceral defects observed in this AS model, and restore a near normal level of FgfR2 signaling involving an apparent switch between ERK(p44/p42) and p38 phosphorylation. Surprisingly, it can also yield de novo cleft palate and blind colon in a subset of the compound mutants. These findings strongly suggest that Fgf10 contributes to AS-like pathologies and highlight a complexity of Fgf10 function in different tissues.

  20. Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

    PubMed Central

    Hernández, Gualberto; Barrera, Alejandro; Ospina, Sandra; Prada, Rolando

    2015-01-01

    Introduction: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. Methods: Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen. Results: Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function. PMID:26600631

  1. [Air-Q® intubating laryngeal airway as a conduit for tracheal intubation in a patient with Apert syndrome: a case report].

    PubMed

    Nishimoto, Kenta; Kariya, Nobutaka; Iwasaki, Yohei; Shii, Hiromi; Sugi, Takashi; Tatara, Tsuneo; Hirose, Munetaka

    2014-10-01

    We present a case of an 18-year-old male who underwent strabismus operation under general anesthesia. In his childhood, tracheostomy had been performed for the repair of cleft lip and palate. His Mallampati classification was IV and preoperative endoscopic examination revealed megaloglossia and severe airway narrowing. For possible difficult airway, intubating laryngeal airway (air-Q®, size 2.5) was used for tracheal intubation. Following insertion of air-Q®, trachea was intubated via air-Q® guided with fiberscope. The patient was ventilated via tracheal tube with the air-Q® remaining in place during the operation. air-Q® can be effectively utilized for airway management for an adult Apert syndrome patient

  2. Mosaic paternal genome-wide uniparental isodisomy with down syndrome.

    PubMed

    Darcy, Diana; Atwal, Paldeep Singh; Angell, Cathy; Gadi, Inder; Wallerstein, Robert

    2015-10-01

    We report on a 6-month-old girl with two apparent cell lines; one with trisomy 21, and the other with paternal genome-wide uniparental isodisomy (GWUPiD), identified using single nucleotide polymorphism (SNP) based microarray and microsatellite analysis of polymorphic loci. The patient has Beckwith-Wiedemann syndrome (BWS) due to paternal uniparental disomy (UPD) at chromosome location 11p15 (UPD 11p15), which was confirmed through methylation analysis. Hyperinsulinemic hypoglycemia is present, which is associated with paternal UPD 11p15.5; and she likely has medullary nephrocalcinosis, which is associated with paternal UPD 20, although this was not biochemically confirmed. Angelman syndrome (AS) analysis was negative but this testing is not completely informative; she has no specific features of AS. Clinical features of this patient include: dysmorphic features consistent with trisomy 21, tetralogy of Fallot, hemihypertrophy, swirled skin hyperpigmentation, hepatoblastoma, and Wilms tumor. Her karyotype is 47,XX,+21[19]/46,XX[4], and microarray results suggest that the cell line with trisomy 21 is biparentally inherited and represents 40-50% of the genomic material in the tested specimen. The difference in the level of cytogenetically detected mosaicism versus the level of mosaicism observed via microarray analysis is likely caused by differences in the test methodologies. While a handful of cases of mosaic paternal GWUPiD have been reported, this patient is the only reported case that also involves trisomy 21. Other GWUPiD patients have presented with features associated with multiple imprinted regions, as does our patient. PMID:26219535

  3. Paternalism and egregious harm: Prader-Willi Syndrome and the importance of care.

    PubMed

    Groarke, Louis

    2000-07-01

    Paternalism clashes with the usual liberal model. In this paper I argue that attempts to defend even a limited form of paternalism by liberal authors such as Joel Feinberg, Gerald Dworkin and H.L.A. Hart fail. I propose instead a bivalent model for paternalism that appeals to two separate principles: the no-harm principle and the care-principle. The notion of care discussed by contemporary feminist authors is a fundamental moral archetype that permeates history and culture. I go on to consider the case of patients with Prader-Willi Syndrome and argue that paternalism is not only permissible but imperative in cases in egregious harm. This view is enshrined in common law jurisprudence which dismisses consent as a justification in serious crime.

  4. Paternal Contribution to Down's Syndrome Dispels Maternal Myths.

    ERIC Educational Resources Information Center

    Abroms, Kippy I.; Bennett, Joan W.

    The paper refutes the long held belief that Down's syndrome is the result of maternal age and maternal etiology. The author cites new evidence which demonstrates that Trisomy-21 (the presence in the chromosome of an extra arcocentric chromosome resulting from non-disjunction), the major cause (95% of the cases) of Down's syndrome, can originate in…

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

    SciTech Connect

    Bottani, A.; Robinson, W.P.; DeLoizer-Blanchet, C.D.; Engel, E.; Morris, M.A.; Schmitt, Thun-Hohenstein, L.; Schinzel, A.

    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; both 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.

  6. 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

  7. 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

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

    PubMed

    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

  9. Eugène Apert and his Contributions to Plastic Surgery

    PubMed Central

    Lee, Dennis S.; Chung, Kevin C.

    2015-01-01

    French pediatrician Eugène Apert is best known for his 1906 description of the eponymous Apert’s Syndrome: the widely recognized congenital condition that is known as acrocephalosyndactyly, which is characterized by distinct craniofacial deformities and bilateral syndactyly of the hands and feet. Subsequent efforts to study and treat this condition have led to contributions from numerous medical and surgical specialties under the guidance of plastic surgery. Apert’s influence on medicine, however, extends far beyond what can be appreciated by the impact of his eponymous syndrome. Considered one of France’s eminent pediatricians, Apert additionally made important contributions to the study of adult diseases. He was also a founding member of the French Eugenics Society, serving as its secretary general and president in a tenure that lasted for most of his career. Apert’s medical contributions within the context of this scientific ideology make him an important and potentially controversial figure in medicine. PMID:20179491

  10. 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.

  11. Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.

    PubMed

    Nicita, Francesco; Garone, Giacomo; Papetti, Laura; Consoli, Federica; Magliozzi, Monia; De Luca, Alessandro; Spalice, Alberto

    2015-01-01

    Myoclonic status in nonprogressive encephalopathy (MSNE) is an early-onset, drug-resistant epileptic syndrome characterized by occurrence of continuous diffuse epileptiform abnormalities, associated with positive and/or negative phenomena and accompanied by transient and recurring motor, cognitive, and behavioral impairment. MSNE has been reported in Angelman syndrome (AS) secondary to 15q11-13 deletions or UBE3A mutations but not to paternal uniparental disomy (UPD). We describe the case of a male patient with AS caused by UPD who developed a myoclonic status (MS) associated with long-lasting fever of central origin, both promptly regressed with introduction of levetiracetam. Only three descriptions of thermal dysregulation in AS exist, and none of the previously reported cases were associated with MS or with UPD. Association of MS and central fever expands the spectrum of epileptic and non-epileptic features in UPD-related AS and provides a further evidence of hypothalamus involvement in the pathogenesis of this neurodevelopmental disorder. PMID:26559560

  12. Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann Syndrome

    SciTech Connect

    Bischoff, F.Z.; McCaskill, C.; Subramanian, S.

    1994-09-01

    Beckwith-Wiedemann Syndrome (BWS) is characterized by numerous growth abnormalities including exomphalos, macroglossia, gigantism, and hemihypertrophy or hemihyperplasia. The {open_quotes}BWS gene{close_quotes} appears to be maternally repressed and is suspected to function as a growth factor or regulator of somatic growth, since activation of this gene through a variety of mechanisms appears to result in somatic overgrowth and tumor development. Mosaic paternal isodisomy of 11p has been observed previously by others in patients with BWS by Southern blot analysis of genomic DNA. The interpretation of these results was primarily based on the intensities of the hybridization signals for the different alleles. In our study, we demonstrate somatic mosaicism directly through PCR and single cell analysis. Peripheral blood was obtained from a patient with BWS and initial genomic DNA analysis by PCR was suggestive of somatic mosaicism for paternal isodisomy of 11p. Through micromanipulation, single cells were isolated and subjected to primer extention preamplification. Locus-specific microsatellite marker analyses by PCR were performed to determine the chromosome 11 origins in the preamplified individual cells. Two populations of cells were detected, a population of cells with normal biparental inheritance and a population of cells with paternal isodisomy of 11p and biparental disomy of 11q. Using the powerful approach of single cell analysis, the detected somatic mosaicism provides evidence for a mitotic recombinational event that has resulted in loss of the maternal 11p region and gain of a second copy of paternal 11p in some cells. The direct demonstration of mosaicism may explain the variable phenotypes and hemihypertrophy often observed in BWS.

  13. Monobloc minus Le Fort II for single-stage treatment of the Apert phenotype.

    PubMed

    Paliga, James Thomas; Goldstein, Jesse A; Storm, Phillip B; Taylor, Jesse Adam

    2013-07-01

    Treatment of the Apert syndrome phenotype aims to correct airway obstruction, exorbitism, elevated intracranial pressure, midface hypoplasia, and malocclusion. Cranial vault expansion prevents elevated intracranial pressure, normalizes head shape, and protects the globes, but variation exists in surgical timing and osteotomy to treat the midface. We present the case of an 11-year-old female patient with Apert syndrome and no prior surgical interventions who presented with severe turribrachycephaly, exorbitism, severe midface retrusion, and apertognathia. A monobloc distraction with simultaneous Le Fort II distraction was planned using computer-aided design and modeling (CAD/CAM) techniques to provide for concurrent distraction of the segments in independent vectors without bony interferences. Monobloc minus Le Fort II distraction was performed without intraoperative complications. Surgical time was 340 minutes with an estimated blood loss of 1100 mL. Distraction began on postoperative day 5 at a rate of 1.5 mm/day for the Le Fort II via an external Halo distractor and 1 mm/day for the monobloc segment via internal distractors anchored bitemporally. The monobloc was distracted a total of 17 mm in a horizontal vector, while the Le Fort II segment was distracted 18 mm horizontally and 5 mm inferiorly. The Halo distractor was removed 3 months following the procedure and the internal distractors 1 month later. Monobloc minus Le Fort II distraction enables correction of the Apert phenotype with a single-stage approach, potentially decreasing the burden of care with improved results. Utilization of CAD/CAM modeling allows for accurate planning of multisegment distraction in independent vectors without concerns for bony interferences.

  14. Monobloc minus Le Fort II for single-stage treatment of the Apert phenotype.

    PubMed

    Paliga, James Thomas; Goldstein, Jesse A; Storm, Phillip B; Taylor, Jesse Adam

    2013-03-01

    Treatment of the Apert syndrome phenotype aims to correct airway obstruction, exorbitism, elevated intracranial pressure, midface hypoplasia, and malocclusion. Cranial vault expansion prevents elevated intracranial pressure, normalizes head shape, and protects the globes, but variation exists in surgical timing and osteotomy to treat the midface. We present the case of an 11-year-old female patient with Apert syndrome and no prior surgical interventions who presented with severe turribrachycephaly, exorbitism, severe midface retrusion, and apertognathia. A monobloc distraction with simultaneous Le Fort II distraction was planned using computer-aided design and modeling (CAD/CAM) techniques to provide for concurrent distraction of the segments in independent vectors without bony interferences.Monobloc minus Le Fort II distraction was performed without intraoperative complications. Surgical time was 340 minutes with an estimated blood loss of 1100 mL. Distraction began on postoperative day 5 at a rate of 1.5 mm/day for the Le Fort II via an external Halo distractor and 1 mm/day for the monobloc segment via internal distractors anchored bitemporally. The monobloc was distracted a total of 17 mm in a horizontal vector, while the Le Fort II segment was distracted 18 mm horizontally and 5 mm inferiorly. The Halo distractor was removed 3 months following the procedure and the internal distractors 1 month later. Monobloc minus Le Fort II distraction enables correction of the Apert phenotype with a single-stage approach, potentially decreasing the burden of care with improved results. Utilization of CAD/CAM modeling allows for accurate planning of multisegment distraction in independent vectors without concerns for bony interferences.

  15. Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors.

    PubMed

    Bertoin, F; Letouzé, E; Grignani, P; Patey, M; Rossignol, S; Libé, R; Pasqual, C; Lardière-Deguelte, S; Hoeffel-Fornes, C; Gaillard, D; Previderè, C; Delemer, B; Lalli, E

    2015-06-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by fetal macrosomia, macroglossia, and abdominal wall defects. BWS patients are at risk to develop Wilms tumor, neuroblastoma, hepatoblastoma, and adrenal tumors. A young woman with BWS features, but with inconclusive genetic evidence for the disease, came to clinical observation for signs of virilization at the age of 16 years. An adrenocortical tumor was diagnosed and surgically resected. The tumor underwent 2 local relapses that were also surgically treated. The patient was also operated to remove a breast fibroadenoma. SNP arrays were used to analyze chromosome abnormalities in normal and tumor samples from the patient and her parents. The patient presented genome-wide mosaic paternal uniparental disomy (patUPD) both in the adrenocortical and the breast tumors, with different degrees of loss of heterozygosity (LOH). The more recent relapses of the adrenocortical tumor showed a loss of part of chromosome 17p that was absent in the first tumor. Analysis of a skin biopsy sample also showed mosaic patUPD with partial LOH, while no LOH was detected in leukocyte DNA. This case shows that virilizing adrenocortical tumors may be a clinical feature of patients with BWS. The SNP array technology is useful to diagnose genome-wide patUPD mosaicism in BWS patients with an inconclusive molecular diagnosis and underlines the tumorigenic potential of the absence of the maternal genome combined with an excess of the paternal genome.

  16. Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors.

    PubMed

    Bertoin, F; Letouzé, E; Grignani, P; Patey, M; Rossignol, S; Libé, R; Pasqual, C; Lardière-Deguelte, S; Hoeffel-Fornes, C; Gaillard, D; Previderè, C; Delemer, B; Lalli, E

    2015-06-01

    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by fetal macrosomia, macroglossia, and abdominal wall defects. BWS patients are at risk to develop Wilms tumor, neuroblastoma, hepatoblastoma, and adrenal tumors. A young woman with BWS features, but with inconclusive genetic evidence for the disease, came to clinical observation for signs of virilization at the age of 16 years. An adrenocortical tumor was diagnosed and surgically resected. The tumor underwent 2 local relapses that were also surgically treated. The patient was also operated to remove a breast fibroadenoma. SNP arrays were used to analyze chromosome abnormalities in normal and tumor samples from the patient and her parents. The patient presented genome-wide mosaic paternal uniparental disomy (patUPD) both in the adrenocortical and the breast tumors, with different degrees of loss of heterozygosity (LOH). The more recent relapses of the adrenocortical tumor showed a loss of part of chromosome 17p that was absent in the first tumor. Analysis of a skin biopsy sample also showed mosaic patUPD with partial LOH, while no LOH was detected in leukocyte DNA. This case shows that virilizing adrenocortical tumors may be a clinical feature of patients with BWS. The SNP array technology is useful to diagnose genome-wide patUPD mosaicism in BWS patients with an inconclusive molecular diagnosis and underlines the tumorigenic potential of the absence of the maternal genome combined with an excess of the paternal genome. PMID:25365508

  17. Simultaneous Le Fort I, II, and III osteotomies for correction of midface deficiency in Apert disease.

    PubMed

    Dai, Jiewen; Wang, Xudong; Yu, Hongbo; Cheng, Jie; Yuan, Hao; Gui, Haijun; Shen, Shunyao; Shen, Guofang

    2012-09-01

    Le Fort III osteotomy was usually applied to correct midface hypoplasia in Apert syndrome, and various surgical modifications have been developed in recent years. In this article, we reported the simultaneous Le Fort I, II, and III osteotomies for segmental advancement of midface deficiency involving nasal bones, zygoma, inferior orbital rims, and maxilla in an adult Chinese patient with Apert syndrome. To achieve the ideal advancement of different parts of midface simultaneously, we divided the midface into 4 segments, including nasal bone combined with upper portion of maxilla, lower portion of maxilla, and left and right zygoma, with simultaneous Le Fort I, Le Fort II, and Le Fort III osteotomies, and each segment was repositioned as required respectively to obtain ideal facial aesthetics and favorable occlusion. The long-term stability of bony segment advancements also was observed during 7-year follow-up. Compared with segmental distraction osteogenesis or multiple-stage surgery, which mainly applied to younger patients with more severe midface hypoplasia, this single-stage strategy offered a reliable surgical alternative for treating adult patient with midface hypoplasia that should be corrected in different levels.

  18. Decrease in the CGGn trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission.

    PubMed

    Väisänen, M L; Haataja, R; Leisti, J

    1996-09-01

    The fragile X syndrome, the most common inherited form of mental retardation, is caused by the expansion of a CGGn trinucleotide repeat in the FMR-1 gene. Although the repeat number usually increases during transmission, few cases with reduction of an expanded CGGn repeat back to the normal size range have been reported. We describe for the first time a family in which such reduction has occurred in the paternal transmission. The paternal premutation (delta = 300 bp) was not detected in one of the five daughters or in the son of this daughter, although he had the grandpaternal RFLP haplotype. Instead, fragments indicating the normal CGGn repeat size were seen on a Southern blot probed with StB12.3. PCR analysis of the CGGn repeat confirmed this; in addition to a maternal allele of 30 repeats, an allele of 34 repeats was detected in the daughter and, further, in her son. Sequencing of this new allele revealed a pure CGGn repeat configuration without AGG interruptions. No evidence for a somatic mosaicism of a premutation allele in the daughter or a normal allele in her father was detected when investigating DNA derived from blood lymphocytes and skin fibroblasts. Another unusual finding in this family was lack of the PCR product of the microsatellite marker RS46 (DXS548) in one of the grandmaternal X chromosomes, detected as incompatible inheritance of RS46 alleles. The results suggest an intergenerational reduction in the CGGn repeat from premutation size to the normal size range and stable transmission of the contracted repeat to the next generation. However, paternal germ-line mosaicism could not be excluded as an alternative explanation for the reverse mutation.

  19. 3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

    PubMed

    Vergaelen, Elfi; Swillen, Ann; Van Esch, Hilde; Claes, Stephan; Van Goethem, Gert; Devriendt, Koenraad

    2015-04-01

    In this case report, we present a paternal transmission of a classic 3 Mb 22q11.2 deletion syndrome (22q11.2 DS) in a 3 generation family. In this family a young girl, her father, her uncle and her grandfather were diagnosed with this disorder. All carriers showed phenotypic expression, there were no unaffected siblings in the second or third generation. Presenting symptoms in the patient in first generation (grandfather) were psoriatic arthritis, thrombocytopenia and a right aortic arch. There was no intellectual disability. The second generation uncle was known with a severe intellectual disability, mild facial characteristics, a septal defect and a clubfoot, whereas the second generation father had a tetralogy of Fallot, no intellectual disability and minimal facial characteristics. The third generation daughter had a moderate intellectual disability, hypernasal speech, triphalangeal thumb, severe speech and language development delay, pronounced facial characteristics and a diagnosis of ADHD. It was notable that the expression in the two brothers of the second generation gives two very different clinical phenotypes with a severe intellectual disability in the oldest brother. This report describes a pronounced clinical variability in a 3 generation familial 22q11.2 deletion with paternal transmission. We can assume that several mechanisms play an important role in the heterogeneity and part of the answer should be found in the genetic background underlying the 22q11.2 deletion. In addition in this family the neuropsychiatric phenotype and intellectual disability seem to be associated with a lower level of social and occupational functioning while a congenital heart disease does not. This clinical report illustrates that a detailed description of these patients can be very informative and still increase the knowledge on this heterogeneous syndrome. For the clinicians working with these patients it emphasizes the need for a multidisciplinary approach that takes

  20. Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model

    PubMed Central

    Meng, Linyan; Person, Richard Erwin; Huang, Wei; Zhu, Ping Jun; Costa-Mattioli, Mauro; Beaudet, Arthur L.

    2013-01-01

    Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating the silenced paternal allele of Ube3a by depleting its antisense RNA Ube3a-ATS in mice. Premature termination of Ube3a-ATS by poly(A) cassette insertion activates expression of Ube3a from the paternal chromosome, and ameliorates many disease-related symptoms in the AS mouse model, including motor coordination defects, cognitive deficit, and impaired long-term potentiation. Studies on the imprinting mechanism of Ube3a revealed a pattern of biallelic transcription initiation with suppressed elongation of paternal Ube3a, implicating transcriptional collision between sense and antisense polymerases. These studies demonstrate the feasibility and utility of unsilencing the paternal copy of Ube3a via targeting Ube3a-ATS as a treatment for Angelman syndrome. PMID:24385930

  1. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    SciTech Connect

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. ); Magnuson, L.; Thomas, E.; Herrmann, J. ); Gendron, R. )

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  2. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  3. Late paternities.

    PubMed

    Cohen, Jean

    2007-06-01

    Late paternities are frequent. Very often these couples ask for medically assisted procreation. In general, it is considered that the couple should not be treated differently from the couple where the father is younger. Recent studies show a certain number of specific risks linked to the late paternities. Doctors and society do not act in the same way towards men and women: a 'sensible age' for women to no longer attempt pregnancy has been set in many countries at 42 years of age, whereas men aged 80 can benefit from IVF attempts and be reimbursed by the state or insurance companies. This is an obvious inequity. PMID:17579995

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

    SciTech Connect

    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 was 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.

  5. Decrease in the CGG{sub n} trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission

    SciTech Connect

    Vaeisaenen, M.L.; Haataja, R.; Leisti, J.

    1996-09-01

    The fragile X syndrome, the most common inherited form of mental retardation, is caused by the expansion of a CGG{sub n} trinucleotide repeat in the FMR-1 gene. Although the repeat number usually increases during transmission, few cases with reduction of an expanded CGG{sub n} repeat back to the normal size range have been reported. We describe for the first time a family in which such reduction has occurred in the paternal transmission. The paternal premutation ({Delta} = 300 hp) was not detected in one of the five daughters or in the son of this daughter, although he had the grandpaternal RFLP haplotype. Instead, fragments indicating the normal CGG{sub n} repeat size were seen on a Southern blot probed with StB12.3. PCR analysis of the CGG{sub n} repeat confirmed this; in addition to a maternal allele of 30 repeats, an allele of 34 repeats was detected in the daughter and, further, in her son. Sequencing of this new allele revealed a pure CGG{sub n} repeat configuration without AGG interruptions. No evidence for a somatic mosaicism of a premutation allele in the daughter or a normal allele in her father was detected when investigating DNA derived from blood lymphocytes and skin fibroblasts. Another unusual finding in this family was lack of the PCR product of the microsatellite marker RS46 (DXS548) in one of the grandmaternal X chromosomes, detected as incompatible inheritance of RS46 alleles. The results suggest an intergenerational reduction in the CGG{sub n} repeat from premutation size to the normal size range and stable transmission of the contracted repeat to the next generation. However, paternal germ-line mosaicism could not be excluded as an alternative explanation for the reverse mutation. 37 refs., 4 figs.

  6. Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome

    PubMed Central

    Grati, F R; Turolla, L; D'Ajello, P; Ruggeri, A; Miozzo, M; Bracalente, G; Baldo, D; Laurino, L; Boldorini, R; Frate, E; Surico, N; Larizza, L; Maggi, F; Simoni, G

    2007-01-01

    Background The phenotypic variability in Beckwith–Wiedemann syndrome (BWS) reflects the genetic heterogeneity of the mechanism which by default leads to the deregulation of genes located at 11p15.5. Genotype–phenotype correlation studies have demonstrated an association between omphalocoele and CDKN1C/p57 mutations or hypermethylation. Paternal uniparental disomy 11 (pUPD11) has been described only in the mosaic condition with both uniparental and biparental cell lines, and no association with omphalocoele has been pointed out. Methods Two cases are presented here, in which a paternal segmental UPD11 was detected by molecular investigation of amniotic fluid cell cultures after the presence of apparently isolated omphalocoele was revealed in the fetuses by ultrasound scan. Further studies were performed on additional autoptic feto‐placental tissues to characterise the distribution of the uniparental cell line and to unmask any biparental lineage in order to document in more detail the as yet unreported association between omphalocoele and pUPD11. Results Results on the UPD distribution profile showed that the abdominal organs have a predominant uniparental constitution. This condition could mimic the effect of CDKN1C/p57 inactivation, causing the omphalocoele. Conclusion New genotype–phenotype correlations emerge from the investigated cases, suggesting that molecular analysis be extended to all cases with fetal omphalocoele in order to establish the incidence of pUPD11 in complete BWS and in monosymptomatic/mild forms. PMID:17259293

  7. Relating paternity to paternal care.

    PubMed Central

    Sheldon, Ben C

    2002-01-01

    Intuition suggests, to most people, that parents should be selected to care for their offspring in relation to how certain they are of being the parents of those offspring. Theoretical models of the relationship between parental investment and certainty of parentage predict the two to be related only when some other assumptions are made, few of which can be taken for granted. I briefly review the models and their assumptions, and discuss two kinds of difficulty facing an empiricist wishing to test the models. The first is the problem of unmeasured (and immeasurable) variables. The second is the problem that even the most extensive models do not capture the complexity that can be demonstrated in real systems. I illustrate some of these problems, and some qualitative tests of the models, with experimental work on a population of the collared flycatcher. My conclusion is that although there are some cases where the models have qualitative support, we are a long way from understanding whether paternal care is commonly adjusted in relation to certainty of paternity. PMID:11958702

  8. Paternal Uniparental Disomy 11p15.5 in the Pancreatic Nodule of an Infant With Costello Syndrome: Shared Mechanism for Hyperinsulinemic Hypoglycemia in Neonates With Costello and Beckwith–Wiedemann Syndrome and Somatic Loss of Heterozygosity in Costello Syndrome Driving Clonal Expansion

    PubMed Central

    Gripp, Karen W.; Robbins, Katherine M.; Sheffield, Brandon S.; Lee, Anna F.; Patel, Millan S.; Yip, Stephen; Doyle, Daniel; Stabley, Deborah; Sol-Church, Katia

    2016-01-01

    Costello syndrome (CS) entails a cancer predisposition and is caused by activating HRAS mutations, typically arising de novo in the paternal germline. Hypoglycemia is common in CS neonates. A previously reported individual with the rare HRAS p.Gln22Lys had hyperinsulinemic hypoglycemia. Autopsy showed a discrete pancreatic nodule. The morphologic and immunohistochemistry findings, including loss of p57Kip2 protein, were identical to a focal lesion of congenital hyperinsulinism, however, no KCNJ11 or ABCC8 mutation was identified and germline derived DNA showed no alternation of the maternal or paternal 11p15 alleles. Here we report paternal uniparental disomy (pUPD) within the lesion, similar to the pUPD11p15.5 in Beckwith–Wiedemann syndrome (BWS). The similar extent of the pUPD suggests a similar mechanism driving hyperinsulinemia in both conditions. After coincidental somatic LOH and pUPD, the growth promoting effects of the paternally derived HRAS mutation, in combination with the increased function of the adjacent paternally expressed IGF2, may together result in clonal expansion. Although this somatic LOH within pancreatic tissue resulted in hyperinsulinism, similar LOH in mesenchymal cells may drive embryonal rhabdomyosarcoma (ERMS). Interestingly, biallelic IGF2 expression has been linked to rhabdomyosarcoma tumorigenesis and pUPD11 occurred in all 8 ERMS samples from CS individuals. Somatic KRAS and HRAS mutations occur with comparable frequency in isolated malignancies. Yet, the malignancy risk in CS is notably higher than in Noonan syndrome with a KRAS mutation. It is conceivable that HRAS co-localization with IGF2 and the combined effect of pUPD 11p15.5 on both genes contributes to the oncogenic potential. PMID:26572961

  9. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    PubMed Central

    Venegas-Vega, Carlos A.; Zepeda, Luis M.; Garduño-Zarazúa, Luz M.; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling. PMID:23484094

  10. 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

  11. S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.

    PubMed

    Ke, Ronghu; Yang, Xianxian; Ge, Min; Cai, Tianyi; Lei, Jiaqi; Mu, Xiongzheng

    2015-03-01

    It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome. PMID:25759927

  12. Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

    PubMed

    Thompson, Russell John; Bolton, Patrick F

    2003-04-01

    The case of a 15-year-old male with Angelman syndrome, paternal uniparental disomy of chromosome 15, and a small supernumerary marker chromosome is discussed. Assessment of cognitive functioning revealed an uneven profile of ability across different domains; in particular, receptive language ability was found to be superior to expressive language ability, whilst both gross and fine motor skills were found to be relatively well developed. Assessment using the Autism Diagnostic Observation Schedule showed very little evidence of autistic symptomatology. The patient showed an interest in social interaction and used a variety of methods to communicate, including some gestures and several single words. A clinical history revealed febrile convulsions during childhood but an absence of seizures in the previous 5 years. The patient was not hypopigmented, and height, weight, and head circumference were within the normal range for his age. The implications of these features are discussed in the context of previous work describing a milder phenotype in nondeletion cases of Angelman syndrome and work that has examined the prevalence of autism spectrum disorders amongst individuals with Angelman syndrome.

  13. 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).

  14. Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin.

    PubMed Central

    Blanco, J; Gabau, E; Gómez, D; Baena, N; Guitart, M; Egozcue, J; Vidal, F

    1998-01-01

    Between April 1991 and December 1994, epidemiological studies detected a population with a high prevalence of Down syndrome in El Vallès, Spain. Parallel double studies were carried out to determine the parental and the meiotic origins of the trisomy 21, by use of DNA polymorphisms, and to establish the incidence of disomy 21 in the spermatozoa of the fathers of affected children, by use of multicolor FISH. Results show that the overall incidence of chromosome 21 disomy in the fathers of affected children was not significantly different from that in the control population (0.31% vs. 0.37%). However, analysis of individual data demonstrates that two cases (DP-4 and DP-5) with significant increases of disomy 21 (0. 75% and 0.78% vs. 0.37%) correspond to the fathers of the two individuals with Down syndrome of paternal origin. DP-5 also had a significant increase of sex-chromosome disomies (0.69% vs. 0.37%) and of diploid spermatozoa (1.13% vs. 0.24%). PMID:9758616

  15. Paternal occupation and anencephaly

    SciTech Connect

    Brender, J.D.; Suarez, L. )

    1990-03-01

    It has been suggested that paternal occupational exposures to pesticides and solvents increase the risk of neural tube defects in offspring. With the use of Texas livebirth, fetal death, and linked livebirth-death records, the authors conducted a population-based case-control study among 1981-1986 Texas births to examine the association between paternal occupation and anencephalic births. Fathers employed in occupations associated with solvent exposure were more likely to have offspring with anencephaly (odds ratio (OR) = 2.53), with painters having the highest risk (OR = 3.43). A lesser association was found for fathers employed in occupations involving pesticide exposure (OR = 1.28). Further studies are indicated to clarify these associations.

  16. Paternal age bioethics.

    PubMed

    Smith, Kevin R

    2015-09-01

    Modern genetic sequencing studies have confirmed that the sperm of older men contain a greater number of de novo germline mutations than the sperm of younger men. Although most of these mutations are neutral or of minimal phenotypic impact, a minority of them present a risk to the health of future children. If demographic trends towards later fatherhood continue, this will likely lead to a more children suffering from genetic disorders. A trend of later fatherhood will accelerate the accumulation of paternal-origin de novo mutations in the gene pool, gradually reducing human fitness in the long term. These risks suggest that paternal age is of ethical importance. Children affected by de novo mutations arising from delayed fatherhood can be said to be harmed, in the sense of 'impersonal' harm or 'non-comparative' harm. Various strategies are open at societal and individual levels towards reducing deleterious paternal age effects. Options include health education to promote earlier fatherhood, incentives for young sperm donors and state-supported universal sperm banking. The latter approach would likely be of the greatest benefit and could in principle be implemented immediately. More futuristically, human germline genetic modification offers the potential to repair heritable mutational damage. PMID:26037282

  17. Human mutagens: evidence from paternal exposure

    SciTech Connect

    Narod, S.A.; Douglas, G.R.; Nestmann, E.R.; Blakey, D.H.

    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 neither 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.

  18. Paternalism and medical ethics.

    PubMed

    Gillon, R

    1985-06-29

    In one of a series of articles on philosophical medical ethics, Gillon considers various moral arguments in support of medical paternalism. He maintains that the utilitarian principle of maximizing happiness by improving health, minimizing suffering, and prolonging life is not promoted by granting physicians the authority to deceive patients or to make decisions for them in areas of moral and subjective choice. If one wants to do good for a patient, one generally needs to find out what the patient wants one to do. Gillon concludes that many utilitarians agree with deontologists that respect for autonomy is required if human welfare really is to be maximized.

  19. Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p.

    PubMed

    Sharma, Pankaj; Gupta, Neerja; Chowdhury, Madhumita R; Sapra, Savita; Shukla, Rashmi; Lall, Meena; Kabra, Madhulika

    2013-09-01

    5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases. Clinical features include developmental delay, microcephaly, subtle facial dysmorphism and high-pitched cry. With the advent of newer techniques such as multiplex ligation-dependent probe amplification, rapid diagnosis is possible and chromosomal microarray helps in accurate delineation of the breakpoints. In this study, we characterized probands from two Indian families who had duplication of another chromosome in addition to deletion of 5p region. In the first family, two females of 3 and 5 yr of age had deletion of 5p15.33p15.2 (14.7 Mb) and duplication of 8q24.21q24.3 (15.4 Mb). Proband in the second family was a 2-year-old female and had deletion of 5p15.33p14.3 (22.55 Mb) along with duplication of 12p13.33p13.31 (7.7 Mb). In both the families, father was balanced translocation carrier of the chromosomes involved. Patients in family 1 had overwhelming features of 5p deletion while patient in family 2, besides having features of 5p deletion, showed many features of 12p duplications. Prenatal diagnosis was possible in both the families. To the best of our knowledge, this is the first detailed molecular cytogenetic analysis and prenatal diagnosis report of 5p deletion syndrome from India. PMID:27625854

  20. Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p

    PubMed Central

    Sharma, Pankaj; Gupta, Neerja; Chowdhury, Madhumita R.; Sapra, Savita; Shukla, Rashmi; Lall, Meena; Kabra, Madhulika

    2013-01-01

    5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases. Clinical features include developmental delay, microcephaly, subtle facial dysmorphism and high-pitched cry. With the advent of newer techniques such as multiplex ligation-dependent probe amplification, rapid diagnosis is possible and chromosomal microarray helps in accurate delineation of the breakpoints. In this study, we characterized probands from two Indian families who had duplication of another chromosome in addition to deletion of 5p region. In the first family, two females of 3 and 5 yr of age had deletion of 5p15.33p15.2 (14.7 Mb) and duplication of 8q24.21q24.3 (15.4 Mb). Proband in the second family was a 2-year-old female and had deletion of 5p15.33p14.3 (22.55 Mb) along with duplication of 12p13.33p13.31 (7.7 Mb). In both the families, father was balanced translocation carrier of the chromosomes involved. Patients in family 1 had overwhelming features of 5p deletion while patient in family 2, besides having features of 5p deletion, showed many features of 12p duplications. Prenatal diagnosis was possible in both the families. To the best of our knowledge, this is the first detailed molecular cytogenetic analysis and prenatal diagnosis report of 5p deletion syndrome from India. PMID:27625854

  1. Obesity, paternalism and fairness.

    PubMed

    Kniess, Johannes

    2015-11-01

    Many liberal theories are committed to the promotion of population health, and the principle of non-interference in individual life plans. Public health interventions often bring out a tension between these two values. In this paper, I examine this tension by assessing the justifiability of liberty-restricting policies in the field of obesity prevention. As I want to show, a 'soft' form of paternalism, which interferes with people's choices to safeguard their true interests, goes some way in justifying such policies, but it leaves unaddressed the problem of limiting the liberty of those whose true interest is in pursuing an unhealthy lifestyle. I argue that in this latter case, the key to reconcile the promotion of population health with the respect for individual liberty is distributive justice: when we cannot help those who care about their health without doing the same for those who do not, fairness will often require us to do so.

  2. 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.

  3. 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. PMID:27250821

  4. [POST MORTEM PATERNITY].

    PubMed

    Marguénaud, Jean-Pierre

    2015-07-01

    Post mortem paternity, namely the procreation after the death of the man whom is part of the couple, is one of the questions which raised the most hesitations since the first bioethics laws of 1994. The National Assembly, encouraged by several opinions of the CCNE (National advisory committee of ethics) had let itself convince that the transfer had, at least, to be authorized in utero embryos preserved at the regard of which no one could not claim to have rights equal or higher than those of the woman concerned. However, the Senate always ended up obtaining the maintenance of an absolute prohibition of posthumous procreation (starting) from the spermatozoids or frozen embryos. This indifference with the cruelty of the application of the law to the women plunged into mourning--based on a paradoxical appreciation of the interest of the child not to be born orphan, and on a not very glorious taking into account of the interest of the Body of notaries not to change its practices--is particularly debatable. One can, nevertheless, try to understand it according to the obsession of the legalization of surrogate motherhood by application of the principle of nondiscrimination which could justify the requests of the men who, thanks to a surrogate mother, would wish to become fathers starting from gametes or embryos taken or created before the death of their wife or partner. PMID:27356350

  5. CT and MRI of congenital nasal lesions in syndromic conditions.

    PubMed

    Ginat, Daniel T; Robson, Caroline D

    2015-07-01

    Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article. PMID:25573243

  6. 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

  7. Paternal contribution to birth weight

    PubMed Central

    Magnus, P; Gjessing, H; Skrondal, A; Skjarven, R

    2001-01-01

    STUDY OBJECTIVE—Understanding causes of variation in birth weight has been limited by lack of sufficient sets of data that include paternal birth weight. The objective was to estimate risks of low birth weight dependent on parental birth weights and to estimate father-mother-offspring correlations for birth weight to explain the variability in birth weight in terms of effects of genes and environmental factors.
DESIGN—A family design, using trios of father-mother-firstborn child.
SETTING—The complete birth population in Norway 1967-98.
PARTICIPANTS—67 795 families.
MAIN RESULTS—The birth weight correlations were 0.226 for mother-child and 0.126 for father-child. The spousal correlation was low, 0.020. The relative risk of low birth weight in the first born child was 8.2 if both parents were low birth weight themselves, with both parents being above 4 kg as the reference. The estimate of heritability is about 0.25 for birth weight, under the assumption that cultural transmission on the paternal side has no effect on offspring prenatal growth.
CONCLUSIONS—Paternal birth weight is a significant and independent predictor of low birth weight in offspring. The estimate of the heritability of birth weight in this study is lower than previously estimated from data within one generation in the Norwegian population.


Keywords: birth weight; genes; paternal effects PMID:11707480

  8. Genetic Syndromes Associated with Craniosynostosis.

    PubMed

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.

  9. Genetic Syndromes Associated with Craniosynostosis.

    PubMed

    Ko, Jung Min

    2016-05-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  10. Genetic Syndromes Associated with Craniosynostosis

    PubMed Central

    2016-01-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  11. 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.

  12. Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae).

    PubMed

    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.

  13. 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…

  14. Paternal age and mental health of offspring

    PubMed Central

    Malaspina, Dolores; Gilman, Caitlin; Kranz, Thorsten Manfred

    2015-01-01

    The influence of paternal age on the risk for sporadic forms of Mendelian disorders is well known, but a burgeoning recent literature also demonstrates a paternal age effect for complex neuropsychiatric conditions, including schizophrenia, autism, bipolar disorder and even for learning potential, expressed as intelligence. Mental illness is costly to the patients, the family and the public health system, accounting for the largest portion of disability costs in our economy. The delayed onset of neuropsychiatric conditions and lack of physical manifestations at birth are common frequencies in the population that have obscured the recognition that a portion of the risks for mental conditions is associated with paternal age. Identification of these risk pathways may be leveraged for knowledge about mental function and for future screening tests. However, only a small minority of at-risk offspring are likely to have such a psychiatric or learning disorder attributable to paternal age, including the children of older fathers. PMID:25956369

  15. Paternal factors in spontaneous first trimester miscarriage

    PubMed Central

    Jaleel, Riffat; Khan, Ayesha

    2013-01-01

    Objectives : To determine whether paternal factors i.e., age, tobacco use and genital tract infection increase the risk for spontaneous first trimester miscarriage. Methodology : This case control study was conducted in the Department of Obstetrics & Gynaecology, Unit V / IV, Dow Medical College & Lyari General Hospital, Dow University of Health Sciences, Karachi, Pakistan. Duration of study was two and half years, from Nov, 2007 to Apr, 2010. Inclusion criteria were pregnant women with age 20 – 35 years irrespective of parity. Exclusion criteria were known medical illness in either partner, induced abortion and recurrent miscarriages. Studied paternal factors were age, tobacco use and genital tract infection. Data was computed using SPSS version 16. Significance of paternal factors was determined by Logistic Regression Analysis. Results : Total cases studied were 200, while there were 400 controls. Mean maternal age was 27.6±4.9 years in cases and 26.5±4.5 years in controls. Mean paternal age was 35.5±6.2 years in cases and 32.3±5.4 years in controls. Paternal age was >35 years in 54.5% cases and 16.8% controls. Spearman Bivariate correlation revealed paternal age > 35 years (p=0.000) and genital tract infection (p=0.043) as significant factors. Only paternal age >35 years (p=0.000) remained significant in Final Model after entering into logistic regression. Conclusion: Paternal age beyond 35 years was found to be significantly related to first trimester spontaneous miscarriages. PMID:24353621

  16. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.

    PubMed

    Inbar-Feigenberg, Michal; Choufani, Sanaa; Cytrynbaum, Cheryl; Chen, Yi-An; Steele, Leslie; Shuman, Cheryl; Ray, Peter N; Weksberg, Rosanna

    2013-01-01

    Mosaicism for genome-wide paternal uniparental disomy (UPD) has been reported in only seven live born individuals to date. Clinical presentation includes manifestations of multiple paternal UPD syndromes with high variability, likely due to the variable levels of mosaicism in different somatic tissues. We report an eighth case in a female patient with mosaicism for genome-wide paternal UPD which highlights the complex clinical presentation. Our patient had features of Beckwith-Wiedemann syndrome (BWS), Angelman syndrome, and congenital hyperinsulinism. The clinical findings included prematurity, organomegaly, hemihyperplasia, developmental delay, benign tumors, and cystic lesions. The diagnosis in our patient was established utilizing microarray-based genome-wide DNA methylation analysis performed on leukocyte DNA. Targeted multiplex ligation-dependent probe amplification (MLPA) analysis of chromosome regions 11p15 and 15q13 confirmed mosaicism for paternal UPD at these genomic regions. This case represents the first report of microarray-based genome-wide DNA methylation analysis in the diagnosis of genome-wide paternal UPD. The application of microarray-based genome-wide DNA methylation analysis on selected individuals with complex clinical presentations could be a valuable diagnostic tool to improve the detection rate of mosaic genome-wide paternal UPD. This approach, which screens many loci simultaneously, is more cost-effective and less labor-intensive than performing multiple targeted DNA methylation-based assays. Identification of individuals with mosaicism for genome-wide paternal UPD is an important goal as it confers a low recurrence risk for the family and identifies individuals who require surveillance due to increased tumor risk.

  17. ISFG: Recommendations on biostatistics in paternity testing.

    PubMed

    Gjertson, David W; Brenner, Charles H; Baur, Max P; Carracedo, Angel; Guidet, Francois; Luque, Juan A; Lessig, Rüdiger; Mayr, Wolfgang R; Pascali, Vince L; Prinz, Mechthild; Schneider, Peter M; Morling, Niels

    2007-12-01

    The Paternity Testing Commission (PTC) of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO 17025 standards and a previous set of ISFG recommendations specific to the genetic investigations in paternity cases. In the initial set, the PTC recommended that biostatistical evaluations of paternity are based on a likelihood ratio principle - yielding the paternity index, PI. Here, we have made five supplementary biostatistical recommendations. The first recommendation clarifies and defines basic concepts of genetic hypotheses and calculation concerns needed to produce valid PIs. The second and third recommendations address issues associated with population genetics (allele probabilities, Y-chromosome markers, mtDNA, and population substructuring) and special circumstances (deficiency/reconstruction and immigration cases), respectively. The fourth recommendation considers strategies regarding genetic evidence against paternity. The fifth recommendation covers necessary documentation, reporting details and assumptions underlying calculations. The PTC strongly suggests that these recommendations should be adopted by all laboratories involved in paternity testing as the basis for their biostatistical analysis.

  18. Cenani-Lenz syndrome in father and daughter.

    PubMed

    De Smet, L; De Beer, P; Fryns, J P

    1996-01-01

    We present a father and daughter with typical clinical and radiological features of Cenani-Lenz syndrome. Cenani-Lenz syndrome has been delineated as a type of complete syndactyly resembling the spoon hand seen in Apert syndrome, with as important additional feature, the fusion of metacarpals and disorganization of the phalanges. Based on the observation of the syndrome in at least two affected siblings born to normal parents and the consanguinity in one family autosomal recessive inheritance was proposed. The findings in the present family could indicate that Cenani-Lenz syndrome may be genetically heterogeneous. Another possible explanation could be that the occurrence in affected siblings born to normal parents could be explained by gonadal mosaicism for an autosomal dominant gene.

  19. Paternity and inheritance of wealth

    NASA Astrophysics Data System (ADS)

    Hartung, John

    1981-06-01

    One of the oldest conjectures in anthropology is that men transfer wealth to their sister's son when the biological paternity of their `own' children is in doubt1-12. Because maternity is certain, a man is necessarily related to his sister's son and his brother (see Fig. 1). It is argued here that relatedness to male heirs can be assured by passing wealth to sister's sons or down a line of brothers, whether the prevailing kinship system reckons those brothers matrilineally or patrilineally. It is also argued that when several transfers of wealth are considered, a man's likelihood of being cuckolded need not be unrealistically high13 for his successive matrilineal heirs to be more related to him than his successive patrilineal heirs (see Fig. 2). Cross-cultural data on sister's son/brother inheritance14 and frequency of extramarital sex for females15 support the hypothesis that men tend to transmit wealth to their sister's son and/or brother when the probability that their putative children are their genetic children is relatively low.

  20. 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…

  1. The prevalence of obstructive sleep apnea in symptomatic patients with syndromic craniosynostosis.

    PubMed

    Inverso, G; Brustowicz, K A; Katz, E; Padwa, B L

    2016-02-01

    The reported prevalence of obstructive sleep apnea (OSA) in patients with syndromic craniosynostosis (SCS) varies due to inconsistent definitions of OSA, lack of uniform diagnostic testing, and different mixes of syndromic diagnoses. The purpose of this study was to determine the prevalence of OSA in symptomatic patients with SCS, and to determine whether this differs by phenotypic diagnosis. A retrospective cohort study of children with SCS was conducted. The primary outcome was presence of OSA diagnosed by polysomnography. The prevalence of OSA was calculated and stratified by diagnosis to compare differences in prevalence and severity (mild, moderate, or severe). The prevalence of OSA in symptomatic patients was 74.2%. Patients with Apert syndrome had the highest prevalence (80.6%), followed by Pfeiffer, Crouzon with acanthosis nigricans, and Crouzon syndromes (72.7%, 66.7%, and 64.7%, respectively). Severe OSA was most common in patients with Pfeiffer syndrome (45.5%), while patients with Apert and Crouzon syndromes were more likely to have moderate OSA (29.0% and 23.5%, respectively). Given that 56.4% of patients with SCS are symptomatic and that 74.2% of these symptomatic patients have OSA, it is recommended that a screening level I polysomnography be part of the clinical care for all patients with SCS. PMID:26602951

  2. Paternal Transmission and Anticipation in Schizophrenia

    PubMed Central

    Husted, Janice; Scutt, Laura E.; Bassett, Anne S.

    2011-01-01

    Recent studies have observed anticipation (earlier age at onset (AAO) or increased disease severity in successive generations) in familial schizophrenia. In other disorders, where the molecular mechanism (repeat expansion) is known, anticipation varies in degree depending on the sex of the transmitting parent. We investigated parental sex effects on anticipation in schizophrenia, using a familial sample of affected two-generation pairs in which anticipation had previously been demonstrated using the median intergenerational difference (MID) in AAO. A Wilcoxon rank sum test for independent samples was used to determine whether MID in AAO was significantly different for paternal and maternal transmission. Results suggested that in a sample of 127 parent-offspring pairs, anticipation was greater with paternal than with maternal transmission (MID = 18 and 14 years, respectively, P = 0.05). Paternal effects were strongest in 39 parent-offspring pairs with early-onset offspring (≤21 years) (MID = 22 and 17 years, respectively, for paternal and maternal transmission, P = 0.01). However, assessment of the effect of possible selection biases suggests that preferential ascertainment of late-onset fathers may have exerted important effects. While the results support possible paternal effects, further studies are needed to draw firm conclusions about true parent-of-origin effects on anticipation in familial schizophrenia. PMID:9613855

  3. Paternally Inherited IGF2 Mutation and Growth Restriction.

    PubMed

    Begemann, Matthias; Zirn, Birgit; Santen, Gijs; Wirthgen, Elisa; Soellner, Lukas; Büttel, Hans-Martin; Schweizer, Roland; van Workum, Wilbert; Binder, Gerhard; Eggermann, Thomas

    2015-07-23

    In humans, mutations in IGF1 or IGF1R cause intrauterine and postnatal growth restriction; however, data on mutations in IGF2, encoding insulin-like growth factor (IGF) II, are lacking. We report an IGF2 variant (c.191C→A, p.Ser64Ter) with evidence of pathogenicity in a multigenerational family with four members who have growth restriction. The phenotype affects only family members who have inherited the variant through paternal transmission, a finding that is consistent with the maternal imprinting status of IGF2. The severe growth restriction in affected family members suggests that IGF-II affects postnatal growth in addition to prenatal growth. Furthermore, the dysmorphic features of affected family members are consistent with a role of deficient IGF-II levels in the cause of the Silver-Russell syndrome. (Funded by Bundesministerium für Bildung und Forschung and the European Union.).

  4. [Psychoneuroses of paternity. Puerperal psychoneuroses in man].

    PubMed

    Millet, L; Karkous, E; Jorda, P; Cabal, P

    1978-03-01

    Psychotic, neurotic and psychosomatic disturbances, directly promoted by fatherhood condition, seem more frequent than the small number of publications about this subject allow to suppose. Twenty original observations are expounded and discussed; they allow the importance of basic psychological ground; it is necessary to differentiate distinctly between initial paternity disturbances, among immature patients, inducing total disorder, and multiple paternity perturbations where anxiety and culpability feeling prevail. Regarding these disturbances and the sociological phenomenon of the "couvade", the real puerperality in men is investigated in connection with the personal and relational structure of the individual.

  5. Justified hard paternalism: a response to Ten.

    PubMed

    Rainbolt, George W

    1989-04-01

    In a brief response to C.L. Ten's critique in the same issue of Bioethics of an earlier article by Rainbolt, Rainbolt defends his thesis that prescription drug laws are examples of permissible hard paternalism. They are not justifiable by soft paternalism, which permits interference with people's conduct only when their choices are insufficiently voluntary, because people who buy prescription drugs have good metaknowledge, i.e., they know that they do not know much about drugs and are making a decision based on this knowledge. PMID:11649244

  6. Detection of imprinting mutations in Angelman syndrome using a probe for exon {alpha} of SNRPN

    SciTech Connect

    Beuten, J.; Sutcliffe, J.S.; Casey, B.M.

    1996-05-17

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct clinical disorders resulting from deficiency of paternal (PWS) or maternal (AS) expression of imprinted genes within chromosome 15q11-q13. 15 refs., 1 fig.

  7. Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

    PubMed Central

    Gupta, Aayush; Sharma, Yugal; Deo, Kirti; Vellarikkal, Shamsudheen; Jayarajan, Rijith; Dixit, Vishal; Verma, Ankit; Scaria, Vinod; Sivasubbu, Sridhar

    2015-01-01

    Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping revealed duplication of the chromosome arm on 22q12+ in the father and two siblings. Whole exome sequencing revealed a homozygous p.Gly218Ser variation in TGM1; a variation reported earlier in an isolated Finnish population in association with autosomal recessive non-syndromic ichthyosis. This concurrence of a potentially benign 22q12+ duplication and LI, both rare individually, is reported here likely for the first time. PMID:26594337

  8. 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…

  9. 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…

  10. 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…

  11. Predictably Philandering Females Prompt Poor Paternal Provisioning.

    PubMed

    Schroeder, Julia; Hsu, Yu-Hsun; Winney, Isabel; Simons, Mirre; Nakagawa, Shinichi; Burke, Terry

    2016-08-01

    One predicted cost of female infidelity in socially monogamous species is that cuckolded males should provide less parental care. This relationship is robust across species, but evidence is ambiguous within species. We do not know whether individual males reduce their care when paired with cheating females compared with when paired with faithful females (within-male adjustment) or, alternatively, if the males that pair with cheating females are the same males that provide less parental care in general (between-male effect). Our exceptionally extensive long-term data set of repeated observations of a wild passerine allows us to disentangle paternal care adjustment within males-within pairs and between males-while accounting for environmental variables. We found a within-male adjustment of paternal provisioning, but not incubation effort, relative to the cuckoldry in their nest. This effect was mainly driven by females differing consistently in their fidelity. There was no evidence that this within-male adjustment also took place across broods with the same female, and we found no between-male effect. Interestingly, males that gained more extrapair paternity provided less care. Data from a cross-foster experiment suggested that males did not use kin recognition to assess paternity. Our results provide insight into the role of individual variation in parental care and mating systems. PMID:27420786

  12. Paternal inheritance of mitochondria in Chlamydomonas.

    PubMed

    Nakamura, Soichi

    2010-03-01

    To analyze mitochondrial DNA (mtDNA)inheritance, differences in mtDNA between Chlamydomonas reinhardtii and Chlamydomonas smithii, respiration deficiency and antibiotic resistance were used to distinguish mtDNA origins. The analyses indicated paternal inheritance. However, these experiments raised questions regarding whether paternal inheritance occurred normally.Mitochondrial nucleoids were observed in living zygotes from mating until 3 days after mating and then until progeny formation. However, selective disappearance of nucleoids was not observed. Subsequently, experimental serial backcrosses between the two strains demonstrated strict paternal inheritance. The fate of mt+ and mt- mtDNA was followed using the differences in mtDNA between the two strains. The slow elimination of mt+ mtDNA through zygote maturation in darkness was observed, and later the disappearance of mt+ mtDNA was observed at the beginning of meiosis. To explain the different fates of mtDNA, methylation status was investigated; however, no methylation was detected. Variously constructed diploid cells showed biparental inheritance. Thus, when the mating process occurs normally, paternal inheritance occurs. Mutations disrupting mtDNA inheritance have not yet been isolated. Mutations that disrupt maternal inheritance of chloroplast DNA (cpDNA) do not disrupt inheritance of mtDNA. The genes responsible for mtDNA inheritance are different from those of chloroplasts.

  13. 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.

  14. 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

  15. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)

    SciTech Connect

    James, R.S.; Crolla, J.A.; Sitch, F.L.

    1994-09-01

    Uniparental disomy may arise by a number of different mechanisms of aneuploidy correction. A population that has been identified as being at increased risk of aneuploidy are those individuals bearing supernumerary marker chromosomes (SMCs). There have been a number of cases reported of trisomy 21 in association with bi-satellited marker chromosomes have described two individuals with small inv dup (15) markers. One had paternal isodisomy of chromosome 15 and Angelman syndrome. The other had maternal heterodisomy (15) and Prader-Willi syndrome. At the Wessex Regional Genetics Laboratory we have conducted a search for uniparental disomy of the normal homologues of the chromosomes from which SMCs originated. Our study population consists of 39 probands with SMCs originating from a number of different autosomes, including 17 with SMCs of chromosome 15 origin. Using PCR amplification of microsatellite repeat sequences located distal to the regions included in the SMCs we have determined the parental origin of the two normal homologues in each case. We have identified paternal isodisomy of chromosome 6 in a female child with a supernumerary marker ring chromosome 6 in approximately 70% of peripheral blood lymphocytes. The marker was found to be of maternal origin. This is the second case of paternal isodisomy of chromosome 6 to be reported, and the first in association with a SMC resulting in a partial trisomy for a portion of the short arm of chromosome 6. In spite of this, the patient appears to be functioning appropriately for her age.

  16. 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. PMID:27338704

  17. 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.

  18. 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)

  19. Paternal age and diet: The contributions of a father's experience to susceptibility for post-concussion symptomology.

    PubMed

    Hehar, Harleen; Yu, Katrina; Ma, Irene; Mychasiuk, Richelle

    2016-09-22

    In an attempt to improve current understanding of risk factors that influence individual susceptibility to poor outcomes following mild traumatic brain injury (mTBI) or concussion, this project investigated whether modifications to paternal experiences (Advanced Age (AA) or High-Fat Diet (HFD)) affected offspring susceptibility to behavioral symptomology and changes in gene expression following pediatric concussion in a rodent model. The study demonstrated that paternal treatment prior to conception altered behavioral outcomes and molecular characterization of offspring. Offspring of AA fathers demonstrated abnormal behavioral performance when compared to offspring of control fathers. Similarly, paternal HFD altered pathophysiological outcomes for offspring, contributing to the heterogeneity in post-concussion syndrome. Additionally, this study provided insight into the mechanisms that mediate non-genetic paternal inheritance. Paternal treatment and the mTBI significantly influenced expression of a majority of the genes under examination in the prefrontal cortex, hippocampus, and nucleus accumbens, with changes being dependent upon sex and the brain region examined. These epigenetic changes may have contributed to the differences in offspring susceptibility to concussion. PMID:27365176

  20. Advances in understanding paternally transmitted Chromosomal Abnormalities

    SciTech Connect

    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 the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  1. Paternal contribution: new insights and future challenges.

    PubMed

    Krawetz, Stephen A

    2005-08-01

    It has been widely held that all that fathers essentially contribute to the next generation is half their genome. However, recent progress towards understanding biological processes such as sperm maturation and fertilization now indicates that the paternal contribution has been underestimated. To tackle some of the misconceptions surrounding the paternal contribution, the factors that are actually delivered by the sperm at fertilization and their potential developmental functions will be discussed using data from humans and animal models. Although still in their infancy, the practical applications of using sperm RNAs have already emerged in reproductive medicine as markers that are indicative of successful vasectomy. They are also beginning to appear in the forensic sciences and, within the next decade, might appear in the environmental sciences.

  2. Investigation of factors associated with paternal nondisjunction of chromosome 21.

    PubMed

    Oliver, Tiffany Renee; Bhise, Archit; Feingold, Eleanor; Tinker, Stuart; Masse, Nirupama; Sherman, Stephanie L

    2009-08-01

    Previous studies on relatively small samples of individuals with trisomy 21 caused by paternally derived errors have shown that: (1) advanced paternal age is not a risk factor for chromosome 21 nondisjunction (NDJ), (2) absence of recombination, but not the location of recombination is associated with paternal NDJ and (3) there is an excess of males among live-births with paternally derived trisomy 21. An excess of males is also observed among all individuals with trisomy 21. Using 128 families that had a child with trisomy 21 due to a paternally derived error, we examined: paternal age, recombination and the male/female sex ratio. We genotyped STRs along 21q to identify the origin of the error and the location of recombination on the paternal chromosome. Results showed that 32% of paternal meiotic errors occurred in meiosis I (MI) and 68% in meiosis II (MII). We confirmed the lack of a paternal age association with either type of error (mean paternal age for controls, MI, and MII errors: 31.3 +/- 6.6, 32.2 +/- 6.3, 30.6 +/- 6.5, respectively). However, contrary to previous findings, we did not find altered patterns of recombination among paternal MI or MII errors. We found an increased male/female sex ratio among paternal (1.28, 95% CI: 0.68-1.91) and maternal (1.16, 95% CI: 1.02-1.33) meiotic errors. While the sex ratio among individuals with paternal errors was not statistically significant, these findings suggest that selection against female fetuses with trisomy 21 may contribute to the excess of males observed among all individuals with trisomy 21. PMID:19606484

  3. Investigation of Factors Associated With Paternal Nondisjunction of Chromosome 21

    PubMed Central

    Oliver, Tiffany Renee; Bhise, Archit; Feingold, Eleanor; Tinker, Stuart; Masse, Nirupama; Sherman, Stephanie L.

    2014-01-01

    Previous studies on relatively small samples of individuals with trisomy 21 caused by paternally derived errors have shown that: (1) advanced paternal age is not a risk factor for chromosome 21 nondisjunction (NDJ), (2) absence of recombination, but not the location of recombination is associated with paternal NDJ and (3) there is an excess of males among live-births with paternally derived trisomy 21. An excess of males is also observed among all individuals with trisomy 21. Using 128 families that had a child with trisomy 21 due to a paternally derived error, we examined: paternal age, recombination and the male/female sex ratio. We genotyped STRs along 21q to identify the origin of the error and the location of recombination on the paternal chromosome. Results showed that 32% of paternal meiotic errors occurred in meiosis I (MI) and 68% in meiosis II (MII). We confirmed the lack of a paternal age association with either type of error (mean paternal age for controls, MI, and MII errors: 31.3 ± 6.6, 32.2 ± 6.3, 30.6 ± 6.5, respectively). However, contrary to previous findings, we did not find altered patterns of recombination among paternal MI or MII errors. We found an increased male/female sex ratio among paternal (1.28, 95% CI: 0.68–1.91) and maternal (1.16, 95% CI: 1.02–1.33) meiotic errors. While the sex ratio among individuals with paternal errors was not statistically significant, these findings suggest that selection against female fetuses with trisomy 21 may contribute to the excess of males observed among all individuals with trisomy 21. PMID:19606484

  4. 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.

  5. Deduction of paternity index from DNA mixture.

    PubMed

    Liao, Xiang Hai; Lau, Tai Shang; Ngan, Karenda Fai Ngor; Wang, Jun

    2002-08-28

    Determination of individual genotypes in DNA mixture remains a challenge in forensic science. Using an approach of mixture of distributions, this article provides formula for calculation of paternity index (PI) in cases where only tissue mixture of the mother and alleged father, the genotypes of the mother and child, but not that of the alleged father are available. The formula has been used to solve a real case using mother's vaginal tissue contaminated with semen from alleged father.

  6. 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. PMID:22665788

  7. 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.

  8. 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

  9. How Children’s Educational Outcomes and Criminality Vary by Duration and Frequency of Paternal Incarceration

    PubMed Central

    Andersen, Lars H.

    2016-01-01

    Existing studies of the consequences of paternal incarceration for children treat paternal incarceration as a dichotomous event (a child either experiences paternal incarceration or does not), although effects could accumulate with both the frequency and duration of paternal incarcerations. In this article I use register data on Danish children from birth cohort 1991, some of whom experienced paternal incarceration before age 15, to show how educational outcomes and criminality up to age 20 vary by frequency and total duration of paternal incarceration. The high quality of Danish register data also allows me to distinguish between paternal arrest and paternal incarceration and to show results for the total duration of paternal incarcerations conditioned on frequency of paternal incarceration. Results show that educational outcomes and criminality indeed correlate with duration and frequency of paternal incarceration, indicating that treating paternal incarceration as a dichotomous event blurs important heterogeneity in the consequences of paternal incarceration. PMID:27471324

  10. 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. PMID:21472512

  11. Families, murder, and insanity: a psychiatric review of paternal neonaticide.

    PubMed

    Kaye, N S; Borenstein, N M; Donnelly, S M

    1990-01-01

    Neonaticide is the killing of a newborn within the first 24 h of life. Although relatively uncommon, numerous cases of maternal neonaticide have been reported. To date, only two cases of paternal neonaticide have appeared in the literature. The authors review neonaticide and present two new case reports of paternal neonaticide. A psychodynamic explanation of paternal neonaticide is formulated. A new definition for neonaticide, more consistent with biological and psychological determinants, is suggested.

  12. Reporting for duty: the paternal function and clinical formulations.

    PubMed

    Davies, Nick

    2015-02-01

    The author highlights some developments in the theory of the preoedipal paternal function and paternal functionary and incorporates these ideas in developing clinical formulations for four clinical cases that privilege the preoedipal paternal function. In particular, four aspects of the preoedipal paternal function are identified, and for each a clinical case is discussed. Emphasis is placed on the necessity of widening clinical formulations to ensure clinicians have the widest possible set of clinical ideas and hence interventions and techniques at their fingertips. PMID:25688683

  13. Angelman syndrome and isovaleric acidemia: What is the link?

    PubMed Central

    Lambrecht, Alix; Pichard, Samia; Maurey, Hélène; Segarra, Nuria Garcia; Drunat, Séverine; Acquaviva-Bourdain, Cécile; Passemard, Sandrine; Benoist, Jean-François; Fauret-Amsellem, Anne-Laure; Schiff, Manuel

    2015-01-01

    We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism. PMID:26937393

  14. Angelman syndrome and isovaleric acidemia: What is the link?

    PubMed

    Lambrecht, Alix; Pichard, Samia; Maurey, Hélène; Segarra, Nuria Garcia; Drunat, Séverine; Acquaviva-Bourdain, Cécile; Passemard, Sandrine; Benoist, Jean-François; Fauret-Amsellem, Anne-Laure; Schiff, Manuel

    2015-06-01

    We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism. PMID:26937393

  15. Advanced paternal age and reproductive outcome

    PubMed Central

    Wiener-Megnazi, Zofnat; Auslender, Ron; Dirnfeld, Martha

    2012-01-01

    Women have been increasingly delaying the start of motherhood in recent decades. The same trend is seen also for men. The influence of maternal age on fertility, chromosomal anomalies, pregnancy complications, and impaired perinatal and post-natal outcome of offspring, has been thoroughly investigated, and these aspects are clinically applied during fertility and pregestational counseling. Male aging and reproductive outcome has gained relatively less attention. The purpose of this review is to evaluate updated and relevant literature on the effect of paternal age on reproductive outcome. PMID:22157982

  16. Moral Status and the Wrongness of Paternalism

    PubMed Central

    Birks, David

    2014-01-01

    In this paper, I consider the view that paternalism is wrong when it demeans or diminishes the paternalizee’s moral status (the Moral Status Argument). I argue that we should reject the Moral Status Argument because it is both too narrow and too broad. It is too narrow because it cannot account for the wrongness of some of the most objectionable paternalistic interventions, namely strong paternalistic interventions. It is too broad because it is unable to distinguish between wrongful paternalistic acts that are plausibly considered more wrong than other wrongful paternalistic acts. PMID:25075133

  17. 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…

  18. Female reproductive synchrony predicts skewed paternity across primates

    PubMed Central

    Nunn, Charles L.; Schülke, Oliver

    2008-01-01

    Recent studies have uncovered remarkable variation in paternity within primate groups. To date, however, we lack a general understanding of the factors that drive variation in paternity skew among primate groups and across species. Our study focused on hypotheses from reproductive skew theory involving limited control and the use of paternity “concessions” by investigating how paternity covaries with the number of males, female estrous synchrony, and rates of extragroup paternity. In multivariate and phylogenetically controlled analyses of data from 27 studies on 19 species, we found strong support for a limited control skew model, with reproductive skew within groups declining as female reproductive synchrony and the number of males per group increase. Of these 2 variables, female reproductive synchrony explained more of the variation in paternity distributions. To test whether dominant males provide incentives to subordinates to resist matings by extragroup males, that is, whether dominants make concessions of paternity, we derived a novel prediction that skew is lower within groups when threat from outside the group exists. This prediction was not supported as a primary factor underlying patterns of reproductive skew among primate species. However, our approach revealed that if concessions occur in primates, they are most likely when female synchrony is low, as these conditions provide alpha male control of paternity that is assumed by concessions models. Collectively, our analyses demonstrate that aspects of male reproductive competition are the primary drivers of reproductive skew in primates. PMID:19018288

  19. Male biological clock: a critical analysis of advanced paternal age

    PubMed Central

    Ramasamy, Ranjith; Chiba, Koji; Butler, Peter; Lamb, Dolores J.

    2016-01-01

    Extensive research defines the impact of advanced maternal age on couples’ fecundity and reproductive outcomes, but significantly less research has been focused on understanding the impact of advanced paternal age. Yet it is increasingly common for couples at advanced ages to conceive children. Limited research suggests that the importance of paternal age is significantly less than that of maternal age, but advanced age of the father is implicated in a variety of conditions affecting the offspring. This review examines three aspects of advanced paternal age: the potential problems with conception and pregnancy that couples with advanced paternal age may encounter, the concept of discussing a limit to paternal age in a clinical setting, and the risks of diseases associated with advanced paternal age. As paternal age increases, it presents no absolute barrier to conception, but it does present greater risks and complications. The current body of knowledge does not justify dissuading older men from trying to initiate a pregnancy, but the medical community must do a better job of communicating to couples the current understanding of the risks of conception with advanced paternal age. PMID:25881878

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

    PubMed Central

    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. PMID:26566271

  1. 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.

  2. 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. PMID:26566271

  3. Inherited alleles revealing an incestuous paternity.

    PubMed

    Jankova-Ajanovska, R; Jakovski, Z; Janeska, B; Simjanovska, L; Duma, A

    2010-01-01

    Some rape cases result in the pregnancy of the victim and if the case is not reported to the police after the act with a subsequent gynaecological examination of the girl and the taking of a vaginal swab, there is no way of connecting the rape case with the perpetrator, except by parentage determination using DNA (deoxyribonucleic acid) analysis after abortion or induced delivery. In order to solve the rape case of a minor girl of 14 years which resulted with pregnancy, where a 60-year-old man was accused of the rape, DNA was extracted from blood samples from the girl and the putative assailant and from the foetus after its induced delivery. The autosomal short tandem repeats (STR) typing for 15 different loci showed differences in 6 STR loci between the putative assailant as a father and the foetus, thus excluding the tested paternity. A large number of identical loci between the mother's and the child's genotype led us to consider the possibility of incestuous paternity. Analysis of DNA samples from the girl's father and brother clarified the case as brother-sister incest.

  4. Inherited alleles revealing an incestuous paternity.

    PubMed

    Jankova-Ajanovska, R; Jakovski, Z; Janeska, B; Simjanovska, L; Duma, A

    2010-01-01

    Some rape cases result in the pregnancy of the victim and if the case is not reported to the police after the act with a subsequent gynaecological examination of the girl and the taking of a vaginal swab, there is no way of connecting the rape case with the perpetrator, except by parentage determination using DNA (deoxyribonucleic acid) analysis after abortion or induced delivery. In order to solve the rape case of a minor girl of 14 years which resulted with pregnancy, where a 60-year-old man was accused of the rape, DNA was extracted from blood samples from the girl and the putative assailant and from the foetus after its induced delivery. The autosomal short tandem repeats (STR) typing for 15 different loci showed differences in 6 STR loci between the putative assailant as a father and the foetus, thus excluding the tested paternity. A large number of identical loci between the mother's and the child's genotype led us to consider the possibility of incestuous paternity. Analysis of DNA samples from the girl's father and brother clarified the case as brother-sister incest. PMID:21258293

  5. Kinetics and specificity of paternal mitochondrial elimination in Caenorhabditis elegans.

    PubMed

    Wang, Yang; Zhang, Yi; Chen, Lianwan; Liang, Qian; Yin, Xiao-Ming; Miao, Long; Kang, Byung-Ho; Xue, Ding

    2016-09-01

    In most eukaryotes, mitochondria are inherited maternally. The autophagy process is critical for paternal mitochondrial elimination (PME) in Caenorhabditis elegans, but how paternal mitochondria, but not maternal mitochondria, are selectively targeted for degradation is poorly understood. Here we report that mitochondrial dynamics have a profound effect on PME. A defect in fission of paternal mitochondria delays PME, whereas a defect in fusion of paternal mitochondria accelerates PME. Surprisingly, a defect in maternal mitochondrial fusion delays PME, which is reversed by a fission defect in maternal mitochondria or by increasing maternal mitochondrial membrane potential using oligomycin. Electron microscopy and tomography analyses reveal that a proportion of maternal mitochondria are compromised when they fail to fuse normally, leading to their competition for the autophagy machinery with damaged paternal mitochondria and delayed PME. Our study indicates that mitochondrial dynamics play a critical role in regulating both the kinetics and the specificity of PME.

  6. Kinetics and specificity of paternal mitochondrial elimination in Caenorhabditis elegans

    PubMed Central

    Wang, Yang; Zhang, Yi; Chen, Lianwan; Liang, Qian; Yin, Xiao-Ming; Miao, Long; Kang, Byung-Ho; Xue, Ding

    2016-01-01

    In most eukaryotes, mitochondria are inherited maternally. The autophagy process is critical for paternal mitochondrial elimination (PME) in Caenorhabditis elegans, but how paternal mitochondria, but not maternal mitochondria, are selectively targeted for degradation is poorly understood. Here we report that mitochondrial dynamics have a profound effect on PME. A defect in fission of paternal mitochondria delays PME, whereas a defect in fusion of paternal mitochondria accelerates PME. Surprisingly, a defect in maternal mitochondrial fusion delays PME, which is reversed by a fission defect in maternal mitochondria or by increasing maternal mitochondrial membrane potential using oligomycin. Electron microscopy and tomography analyses reveal that a proportion of maternal mitochondria are compromised when they fail to fuse normally, leading to their competition for the autophagy machinery with damaged paternal mitochondria and delayed PME. Our study indicates that mitochondrial dynamics play a critical role in regulating both the kinetics and the specificity of PME. PMID:27581092

  7. Kinetics and specificity of paternal mitochondrial elimination in Caenorhabditis elegans.

    PubMed

    Wang, Yang; Zhang, Yi; Chen, Lianwan; Liang, Qian; Yin, Xiao-Ming; Miao, Long; Kang, Byung-Ho; Xue, Ding

    2016-01-01

    In most eukaryotes, mitochondria are inherited maternally. The autophagy process is critical for paternal mitochondrial elimination (PME) in Caenorhabditis elegans, but how paternal mitochondria, but not maternal mitochondria, are selectively targeted for degradation is poorly understood. Here we report that mitochondrial dynamics have a profound effect on PME. A defect in fission of paternal mitochondria delays PME, whereas a defect in fusion of paternal mitochondria accelerates PME. Surprisingly, a defect in maternal mitochondrial fusion delays PME, which is reversed by a fission defect in maternal mitochondria or by increasing maternal mitochondrial membrane potential using oligomycin. Electron microscopy and tomography analyses reveal that a proportion of maternal mitochondria are compromised when they fail to fuse normally, leading to their competition for the autophagy machinery with damaged paternal mitochondria and delayed PME. Our study indicates that mitochondrial dynamics play a critical role in regulating both the kinetics and the specificity of PME. PMID:27581092

  8. 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…

  9. Medical paternalism serves the patient best.

    PubMed

    Lim, L S

    2002-03-01

    It seems obvious that in a post-modern, constructivist world where meaning and value systems are often subjective and relative, any absolutist view is likely to be questionable. This is more so if it relates to ethics, the foundations, interpretation and application of which have been and continue to be much debated. So, in addressing the proposition, my efforts were directed at identifying a position that would mediate polarity. I examined the contention that the doctor, because he is better informed, may claim greater acuity and powers of judgment, and its defences against the charge of interfering with individual liberty and autonomy through various arguments such as the harm principle, the welfare, the principle of legal moralism and the appeal to uncertainty. While there is some validity to the arguments proposed, absolute paternalism would seem incompatible with respect for individual rights. How satisfactory, then, is the paradigm shift from paternalism to the independent choice model where the doctor presents neutral statistics as little biased as possible by his own views and judgments and leaves the decision making entirely to the patient or his/her relatives. This clearly had its limitations too. As with much of human experience, the answer would seem to rest in mediating the happy mean. Recognising a distinction between autonomy (self-determination) and independence (total freedom of choice without any interference) allows for a model of qualified independence or "enhanced autonomy" (Quill & Brody, 1996). This is predicated on doctor-patient dialogue, exchange of ideas/views, negotiation of differences, and sharing power and influence for the common purpose of serving the patient's best interest. This model would seem to be a responsible and effective approach to management of clinical dilemmas, as well as one that in its pluralistic approach is consistent with fundamental moral and philosophic propositions. It is by no means flawless, but in an

  10. Medical paternalism serves the patient best.

    PubMed

    Lim, L S

    2002-03-01

    It seems obvious that in a post-modern, constructivist world where meaning and value systems are often subjective and relative, any absolutist view is likely to be questionable. This is more so if it relates to ethics, the foundations, interpretation and application of which have been and continue to be much debated. So, in addressing the proposition, my efforts were directed at identifying a position that would mediate polarity. I examined the contention that the doctor, because he is better informed, may claim greater acuity and powers of judgment, and its defences against the charge of interfering with individual liberty and autonomy through various arguments such as the harm principle, the welfare, the principle of legal moralism and the appeal to uncertainty. While there is some validity to the arguments proposed, absolute paternalism would seem incompatible with respect for individual rights. How satisfactory, then, is the paradigm shift from paternalism to the independent choice model where the doctor presents neutral statistics as little biased as possible by his own views and judgments and leaves the decision making entirely to the patient or his/her relatives. This clearly had its limitations too. As with much of human experience, the answer would seem to rest in mediating the happy mean. Recognising a distinction between autonomy (self-determination) and independence (total freedom of choice without any interference) allows for a model of qualified independence or "enhanced autonomy" (Quill & Brody, 1996). This is predicated on doctor-patient dialogue, exchange of ideas/views, negotiation of differences, and sharing power and influence for the common purpose of serving the patient's best interest. This model would seem to be a responsible and effective approach to management of clinical dilemmas, as well as one that in its pluralistic approach is consistent with fundamental moral and philosophic propositions. It is by no means flawless, but in an

  11. Consequences of paternal cocaine exposure in mice.

    PubMed

    He, Fang; Lidow, Irina A; Lidow, Michael S

    2006-01-01

    The present study examined the potential neuroteratological effects of paternal cocaine (COC) exposure using the novel mouse model of inhalational drug administration. In this model, mice were trained to self-administer COC in multi-hour daily inhalation sessions reminiscent of crack binges. The controls included males pair-fed with COC-inhaling animals as well as ad-lib-fed males. All males were bred with drug-naive females. The newborn pups sired by COC-inhaling males had a reduced biparietal head diameter, suggesting a decreased cerebral volume. When the pups reached adulthood, their sustained visuo-spatial attention and spatial working memory were tested using a 5-arm maze paradigm. During the attention tests, the percentage of correct trials at the shortest stimulus duration employed in the study (0.5 s) was significantly lower for the male offspring of COC-inhaling fathers as compared to the offspring of both pair-fed and ad-lib-fed controls. For the females sired by COC-inhaling fathers, the deficit was observed at light stimulus durations of 0.5 and 0.75 s. Also, during the working memory tests, the male offspring of COC-inhaling fathers required more sessions than the offspring of either pair-fed or ad-lib-fed fathers to reach the selected criterion at retention intervals of 16 min and longer. The impairment of working memory in female offspring of COC-inhaling fathers was even stronger, as the offspring needed more sessions to reach the criterion as compared to their control counterparts, even at retention intervals as short as 4 min. These findings suggest that paternal COC abuse prior to coitus may impact the development of the offspring, particularly if they are females. We further showed that chronic COC exposure in male mice does not result in substantial breakage of spermatozoal DNA, but significantly alters expression of DNA methyltransferases 1 and 3a in the germ cell-rich seminiferous tubules of the testis. Since these enzymes are essential for

  12. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886

  13. The inherent paternalism in clinical practice.

    PubMed

    Wulff, H R

    1995-06-01

    It is sometimes suggested that the physician should offer the patient "just the facts," preferably in a "value-free manner," explain the different options, and then leave it to the patient to make the choice. This paper explores the extent to which this adviser model is realistic. The clinical decision process and the various components of clinical reasoning are discussed, and a distinction is made between the biological, empirical, empathic/hermeneutic and ethical components. The discussion is based on the ethical norms of the public health services in the Nordic countries, and the problems are illustrated by a clinical example. It is concluded that the adviser model is unrealistic. Patient information is important, but the complexity of clinical reasoning makes it impossible to separate facts and value judgments. It is claimed that there is an inherent element of paternalism in clinical decision-making and that clinical practice presupposes a mutual trust between physician and patient. PMID:7658175

  14. Medical maternalism: beyond paternalism and antipaternalism.

    PubMed

    Specker Sullivan, Laura

    2016-07-01

    This paper argues that the concept of paternalism is currently overextended to include a variety of actions that, while resembling paternalistic actions, are importantly different. I use the example of Japanese physicians' non-disclosures of cancer diagnoses directly to patients, arguing that the concept of maternalism better captures these actions. To act paternalistically is to substitute one's own judgement for that of another person and decide in place of that person for his/her best interest. By contrast, to act maternalistically is to decide for another person based on a reasonable understanding of that person's own preferences. The concept of maternalism allows for a more thorough assessment of the moral justification of these types of actions. I conclude that it is possible, at least in principle, to justify Japanese physicians' non-disclosures, and that this justification must be based on an understanding of these actions as maternalistic.

  15. Paternalism and levels of knowledge: a comment on Rainbolt.

    PubMed

    Ten, C L

    1989-04-01

    In an article in the January 1989 issue of Bioethics, George W. Rainbolt argued that prescription drug laws are justified as examples of permissible hard paternalism, which allows interference with people's voluntary choices, but that they cannot be justified as soft paternalism, which permits interference with people's conduct only when their choices are insufficiently voluntary. In this comment, Ten contends that Rainbolt's case against soft paternalism fails because Rainbolt does not pay sufficient attention to the relationship between first-level knowledge and metaknowledge and to the different requirements of voluntary risk-taking. PMID:11649243

  16. 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)

  17. Paternal postpartum depression: what health care providers should know.

    PubMed

    Musser, Anna K; Ahmed, Azza H; Foli, Karen J; Coddington, Jennifer A

    2013-01-01

    Paternal postpartum depression (PPD) is a clinically significant problem for families that is currently underscreened, underdiagnosed, and undertreated. Maternal PPD is a well-known condition and has been extensively researched. In comparison, PPD in fathers and its potential effects on the family are not widely recognized. Studies have shown the importance of optimal mental health in fathers during the postpartum period. Negative effects of paternal PPD affect marital/partner relationships, infant bonding, and child development. To promote optimal health for parents and children, pediatric nurse practitioners must stay up to date on this topic. This article discusses the relationship of paternal PPD to maternal PPD; the consequences, signs, and symptoms; and the pediatric nurse practitioner's role in assessing and managing paternal PPD.

  18. 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

  19. Paternal RNA contributions in the Caenorhabditis elegans zygote

    PubMed Central

    Stoeckius, Marlon; Grün, Dominic; Rajewsky, Nikolaus

    2014-01-01

    Development of the early embryo is thought to be mainly driven by maternal gene products and post-transcriptional gene regulation. Here, we used metabolic labeling to show that RNA can be transferred by sperm into the oocyte upon fertilization. To identify genes with paternal expression in the embryo, we performed crosses of males and females from divergent Caenorhabditis elegans strains. RNA sequencing of mRNAs and small RNAs in the 1-cell hybrid embryo revealed that about one hundred sixty paternal mRNAs are reproducibly expressed in the embryo and that about half of all assayed endogenous siRNAs and piRNAs are also of paternal origin. Together, our results suggest an unexplored paternal contribution to early development. PMID:24894551

  20. 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

  1. Paternal programming of offspring cardiometabolic diseases in later life.

    PubMed

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

    2016-11-01

    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.

  2. 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.

  3. Major paternal depression and child consultation for developmental and behavioural problems

    PubMed Central

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

    2009-01-01

    Background It is well established that maternal depression is associated with enhanced child consultation for developmental and behaviour problems, but there is a dearth of research on paternal depression and child outcome. Aim To assess the association of major paternal depressed mood and child consultation for developmental and behaviour problems. Design of study Cross-sectional study. Setting General practices in London and Hertfordshire, UK. Method Fathers of children aged 4–6 years were recruited via 13 general practices. A sample of 248 biological father and mother dyads completed measures on depressive syndrome (Patient Health Questionnaire), child consultations with health professionals for developmental and behaviour problems, fathering, couple relationship quality, alcohol misuse, other psychiatric impairment, and sociodemographic factors. Results Eight out of 248 fathers (3%) had a major depressive syndrome. Sixty-five out of 247 (26%) fathers reported they were responsible for taking their child to see the doctor at least half the time compared with mothers. Children of fathers with a major depressive syndrome were almost nine times more likely to have consulted a health professional for speech and language problems (adjusted odds ratio [OR] = 8.67, 95% confidence interval [CI] = 1.99 to 37.67, P = 0.004) and seven times more likely to have consulted for externalising behaviour problems (adjusted OR = 6.98, 95% CI = 1.00 to 48.76, P = 0.05). Conclusion Children of fathers with major depression were more likely to consult for speech and language problems and externalising behaviour problems. A longitudinal study is recommended to identify causal mechanisms. PMID:19275834

  4. Multicolor FISH studies of male non-disjunction: Evidence for a paternal age effect

    SciTech Connect

    Griffin, D.K.; Millie, E.A.; Sheean, L.A.

    1994-09-01

    Approximately 5-10% of autosomal trisomies and the majority of sex chromosome aneuploidies are paternally derived, thus paternal non-disjunction is an important contributor to human chromosomal syndromes. We have been using multicolor FISH to screen for aneuploidy in sperm of normal males and to determine whether there is, among individuals or among chromosomes, variation in the likelihood of non-disjunction. Our initial studies based on analysis of 5000 sperm scored per chromosome in nine males identified significant differences in disomy rates for chromosomes 16, 18 and the sex chromosomes. We have now extended those analyses to a new series of 10 donors aged 22 to 45 to confirm or refute our observations of chromosome-specific differences in rates of disomy; to determine if the size of the centromeric (alpha satellite) sequences is related to non-disjunction frequency; and to determine if there is a paternal as well as a maternal age effect on non-disjunction. For these studies, we have used 3 color FISH for chromosomes 18 and the X and Y chromosomes to now score {approximately}20,000 sperm for each of 10 new donors. Our results provide little evidence for an effect of the size of the Y chromosome centromere on the frequency of sex chromosome disomy. However, we have found considerable variation in rates of disomy among individuals and have confirmed significant differences among chromosomes in the likelihood of non-disjunction; i.e., the rate of non-disjunction of the sex chromosomes is 3.5 -4 times greater than that of chromosome 18 and meiosis II errors are significantly more likely for the Y chromosome than for the X chromosome. Specifically, we have identified increases in the frequency of disomy 18 and both meiosis I (XY) and meiosis II (XX and YY) sex chromosome disomy although the effect is only significant for total sex chromosome disomy.

  5. Paternal filicide in Québec.

    PubMed

    Bourget, Dominique; Gagné, Pierre

    2005-01-01

    In this retrospective study, relevant demographic, social, and clinical variables were examined in 77 cases of paternal filicide. Between 1991 and 2001, all consecutive coroners' files on domestic homicide in Québec, Canada, were reviewed, and 77 child victims of 60 male parent perpetrators were identified. The results support data indicating that more fathers commit filicide than do mothers. A history of family abuse was characteristic of a substantial number of cases, and most of the cases involved violent means of homicide. Filicide was frequently (60%) followed by the suicide of the perpetrator and more so (86%) in cases involving multiple sibling victims. The abuse of drugs and alcohol was rare. At the time of the offense, most of the perpetrators were suffering from a psychiatric illness, usually depressive disorder. Nearly one-third were in a psychotic state. The proportion of fatal abuse cases was comparatively low. Many of the perpetrators had had contact with health professionals prior to the offense, although none had received treatment for a psychiatric illness. PMID:16186200

  6. The absence of the paternal penis.

    PubMed

    Elise, D

    1998-01-01

    Girls' experiences of object loss, in conjunction with female anatomical structure, may lend themselves to a particular genital anxiety regarding openness and emptiness. The relational void in giving up the mother as love object may lead to an internal self-representation of a "hole" to be filled, much as the mouth sucks the pacifier in the absence of the nipple. This image may then be extended to the genital representation. In turning to the father, a girl may find that she lacks a relationship with him in the relational space opened up by the loss of the mother; the penis is symbolically withheld from her in the father's relational distance. This lack of sexual and relational gratification, it is proposed, may be schematized by a female as her body being empty of something. The father's absence--the absence of the paternal penis--may lead to an absence of the mental representation of the vagina and to an inhibition of the role the vagina then plays for a woman in sexual desire. Vaginal repression may serve to disguise object hunger that might otherwise be experienced as vaginal longing. An abbreviated clinical vignette, revolving around a masturbatory fantasy, is offered in partial illustration of the thesis.

  7. Effective Population Sizes with Multiple Paternity

    PubMed Central

    Sugg, D. W.; Chesser, R. K.

    1994-01-01

    While the concept of effective population size is of obvious applicability to many questions in population genetics and conservation biology, its utility has suffered due to a lack of agreement among its various formulations. Often, mathematical formulations for effective sizes apply restrictive assumptions that limit their applicability. Herein, expressions for effective sizes of populations that account for mating tactics, biases in sex ratios, and differential dispersal rates (among other parameters) are developed. Of primary interest is the influence of multiple paternity on the maintenance of genetic variation in a population. In addition to the standard inbreeding and variance effective sizes, intragroup (coancestral) and intergroup effective sizes also are developed. Expressions for effective sizes are developed for the beginning of nonrandom gene exchanges (initial effective sizes), the transition of gene correlations (instantaneous effective sizes), and the steady-state (asymptotic effective size). Results indicate that systems of mating that incorporate more than one male mate per female increase all effective sizes above those expected from polygyny and monogamy. Instantaneous and asymptotic sizes can be expressed relative to the fixation indices. The parameters presented herein can be utilized in models of effective sizes for the study of evolutionary biology and conservation genetics. PMID:7982568

  8. Paternal Transmission of Stressed-Induced Pathologies

    PubMed Central

    Dietz, David M.; LaPlant, Quincey; Watts, Emily L.; Hodes, Georgia E.; Russo, Scott J.; Feng, Jian; Oosting, Ronald S.; Vialou, Vincent; Nestler, Eric J.

    2011-01-01

    Background There has been recent interest in the possibility that epigenetic mechanisms might contribute to the trans-generational transmission of stress-induced vulnerability. Here, we focused on possible paternal transmission using the social defeat stress paradigm. Methods Adult male mice exposed to chronic social defeat stress, or control non-defeated mice, were bred with normal female mice and their offspring were assessed behaviorally for depressive- and anxiety-like measures. Plasma levels of corticosterone and vascular endothelial growth factor (VEGF) were also assayed. To directly assess the role of epigenetic mechanisms, we used in vitro fertilization (IVF); behavioral assessments were conducted on offspring of mice from IVF-control and IVF-defeated fathers. Results We show that both male and female offspring from defeated fathers exhibit increased measures of several depression- and anxiety-like behaviors. The male offspring of defeated fathers also display increased baseline plasma levels of corticosterone and decreased levels of VEGF. However, most of these behavioral changes were not observed when offspring were generated through IVF. Conclusion These results suggest that, while behavioral adaptations that occur after chronic social defeat stress can be transmitted from the father to his male and female F1 progeny, only very subtle changes might be transmitted epigenetically under the conditions tested. PMID:21679926

  9. 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:…

  10. Neither testosterone levels nor aggression decrease when the male Mongolian gerbil (Meriones unguiculatus) displays paternal behavior.

    PubMed

    Juana, Luis; Bárbara, Vázquez-Gaytán; Martín, Martínez-Torres; Agustín, Carmona; Guillermo, Ramos-Blancas; Guadalupe, Ortíz

    2010-03-01

    The first studies that correlated mammalian paternal behavior and testosterone levels indicated that the concentration of this steroid hormone decreases when males exhibit paternal care. However, recent studies have also shown that testosterone levels do not decrease when males display paternal behavior. In this study, we measured testosterone levels in plasma throughout the reproductive cycle of the Mongolian gerbil. Testosterone concentrations were correlated with paternal care as well as aggression. We also examined whether there is a trade-off between paternal behavior and aggression in this mammal. Our results show that Mongolian gerbil testosterone levels do not decrease when the males give paternal care. Likewise, male Mongolian gerbils exhibit high levels of aggression while displaying paternal behavior, indicating that there is no trade-off between aggression and paternal behavior. More studies are needed to determine whether testosterone is involved in the regulation of paternal behavior in this rodent.

  11. Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.

    PubMed

    Melo, Bruna C S; Portocarrero, Ana; Alves, Cláudia; Sampaio, André; Mota-Vieira, Luisa

    2015-01-01

    The detection of supernumerary marker chromosomes (SMCs) in prenatal diagnosis is always a challenge. In this study, we report a paternally inherited case of a small SMC(15) that was identified in prenatal diagnosis due to advanced maternal age. A 39-year-old woman underwent amniocentesis at 16 weeks of gestation. A fetal abnormal karyotype - 47,XX,+mar - with one sSMC was detected in all metaphases. Since this sSMC was critical in the parental decision to continue or interrupt this pregnancy, we proceeded to study the fetus and their parents. Cytogenetic and molecular analyses revealed a fetal karyotype 47,XX,+mar pat.ish idic(15)(ql2)(D15Zl++,SNRPN-), in which the sSMC(15) was a paternally inherited inverted duplicated chromosome and did not contain the critical region of Prader-Willi/Angelman syndromes. Moreover, fetal uniparental disomy was excluded. Based on this information and normal obstetric ultrasounds, the parents decided to proceed with the pregnancy and a phenotypically normal girl was born at 39 weeks of gestation. In conclusion, the clinical effects of sSMCs need to be investigated, especially when sSMCs are encountered at prenatal diagnosis. Here, although the paternal sSMC(15) was not associated with an abnormal phenotype, its characterization allows more accurate genetic counseling for the family progeny. PMID:26523119

  12. Paternally induced transgenerational inheritance of susceptibility to diabetes in mammals.

    PubMed

    Wei, Yanchang; Yang, Cai-Rong; Wei, Yan-Ping; Zhao, Zhen-Ao; Hou, Yi; Schatten, Heide; Sun, Qing-Yuan

    2014-02-01

    The global prevalence of prediabetes and type 2 diabetes (T2D) is increasing, and it is contributing to the susceptibility to diabetes and its related epidemic in offspring. Although the impacts of paternal impaired fasting blood glucose and glucose intolerance on the metabolism of offspring have been well established, the exact molecular and mechanistic basis that mediates these impacts remains largely unclear. Here we show that paternal prediabetes increases the susceptibility to diabetes in offspring through gametic epigenetic alterations. In our findings, paternal prediabetes led to glucose intolerance and insulin resistance in offspring. Relative to controls, offspring of prediabetic fathers exhibited altered gene expression patterns in the pancreatic islets, with down-regulation of several genes involved in glucose metabolism and insulin signaling pathways. Epigenomic profiling of offspring pancreatic islets revealed numerous changes in cytosine methylation depending on paternal prediabetes, including reproducible changes in methylation over several insulin signaling genes. Paternal prediabetes altered overall methylome patterns in sperm, with a large portion of differentially methylated genes overlapping with that of pancreatic islets in offspring. Our study uniquely revealed that prediabetes can be inherited transgenerationally through the mammalian germ line by an epigenetic mechanism.

  13. Promiscuity, paternity and personality in the great tit

    PubMed Central

    Patrick, Samantha C.; Chapman, Joanne R.; Dugdale, Hannah L.; Quinn, John L.; Sheldon, Ben C.

    2012-01-01

    Understanding causes of variation in promiscuity within populations remain a major challenge. While most studies have focused on quantifying fitness costs and benefits of promiscuous behaviour, an alternative possibility—that variation in promiscuity within populations is maintained because of linkage with other traits—has received little attention. Here, we examine whether promiscuity in male and female great tits (Parus major)—quantified as extra-pair paternity (EPP) within and between nests—is associated with variation in a well-documented personality trait: exploration behaviour in a novel environment. Exploration behaviour has been shown to correlate with activity levels, risk-taking and boldness, and these are behaviours that may plausibly influence EPP. Exploration behaviour correlated positively with paternity gained outside the social pair among males in our population, but there was also a negative correlation with paternity in the social nest. Hence, while variation in male personality predicted the relative importance of paternity gain within and outside the pair bond, total paternity gained was unrelated to exploration behaviour. We found evidence that males paired with bold females were more likely to sire extra-pair young. Our data thus demonstrate a link between personality and promiscuity, with no net effects on reproductive success, suggesting personality-dependent mating tactics, in contrast with traditional adaptive explanations for promiscuity. PMID:22130602

  14. 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

  15. Multiple paternity and hybridization in two smooth-hound sharks

    PubMed Central

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

    2015-01-01

    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. PMID:26257113

  16. 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. PMID:27097924

  17. Can paternal leakage maintain sexually antagonistic polymorphism in the cytoplasm?

    PubMed Central

    Kuijper, B; Lane, N; Pomiankowski, A

    2015-01-01

    A growing number of studies in multicellular organisms highlight low or moderate frequencies of paternal transmission of cytoplasmic organelles, including both mitochondria and chloroplasts. It is well established that strict maternal inheritance is selectively blind to cytoplasmic elements that are deleterious to males – ’mother's curse’. But it is not known how sensitive this conclusion is to slight levels of paternal cytoplasmic leakage. We assess the scope for polymorphism when individuals bear multiple cytoplasmic alleles in the presence of paternal leakage, bottlenecks and recurrent mutation. When fitness interactions among cytoplasmic elements within an individual are additive, we find that sexually antagonistic polymorphism is restricted to cases of strong selection on males. However, when fitness interactions among cytoplasmic elements are nonlinear, much more extensive polymorphism can be supported in the cytoplasm. In particular, mitochondrial mutants that have strong beneficial fitness effects in males and weak deleterious fitness effects in females when rare (i.e. ’reverse dominance’) are strongly favoured under paternal leakage. We discuss how such epistasis could arise through preferential segregation of mitochondria in sex-specific somatic tissues. Our analysis shows how paternal leakage can dampen the evolution of deleterious male effects associated with predominant maternal inheritance of cytoplasm, potentially explaining why ’mother's curse’ is less pervasive than predicted by earlier work. PMID:25653025

  18. Novel risk factor in gastroschisis: change of paternity.

    PubMed

    Chambers, Christina D; Chen, Brian H; Kalla, Kristin; Jernigan, Laura; Jones, Kenneth Lyons

    2007-04-01

    In recent years, an increase in the rate of gastroschisis has been documented in several countries throughout the world. Based on accumulating evidence that a maternal immunologic response to a novel set of paternal antigens may be involved in risk for several adverse pregnancy outcomes, including preeclampsia, reduced birth weight, and preterm delivery, we tested the hypothesis that a pregnancy following a change in fathers (change in paternity) may be a risk factor for gastroschisis. Using a case-control design, we compared the prevalence of change in paternity with the index pregnancy in 102 mothers of isolated gastroschisis cases to the prevalence of change in paternity in 117 mothers of non-malformed infants and 78 mothers of infants with neural tube defects or oral clefts. In a multivariate analysis, the adjusted odds of change in paternity in multigravid case mothers were 7.81 times higher (95% Confidence interval 2.80-21.88) relative to multigravid mothers of malformed and non-malformed controls combined, after adjustment for maternal age. These data suggest that maternal immune factors may play a role in the cause of gastroschisis. Further research is needed to corroborate these findings and to elucidate possible immunologic mechanisms involved in the pathogenesis of gastroschisis.

  19. Prader–Willi syndrome

    PubMed Central

    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. PMID:18781185

  20. 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

  1. Establishing paternity in whooping cranes (Grus Americana) by DNA analysis

    USGS Publications Warehouse

    Longmire, J.L.; Gee, G.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.

  2. Experimental parasite infection reveals costs and benefits of paternal effects

    PubMed Central

    Kaufmann, Joshka; Lenz, Tobias L; Milinski, Manfred; Eizaguirre, Christophe

    2014-01-01

    Forces shaping an individual's phenotype are complex and include transgenerational effects. Despite low investment into reproduction, a father's environment and phenotype can shape its offspring's phenotype. Whether and when such paternal effects are adaptive, however, remains elusive. Using three-spined sticklebacks in controlled infection experiments, we show that sperm deficiencies in exposed males compared to their unexposed brothers functionally translated into reduced reproductive success in sperm competition trials. In non-competitive fertilisations, offspring of exposed males suffered significant costs of reduced hatching success and survival but they reached a higher body condition than their counterparts from unexposed fathers after experimental infection. Interestingly, those benefits of paternal infection did not result from increased resistance but from increased tolerance to the parasite. Altogether, these results demonstrate that parasite resistance and tolerance are shaped by processes involving both genetic and non-genetic inheritance and suggest a context-dependent adaptive value of paternal effects. PMID:25168056

  3. The effects of advanced paternal age on fertility

    PubMed Central

    Kovac, Jason R; Addai, Josephine; Smith, Ryan P; Coward, Robert M; Lamb, Dolores J; Lipshultz, Larry I

    2013-01-01

    Modern societal pressures and expectations over the past several decades have resulted in the tendency for couples to delay conception. While women experience a notable decrease in oocyte production in their late thirties, the effect of age on spermatogenesis is less well described. While there are no known limits to the age at which men can father children, the effects of advanced paternal age are incompletely understood. This review summarizes the current state of knowledge regarding advanced paternal age and its implications on semen quality, reproductive success and offspring health. This review will serve as a guide to physicians in counseling men about the decision to delay paternity and the risks involved with conception later in life. PMID:23912310

  4. Paternal kin recognition and infant care in white-faced capuchins (Cebus capucinus).

    PubMed

    Sargeant, Elizabeth J; Wikberg, Eva C; Kawamura, Shoji; Jack, Katharine M; Fedigan, Linda M

    2016-06-01

    Evidence for paternal kin recognition and paternally biased behaviors is mixed among primates. We investigate whether infant handling behaviors exhibit paternal kin biases in wild white-faced capuchins monkeys (Cebus capucinus) by comparing interactions between infants and genetic sires, potential sires, siblings (full sibling, maternal, and paternal half-siblings) and unrelated handlers. We used a linear mixed model approach to analyze data collected on 21 focal infants from six groups in Sector Santa Rosa, Costa Rica. Our analyses suggest that the best predictor of adult and subadult male interactions with an infant is the male's dominance status, not his paternity status. We found that maternal siblings but not paternal siblings handled infants more than did unrelated individuals. We conclude that maternal but not paternal kinship influence patterns of infant handling in white-faced capuchins, regardless of whether or not they can recognize paternal kin. Am. J. Primatol. 78:659-668, 2016. © 2016 Wiley Periodicals, Inc. PMID:26815856

  5. The architecture of madness and the good of paternalism.

    PubMed

    Sine, David M

    2008-09-01

    From the era of the asylum to the present day, the architectural design of inpatient facilities has long been considered a contributing factor in the treatment of patients with mental and substance use disorders. The author examines the ethical basis for decisions about the design of psychiatric hospitals--architectural paternalism. The ethic of paternalism in the design of asylums and in contemporary thinking about psychiatric hospital design is described. The author argues that limitation of patients' autonomy and rights by the purpose-built architectural environment is legitimate and ethical.

  6. Calculation of paternity probabilities from multilocus DNA profiles.

    PubMed

    Brenner, C H; Rittner, C; Schneider, P M

    1994-02-01

    We describe a procedure for evaluation of paternity evidence from multi-locus DNA probe patterns. A computer program abstracts a "+/-" notation description from the multilocus profile and then calculates a paternity index based on observed phenotypic fragment frequencies. The biostatistical evaluation considers only bands found in the child and missing from the mother--a simplified approach that is at once robust and conservative. Mutations are of course taken into account. Particular features lending objectivity to the interpretation include computer reading and matching decisions, and specific recognition and statistical compensation for ambiguities ("faint orphans").

  7. 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.…

  8. Transcriptional quiescence of paternal mtDNA in cyprinid fish embryos.

    PubMed

    Wen, Ming; Peng, Liangyue; Hu, Xinjiang; Zhao, Yuling; Liu, Shaojun; Hong, Yunhan

    2016-01-01

    Mitochondrial homoplasmy signifies the existence of identical copies of mitochondrial DNA (mtDNA) and is essential for normal development, as heteroplasmy causes abnormal development and diseases in human. Homoplasmy in many organisms is ensured by maternal mtDNA inheritance through either absence of paternal mtDNA delivery or early elimination of paternal mtDNA. However, whether paternal mtDNA is transcribed has remained unknown. Here we report that paternal mtDNA shows late elimination and transcriptional quiescence in cyprinid fishes. Paternal mtDNA was present in zygotes but absent in larvae and adult organs of goldfish and blunt-snout bream, demonstrating paternal mtDNA delivery and elimination for maternal mtDNA inheritance. Surprisingly, paternal mtDNA remained detectable up to the heartbeat stage, suggesting its late elimination leading to embryonic heteroplasmy up to advanced embryogenesis. Most importantly, we never detected the cytb RNA of paternal mtDNA at all stages when paternal mtDNA was easily detectable, which reveals that paternal mtDNA is transcriptionally quiescent and thus excludes its effect on the development of heteroplasmic embryos. Therefore, paternal mtDNA in cyprinids shows late elimination and transcriptional quiescence. Clearly, transcriptional quiescence of paternal mtDNA represents a new mechanism for maternal mtDNA inheritance and provides implications for treating mitochondrion-associated diseases by mitochondrial transfer or replacement. PMID:27334806

  9. Transcriptional quiescence of paternal mtDNA in cyprinid fish embryos

    PubMed Central

    Wen, Ming; Peng, Liangyue; Hu, Xinjiang; Zhao, Yuling; Liu, Shaojun; Hong, Yunhan

    2016-01-01

    Mitochondrial homoplasmy signifies the existence of identical copies of mitochondrial DNA (mtDNA) and is essential for normal development, as heteroplasmy causes abnormal development and diseases in human. Homoplasmy in many organisms is ensured by maternal mtDNA inheritance through either absence of paternal mtDNA delivery or early elimination of paternal mtDNA. However, whether paternal mtDNA is transcribed has remained unknown. Here we report that paternal mtDNA shows late elimination and transcriptional quiescence in cyprinid fishes. Paternal mtDNA was present in zygotes but absent in larvae and adult organs of goldfish and blunt-snout bream, demonstrating paternal mtDNA delivery and elimination for maternal mtDNA inheritance. Surprisingly, paternal mtDNA remained detectable up to the heartbeat stage, suggesting its late elimination leading to embryonic heteroplasmy up to advanced embryogenesis. Most importantly, we never detected the cytb RNA of paternal mtDNA at all stages when paternal mtDNA was easily detectable, which reveals that paternal mtDNA is transcriptionally quiescent and thus excludes its effect on the development of heteroplasmic embryos. Therefore, paternal mtDNA in cyprinids shows late elimination and transcriptional quiescence. Clearly, transcriptional quiescence of paternal mtDNA represents a new mechanism for maternal mtDNA inheritance and provides implications for treating mitochondrion-associated diseases by mitochondrial transfer or replacement. PMID:27334806

  10. 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…

  11. Evolution of paternal care in diploid and haplodiploid populations.

    PubMed

    Davies, N G; Gardner, A

    2014-06-01

    W. D. Hamilton famously suggested that the inflated relatedness of full sisters under haplodiploidy explains why all workers in the social hymenoptera are female. This suggestion has not stood up to further theoretical scrutiny and is not empirically supported. Rather, it appears that altruistic sib-rearing in the social hymenoptera is performed exclusively by females because this behaviour has its origins in parental care, which was performed exclusively by females in the ancestors of this insect group. However, haplodiploidy might still explain the sex of workers if this mode of inheritance has itself been responsible for the rarity of paternal care in this group. Here, we perform a theoretical kin selection analysis to investigate the evolution of paternal care in diploid and haplodiploid populations. We find that haplodiploidy may either inhibit or promote paternal care depending on model assumptions, but that under the most plausible scenarios it promotes - rather than inhibits - paternal care. Our analysis casts further doubt upon there being a causal link between haplodiploidy and eusociality. PMID:24773069

  12. Fine mapping of paternal sorting of mitochondria (Psm) in cucumber

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cucumber is unique among plants because its mitochondrial DNA shows paternal transmission, is one of the largest known among all plants, due largely to short repetitive DNA motifs, and recombination among these repeats produces rearranged mitochondrial DNAs associated with strongly mosaic (MSC) phen...

  13. Fine mapping of paternal sorting of mitochondria (psm) in cucumber

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cucumber is unique among plants because its mitochondrial DNA shows paternal transmission, is one of the largest known among all plants, due largely to short repetitive DNA motifs, and undergoes recombination among repeats to produce rearranged mitochondrial DNAs associated with strongly mosaic (MSC...

  14. 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…

  15. 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…

  16. Mechanisms and consequences of paternally transmitted chromosomal abnormalities

    SciTech Connect

    Marchetti, F; Wyrobek, A J

    2005-04-05

    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. 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.

  17. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior....

  18. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior....

  19. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior....

  20. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior....

  1. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior....

  2. Paternalism v. autonomy - are we barking up the wrong tree?

    PubMed

    Lepping, Peter; Palmstierna, Tom; Raveesh, Bevinahalli N

    2016-08-01

    We explore whether we can reduce paternalism by increasing patient autonomy. We argue that autonomy should not have any automatic priority over other ethical values. Thus, balancing autonomy v. other ethical pillars and finding the optimal balance between the patient's wishes and those of other relevant stakeholders such as the patient's family has to be dynamic over time. PMID:27482035

  3. The paternity of the power law of human motor control.

    PubMed

    Kvålseth, T O

    1993-02-01

    It is pointed out that, contrary to a recent paternity claim, the power law of human motor control was first discovered by this author more than ten years ago. The classical Fitts' law is shown to be a special case of the power law.

  4. 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…

  5. 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

  6. Role-Playing for Inhibited Students in Paternal Communities.

    ERIC Educational Resources Information Center

    Al-Saadat, Abdullah I.; Afifi, Elhami A.

    1997-01-01

    Highlights classroom role playing in Saudi Arabian classrooms as a psychological aid that fosters self-confidence in inhibited, timid, hesitant, and passive students and relieves them of their paternal communicative limitations. Proposes an overall strategy for role-playing as an effective communicative activity that teachers can exploit to help…

  7. Genetic Analyses of Sorting of Paternally Transmitted Mitochondrial DNA

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The organelles are maternally transmitted in the vast majority of eukaryotes. However paternal transmission of plastids and mitochondria occurs rarely in plants. Cucumber is a unique model plant for organellar genetics because its three genomes show differential transmission: maternal for chlorop...

  8. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... Public Welfare Regulations Relating to Public Welfare OFFICE OF CHILD SUPPORT ENFORCEMENT (CHILD SUPPORT ENFORCEMENT PROGRAM), ADMINISTRATION FOR CHILDREN AND FAMILIES, DEPARTMENT OF HEALTH AND HUMAN SERVICES... child to establish paternity. (c) The IV-D agency must identify and use through competitive...

  9. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... Public Welfare Regulations Relating to Public Welfare OFFICE OF CHILD SUPPORT ENFORCEMENT (CHILD SUPPORT ENFORCEMENT PROGRAM), ADMINISTRATION FOR CHILDREN AND FAMILIES, DEPARTMENT OF HEALTH AND HUMAN SERVICES... child to establish paternity. (c) The IV-D agency must identify and use through competitive...

  10. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... Public Welfare Regulations Relating to Public Welfare OFFICE OF CHILD SUPPORT ENFORCEMENT (CHILD SUPPORT ENFORCEMENT PROGRAM), ADMINISTRATION FOR CHILDREN AND FAMILIES, DEPARTMENT OF HEALTH AND HUMAN SERVICES... child to establish paternity. (c) The IV-D agency must identify and use through competitive...

  11. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... Public Welfare Regulations Relating to Public Welfare OFFICE OF CHILD SUPPORT ENFORCEMENT (CHILD SUPPORT ENFORCEMENT PROGRAM), ADMINISTRATION FOR CHILDREN AND FAMILIES, DEPARTMENT OF HEALTH AND HUMAN SERVICES... child to establish paternity. (c) The IV-D agency must identify and use through competitive...

  12. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... Public Welfare Regulations Relating to Public Welfare OFFICE OF CHILD SUPPORT ENFORCEMENT (CHILD SUPPORT ENFORCEMENT PROGRAM), ADMINISTRATION FOR CHILDREN AND FAMILIES, DEPARTMENT OF HEALTH AND HUMAN SERVICES... child to establish paternity. (c) The IV-D agency must identify and use through competitive...

  13. Genetic mapping of paternal sorting of mitochondria in cucumber.

    PubMed

    Calderon, Claudia I; Yandell, Brian S; Havey, Michael J

    2012-06-01

    Mitochondria are organelles that have their own DNA; serve as the powerhouses of eukaryotic cells; play important roles in stress responses, programmed cell death, and ageing; and in the vast majority of eukaryotes, are maternally transmitted. Strict maternal transmission of mitochondria makes it difficult to select for better-performing mitochondria, or against deleterious mutations in the mitochondrial DNA. Cucumber is a useful plant for organellar genetics because its mitochondria are paternally transmitted and it possesses one of the largest mitochondrial genomes among all eukaryotes. Recombination among repetitive motifs in the cucumber mitochondrial DNA produces rearrangements associated with strongly mosaic (MSC) phenotypes. We previously reported nuclear control of sorting among paternally transmitted mitochondrial DNAs. The goal of this project was to map paternal sorting of mitochondria as a step towards its eventual cloning. We crossed single plants from plant introduction (PI) 401734 and Cucumis sativus var. hardwickii and produced an F(2) family. A total of 425 F(2) plants were genotyped for molecular markers and testcrossed as the female with MSC16. Testcross families were scored for frequencies of wild-type versus MSC progenies. Discrete segregations for percent wild-type progenies were not observed and paternal sorting of mitochondria was therefore analyzed as a quantitative trait. A major quantitative trait locus (QTL; LOD >23) was mapped between two simple sequence repeats encompassing a 459-kb region on chromosome 3. Nuclear genes previously shown to affect the prevalence of mitochondrial DNAs (MSH1, OSB1, and RECA homologs) were not located near this major QTL on chromosome 3. Sequencing of this region from PI 401734, together with improved annotation of the cucumber genome, should result in the eventual cloning of paternal sorting of mitochondria and provide insights about nuclear control of organellar-DNA sorting.

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

    SciTech Connect

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

    1994-09-01

    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. Southern 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.

  15. Airway statuses and nasopharyngeal airway use for airway obstruction in syndromic craniosynostosis.

    PubMed

    Kouga, Takeshi; Tanoue, Koji; Matsui, Kiyoshi

    2014-05-01

    Syndromic craniosynostosis is associated with a high rate of respiratory difficulty, due mainly to midfacial hypoplasia. Nasopharyngeal airway establishment has been reported as the first-line approach to airway obstruction and may obviate the need for a highly invasive tracheotomy. No previous studies have compared airway obstruction status in syndromic craniosynostosis between cases requiring and not requiring airway managements. We focus on nasopharyngeal airway use and airway status outcomes to assess respiratory difficulty in patients with syndromic craniosynostosis. A retrospective data analysis of 51 cases with syndromic craniosynostosis was carried out. We divided 30 of the 51 cases with lateral pharyngeal x-rays taken before operations affecting airway diameters into 2 groups, one with neither nasopharyngeal airway insertion nor tracheotomy and the other with one or both of these interventions, and the mean diameters for 8 indices related to the pharyngeal space were compared. Cases with respiratory difficulty due to nasopharyngeal stenosis and requiring airway managements comprised a significantly higher proportion of those with Pfeiffer syndrome than patients with Crouzon or Apert syndrome. Comparative examination of lateral x-ray cephalometry between cases with neither nasopharyngeal airway insertion nor tracheotomy and cases with one or both revealed oropharyngeal diameters tended to be smaller in those with interventions. Cases requiring nasopharyngeal airway insertion were able to continue nasopharyngeal airway use for more than 1 year and a considerable number avoided tracheotomy. It may be worth considering an oropharyngeal-bypass nasopharyngeal airway before performing a tracheotomy. PMID:24820706

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

    PubMed Central

    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; Daniele Fallin, M; Feinberg, Andrew P

    2015-01-01

    Background: 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. Objectives: 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. Methods: 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. Results: 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. Conclusions

  17. Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice.

    PubMed

    Jones, Kelly A; Han, Ji Eun; DeBruyne, Jason P; Philpot, Benjamin D

    2016-01-01

    Mutations or deletions of the maternal allele of the UBE3A gene cause Angelman syndrome (AS), a severe neurodevelopmental disorder. The paternal UBE3A/Ube3a allele becomes epigenetically silenced in most neurons during postnatal development in humans and mice; hence, loss of the maternal allele largely eliminates neuronal expression of UBE3A protein. However, recent studies suggest that paternal Ube3a may escape silencing in certain neuron populations, allowing for persistent expression of paternal UBE3A protein. Here we extend evidence in AS model mice (Ube3a(m-/p+)) of paternal UBE3A expression within the suprachiasmatic nucleus (SCN), the master circadian pacemaker. Paternal UBE3A-positive cells in the SCN show partial colocalization with the neuropeptide arginine vasopressin (AVP) and clock proteins (PER2 and BMAL1), supporting that paternal UBE3A expression in the SCN is often of neuronal origin. Paternal UBE3A also partially colocalizes with a marker of neural progenitors, SOX2, implying that relaxed or incomplete imprinting of paternal Ube3a reflects an overall immature molecular phenotype. Our findings highlight the complexity of Ube3a imprinting in the brain and illuminate a subpopulation of SCN neurons as a focal point for future studies aimed at understanding the mechanisms of Ube3a imprinting. PMID:27306933

  18. Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice

    PubMed Central

    Jones, Kelly A.; Han, Ji Eun; DeBruyne, Jason P.; Philpot, Benjamin D.

    2016-01-01

    Mutations or deletions of the maternal allele of the UBE3A gene cause Angelman syndrome (AS), a severe neurodevelopmental disorder. The paternal UBE3A/Ube3a allele becomes epigenetically silenced in most neurons during postnatal development in humans and mice; hence, loss of the maternal allele largely eliminates neuronal expression of UBE3A protein. However, recent studies suggest that paternal Ube3a may escape silencing in certain neuron populations, allowing for persistent expression of paternal UBE3A protein. Here we extend evidence in AS model mice (Ube3am–/p+) of paternal UBE3A expression within the suprachiasmatic nucleus (SCN), the master circadian pacemaker. Paternal UBE3A-positive cells in the SCN show partial colocalization with the neuropeptide arginine vasopressin (AVP) and clock proteins (PER2 and BMAL1), supporting that paternal UBE3A expression in the SCN is often of neuronal origin. Paternal UBE3A also partially colocalizes with a marker of neural progenitors, SOX2, implying that relaxed or incomplete imprinting of paternal Ube3a reflects an overall immature molecular phenotype. Our findings highlight the complexity of Ube3a imprinting in the brain and illuminate a subpopulation of SCN neurons as a focal point for future studies aimed at understanding the mechanisms of Ube3a imprinting. PMID:27306933

  19. Paternal diet defines offspring chromatin state and intergenerational obesity.

    PubMed

    Öst, Anita; Lempradl, Adelheid; Casas, Eduard; Weigert, Melanie; Tiko, Theodor; Deniz, Merdin; Pantano, Lorena; Boenisch, Ulrike; Itskov, Pavel M; Stoeckius, Marlon; Ruf, Marius; Rajewsky, Nikolaus; Reuter, Gunter; Iovino, Nicola; Ribeiro, Carlos; Alenius, Mattias; Heyne, Steffen; Vavouri, Tanya; Pospisilik, J Andrew

    2014-12-01

    The global rise in obesity has revitalized a search for genetic and epigenetic factors underlying the disease. We present a Drosophila model of paternal-diet-induced intergenerational metabolic reprogramming (IGMR) and identify genes required for its encoding in offspring. Intriguingly, we find that as little as 2 days of dietary intervention in fathers elicits obesity in offspring. Paternal sugar acts as a physiological suppressor of variegation, desilencing chromatin-state-defined domains in both mature sperm and in offspring embryos. We identify requirements for H3K9/K27me3-dependent reprogramming of metabolic genes in two distinct germline and zygotic windows. Critically, we find evidence that a similar system may regulate obesity susceptibility and phenotype variation in mice and humans. The findings provide insight into the mechanisms underlying intergenerational metabolic reprogramming and carry profound implications for our understanding of phenotypic variation and evolution.

  20. Patient Care and Paternalism: Dilemmas of Family Practice

    PubMed Central

    Wilbush, Joel

    1990-01-01

    From the clinical records of a country doctor, this vignette concerns a teenaged girl who, having refused treatment, is persuaded, under near duress, to accept a regimen that her family physician considers best for her. Although apparently arrogant paternalism, the practitioner's approach proves, on reflection, to possess considerable merit. The author discusses the ethical principles that have led to rejection of paternalism in the West. Formulated as absolute maxims, they soon require, like all absolutes, a multitude of explanations and additions. Some logical, social, and other “exceptions” are briefly mentioned, because the old doctor's intuitive actions seem to have oddly coincided with a number of them. Yet the questions remain: Should this medical practitioner have become so deeply involved? Should he have interfered with his patient's autonomy to the extent he did? Was he justified? PMID:11659246

  1. Modifiers of epigenetic reprogramming show paternal effects in the mouse

    PubMed Central

    Chong, Suyinn; Vickaryous, Nicola; Ashe, Alyson; Zamudio, Natasha; Youngson, Neil; Hemley, Sarah; Stopka, Tomas; Skoultchi, Arthur; Matthews, Jacqui; Scott, Hamish S; de Kretser, David; O’Bryan, Moira; Blewitt, Marnie; Whitelaw, Emma

    2011-01-01

    There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of heterozygosity for mutations in genes involved in reprogramming, could affect the phenotype of offspring that do not inherit the mutant allele. Here we show that such effects do occur following paternal inheritance in the mouse. We detected changes to transcription and chromosome ploidy in adult animals. Paternal effects of this type have not been reported previously in mammals and suggest that the untransmitted genotype of male parents can influence the phenotype of their offspring. PMID:17450140

  2. Paternal diet defines offspring chromatin state and intergenerational obesity.

    PubMed

    Öst, Anita; Lempradl, Adelheid; Casas, Eduard; Weigert, Melanie; Tiko, Theodor; Deniz, Merdin; Pantano, Lorena; Boenisch, Ulrike; Itskov, Pavel M; Stoeckius, Marlon; Ruf, Marius; Rajewsky, Nikolaus; Reuter, Gunter; Iovino, Nicola; Ribeiro, Carlos; Alenius, Mattias; Heyne, Steffen; Vavouri, Tanya; Pospisilik, J Andrew

    2014-12-01

    The global rise in obesity has revitalized a search for genetic and epigenetic factors underlying the disease. We present a Drosophila model of paternal-diet-induced intergenerational metabolic reprogramming (IGMR) and identify genes required for its encoding in offspring. Intriguingly, we find that as little as 2 days of dietary intervention in fathers elicits obesity in offspring. Paternal sugar acts as a physiological suppressor of variegation, desilencing chromatin-state-defined domains in both mature sperm and in offspring embryos. We identify requirements for H3K9/K27me3-dependent reprogramming of metabolic genes in two distinct germline and zygotic windows. Critically, we find evidence that a similar system may regulate obesity susceptibility and phenotype variation in mice and humans. The findings provide insight into the mechanisms underlying intergenerational metabolic reprogramming and carry profound implications for our understanding of phenotypic variation and evolution. PMID:25480298

  3. Multiple paternity in the loggerhead turtle (Caretta caretta).

    PubMed

    Harry, J L; Briscoe, D A

    1988-01-01

    Genotypic ratios within clutches of loggerhead turtle (Caretta caretta) embryos, from the Mon Repos rookery (Queensland), deviate significantly from the Mendelian ratios expected on the null hypothesis of single paternity. One-third of all clutches provide evidence for multiple insemination, indicating that multiple mating constitutes the major breeding pattern for C. caretta. Clutches from two females indicate that C. caretta females may mate between nestings.

  4. [Transferrin variants: significance and identification in paternity cases (author's transl)].

    PubMed

    Mauff, G; Doppelfeld, E; Weber, W

    1975-08-01

    Transferrin phenotypes were determined in 3380 sera of unrelated persons of the western region of Germany with 97.60 percent for TfC and 2.40 percent for Tf variants. Identification was achieved by immunochemical means or through autoradiography. Relative mobilities in some variants were measured using Tf B2C (0.7) as reference. Application of Tf variants is demonstrated in paternity cases.

  5. Paternally biased X inactivation in mouse neonatal brain

    PubMed Central

    2010-01-01

    Background X inactivation in female eutherian mammals has long been considered to occur at random in embryonic and postnatal tissues. Methods for scoring allele-specific differential expression with a high degree of accuracy have recently motivated a quantitative reassessment of the randomness of X inactivation. Results After RNA-seq data revealed what appeared to be a chromosome-wide bias toward under-expression of paternal alleles in mouse tissue, we applied pyrosequencing to mouse brain cDNA samples from reciprocal cross F1 progeny of divergent strains and found a small but consistent and highly statistically significant excess tendency to under-express the paternal X chromosome. Conclusions The bias toward paternal X inactivation is reminiscent of marsupials (and extraembryonic tissues in eutherians), suggesting that there may be retained an evolutionarily conserved epigenetic mark driving the bias. Allelic bias in expression is also influenced by the sampling effect of X inactivation and by cis-acting regulatory variation (eQTL), and for each gene we quantify the contributions of these effects in two different mouse strain combinations while controlling for variability in Xce alleles. In addition, we propose an efficient method to identify and confirm genes that escape X inactivation in normal mice by directly comparing the allele-specific expression ratio profile of multiple X-linked genes in multiple individuals. PMID:20663224

  6. 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.

  7. Multiple paternity does not depend on male genetic diversity.

    PubMed

    Thonhauser, Kerstin E; Raveh, Shirley; Penn, Dustin J

    2014-07-01

    Polyandry is common in many species and it has been suggested that females engage in multiple mating to increase the genetic diversity of their offspring (genetic diversity hypothesis). Multiple paternity occurs in 30% of litters in wild populations of house mice, Mus musculus musculus, and multiple-sired litters are genetically more diverse than single-sired ones. Here, we aimed to test whether female house mice produce multiple-sired litters when they have the opportunity to produce genetically diverse litters. We assessed the rates of multiple paternity when females could choose to mate with two males that were genetically dissimilar to each other (i.e. nonsiblings and MHC dissimilar) compared with when females could choose to mate with two males that were genetically similar to each other (i.e. siblings and shared MHC alleles). Multiple mating may depend upon a female's own condition, and, therefore, we also tested whether inbred (from full-sibling matings) females were more likely to produce multiple-sired progeny than outbred controls. Overall we found that 29% of litters had multiple sires, but we found no evidence that females were more likely to produce multiple-sired litters when they had the opportunity to mate with genetically dissimilar males compared with controls, regardless of whether females were inbred or outbred. Thus, our findings do not support the idea that female mice increase multiple paternity when they have the opportunity to increase the genetic diversity of their offspring, as expected from the genetic diversity hypothesis.

  8. Paternal fenvalerate exposure influences reproductive functions in the offspring.

    PubMed

    Xia, Dong; Parvizi, Nahid; Zhou, Yuchuan; Xu, Kesi; Jiang, Hui; Li, Rongjie; Hang, Yiqiong; Lu, Yang

    2013-11-01

    Fenvalerate (Fen), a synthetic pyrethroid insecticide, has been shown to have adverse effects on male reproductive system. Thus, the aim of the present study was to elucidate whether these adverse effects are passed from exposed male mice to their offspring. Adult male mice received Fen (10 mg/kg) daily for 30 days and mated with untreated females to produce offspring. Fenvalerate significantly changed the methylation status of angiotensin I-converting enzyme (Ace), forkhead box O3 (Foxo3a), huntingtin-associated protein 1 (Hap1), nuclear receptor subfamily 3 (Nr3c2), promyelocytic leukemia (Pml), and Prostaglandin F2 receptor negative regulator (Ptgfrn) genes in paternal mice sperm genomic DNA. Further, Fen significantly increased sperm abnormalities; serum testosterone and estradiol-17ß level in adult male (F0) and their male offspring (F1). Further, paternal Fen treatment significantly increased the length of estrous cycle, serum estradiol-17ß concentration in estrus, and progesterone levels in diestrus in female offspring (F1). These findings suggest that adverse effects of paternal Fen exposure on reproductive functions can be seen not only in treated males (F0) but also in their offsprings. PMID:23548413

  9. Multiple paternity does not depend on male genetic diversity

    PubMed Central

    Thonhauser, Kerstin E.; Raveh, Shirley; Penn, Dustin J.

    2014-01-01

    Polyandry is common in many species and it has been suggested that females engage in multiple mating to increase the genetic diversity of their offspring (genetic diversity hypothesis). Multiple paternity occurs in 30% of litters in wild populations of house mice, Mus musculus musculus, and multiple-sired litters are genetically more diverse than single-sired ones. Here, we aimed to test whether female house mice produce multiple-sired litters when they have the opportunity to produce genetically diverse litters. We assessed the rates of multiple paternity when females could choose to mate with two males that were genetically dissimilar to each other (i.e. nonsiblings and MHC dissimilar) compared with when females could choose to mate with two males that were genetically similar to each other (i.e. siblings and shared MHC alleles). Multiple mating may depend upon a female's own condition, and, therefore, we also tested whether inbred (from full-sibling matings) females were more likely to produce multiple-sired progeny than outbred controls. Overall we found that 29% of litters had multiple sires, but we found no evidence that females were more likely to produce multiple-sired litters when they had the opportunity to mate with genetically dissimilar males compared with controls, regardless of whether females were inbred or outbred. Thus, our findings do not support the idea that female mice increase multiple paternity when they have the opportunity to increase the genetic diversity of their offspring, as expected from the genetic diversity hypothesis. PMID:25018559

  10. 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

  11. Paternal Experience and Stress Responses in California Mice (Peromyscus californicus)

    PubMed Central

    Bardi, Massimo; Franssen, Catherine L; Hampton, Joseph E; Shea, Eleanor A; Fanean, Amanda P; Lambert, Kelly G

    2011-01-01

    Paternal behavior greatly affects the survival, social development, and cognitive development of infants. Nevertheless, little research has been done to assess how paternal experience modifies the behavioral characteristics of fathers, including fear and stress responses to a novel environment. We investigated long-term behavioral and physiologic effects of parental experience in mice (Peromyscus californicus) and how this response activates the hypothalamic–pituitary–adrenal axis (as measured by corticosterone and dehydroepiandrosterone [DHEA] levels) and interacts with anxiety-related behaviors. Three groups of adult males were tested—fathers exposed to pups, virgins exposed to pups, and virgins never exposed to pups—in 2 environments designed to elicit anxiety response: an open field with a novel object placed in the center and a closed cage containing a sample of a component of fox feces. Behavioral responses were measured by using traditional methods (duration and frequency) and behavioral-chain sequences. Results indicated that paternal experience significantly modifies a male mouse's behavioral and physiologic responses to stress-provoking stimuli. Compared with inexperienced male mice, experienced male mice had a significant decrease in the occurrence of incomplete behavioral chains during the exposure to the novel object, an index of reduced stress. Further, even moderate pup exposure induced behavioral modifications in virgin male mice. These behavioral responses were correlated with changes in corticosterone and DHEA levels. Together, these data provide evidence that interactions between male mice and offspring may have mutually beneficial long-term behavioral and physiologic effects. PMID:21819678

  12. 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.

  13. Maternal inheritance of mitochondrial DNA: degradation of paternal mitochondria by allogeneic organelle autophagy, allophagy.

    PubMed

    Sato, Miyuki; Sato, Ken

    2012-03-01

    Maternal inheritance of mitochondrial DNA (mtDNA) is generally observed in many eukaryotes. Sperm-derived paternal mitochondria and their mtDNA enter the oocyte cytoplasm upon fertilization and then normally disappear during early embryogenesis. However, the mechanism underlying this clearance of paternal mitochondria has remained largely unknown. Recently, we showed that autophagy is required for the elimination of paternal mitochondria in Caenorhabditis elegans embryos. Shortly after fertilization, autophagosomes are induced locally around the penetrated sperm components. These autophagosomes engulf paternal mitochondria, resulting in their lysosomal degradation during early embryogenesis. In autophagy-defective zygotes, paternal mitochondria and their genomes remain even in the larval stage. Therefore, maternal inheritance of mtDNA is accomplished by autophagic degradation of paternal mitochondria. We also found that another kind of sperm-derived structure, called the membranous organelle, is degraded by zygotic autophagy as well. We thus propose to term this allogeneic (nonself) organelle autophagy as allophagy.

  14. Paternal modeling, household availability, and paternal intake as predictors of fruit, vegetable, and sweetened beverage consumption among African American children.

    PubMed

    Harris, Toni S; Ramsey, Michael

    2015-02-01

    The current study examined how African American fathers' dietary practices were associated with their children's dietary consumption. The sample consisted of one hundred and two African American fathers, who had children between the ages of three and thirteen. The fathers provided self-reports of their consumption of fruits, vegetables, and sugar sweetened beverages; modeling of healthy eating; household availability of foods and beverages; and their children's previously mentioned consumption. Sweetened beverages are considered to be any beverage that contains added sweeteners, high-fructose corn syrup, and/or fruit juice concentrates. Paternal modeling and household availability of food and beverages were measured using subscales from the Comprehensive Feeding Practices Questionnaire (CFPQ). Three separate hierarchical regressions were performed to reveal that child fruit and vegetable consumption was only predicted by parental intake. Child sweetened beverage consumption, however, was predicted by paternal intake and household availability. Modeling did not significantly predict children's consumption of fruits, vegetables, or sweetened beverages. The findings suggest that paternal intake of fruits, vegetables, and sweetened beverages predicts child consumption of fruits, vegetables, and sweetened beverages. Family efforts should be made toward increasing father's consumption of healthy foods while decreasing the consumption and availability of sweetened beverages. PMID:25447009

  15. Multiple paternity in the red-eyed treefrog Agalychnis callidryas (Cope).

    PubMed

    d'Orgeix, C A; Turner, B J

    1995-08-01

    DNA fingerprinting of tadpoles from two different 'one female-two male' matings of the red-eyed treefrog, Agalychnis callidryas, revealed multiple paternity of offspring. Offspring were assigned paternity based on bands shared with the putative father, but not shared between putative fathers or with the mother. Paternity was split approximately 44/56% and 36/64% in two matings. These results do not support a hypothesis of sperm priority in access to unfertilized eggs by primary males. Multiple paternity may be commonplace in species of anurans with matings by multiple males.

  16. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found. PMID:26040994

  17. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

    PubMed

    Meng, Linyan; Ward, Amanda J; Chun, Seung; Bennett, C Frank; Beaudet, Arthur L; Rigo, Frank

    2015-02-19

    Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, speech impairment, seizures and ataxia. It is caused by maternal deficiency of the imprinted gene UBE3A, encoding an E3 ubiquitin ligase. All patients carry at least one copy of paternal UBE3A, which is intact but silenced by a nuclear-localized long non-coding RNA, UBE3A antisense transcript (UBE3A-ATS). Murine Ube3a-ATS reduction by either transcription termination or topoisomerase I inhibition has been shown to increase paternal Ube3a expression. Despite a clear understanding of the disease-causing event in Angelman syndrome and the potential to harness the intact paternal allele to correct the disease, no gene-specific treatment exists for patients. Here we developed a potential therapeutic intervention for Angelman syndrome by reducing Ube3a-ATS with antisense oligonucleotides (ASOs). ASO treatment achieved specific reduction of Ube3a-ATS and sustained unsilencing of paternal Ube3a in neurons in vitro and in vivo. Partial restoration of UBE3A protein in an Angelman syndrome mouse model ameliorated some cognitive deficits associated with the disease. Although additional studies of phenotypic correction are needed, we have developed a sequence-specific and clinically feasible method to activate expression of the paternal Ube3a allele. PMID:25470045

  18. 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. PMID:27318522

  19. Paternal deprivation prior to adolescence and vulnerability to pituitary adenomas.

    PubMed

    Sobrinho, L G; Duarte, J S; Paiva, I; Gomes, L; Vicente, V; Aguiar, P

    2012-06-01

    It has been reported that women with prolactinoma were exposed, early in life, to an environment characterized by an absent or violent father. The present study was designed to evaluate whether paternal absence or violent paternal behavior were more prevalent in patients with pituitary adenomas (prolactinoma, acromegaly, non-secreting adenoma and Cushing's disease) compared to a control population. We conducted an observational case-control multicenter study. We interviewed 395 patients with prolactinoma (296 females and 99 males), 130 with acromegaly (87 females and 43 males), 237 with non-secreting adenoma (144 females and 93 males) and 68 with Cushing's disease (61 females and 7 males) and 365 patients from the same clinics with nodular thyroid disease or lymphocytic thyroiditis with euthyroidism as controls. Violent or absent fathers were significantly more prevalent in patients with prolactinoma or acromegaly than in controls (P = 0.001 and P = 0.002, respectively) but not in patients with non-secreting adenoma or corticotrophinoma. Absent fathers in prolactinoma and acromegaly versus controls: P = 0.001 and P = 0.119. Violent fathers in prolactinoma and acromegaly versus controls: P = 0.069 and P = 0.001. The prevalence of absent or violent fathers was also significantly higher in prolactinoma and acromegaly when compared to non-secreting adenoma (P = 0.039 and P = 0.033, respectively). Paternal deprivation before adolescence may be a risk factor for prolactinoma and acromegaly but not for non-secreting pituitary adenomas or Cushing's disease.

  20. 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

  1. Paternal influences on pregnancy complications and birth outcomes

    SciTech Connect

    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 research 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.

  2. A note on paternity computation in cases lacking a mother.

    PubMed

    Brenner, C H

    1993-01-01

    When the mother is unavailable for parentage testing, a calculation must usually be based on types determined for the child and the alleged father. Particularly in the case of DNA typing, the formula is easy to derive. The correct formula is apparently not widely known, however, and in fact, a formula that is obviously incorrect seems often to be used and quoted. The correct method of derivation is indicated, and formulae are given for the various possibilities for patterns of gene-sharing between child and alleged father. In most cases paternity = 1/4Pr(shared allele) is an adequate formula.

  3. 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

  4. Polygynandry, extra-group paternity and multiple-paternity litters in European badger (Meles meles) social groups.

    PubMed

    Dugdale, Hannah L; Macdonald, David W; Pope, Lisa C; Burke, Terry

    2007-12-01

    The costs and benefits of natal philopatry are central to the formation and maintenance of social groups. Badger groups, thought to form passively according to the resource dispersion hypothesis (RDH), are maintained through natal philopatry and delayed dispersal; however, there is minimal evidence for the functional benefits of such grouping. We assigned parentage to 630 badger cubs from a high-density population in Wytham Woods, Oxford, born between 1988 and 2005. Our methodological approach was different to previous studies; we used 22 microsatellite loci to assign parent pairs, which in combination with sibship inference provided a high parentage assignment rate. We assigned both parents to 331 cubs at > or = 95% confidence, revealing a polygynandrous mating system with up to five mothers and five fathers within a social group. We estimated that only 27% of adult males and 31% of adult females bred each year, suggesting a cost to group living for both sexes. Any strong motivation or selection to disperse, however, may be reduced because just under half of the paternities were gained by extra-group males, mainly from neighbouring groups, with males displaying a mixture of paternity strategies. We provide the strongest evidence to date for multiple-paternity litters, and for the first time show that within-group and extra-group males can sire cubs in the same litter. We investigate the factors that may play a role in determining the degree of delayed dispersal and conclude that the ecological constraints hypothesis, benefits of philopatry hypothesis, and life history hypothesis may all play a part, as proposed by the broad constraints hypothesis. PMID:17971085

  5. 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…

  6. Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy loss.

    PubMed

    Wolf, G C; Mao, J; Izquierdo, L; Joffe, G

    1994-02-01

    A paternal pericentric inversion of chromosome 4 was ascertained through karyotype analysis of an abortus specimen proven to be 46,XX,rec(4),dup q, inv (4)(p13q28). The relationship of paternal pericentric inversion to pregnancy loss is discussed, and a recommendation for karyotype analysis of recurrent abortion specimens is made.

  7. Paternal Child Care and Relationship Quality: A Longitudinal Analysis of Reciprocal Associations

    ERIC Educational Resources Information Center

    Schober, Pia S.

    2012-01-01

    This study explored reciprocal associations between paternal child-care involvement and relationship quality by following British couples from the birth of a child until he or she reached school age. It extends the literature by distinguishing between paternal engagement in absolute terms and relative to the mother and by considering relationship…

  8. Maternal and Paternal Parenting during Adolescence: Forecasting Early Adult Psychosocial Adjustment.

    ERIC Educational Resources Information Center

    Jones, Deborah J.; Forehand, Rex; Beach, Steven R. H.

    2000-01-01

    Investigates the relationship of maternal and paternal parenting behavior during adolescence to four domains of early adult functioning. Higher levels of maternal firm control were associated with more secure early adult romantic attachment and lower levels of educational achievement. There were no main effects for fathers, but paternal parenting…

  9. 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.

  10. Regulatory role of prolactin in paternal behavior in male parents: A narrative review

    PubMed Central

    Hashemian, F; Shafigh, F; Roohi, E

    2016-01-01

    In all mammalian species, a combination of neuroendocrine and experiential factors contributes to the emergence of remarkable behavioral changes observed in parental behavior. Yet, our understanding of neuroendocrine bases of paternal behavior in humans is still preliminary and more research is needed in this area. In the present review, the authors summarized hormonal bases of paternal behavior in both human and nonhuman mammalian species and focused on studies on the regulatory role of prolactin in occurrence of paternal behavior. All peer-reviewed journal articles published before 2015 for each area discussed (parental brain, hormonal bases of maternal behavior, hormonal bases of paternal behavior and the role of prolactin in regulation of paternal behavior in nonhuman mammalian species, hormonal bases of paternal behavior and the role of prolactin in regulation of paternal behavior in humans) were searched by PubMed, Medline, and Scopus for original research and review articles. Publications between 1973 and 2015 were included. Similar to female parents, elevated prolactin levels in new fathers most probably contribute to child-caring behavior and facilitate behavioral and emotional states attributed to child care. Moreover, elevated parental prolactin levels after childbirth decrease the parents’ libidos so that they invest more in parental care than in fertility behavior. According to the available clinical studies, elevation in the amounts of prolactin levels after childbirth in male parents are probably associated with paternal behavior observed in humans. PMID:27424551

  11. 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…

  12. Demographic correlates of paternity confidence and pregnancy outcomes among Albuquerque men.

    PubMed

    Anderson, Kermyt G; Kaplan, Hillard; Lancaster, Jane B

    2006-12-01

    We examine the demographic correlates of paternity confidence, or men's assessment of the likelihood that they are the genetic father of a particular child. Evolutionary theory predicts that men will provide less parental investment for putative genetic offspring who are unlikely to be their actual offspring, but confidence of paternity has not been as extensively examined as its importance would merit. Using self-reported data on paternity confidence in 3,360 pregnancies reported by men living in Albuquerque, New Mexico, we find that low paternity confidence is more common among unmarried couples and for unplanned pregnancies. We also find that men are more likely not to state paternity confidence (i.e., they refuse to answer the question) if a pregnancy is unplanned. We additionally examine the pregnancy outcomes associated with confidence of paternity. We find that low paternity confidence pregnancies are significantly more likely to be aborted, and pregnancies for which paternity confidence is unstated are more likely to be aborted or to miscarry. Both abortion and miscarriage are associated with unmarried couples, with unplanned pregnancies, and with couples who have fewer children together.

  13. 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…

  14. 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

  15. 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…

  16. 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. PMID:26811909

  17. Polyandry in dragon lizards: inbred paternal genotypes sire fewer offspring

    PubMed Central

    Frère, Celine H; Chandrasoma, Dani; Whiting, Martin J

    2015-01-01

    Multiple mating in female animals is something of a paradox because it can either be risky (e.g., higher probability of disease transmission, social costs) or provide substantial fitness benefits (e.g., genetic bet hedging whereby the likelihood of reproductive failure is lowered). The genetic relatedness of parental units, particularly in lizards, has rarely been studied in the wild. Here, we examined levels of multiple paternity in Australia's largest agamid lizard, the eastern water dragon (Intellagama lesueurii), and determined whether male reproductive success is best explained by its heterozygosity coefficient or the extent to which it is related to the mother. Female polyandry was the norm: 2/22 clutches (9.2%) were sired by three or more fathers, 17/22 (77.2%) were sired by two fathers, and only 3/22 (13.6%) clutches were sired by one father. Moreover, we reconstructed the paternal genotypes for 18 known mother–offspring clutches and found no evidence that females were favoring less related males or that less related males had higher fitness. However, males with greater heterozygosity sired more offspring. While the postcopulatory mechanisms underlying this pattern are not understood, female water dragons likely represent another example of reproduction through cryptic means (sperm selection/sperm competition) in a lizard, and through which they may ameliorate the effects of male-driven precopulatory sexual selection. PMID:25937911

  18. Multiple paternity in a viviparous toad with internal fertilisation

    NASA Astrophysics Data System (ADS)

    Sandberger-Loua, Laura; Feldhaar, Heike; Jehle, Robert; Rödel, Mark-Oliver

    2016-08-01

    Anurans are renowned for a high diversity of reproductive modes, but less than 1 % of species exhibit internal fertilisation followed by viviparity. In the live-bearing West African Nimba toad ( Nimbaphrynoides occidentalis), females produce yolk-poor eggs and internally nourish their young after fertilisation. Birth of fully developed juveniles takes place after 9 months. In the present study, we used genetic markers (eight microsatellite loci) to assign the paternity of litters of 12 females comprising on average 9.7 juveniles. In 9 out of 12 families (75 %), a single sire was sufficient; in three families (25 %), more than one sire was necessary to explain the observed genotypes in each family. These findings are backed up with field observations of male resource defence (underground cavities in which mating takes place) as well as coercive mating attempts, suggesting that the observed moderate level of multiple paternity in a species without distinct sperm storage organs is governed by a balance of female mate choice and male reproductive strategies.

  19. Normal phenotype with paternal uniparental isodisomy for chromosome 21

    SciTech Connect

    Blouin, J.L.; Avramopoulos, D. ); Pangalos, C.; Antonarakis, S.E.

    1993-11-01

    Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, the authors analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. The authors obtained genotypes for the proband and his parents' leukocyte DNAs from 17 highly informative short sequence repeat polymorphisms that map in the pericentromeric region and along the entire length of 21q. The order of the markers has been previously determined through the linkage and physical maps of this chromosome. For the nine informative markers there was no maternal allele contribution to the genotype of the proband; in addition, there was always reduction to homozygosity of a paternal allele. These data indicated that there was paternal uniparental isodisomy for chromosome 21 (pUPiD21). The authors conclude that pUPiD21 is not associated with abnormal phenotypes and that there are probably no imprinted genes on chromosome 21. 36 refs., 3 figs.

  20. Multiple paternity in a salamander with socially monogamous behaviour.

    PubMed

    Liebgold, Eric B; Cabe, Paul R; Jaeger, Robert G; Leberg, Paul L

    2006-11-01

    In the majority of birds and mammals, social monogamy is not congruent with genetic monogamy. No research to date has compared social and genetic monogamy in amphibians. We analysed paternity in clutches of red-backed salamanders (Plethodon cinereus), a species in which social monogamy has been demonstrated in the laboratory, and 28% of individuals in the forest are found in male-female pairs in the noncourtship season. We collected 16 clutches of eggs of P. cinereus in the southern Appalachian Mountains of Virginia and collected tail clippings from attending mothers. We genotyped embryos and adults at five microsatellite loci in order to analyse paternity of clutches. Most clutches (84.6%) had multiple sires, with two to three sires per clutch. In this study, 25% of clutches had males in addition to females attending eggs. None of the mothers of these clutches were genetically monogamous. All attending males sired some of the offspring in the clutch that they attended (between 9% and 50%) but never sired a majority in that clutch. We conclude that, at least in this population, social monogamy in P. cinereus is not concomitant with genetic monogamy.

  1. Zygotic chromosomal structural aberrations after paternal drug treatment

    PubMed Central

    Downey, Anne Marie; Robaire, Bernard

    2015-01-01

    In recent years, the field of male-mediated reproductive toxicology has received growing attention. It is now well-established that many drugs, chemicals, and environmental factors can harm male germ cells by inducing DNA damage. Male germ cells have extensive repair mechanisms that allow detection and repair of damaged DNA during the early phases of spermatogenesis. However, during the later phase of spermiogenesis, when the haploid spermatids undergo chromatin condensation and become transcriptionally quiescent, their ability to repair damaged DNA is lost.12 It is also thought that the highly compacted chromatin of the sperm can protect DNA against damage.3 Therefore, it is expected that late spermatids will be most susceptible to DNA damaging agents. Unrepaired or misrepaired damage in the germ cells leads to the generation of spermatozoa with DNA damage that can be transmitted to the next generation. Fortunately, the maternal DNA repair machinery is capable of recognizing and repairing, at least to some degree, damaged paternal DNA after fertilization in the zygote. Therefore, the efficiency of the maternal repair machinery will greatly influence the risk of transmitting paternal DNA damage to offspring.4 PMID:25999360

  2. Measuring paternal discrepancy and its public health consequences

    PubMed Central

    Bellis, M.; Hughes, K.; Hughes, S.; Ashton, J.

    2005-01-01

    Paternal discrepancy (PD) occurs when a child is identified as being biologically fathered by someone other than the man who believes he is the father. This paper examines published evidence on levels of PD and its public health consequences. Rates vary between studies from 0.8% to 30% (median 3.7%, n = 17). Using information from genetic and behavioural studies, the article identifies those who conceive younger, live in deprivation, are in long term relationships (rather than marriages), or in certain cultural groups are at higher risk. Public health consequences of PD being exposed include family break up and violence. However, leaving PD undiagnosed means cases having incorrect information on their genetics and fathers continuing to suspect that children may not be theirs. Increasing paternity testing and use of DNA techniques in clinical and judicial procedures means more cases of PD will be identified. Given developing roles for individual's genetics in decisions made by health services, private services (for example, insurance), and even in personal lifestyle decisions, the dearth of intelligence on how and when PD should be exposed urgently needs addressing. PMID:16100312

  3. The ethical debate on present day paternity testing practices.

    PubMed

    Mertens, G

    2006-01-01

    The last years, the number of paternity tests on buccal swabs sold over the internet as "test kits", has steeply increased. The commercial providers of these services facilitate controversial practices, including clandestine sampling at home, anonymous sending off for analysis, motherless testing and using "stolen" personal objects containing biological material (combs, cigarette butts). This has led to concern on the consequences on the family unit--especially the child--which may suffer emotionally, physically and financially. In reaction, legal initiatives are appearing throughout Europe. The UK Human Genetics Commission has advised that the non-consensual obtaining and analysis of personal genetic information should be a new criminal offence. The German Federal Court of Justice has ruled that paternity tests performed without the mother's knowledge are inadmissible as evidence in lawsuits. French law strictly forbids the application of DNA testing without the involvement of the court system. In Belgium, a proposal for law has been laid down where the offering to PMID:16792338

  4. Multiple paternity in a viviparous toad with internal fertilisation.

    PubMed

    Sandberger-Loua, Laura; Feldhaar, Heike; Jehle, Robert; Rödel, Mark-Oliver

    2016-08-01

    Anurans are renowned for a high diversity of reproductive modes, but less than 1 % of species exhibit internal fertilisation followed by viviparity. In the live-bearing West African Nimba toad (Nimbaphrynoides occidentalis), females produce yolk-poor eggs and internally nourish their young after fertilisation. Birth of fully developed juveniles takes place after 9 months. In the present study, we used genetic markers (eight microsatellite loci) to assign the paternity of litters of 12 females comprising on average 9.7 juveniles. In 9 out of 12 families (75 %), a single sire was sufficient; in three families (25 %), more than one sire was necessary to explain the observed genotypes in each family. These findings are backed up with field observations of male resource defence (underground cavities in which mating takes place) as well as coercive mating attempts, suggesting that the observed moderate level of multiple paternity in a species without distinct sperm storage organs is governed by a balance of female mate choice and male reproductive strategies. PMID:27262290

  5. Epigenetic inheritance and evolution: A paternal perspective on dietary influences.

    PubMed

    Soubry, Adelheid

    2015-07-01

    The earliest indications for paternally induced transgenerational effects from the environment to future generations were based on a small number of long-term epidemiological studies and some empirical observations. Only recently have experimental animal models and a few analyses on human data explored the transgenerational nature of phenotypic changes observed in offspring. Changes include multiple metabolic disorders, cancer and other chronic diseases. These phenotypes cannot always be explained by Mendelian inheritance, DNA mutations or genetic damage. Hence, a new compelling theory on epigenetic inheritance is gaining interest, providing new concepts that extend Darwin's evolutionary theory. Epigenetic alterations or "epimutations" are being considered to explain transgenerational inheritance of parentally acquired traits. The responsible mechanisms for these epimutations include DNA methylation, histone modification, and RNA-mediated effects. This review explores the literature on a number of time-dependent environmentally induced epigenetic alterations, specifically those from dietary exposures. We suggest a role for the male germ line as one of nature's tools to capture messages from our continuously changing environment and to transfer this information to subsequent generations. Further, we open the discussion that the paternally inherited epigenetic information may contribute to evolutionary adaptation.

  6. Epigenetic inheritance and evolution: A paternal perspective on dietary influences.

    PubMed

    Soubry, Adelheid

    2015-07-01

    The earliest indications for paternally induced transgenerational effects from the environment to future generations were based on a small number of long-term epidemiological studies and some empirical observations. Only recently have experimental animal models and a few analyses on human data explored the transgenerational nature of phenotypic changes observed in offspring. Changes include multiple metabolic disorders, cancer and other chronic diseases. These phenotypes cannot always be explained by Mendelian inheritance, DNA mutations or genetic damage. Hence, a new compelling theory on epigenetic inheritance is gaining interest, providing new concepts that extend Darwin's evolutionary theory. Epigenetic alterations or "epimutations" are being considered to explain transgenerational inheritance of parentally acquired traits. The responsible mechanisms for these epimutations include DNA methylation, histone modification, and RNA-mediated effects. This review explores the literature on a number of time-dependent environmentally induced epigenetic alterations, specifically those from dietary exposures. We suggest a role for the male germ line as one of nature's tools to capture messages from our continuously changing environment and to transfer this information to subsequent generations. Further, we open the discussion that the paternally inherited epigenetic information may contribute to evolutionary adaptation. PMID:25769497

  7. Multiple paternity in a viviparous toad with internal fertilisation.

    PubMed

    Sandberger-Loua, Laura; Feldhaar, Heike; Jehle, Robert; Rödel, Mark-Oliver

    2016-08-01

    Anurans are renowned for a high diversity of reproductive modes, but less than 1 % of species exhibit internal fertilisation followed by viviparity. In the live-bearing West African Nimba toad (Nimbaphrynoides occidentalis), females produce yolk-poor eggs and internally nourish their young after fertilisation. Birth of fully developed juveniles takes place after 9 months. In the present study, we used genetic markers (eight microsatellite loci) to assign the paternity of litters of 12 females comprising on average 9.7 juveniles. In 9 out of 12 families (75 %), a single sire was sufficient; in three families (25 %), more than one sire was necessary to explain the observed genotypes in each family. These findings are backed up with field observations of male resource defence (underground cavities in which mating takes place) as well as coercive mating attempts, suggesting that the observed moderate level of multiple paternity in a species without distinct sperm storage organs is governed by a balance of female mate choice and male reproductive strategies.

  8. Polyandry in dragon lizards: inbred paternal genotypes sire fewer offspring.

    PubMed

    Frère, Celine H; Chandrasoma, Dani; Whiting, Martin J

    2015-04-01

    Multiple mating in female animals is something of a paradox because it can either be risky (e.g., higher probability of disease transmission, social costs) or provide substantial fitness benefits (e.g., genetic bet hedging whereby the likelihood of reproductive failure is lowered). The genetic relatedness of parental units, particularly in lizards, has rarely been studied in the wild. Here, we examined levels of multiple paternity in Australia's largest agamid lizard, the eastern water dragon (Intellagama lesueurii), and determined whether male reproductive success is best explained by its heterozygosity coefficient or the extent to which it is related to the mother. Female polyandry was the norm: 2/22 clutches (9.2%) were sired by three or more fathers, 17/22 (77.2%) were sired by two fathers, and only 3/22 (13.6%) clutches were sired by one father. Moreover, we reconstructed the paternal genotypes for 18 known mother-offspring clutches and found no evidence that females were favoring less related males or that less related males had higher fitness. However, males with greater heterozygosity sired more offspring. While the postcopulatory mechanisms underlying this pattern are not understood, female water dragons likely represent another example of reproduction through cryptic means (sperm selection/sperm competition) in a lizard, and through which they may ameliorate the effects of male-driven precopulatory sexual selection.

  9. 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

  10. 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. PMID:27445908

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

    PubMed Central

    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. PMID:27445908

  12. The potential contribution of MVR-PCR to paternity probabilities in a case lacking a mother.

    PubMed

    Tamaki, K; Huang, X L; Mizutani, M; Yamamoto, T; Katsumata, R; Uchihi, R; Katsumata, Y; Jeffreys, A J

    1999-07-01

    Minisatellite variant repeat (MVR) mapping using the polymerase chain reaction (PCR) was applied to a paternity case lacking a mother to evaluate the paternity probability. After three flanking polymorphic sites at each of MS31A and MS32 loci were investigated from the child and alleged father, allele-specific MVR-PCR was performed using genomic DNA. It was confirmed that one allele in the child was identical to that in the alleged father at both loci. Mapped allele codes were compared with allele structures established from population surveys. No perfect matches were found although some motifs were shared with other Japanese alleles. The paternity index and probability of paternity exclusion at these two MVR loci were then estimated, establishing the power of MVR-PCR even in paternity cases lacking a mother.

  13. Longitudinal associations among fathers' perception of coparenting, partner relationship quality, and paternal stress during early childhood.

    PubMed

    Fagan, Jay; Lee, Yookyong

    2014-03-01

    This study examined the longitudinal and concurrent associations among fathers' perceptions of partner relationship quality (happiness, conflict), coparenting (shared decision making, conflict), and paternal stress. The sample consisted of 6,100 children who lived with both biological parents at 24 and 48 months in the Early Childhood Longitudinal Study-Birth Cohort data set. The results showed that there are significant and concurrent associations between fathers' perceptions of the coparenting relationship and paternal stress, and between partner relationship quality and paternal stress. There was also a positive direct longitudinal association between partner relationship conflict and paternal stress. However, we found only one longitudinal cross-system mediation effect: fathers' perception of coparenting conflict at 48 months mediated the association between partner relationship conflict at 24 months and paternal stress at 48 months. The family practice implications of these findings are discussed. PMID:24236848

  14. Degradation of paternal mitochondria by fertilization-triggered autophagy in C. elegans embryos.

    PubMed

    Sato, Miyuki; Sato, Ken

    2011-11-25

    The mitochondrial genome is believed to be maternally inherited in many eukaryotes. Sperm-derived paternal mitochondria enter the oocyte cytoplasm upon fertilization and then normally disappear during early embryogenesis. However, the mechanism responsible for this clearance has been unknown. Here, we show that autophagy, which delivers cytosolic components to lysosomes for degradation, is required for the elimination of paternal mitochondria in Caenorhabditis elegans. Immediately after fertilization, sperm-derived components trigger the localized induction of autophagy around sperm mitochondria. Autophagosomes engulf paternal mitochondria, resulting in their lysosomal degradation during early embryogenesis. In autophagy-defective zygotes, paternal mitochondria and their genome remain even in the first larval stage. Thus, fertilization-triggered autophagy is required for selective degradation of paternal mitochondria and thereby maternal inheritance of mitochondrial DNA.

  15. 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

  16. 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.

  17. Paternal retrievals increase testosterone levels in both male and female California mouse (Peromyscus californicus) offspring.

    PubMed

    Chary, Mamatha C; Cruz, Jayson P; Bardi, Massimo; Becker, Elizabeth A

    2015-07-01

    The importance of maternal care on offspring development has received considerable attention, although more recently, researchers have begun to focus on the significance of paternal contributions. In the monogamous and bi-parental California mouse, fathers provide high levels of care, and therefore serve as a model system for studying paternal effects on behavior and underlying neuroendocrine mechanisms. Paternal retrievals in this species influence long term changes in brain (expression of arginine vasopressin-AVP) and behavior (aggression and parenting) in adult male offspring. Further, paternal retrievals induce a transient increase in testosterone (T) in male offspring, which is thought to mediate the relationship between paternal retrievals and AVP expression. Although the father-son relationship has been well characterized, few studies have examined father-daughter interactions. In California mice, paternal retrievals increase aggression in female offspring. Although T has been implicated in the regulation of female aggression, it remains unclear whether T may underlie long-term changes in female offspring aggression in response to paternal retrievals. In the current study, we examined the influence of paternal retrievals on T in both male and female offspring. Retrievals were manipulated experimentally by displacement of the pup and trunk blood was collected from retrieved, non-retrieved, and non-manipulated (baseline) pups. We found that fathers expressed similar levels of retrievals towards sons and daughters, and that T levels were elevated in retrieved, as compared to non-retrieved offspring. Similar to what has been previously described in male offspring and replicated here, female offspring that were retrieved had higher T levels than non-retrieved females. Neither females nor males experienced a change in corticosterone levels in response to retrievals suggesting offspring do not mount a stress response to paternal care. Therefore, our data suggest

  18. Paternal retrievals increase testosterone levels in both male and female California mouse (Peromyscus californicus) offspring.

    PubMed

    Chary, Mamatha C; Cruz, Jayson P; Bardi, Massimo; Becker, Elizabeth A

    2015-07-01

    The importance of maternal care on offspring development has received considerable attention, although more recently, researchers have begun to focus on the significance of paternal contributions. In the monogamous and bi-parental California mouse, fathers provide high levels of care, and therefore serve as a model system for studying paternal effects on behavior and underlying neuroendocrine mechanisms. Paternal retrievals in this species influence long term changes in brain (expression of arginine vasopressin-AVP) and behavior (aggression and parenting) in adult male offspring. Further, paternal retrievals induce a transient increase in testosterone (T) in male offspring, which is thought to mediate the relationship between paternal retrievals and AVP expression. Although the father-son relationship has been well characterized, few studies have examined father-daughter interactions. In California mice, paternal retrievals increase aggression in female offspring. Although T has been implicated in the regulation of female aggression, it remains unclear whether T may underlie long-term changes in female offspring aggression in response to paternal retrievals. In the current study, we examined the influence of paternal retrievals on T in both male and female offspring. Retrievals were manipulated experimentally by displacement of the pup and trunk blood was collected from retrieved, non-retrieved, and non-manipulated (baseline) pups. We found that fathers expressed similar levels of retrievals towards sons and daughters, and that T levels were elevated in retrieved, as compared to non-retrieved offspring. Similar to what has been previously described in male offspring and replicated here, female offspring that were retrieved had higher T levels than non-retrieved females. Neither females nor males experienced a change in corticosterone levels in response to retrievals suggesting offspring do not mount a stress response to paternal care. Therefore, our data suggest

  19. 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…

  20. Parental migration and Asperger's syndrome.

    PubMed

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

    2015-08-01

    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.

  1. Paternal Incarceration and Adolescent Well-Being: Life Course Contingencies and Other Moderators

    PubMed Central

    Swisher, Raymond R.; Shaw-Smith, Unique R.

    2016-01-01

    Parental incarceration has been found to be associated with a wide range of negative outcomes in both childhood and adolescence. This Article uses data from the National Longitudinal Study of Adolescent Health (Add Health) to focus on the conditions under which associations of paternal incarceration with adolescent delinquency and depression are strongest. Paternal incarceration is most consistently and positively associated with adolescent delinquency. Associations of paternal incarceration with adolescent depression are weaker and more contingent on gender and other moderating factors. One important moderator is the respondent's retrospective reports that he or she was physically or sexually abused by a parent or other adult caregiver during childhood. For example, in the absence of sexual abuse, paternal incarceration is associated with higher depression among girls. When coupled with reports of sexual abuse, in contrast, paternal incarceration is not associated with girls' depression, suggesting a potential protective effect. The child having ever coresided with his or her father is also found to moderate associations, with paternal incarceration most strongly associated with delinquency and depression among girls who had ever coresided with their fathers. Examination of the duration and timing of paternal incarceration also pointed to gender differences. PMID:27239076

  2. Paternal lifestyle as a potential source of germline mutations transmitted to offspring.

    PubMed

    Linschooten, Joost O; Verhofstad, Nicole; Gutzkow, Kristine; Olsen, Ann-Karin; Yauk, Carole; Oligschläger, Yvonne; Brunborg, Gunnar; van Schooten, Frederik J; Godschalk, Roger W L

    2013-07-01

    Paternal exposure to high levels of radioactivity causes heritable germline minisatellite mutations. However, the effect of more general paternal exposures, such as cigarette smoking, on germline mutations remains unexplored. We analyzed two of the most commonly used minisatellite loci (CEB1 and B6.7) to identify germline mutations in blood samples of complete mother-father-child triads from the Norwegian Mother and Child Cohort Study (MoBa). The presence of mutations was subsequently related to general lifestyle factors, including paternal smoking before the partner became pregnant. Paternally derived mutations at the B6.7 locus (mutation frequency 0.07) were not affected by lifestyle. In contrast, high gross yearly income as a general measure of a healthy lifestyle coincided with low-mutation frequencies at the CEB1 locus (P=0.047). Income was inversely related to smoking behavior, and paternally derived CEB1 mutations were dose dependently increased when the father smoked in the 6 mo before pregnancy, 0.21 vs. 0.05 in smoking and nonsmoking fathers, respectively (P=0.061). These results suggest that paternal lifestyle can affect the chance of heritable mutations in unstable repetitive DNA sequences. To our knowledge, this is the first study reporting an effect of lifestyle on germline minisatellite mutation frequencies in a human population with moderate paternal exposures. PMID:23538710

  3. Paternal phylogeography and genetic diversity of East Asian goats.

    PubMed

    Waki, A; Sasazaki, S; Kobayashi, E; Mannen, H

    2015-06-01

    This study was a first analysis of paternal genetic diversity for extensive Asian domestic goats using SRY gene sequences. Sequencing comparison of the SRY 3'-untranslated region among 210 Asian goats revealed four haplotypes (Y1A, Y1B, Y2A and Y2B) derived from four variable sites including a novel substitution detected in this study. In Asian goats, the predominant haplotype was Y1A (62%) and second most common was Y2B (30%). Interestingly, the Y2B was a unique East Asian Y chromosomal variant, which differentiates eastern and western Eurasian goats. The SRY geographic distribution in Myanmar and Cambodia indicated predominant the haplotype Y1A in plains areas and a high frequency of Y2B in mountain areas. The results suggest recent genetic infiltration of modern breeds into South-East Asian goats and an ancestral SRY Y2B haplotype in Asian native goats. PMID:25917305

  4. Exploring the impact of paternal imprisonment on infant mental health.

    PubMed

    Waldegrave, Kathryn; Woodall, James

    2015-06-01

    This paper draws from a study, which explored paternal absence through imprisonment and the impact of this on infant emotional wellbeing and mental health. Little evidence exists to demonstrate the impact of a father's imprisonment on infant involvement, attachment relationships and the consequences of such separation for both infant and father. A scoping study, synthesising literature gathered from a range of academic sources, allowed for exploration of key concepts and clarification of pertinent themes in this relatively under-studied area. Findings suggest that maintaining father involvement while in prison is vital in promoting and maintaining positive infant mental health and that the health visitor is well placed to play a pivotal role in supporting the families of those within the criminal justice system. PMID:26373006

  5. Australian Fathers’ Study: What Influences Paternal Engagement With Antenatal Care?

    PubMed Central

    Jeffery, Timothy; Luo, Ki-Yung; Kueh, Brandon; Petersen, Rodney W.; Quinlivan, Julie A.

    2015-01-01

    ABSTRACT This mixed-methods study explores factors associated with and levels of engagement of fathers in antenatal care. One hundred expectant fathers were recruited from antenatal clinics and community settings in Western Australia. They completed validated questionnaires. Eighty-three percent of expectant fathers reported a lack of engagement with antenatal care. Factors significantly associated with lack of engagement in multivariate analysis were working more than 40 hours a week and lack of adequate consultation by antenatal care staff. In qualitative analysis, 6 themes emerged in association with a lack of engagement. They were role in decision making, time pressures, the observer effect, lack of knowledge, barriers to attendance, and feeling unprepared or anxious. Care providers should involve fathers in consultations to improve paternal engagement. PMID:26834439

  6. Autonomy, Paternalism, and Justice: Ethical Priorities in Public Health

    PubMed Central

    Buchanan, David R.

    2008-01-01

    With attention to the field of public health ethics growing, significant time has been devoted to identifying a sound ethical justification for paternalistic interventions that override individual autonomy to prevent people from adopting unhealthy behaviors. Efforts focused on specifying the conditions that warrant paternalism, however, are largely misplaced. On empirical and ethical grounds, public health should seek instead to expand individual autonomy to improve population health. To promote autonomy, the field should redirect current efforts toward clarifying principles of justice. Although public health’s most highly visible stance is associated with an egalitarian conception of “social justice,” it is imperative that public health professionals address gaping divisions in public understandings of justice. I present recommendations for initiating this process. PMID:18048780

  7. Microsatellite analysis of paternity and reproduction in Arctic grizzly bears.

    PubMed

    Craighead, L; Paetkau, D; Reynolds, H V; Vyse, E R; Strobeck, C

    1995-01-01

    We report data from analyses of microsatellite loci of 30 grizzly bear family groups which demonstrate that each cub in a litter can be sired independently, and we derive estimates of maximum reproductive success for males, from an Arctic population in northwestern Alaska that is minimally affected by human activities. These analyses were made possible by the use of single-locus primers that amplified both of an individual's alleles at eight microsatellite loci and by detailed knowledge of maternal/offspring relationships that allowed the identification of paternal alleles. No single male was responsible for more than approximately 11% of known offspring, and no more than 49% of breeding-age males successfully bred. These data contribute to an understanding of the genetic and demographic basis of male reproductive success, which is of vital importance in the maintenance of small, isolated grizzly bear populations.

  8. Paternal phylogeography and genetic diversity of East Asian goats.

    PubMed

    Waki, A; Sasazaki, S; Kobayashi, E; Mannen, H

    2015-06-01

    This study was a first analysis of paternal genetic diversity for extensive Asian domestic goats using SRY gene sequences. Sequencing comparison of the SRY 3'-untranslated region among 210 Asian goats revealed four haplotypes (Y1A, Y1B, Y2A and Y2B) derived from four variable sites including a novel substitution detected in this study. In Asian goats, the predominant haplotype was Y1A (62%) and second most common was Y2B (30%). Interestingly, the Y2B was a unique East Asian Y chromosomal variant, which differentiates eastern and western Eurasian goats. The SRY geographic distribution in Myanmar and Cambodia indicated predominant the haplotype Y1A in plains areas and a high frequency of Y2B in mountain areas. The results suggest recent genetic infiltration of modern breeds into South-East Asian goats and an ancestral SRY Y2B haplotype in Asian native goats.

  9. Risk for childhood leukemia associated with maternal and paternal age.

    PubMed

    Sergentanis, Theodoros N; Thomopoulos, Thomas P; Gialamas, Spyros P; Karalexi, Maria A; Biniaris-Georgallis, Stylianos-Iason; Kontogeorgi, Evangelia; Papathoma, Paraskevi; Tsilimidos, Gerasimos; Skalkidou, Alkistis; Iliadou, Anastasia N; Petridou, Eleni T

    2015-12-01

    The role of reproductive factors, such as parental age, in the pathogenesis of childhood leukemias is being intensively examined; the results of individual studies are controversial. This meta-analysis aims to quantitatively synthesize the published data on the association between parental age and risk of two major distinct childhood leukemia types in the offspring. Eligible studies were identified and pooled relative risk (RR) estimates were calculated using random-effects models, separately for childhood acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Subgroup analyses were performed by study design, geographical region, adjustment factors; sensitivity analyses and meta-regression analyses were also undertaken. 77 studies (69 case-control and eight cohort) were deemed eligible. Older maternal and paternal age were associated with increased risk for childhood ALL (pooled RR = 1.05, 95 % CI 1.01-1.10; pooled RR = 1.04, 95 % CI 1.00-1.08, per 5 year increments, respectively). The association between maternal age and risk of childhood AML showed a U-shaped pattern, with symmetrically associated increased risk in the oldest (pooled RR = 1.23, 95 % CI 1.06-1.43) and the youngest (pooled RR = 1.23, 95 % CI 1.07-1.40) extremes. Lastly, only younger fathers were at increased risk of having a child with AML (pooled RR = 1.28, 95 % CI 1.04-1.59). In conclusion, maternal and paternal age represents a meaningful risk factor for childhood leukemia, albeit of different effect size by leukemia subtype. Genetic and socio-economic factors may underlie the observed associations. Well-adjusted studies, scheduled by large consortia, are anticipated to satisfactorily address methodological issues, whereas the potential underlying genetic mechanisms should be elucidated by basic research studies.

  10. Paternalism and factitious disorder: medical treatment in illness deception.

    PubMed

    Fry, Anthony; Gergel, Tania L

    2016-08-01

    The primary aims are to consider whether a range of paternalistic medical interventions can be justified in the treatment of factitious disorder (FD) and to show that the particularities of FD and its management make it an ideal phenomenon to highlight the difficulties of balancing respect for self-determination, responsibility and duty of care in psychiatry. FD is usually classified as a mental disorder involving deliberate and hidden feigning or inducement of illness, in order to achieve patient status. Both the nature of the disorder and the approach to treatment are controversial and under-researched. It is argued that FD should be classified as a mental disorder; may well expose the patient to extreme risk; can warrant paternalistic interventions, in order to fulfil duty of care. Moreover, treatment of FD is inherently paternalistic and therefore raises interesting questions about justifications and type of paternalistic interventions in psychiatry both for FD and in general. A brief account of key questions concerning psychiatry and paternalism is followed by some case histories of FD, the clinical dilemmas posed and the question of how this disorder might warrant paternalistic interventions. In order to answer this question, two things are considered: the legitimacy and character of FD as a mental disorder; possible frameworks for and types of paternalistic interventions. To conclude, it is argued that there are no compelling reasons for rejecting the use of paternalistic interventions for FD, but that further investigation of FD and type and frameworks for psychiatric paternalism, in relation to FD and other mental disorders, are urgently needed. PMID:26063587

  11. Human paternal lineages, languages, and environment in the Caucasus.

    PubMed

    Tarkhnishvili, David; Gavashelishvili, Alexander; Murtskhvaladze, Marine; Gabelaia, Mariam; Tevzadze, Gigi

    2014-01-01

    Publications that describe the composition of the human Y-DNA haplogroup in diffferent ethnic or linguistic groups and geographic regions provide no explicit explanation of the distribution of human paternal lineages in relation to specific ecological conditions. Our research attempts to address this topic for the Caucasus, a geographic region that encompasses a relatively small area but harbors high linguistic, ethnic, and Y-DNA haplogroup diversity. We genotyped 224 men that identified themselves as ethnic Georgian for 23 Y-chromosome short tandem-repeat markers and assigned them to their geographic places of origin. The genotyped data were supplemented with published data on haplogroup composition and location of other ethnic groups of the Caucasus. We used multivariate statistical methods to see if linguistics, climate, and landscape accounted for geographical diffferences in frequencies of the Y-DNA haplogroups G2, R1a, R1b, J1, and J2. The analysis showed significant associations of (1) G2 with wellforested mountains, (2) J2 with warm areas or poorly forested mountains, and (3) J1 with poorly forested mountains. R1b showed no association with environment. Haplogroups J1 and R1a were significantly associated with Daghestanian and Kipchak speakers, respectively, but the other haplogroups showed no such simple associations with languages. Climate and landscape in the context of competition over productive areas among diffferent paternal lineages, arriving in the Caucasus in diffferent times, have played an important role in shaping the present-day spatial distribution of patrilineages in the Caucasus. This spatial pattern had formed before linguistic subdivisions were finally shaped, probably in the Neolithic to Bronze Age. Later historical turmoil had little influence on the patrilineage composition and spatial distribution. Based on our results, the scenario of postglacial expansions of humans and their languages to the Caucasus from the Middle East, western

  12. Trans-generational parasite protection associated with paternal diet.

    PubMed

    Sternberg, Eleanore D; de Roode, Jacobus C; Hunter, Mark D

    2015-01-01

    Multiple generations of hosts are often exposed to the same pathogens, favouring the evolution of trans-generational defences. Because females have more opportunities to transfer protective molecules to offspring, many studies have focused on maternally derived protection. However, males of many species can transfer compounds along with sperm, including chemicals that could provide protection. Here, we assess maternally and paternally derived protection in a monarch butterfly-protozoan parasite system where parasite resistance is heavily influenced by secondary plant chemicals, known as cardenolides, present in the larval diet of milkweed plants. We reared monarch butterflies on medicinal and non-medicinal milkweed species and then measured resistance of their offspring to infection. We also measured cardenolide content in adult monarchs reared on the two species, and in the eggs that they produced. We found that offspring were more resistant to infection when their fathers were reared on medicinal milkweed, while maternal diet had less of an effect. We also found that eggs contained the highest levels of cardenolides when both parents were reared on the medicinal species. Moreover, females reared on non-medicinal milkweed produced eggs with significantly higher levels of cardenolides if they mated with males reared on the medicinal milkweed species. However, we found an equivocal relationship between the cardenolides present in eggs and parasite resistance in the offspring. Our results demonstrate that males reared on medicinal plants can transfer protection to their offspring, but the exact mechanism remains unresolved. This suggests that paternal protection from parasitism might be important, particularly when there are environmental sources of parasite resistance and when males transfer spermatophores during mating. PMID:25251734

  13. Human paternal lineages, languages, and environment in the Caucasus.

    PubMed

    Tarkhnishvili, David; Gavashelishvili, Alexander; Murtskhvaladze, Marine; Gabelaia, Mariam; Tevzadze, Gigi

    2014-01-01

    Publications that describe the composition of the human Y-DNA haplogroup in diffferent ethnic or linguistic groups and geographic regions provide no explicit explanation of the distribution of human paternal lineages in relation to specific ecological conditions. Our research attempts to address this topic for the Caucasus, a geographic region that encompasses a relatively small area but harbors high linguistic, ethnic, and Y-DNA haplogroup diversity. We genotyped 224 men that identified themselves as ethnic Georgian for 23 Y-chromosome short tandem-repeat markers and assigned them to their geographic places of origin. The genotyped data were supplemented with published data on haplogroup composition and location of other ethnic groups of the Caucasus. We used multivariate statistical methods to see if linguistics, climate, and landscape accounted for geographical diffferences in frequencies of the Y-DNA haplogroups G2, R1a, R1b, J1, and J2. The analysis showed significant associations of (1) G2 with wellforested mountains, (2) J2 with warm areas or poorly forested mountains, and (3) J1 with poorly forested mountains. R1b showed no association with environment. Haplogroups J1 and R1a were significantly associated with Daghestanian and Kipchak speakers, respectively, but the other haplogroups showed no such simple associations with languages. Climate and landscape in the context of competition over productive areas among diffferent paternal lineages, arriving in the Caucasus in diffferent times, have played an important role in shaping the present-day spatial distribution of patrilineages in the Caucasus. This spatial pattern had formed before linguistic subdivisions were finally shaped, probably in the Neolithic to Bronze Age. Later historical turmoil had little influence on the patrilineage composition and spatial distribution. Based on our results, the scenario of postglacial expansions of humans and their languages to the Caucasus from the Middle East, western

  14. 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.

  15. Patterns of paternity skew among polyandrous social insects: what can they tell us about the potential for sexual selection?

    PubMed

    Jaffé, Rodolfo; Garcia-Gonzalez, Francisco; den Boer, Susanne P A; Simmons, Leigh W; Baer, Boris

    2012-12-01

    Monogamy results in high genetic relatedness among offspring and thus it is generally assumed to be favored by kin selection. Female multiple mating (polyandry) has nevertheless evolved several times in the social Hymenoptera (ants, bees, and wasps), and a substantial amount of work has been conducted to understand its costs and benefits. Relatedness and inclusive fitness benefits are, however, not only influenced by queen mating frequency but also by paternity skew, which is a quantitative measure of paternity biases among the offspring of polyandrous females. We performed a large-scale phylogenetic analysis of paternity skew across polyandrous social Hymenoptera. We found a general and significant negative association between paternity frequency and paternity skew. High paternity skew, which increases relatedness among colony members and thus maximizes inclusive fitness gains, characterized species with low paternity frequency. However, species with highly polyandrous queens had low paternity skew, with paternity equalized among potential sires. Equal paternity shares among fathers are expected to maximize fitness benefits derived from genetic diversity among offspring. We discuss the potential for postcopulatory sexual selection to influence patterns of paternity in social insects, and suggest that sexual selection may have played a key, yet overlooked role in social evolution.

  16. Wild female baboons bias their social behaviour towards paternal half-sisters.

    PubMed Central

    Smith, Kerri; Alberts, Susan C; Altmann, Jeanne

    2003-01-01

    Adult female cercopithecines have long been known to bias their social behaviour towards close maternal kin. However, much less is understood about the behaviour of paternal kin, especially in wild populations. Here, we show that wild adult female baboons bias their affiliative behaviour towards their adult paternal half-sisters in the same manner and to the same extent that they bias their behaviour towards adult maternal half-sisters. Females appear to rely heavily on social familiarity as a means of biasing their behaviour towards paternal half-sisters, but may use phenotype matching as well. PMID:12641905

  17. Microsatellites indicate a high frequency of multiple paternity in Apodemus (Rodentia).

    PubMed

    Baker, R J; Makova, K D; Chesser, R K

    1999-01-01

    Microsatellites were employed to estimate frequency of multiple paternity litters of two species of mice (genus Apodemus): striped field mouse (A. agrarius), and wood mouse (A. sylvaticus). Ten pregnant females of A. agrarius and six of A. sylvaticus were collected from natural populations in the northern Ukraine and analysed with 11 and nine microsatellite loci, respectively. Multiple paternity was indicated in eight of 10 litters in A. agrarius and in three of six litters in A. sylvaticus. Multiple paternity was documented at several loci (ranging from two to 10). In two cases (A. agrarius), three males were estimated to have fathered the litter. PMID:12187947

  18. Evaluation of the paternity probability on an application of minisatellite variant repeat mapping using polymerase chain reaction (MVR-PCR) to paternity testing.

    PubMed

    Huang, X L; Tamaki, K; Yamamoto, T; Yoshimoto, T; Mizutani, M; Leong, Y K; Tanaka, M; Nozawa, H; Uchihi, R; Katsumata, Y

    1999-09-01

    Minisatellite variant repeat (MVR) mapping using polymerase chain reaction (PCR) was applied to a practical case of paternity testing to evaluate the paternity probability. In order to obtain single allele mapping by allele-specific MVR-PCR, three flanking polymorphic sites for each of the MS31A and MS32 loci were investigated and all three individuals were typed as heterozygous for at least one flanking polymorphic site at each locus. Allele-specific MVR-PCR was then performed using genomic DNA. It was confirmed that one allele in the child was identical to that from the mother and the other one in the child was identical to that from the alleged father. Mapped allele codes were also compared with those in the database by dot-matrix analysis, and no identical allele was found although some motifs were shared with Japanese alleles. The paternity index and the probability of paternity exclusion in the case at these two MVR loci were calculated using the presumed values of the allele frequencies. These studies seem to illustrate the practical value of MVR mapping of MS31A and MS32 loci in paternity testing.

  19. Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7

    PubMed Central

    Hannula-Jouppi, Katariina; Muurinen, Mari; Lipsanen-Nyman, Marita; Reinius, Lovisa E; Ezer, Sini; Greco, Dario; Kere, Juha

    2014-01-01

    DNA methylation is a hallmark of genomic imprinting and differentially methylated regions (DMRs) are found near and in imprinted genes. Imprinted genes are expressed only from the maternal or paternal allele and their normal balance can be disrupted by uniparental disomy (UPD), the inheritance of both chromosomes of a chromosome pair exclusively from only either the mother or the father. Maternal UPD for chromosome 7 (matUPD7) results in Silver-Russell syndrome (SRS) with typical features and growth retardation, but no gene has been conclusively implicated in SRS. In order to identify novel DMRs and putative imprinted genes on chromosome 7, we analyzed eight matUPD7 patients, a segmental matUPD7q31-qter, a rare patUPD7 case and ten controls on the Infinium HumanMethylation450K BeadChip with 30 017 CpG methylation probes for chromosome 7. Genome-scale analysis showed highly significant clustering of DMRs only on chromosome 7, including the known imprinted loci GRB10, SGCE/PEG10, and PEG/MEST. We found ten novel DMRs on chromosome 7, two DMRs for the predicted imprinted genes HOXA4 and GLI3 and one for the disputed imprinted gene PON1. Quantitative RT-PCR on blood RNA samples comparing matUPD7, patUPD7, and controls showed differential expression for three genes with novel DMRs, HOXA4, GLI3, and SVOPL. Allele specific expression analysis confirmed maternal only expression of SVOPL and imprinting of HOXA4 was supported by monoallelic expression. These results present the first comprehensive map of parent-of-origin specific DMRs on human chromosome 7, suggesting many new imprinted sites. PMID:24247273

  20. 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.

  1. Biparental Care in Insects: Paternal Care, Life History, and the Function of the Nest

    PubMed Central

    Suzuki, Seizi

    2013-01-01

    The evolution of parental care is a complex process, and many evolutionary pathways have been hypothesized. Maternal care is common, but paternal care is not. High confidence of paternity should favor the evolution of paternal attendance in caring for young; biparental care is rare because paternity assurance is typically low compared to maternity. Biparental care in insects has evolved several times and has high diversity. To evaluate the conditions for the evolution of biparental care, a comparison across taxa is suitable. In this review, common traits of biparental species are discussed in order to evaluate previous models of biparental care and the life history of insects. It will be shown that nesting is a common feature in biparental insects. Nest structure limits extra-pair copulations, contributing to the evolution of biparental care. PMID:24766389

  2. 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. PMID:25045174

  3. Male dominance, paternity, and relatedness in the Jamaican fruit-eating bat (Artibeus jamaicensis).

    PubMed

    Ortega, Jorge; Maldonado, Jesús E; Wilkinson, Gerald S; Arita, Héctor T; Fleischer, Robert C

    2003-09-01

    We analysed variation at 14 nuclear microsatellite loci to assess the genetic structure, relatedness, and paternity of polygynous Jamaican fruit-eating bats. A total of 84 adults captured in two caves exhibited little genetic differentiation between caves (FST = 0.008). Average relatedness among adult females in 10 harem groups was very low (R = 0.014 +/- 0.011), providing no evidence of harem structure. Dominant and subordinate males shared paternity in large groups, while dominant and satellite males shared paternity in smaller groups. However, our results suggest that male rank influences paternity. Dominant males fathered 69% of 40 offspring, followed by satellite (22%) and subordinate males (9%). Overall adult male bats are not closely related, however, in large harem groups we found that subordinate and dominant males exhibited relatedness values consistent with a father-offspring relationship. Because dominant and subordinate males also sired all the pups in large groups, we propose that their association provides inclusive fitness to them.

  4. 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. PMID:24431278

  5. Paternity and Nested-within-Family Marker Assisted Selection in Space Planted Red Clover Nurseries

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Presented is a cost effective marker assisted selection methodology that utilizes individual plant phenotypes, seed production based knowledge of maternity, molecular marker determined paternity, and nested within halfsib family linkage relationships. Combining all above listed components, selection...

  6. 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.

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

    PubMed Central

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

    2014-01-01

    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. PMID:24431278

  8. Angelman syndrome imprinting center encodes a transcriptional promoter

    PubMed Central

    Lewis, Michael W.; Brant, Jason O.; Kramer, Joseph M.; Moss, James I.; Yang, Thomas P.; Hansen, Peter J.; Williams, R. Stan; Resnick, James L.

    2015-01-01

    Clusters of imprinted genes are often controlled by an imprinting center that is necessary for allele-specific gene expression and to reprogram parent-of-origin information between generations. An imprinted domain at 15q11–q13 is responsible for both Angelman syndrome (AS) and Prader–Willi syndrome (PWS), two clinically distinct neurodevelopmental disorders. Angelman syndrome arises from the lack of maternal contribution from the locus, whereas Prader–Willi syndrome results from the absence of paternally expressed genes. In some rare cases of PWS and AS, small deletions may lead to incorrect parent-of-origin allele identity. DNA sequences common to these deletions define a bipartite imprinting center for the AS–PWS locus. The PWS–smallest region of deletion overlap (SRO) element of the imprinting center activates expression of genes from the paternal allele. The AS–SRO element generates maternal allele identity by epigenetically inactivating the PWS–SRO in oocytes so that paternal genes are silenced on the future maternal allele. Here we have investigated functional activities of the AS–SRO, the element necessary for maternal allele identity. We find that, in humans, the AS–SRO is an oocyte-specific promoter that generates transcripts that transit the PWS–SRO. Similar upstream promoters were detected in bovine oocytes. This result is consistent with a model in which imprinting centers become DNA methylated and acquire maternal allele identity in oocytes in response to transiting transcription. PMID:25378697

  9. Angelman syndrome imprinting center encodes a transcriptional promoter.

    PubMed

    Lewis, Michael W; Brant, Jason O; Kramer, Joseph M; Moss, James I; Yang, Thomas P; Hansen, Peter J; Williams, R Stan; Resnick, James L

    2015-06-01

    Clusters of imprinted genes are often controlled by an imprinting center that is necessary for allele-specific gene expression and to reprogram parent-of-origin information between generations. An imprinted domain at 15q11-q13 is responsible for both Angelman syndrome (AS) and Prader-Willi syndrome (PWS), two clinically distinct neurodevelopmental disorders. Angelman syndrome arises from the lack of maternal contribution from the locus, whereas Prader-Willi syndrome results from the absence of paternally expressed genes. In some rare cases of PWS and AS, small deletions may lead to incorrect parent-of-origin allele identity. DNA sequences common to these deletions define a bipartite imprinting center for the AS-PWS locus. The PWS-smallest region of deletion overlap (SRO) element of the imprinting center activates expression of genes from the paternal allele. The AS-SRO element generates maternal allele identity by epigenetically inactivating the PWS-SRO in oocytes so that paternal genes are silenced on the future maternal allele. Here we have investigated functional activities of the AS-SRO, the element necessary for maternal allele identity. We find that, in humans, the AS-SRO is an oocyte-specific promoter that generates transcripts that transit the PWS-SRO. Similar upstream promoters were detected in bovine oocytes. This result is consistent with a model in which imprinting centers become DNA methylated and acquire maternal allele identity in oocytes in response to transiting transcription. PMID:25378697

  10. Early bi-parental separation or neonatal paternal deprivation in mandarin voles reduces adult offspring paternal behavior and alters serum corticosterone levels and neurochemistry.

    PubMed

    Yu, Peng; Zhang, Hui; Li, Xibo; He, Fengqin; Tai, Fadao

    2015-07-01

    Although the effect of early social environments on maternal care in adulthood has been examined in detail, few studies have addressed the long-term effect on paternal care and its underlying neuroendocrine mechanisms. Here, using monogamous mandarin voles (Microtus mandarinus) that show high levels of paternal care, the effects of early bi-parental separation (EBPS) or neonatal paternal deprivation (NPD) on adult paternal behavior, serum corticosterone levels, and receptor mRNA expression in the nucleus accumbens (NAcc) and medial preoptic area (MPOA) were investigated. Compared to the parental care group (PC), we found that EBPS reduced crouching behavior and increased inactivity, self-grooming, and serum corticosterone levels in adult offspring; and NPD significantly reduced retrieval behavior and increased self-grooming behavior of offspring at adulthood. EBPS displayed more dopamine type I receptor (D1R) mRNA expression in the NAcc, but less oxytocin receptor (OTR) mRNA expression than PC in the MPOA. Both EBPS and NPD exhibited more mRNA expression of estrogen receptor alpha (ERα) than PC in the MPOA. In the EBPS group, increased serum corticosterone concentration was closely associated with reduced crouching behavior, and reduced expression of OTR was closely associated with altered crouching behavior and increased D1R expression. Our results provide substantial evidence that EBPS or NPD has long-term consequences and reduces paternal behavior in adult animals. Importantly the oxytocin system in the MPOA might interact with NAcc dopamine systems to regulate paternal behavior and EBPS may affect interactions between the MPOA and NAcc.

  11. Microsatellite Evidence for High Frequency of Multiple Paternity in the Marine Gastropod Rapana venosa

    PubMed Central

    Liu, Jin-Xian

    2014-01-01

    Background Inferring of parentage in natural populations is important in understanding the mating systems of a species, which have great effects on its genetic structure and evolution. Muricidae, a large group (approximately 1,600 species) of marine gastropods, are poorly investigated in patterns of multiple paternity and sperm competition based on molecular techniques. The veined Rapa whelk, Rapana venosa, a commercially important muricid species with internal fertilization, is an ideal species to study the occurrence and frequency of multiple paternity and to facilitate understanding of their reproductive strategies. Methodology/Principal Findings We developed five highly polymorphic microsatellites in R. venosa and applied them to identify multiple paternity in 19 broods (1381 embryos) collected from Dandong, China. Multiple paternity was detected in 17 (89.5%) of 19 broods. The number of sires per brood ranged from 1 to 7 (4.3 on average). Of the 17 multiply sired broods, 16 (94.1%) were significantly skewed from equal paternal contributions, and had a dominant sire which was also dominant in each assayed capsule. Conclusions Our results indicate that a high level of multiple paternity occurs in the wild population of R. venosa. Similar patterns of multiple paternity in the 2–6 assayed capsules from each brood imply that fertilization events within the body of a female occur mostly (but not entirely) as random draws from a “well-but-not-perfectly blended sperm pool” of her several mates. Strongly skewed distributions of fertilization success among sires also suggest that sperm competition and/or cryptic female choice might be important for post-copulatory paternity biasing in this species. PMID:24466127

  12. Superfecundation and dual paternity in a twin pregnancy ending with placental abruption.

    PubMed

    Ambach, E; Parson, W; Brezinka, C

    2000-01-01

    A case of superfecundation and dual paternity in a twin pregnancy is presented. Placental abruption developed at week 33 of gestation and the two boys had to be saved by emergency cesarean section. As they shared one placenta, had almost identical weight and had the same sex, they were assumed to be monozygotic. However, a subsequent paternity suit led to the conclusion, based on DNA-analysis, that the twin brothers had been fathered by two different men. Obstetrical implications are discussed.

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

    PubMed

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

    2013-03-01

    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 and mating effort but not with a negative association between T and paternal care; in male baboons, high levels of T occur in males that are differentially associating with their offspring.

  14. Effect of Paternal Age on Reproductive Outcomes of In Vitro Fertilization.

    PubMed

    Wu, Yixuan; Kang, Xiangjin; 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.

  15. Paternal lifestyle as a potential source of germline mutations transmitted to offspring

    PubMed Central

    Linschooten, Joost O.; Verhofstad, Nicole; Gutzkow, Kristine; Olsen, Ann-Karin; Yauk, Carole; Oligschläger, Yvonne; Brunborg, Gunnar; van Schooten, Frederik J.; Godschalk, Roger W. L.

    2013-01-01

    Paternal exposure to high levels of radioactivity causes heritable germline minisatellite mutations. However, the effect of more general paternal exposures, such as cigarette smoking, on germline mutations remains unexplored. We analyzed two of the most commonly used minisatellite loci (CEB1 and B6.7) to identify germline mutations in blood samples of complete mother–father–child triads from the Norwegian Mother and Child Cohort Study (MoBa). The presence of mutations was subsequently related to general lifestyle factors, including paternal smoking before the partner became pregnant. Paternally derived mutations at the B6.7 locus (mutation frequency 0.07) were not affected by lifestyle. In contrast, high gross yearly income as a general measure of a healthy lifestyle coincided with low-mutation frequencies at the CEB1 locus (P=0.047). Income was inversely related to smoking behavior, and paternally derived CEB1 mutations were dose dependently increased when the father smoked in the 6 mo before pregnancy, 0.21 vs. 0.05 in smoking and nonsmoking fathers, respectively (P=0.061). These results suggest that paternal lifestyle can affect the chance of heritable mutations in unstable repetitive DNA sequences. To our knowledge, this is the first study reporting an effect of lifestyle on germline minisatellite mutation frequencies in a human population with moderate paternal exposures.—Linschooten, J. O., Verhofstad, N., Gutzkow, K., Olsen, A.-K., Yauk, C., Oligschläger, Y., Brunborg, G., van Schooten, F. J., Godschalk, R. W. L. Paternal lifestyle as a potential source of germline mutations transmitted to offspring. PMID:23538710

  16. 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

  17. 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.

  18. 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…

  19. 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…

  20. 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…

  1. 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…

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

    PubMed Central

    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. PMID:27631491

  3. De novo DNA methylation of the paternal genome in 2-cell mouse embryos.

    PubMed

    Ma, X S; Wang, X G; Qin, L; Song, C L; Lin, F; Song, J M; Zhu, C C; Liu, H L

    2014-10-27

    The developmental dynamics of DNA methylation events have been well studied. Active demethylation of the paternal genome occurs in the zygote, passive demethylation occurs during cleavage stages, and de novo methylation occurs by the blastocyst stage. It is believed that the paternal genome has lower levels of methylation during early development than the maternal genome. However, in this study, we provide direct and indirect evidence of genome-wide de novo DNA methylation of the paternal genome after the first cell cycle in mouse embryos. Although very little methylation was detected within the male pronucleus in zygotes, an intense methylation signal was clearly visible within the androgenetic 2-cell embryos. Moreover, the DNA methylation level of the paternal genome in the post-zygotic metaphase embryos was similar to that of the maternal genome. Using indirect immunofluorescence with an antibody to methylated lysine 9 in histone H3, we provided new evidence to support the concept of spatial compartmentalization of parental genomes in 2-cell mouse embryos. Nevertheless, the transient segregation of parental genomes was not observed by determining the DNA methylation distribution in the 2-cell embryos even though DNA methylation asymmetry between the maternal and paternal pronucleus existed in the 1-cell stage. The disappearance of separate immunofluorescence signals of 5-methyl cytosine in the 2-cell embryos might be attributed to the de novo methylation of the paternal genome during the first mitotic cycle.

  4. 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

  5. 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.

  6. Paternal effects in Arabidopsis indicate that offspring can influence their own size

    PubMed Central

    House, Clarissa; Roth, Charlotte; Hunt, John; Kover, Paula X.

    2010-01-01

    The existence of genetic variation in offspring size in plants and animals is puzzling because offspring size is often strongly associated with fitness and expected to be under stabilizing selection. An explanation for variation in seed size is conflict between parents and between parents and offspring. However, for this hypothesis to be true, it must be shown that the offspring genotype can affect its own size. The existence of paternal effects would support this hypothesis, but these have rarely been shown. Using a diallel cross among four natural accessions of Arabidopsis thaliana we show that maternal, paternal and positional effects jointly influence seed size, number and the frequency of seed abortion. We found that seed abortion (%) depends on the combination of maternal and paternal genotypes, suggesting the existence of mate choice or epistatic incompatibility among accessions of A. thaliana. In addition, since paternal genotype explains approximately 10 per cent of the variation in seed size, we propose that A. thaliana's offspring must influence the amount of resources allocated to themselves. Identification of paternal effects in Arabidopsis should facilitate dissection of the genetic mechanisms involved in paternal effects. PMID:20444721

  7. Paternal Smoking and Risk of Childhood Acute Lymphoblastic Leukemia: Systematic Review and Meta-Analysis

    PubMed Central

    Liu, Ruiling; Zhang, Luoping; McHale, Cliona M.; Hammond, S. Katharine

    2011-01-01

    Objective. To investigate the association between paternal smoking and childhood acute lymphoblastic leukemia (ALL). Method. We identified 18 published epidemiologic studies that reported data on both paternal smoking and childhood ALL risk. We performed a meta-analysis and analyzed dose-response relationships on ALL risk for smoking during preconception, during pregnancy, after birth, and ever smoking. Results. The summary odds ratio (OR) of childhood ALL associated with paternal smoking was 1.11 (95% Confidence Interval (CI): 1.05–1.18, I2 = 18%) during any time period, 1.25 (95% CI: 1.08–1.46, I2 = 53%) preconception; 1.24 (95% CI: 1.07–1.43, I2 = 54%) during pregnancy, and 1.24 (95% CI: 0.96–1.60, I2 = 64%) after birth, with a dose-response relationship between childhood ALL and paternal smoking preconception or after birth. Conclusion. The evidence supports a positive association between childhood ALL and paternal ever smoking and at each exposure time period examined. Future epidemiologic studies should assess paternal smoking during well-defined exposure windows and should include biomarkers to assess smoking exposure and toxicological mechanisms. PMID:21765828

  8. Implications of advancing paternal age: does it affect offspring school performance?

    PubMed

    Svensson, Anna C; Abel, Kathryn; Dalman, Christina; Magnusson, Cecilia

    2011-01-01

    Average paternal age is increasing in many high income countries, but the implications of this demographic shift for child health and welfare are poorly understood. There is equivocal evidence that children of older fathers are at increased risk of neurodevelopmental disorders and reduced IQ. We therefore report here on the relationship between paternal age and a composite indicator of scholastic achievement during adolescence, i.e. compulsory school leaving grades, among recent birth cohorts in Stockholm County where delayed paternity is notably common. We performed a record-linkage study comprising all individuals in Stockholm County who finished 9 years of compulsory school from 2000 through 2007 (n = 155,875). Data on school leaving grades and parental characteristics were retrieved from administrative and health service registers and analyzed using multiple linear regression. Advancing paternal age at birth was not associated with a decrease in school leaving grades in adolescent offspring. After adjustment for year of graduation, maternal age and parental education, country of birth and parental mental health service use, offspring of fathers aged 50 years or older had on average 0.3 (95% CI -3.8, 4.4) points higher grades than those of fathers aged 30-34 years. In conclusion, advancing paternal age is not associated with poorer school performance in adolescence. Adverse effects of delayed paternity on offspring cognitive function, if any, may be counterbalanced by other potential advantages for children born to older fathers.

  9. Maternal inheritance of mitochondrial DNA by diverse mechanisms to eliminate paternal mitochondrial DNA.

    PubMed

    Sato, Miyuki; Sato, Ken

    2013-08-01

    The mitochondrion is an organelle that has its own DNA (mtDNA). Mitochondria play essential roles in energy production and in various cellular processes such as metabolism and signal transduction. In most animals, including humans, although the sperm-derived paternal mitochondria enter the oocyte cytoplasm after fertilization, their mtDNA is never transmitted to the offspring. This pattern of mtDNA inheritance is well known as "maternal inheritance." However, how the paternal mitochondria and mtDNA are eliminated from the cytoplasm of gametes or zygotes remains an enigma. Recently, a variety of mechanisms, including specific nuclease-dependent systems, ubiquitin-proteasome system, and autophagy have been shown to degrade the paternal mtDNA or the paternal mitochondria themselves in order to prevent paternal mtDNA transmission. In this review, we will address the current state of knowledge of the molecular mechanisms underlying the elimination of paternal mtDNA or mitochondrial structures for ensuring the maternal transmission of mtDNA.

  10. 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. PMID:27631491

  11. Higher levels of multiple paternities increase seedling survival in the long-lived tree Eucalyptus gracilis.

    PubMed

    Breed, Martin F; Christmas, Matthew J; Lowe, Andrew J

    2014-01-01

    Studying associations between mating system parameters and fitness in natural populations of trees advances our understanding of how local environments affect seed quality, and thereby helps to predict when inbreeding or multiple paternities should impact on fitness. Indeed, for species that demonstrate inbreeding avoidance, multiple paternities (i.e. the number of male parents per half-sib family) should still vary and regulate fitness more than inbreeding--named here as the 'constrained inbreeding hypothesis'. We test this hypothesis in Eucalyptus gracilis, a predominantly insect-pollinated tree. Fifty-eight open-pollinated progeny arrays were collected from trees in three populations. Progeny were planted in a reciprocal transplant trial. Fitness was measured by family establishment rates. We genotyped all trees and their progeny at eight microsatellite loci. Planting site had a strong effect on fitness, but seed provenance and seed provenance × planting site did not. Populations had comparable mating system parameters and were generally outcrossed, experienced low biparental inbreeding and high levels of multiple paternity. As predicted, seed families that had more multiple paternities also had higher fitness, and no fitness-inbreeding correlations were detected. Demonstrating that fitness was most affected by multiple paternities rather than inbreeding, we provide evidence supporting the constrained inbreeding hypothesis; i.e. that multiple paternity may impact on fitness over and above that of inbreeding, particularly for preferentially outcrossing trees at life stages beyond seed development.

  12. 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

  13. Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.

    PubMed

    Wenger, Tara L; Bhoj, Elizabeth J; Wetmore, Ralph F; Mennuti, Michael T; Bartlett, Scott P; Mollen, Thomas J; McDonald-McGinn, Donna M; Zackai, Elaine H

    2015-04-01

    Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes. BSS presents with craniosynostosis, cutis gyrata, and significant developmental delay in most patients who survive infancy. There have only been 21 reported patients with BSS, which limits prognostication for clinicians and likely does not capture the full extent of the phenotype. Here we report on two additional patients with molecularly confirmed BSS, one each with p.Ser372Tyr and p.Tyr375Cys mutations in FGFR2. Cloverleaf skull was identified prenatally in one patient, with initial concern for Crouzon syndrome. Prenatal 3D ultrasound was performed, but cutis gyrata was only visible on retrospective examination following the clinical diagnosis of BSS after birth. Due to phenotypic overlap with Crouzon syndrome, but worse prognosis, we recommend consideration of prenatal 3D ultrasound and mutation testing for patients with suspected Crouzon to allow for prenatal diagnosis of BSS and to enable appropriate genetic counseling and postnatal care. One of our patients was noted to have a tracheal cartilaginous sleeve, which if present could explain sudden death. Of note, tracheal cartilaginous sleeves have been reported in other FGFR2-related craniosynostosis syndromes, and are associated with 90% risk of death by two years of age without tracheostomy. Tracheal cartilaginous sleeves are often only found incidentally at autopsy as they are difficult to diagnose without direct visualization of the trachea. This association and our experience suggests that BSS patients be evaluated for tracheal cartilaginous sleeve to prevent airway compromise. PMID:25706251

  14. Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome

    SciTech Connect

    Kubota, T.; Saitoh, S.; Jinno, Y.; Niikawa, N.; Matsumoto, T.; Narahara, K.; Fukushima, Y.

    1994-02-15

    Wiedemann-Beckwith syndrome (WBS) is a genetic disorder with overgrowth and predisposition to Wilms` tumor. The putative locus of the gene responsible for this syndrome is assigned to chromosome region 11p15.5, and genomic imprinting in this region has been proposed: the paternally derived gene(s) at 11p15.5 is selectively expressed, while the maternally transmitted gene(s) is inactive. The authors examined 18 patients for the parental origin of their 11p15 regions. DNA polymorphism analyses using 6 loci on chromosome 11 showed that 2 patients with duplications of 11p15 regions from their respective fathers and one from the mother, indicating the transmission of an excessive paternal gene at 11p15 to each patient. The result, together with the previous findings in karyotypically normal or abnormal patients and in overgrowth mouse experiments, are consistent with imprinting hypothesis that overexpression of paternally derived gene(s) at 11p15.5, probably the human insulin-like growth factor II (IFG-II) gene, may cause the phenotype. Total constitutional uniparental paternal disomy (UPD) or segmental UPD for the 6 loci examined of chromosome 11 was not observed in our 12 sporadic patients. In order to explain completely the inheritance of this syndrome in patients with various chromosomal constitutions, the authors propose an alternative imprinting mechanism involving the other locus that may be paternally imprinted and may suppress the expression of this gene. 28 refs., 3 figs., 1 tab.

  15. The course and interrelationship of maternal and paternal perinatal depression.

    PubMed

    Paulson, James F; Bazemore, Sharnail D; Goodman, Janice H; Leiferman, Jenn A

    2016-08-01

    The aims of the study were to describe course of depression in both mothers and fathers from the third trimester of pregnancy through 6 months postpartum and to examine the relationship between maternal and paternal depression. Hypotheses were as follows: (a) Depressive symptoms would be correlated between parents and (b) earlier depressive symptoms in one parent would predict later increases in depression in the other. Eighty cohabitating primiparous couples were recruited from prenatal OBGYN visits and community agencies and enrolled during pregnancy, between 28-week gestation and delivery. Participants completed measures of depression on four occasions: baseline and 1, 3, and 6 months postpartum. Ninety-eight percent of the enrolled couples (78; 156 individuals) completed the study. For both mothers and fathers, symptom severity ratings and classification as a probable case were stable across time, with prenatal depression persisting through 6 months in 75 % of mothers and 86 % of fathers. Prenatal depression in fathers predicted worsening depressive symptom severity in mothers across the first six postpartum months but not vice versa. In both expecting/new mothers and fathers, depression demonstrates a stable pattern of occurrence and symptom severity between 28-month gestation and 6 months postpartum. Although prenatal maternal depression is not predictive of symptom change in fathers, mothers with prenatally depressed partners showed significant worsening in overall symptom severity during the first six postpartum months. PMID:26790687

  16. Paternalism and Utilitarianism in Research with Human Participants

    PubMed Central

    Resnik, David B.

    2012-01-01

    In this article I defend a rule utilitarian approach to paternalistic policies in research with human participants. Some rules that restrict individual autonomy can be justified on the grounds that they help to maximize the overall balance of benefits over risks in research. The consequences that should be considered when formulating policy include not only likely impacts on research participants, but also impacts on investigators, institutions, sponsors, and the scientific community. The public reaction to adverse events in research (such as significant injury to participants or death) is a crucial concern that must be taken into account when assessing the consequences of different policy options, because public backlash can lead to outcomes that have a negative impact on science, such as cuts in funding, overly restrictive regulation and oversight, and reduced willingness of individuals to participate in research. I argue that concern about the public reaction to adverse events justifies some restrictions on the risks that competent, adult volunteers can face in research that offers them no significant benefits. The paternalism defended here is not pure, because it involves restrictions on the rights of investigators in order to protect participants. It also has a mixed rationale, because individual autonomy may be restricted not only to protect participants from harm but also to protect other stakeholders. Utility is not the sole justification for paternalistic research policies, since other considerations, such as justice and respect for individual rights/autonomy, must also be taken into account. PMID:23076346

  17. Paternal chronic colitis causes epigenetic inheritance of susceptibility to colitis

    PubMed Central

    Tschurtschenthaler, Markus; Kachroo, Priyadarshini; Heinsen, Femke-Anouska; Adolph, Timon Erik; Rühlemann, Malte Christoph; Klughammer, Johanna; Offner, Felix Albert; Ammerpohl, Ole; Krueger, Felix; Smallwood, Sébastien; Szymczak, Silke; Kaser, Arthur; Franke, Andre

    2016-01-01

    Inflammatory bowel disease (IBD) arises by unknown environmental triggers in genetically susceptible individuals. Epigenetic regulation of gene expression may integrate internal and external influences and may thereby modulate disease susceptibility. Epigenetic modification may also affect the germ-line and in certain contexts can be inherited to offspring. This study investigates epigenetic alterations consequent to experimental murine colitis induced by dextran sodium sulphate (DSS), and their paternal transmission to offspring. Genome-wide methylome- and transcriptome-profiling of intestinal epithelial cells (IECs) and sperm cells of males of the F0 generation, which received either DSS and consequently developed colitis (F0DSS), or non-supplemented tap water (F0Ctrl) and hence remained healthy, and of their F1 offspring was performed using reduced representation bisulfite sequencing (RRBS) and RNA-sequencing (RNA-Seq), respectively. Offspring of F0DSS males exhibited aberrant methylation and expression patterns of multiple genes, including Igf1r and Nr4a2, which are involved in energy metabolism. Importantly, DSS colitis in F0DSS mice was associated with decreased body weight at baseline of their F1 offspring, and these F1 mice exhibited increased susceptibility to DSS-induced colitis compared to offspring from F0Ctrl males. This study hence demonstrates epigenetic transmissibility of metabolic and inflammatory traits resulting from experimental colitis. PMID:27538787

  18. Rational suicide, assisted suicide, and indirect legal paternalism.

    PubMed

    Schramme, Thomas

    2013-01-01

    This article argues in favour of three related claims: First, suicide is not an immoral act. If people autonomously choose to kill themselves, this ought to be respected. Second, we can deem the desire to die comprehensible, and even rational, when the person contemplating suicide does not see a meaning in her life. This assessment is not based on a metaphysically dubious comparison between the actual life of a person and the supposed state of being dead. Third, from the first two theses it does not automatically follow that we should allow other people to help someone who autonomously and rationally chooses to die to pursue this plan. To argue against indirect legal paternalism, the practice of legally preventing someone else to assist a person to perform a suicide or to be killed on request, needs additional reasons. It is argued that assisted suicide and voluntary active euthanasia can indeed be justified by establishing a claim of persons who want to die but are not able to kill themselves. This mainly means that being really free to die should be interpreted as involving the means to fulfil one's desire to die.

  19. Maternal and paternal diversity in Xinjiang Kazakh population from China.

    PubMed

    Shan, W; Ren, Zh; Wu, W; Hao, H; Abulimiti, A; Chen, K; Zhang, F; Ma, Z; Zheng, X

    2014-11-01

    The ancient silk road of China passed through Xinjiang and facilitated gene exchanges from the East and the West which impacted on the genetic variation and structure of the nomadic Kazakh population residing there. In order to understand the nature of this genetic variation; 151 Xinjiang Kazakh samples were obtained from four main Kazakh groups and were analyzed using mtDNA and Y-chromosome markers. The Xinjiang Kazakh population is heterogeneous, showing the coexistence of matrilineal lineages with different origins. No genetic differentiation of mtDNA is observed among the four different regional Xinjiang Kazakh populations in Xinjiang by AMOVA and Networks. The genetic diversity of Y-STR loci is higher in Xinjiang Kazakhs (0.968 ± 0.014) than the Kazakhs from Kazakhstan (0.629 ± 0.071) and Russia (0.835 ± 0.020). East Eurasians make a more than 50% contribution to the maternal and paternal lineages of Xinjiang Kazakhs. There is more gene flow from West Eurasian into the maternal lineages of Xinjiang Kazakh than to the Kazakhs from Russia and Kazakhstan. Moreover, mtDNA and Y-STR displayed high polymorphism in Xinjiang Kazakhs (the haplotype diversity and power of discrimination were 0.990 ± 0.003, 0.9137 for mtDNA HVS and 0.968 ± 0.014, 0.9489 for Y-STR system, respectively), suggesting they would be very useful and important markers for forensic analysis and population genetic studies.

  20. The paternal function in Winnicott: the psychoanalytical frame.

    PubMed

    Faimberg, Haydée

    2014-08-01

    My first aim has been to identify the implicit assumptions underlying Winnicott's detailed notes on a fragment of an analysis dating from 1955 and published after his death. The importance given by Winnicott to the father figure as early as 1955 is one of my discoveries; another is the deep Freudian roots of his thinking. In this essay I propose a new way of linking together the concepts of 'paternal function' and the 'psychoanalytical frame'. Developing my hypothesis, I compare my reading of Winnicott and my way of reading José Bleger's study on the frame. Like Winnicott, I explore in detail a process of discovery, focusing on what the analyst and the patient are nor fully aware of …'as yet'. I am not proposing to unify Winnicott's and Bleger's thinking. My aim is to avoid the pitfall of eclecticism and, in so doing, to recognize both the related depths they sound in their thinking and their otherness. I want to share with the readers their 'meeting' in my mind. PMID:25229543

  1. Paternalism and utilitarianism in research with human participants.

    PubMed

    Resnik, David B

    2015-03-01

    In this article I defend a rule utilitarian approach to paternalistic policies in research with human participants. Some rules that restrict individual autonomy can be justified on the grounds that they help to maximize the overall balance of benefits over risks in research. The consequences that should be considered when formulating policy include not only likely impacts on research participants, but also impacts on investigators, institutions, sponsors, and the scientific community. The public reaction to adverse events in research (such as significant injury to participants or death) is a crucial concern that must be taken into account when assessing the consequences of different policy options, because public backlash can lead to outcomes that have a negative impact on science, such as cuts in funding, overly restrictive regulation and oversight, and reduced willingness of individuals to participate in research. I argue that concern about the public reaction to adverse events justifies some restrictions on the risks that competent, adult volunteers can face in research that offers them no significant benefits. The paternalism defended here is not pure, because it involves restrictions on the rights of investigators in order to protect participants. It also has a mixed rationale, because individual autonomy may be restricted not only to protect participants from harm but also to protect other stakeholders. Utility is not the sole justification for paternalistic research policies, since other considerations, such as justice and respect for individual rights/autonomy, must also be taken into account.

  2. Paternalism and utilitarianism in research with human participants.

    PubMed

    Resnik, David B

    2015-03-01

    In this article I defend a rule utilitarian approach to paternalistic policies in research with human participants. Some rules that restrict individual autonomy can be justified on the grounds that they help to maximize the overall balance of benefits over risks in research. The consequences that should be considered when formulating policy include not only likely impacts on research participants, but also impacts on investigators, institutions, sponsors, and the scientific community. The public reaction to adverse events in research (such as significant injury to participants or death) is a crucial concern that must be taken into account when assessing the consequences of different policy options, because public backlash can lead to outcomes that have a negative impact on science, such as cuts in funding, overly restrictive regulation and oversight, and reduced willingness of individuals to participate in research. I argue that concern about the public reaction to adverse events justifies some restrictions on the risks that competent, adult volunteers can face in research that offers them no significant benefits. The paternalism defended here is not pure, because it involves restrictions on the rights of investigators in order to protect participants. It also has a mixed rationale, because individual autonomy may be restricted not only to protect participants from harm but also to protect other stakeholders. Utility is not the sole justification for paternalistic research policies, since other considerations, such as justice and respect for individual rights/autonomy, must also be taken into account. PMID:23076346

  3. Autonomy and paternalism in medical e-commerce.

    PubMed

    Mendoza, Roger Lee

    2015-08-01

    One of the overriding interests of the literature on health care economics is to discover where personal choice in market economies end and corrective government intervention should begin. Our study addresses this question in the context of John Stuart Mill's utilitarian principle of harm. Our primary objective is to determine whether public policy interventions concerning more than 35,000 online pharmacies worldwide are necessary and efficient compared to traditional market-oriented approaches. Secondly, we seek to determine whether government interference could enhance personal  utility maximization, despite its direct and indirect (unintended) costs on medical e-commerce. This study finds that containing the negative externalities of medical e-commerce provides the most compelling raison d'etre of government interference. It asserts that autonomy and paternalism need not be mutually exclusive, despite their direct and indirect consequences on individual choice and decision-making processes. Valuable insights derived from Mill's principle should enrich theory-building in health care economics and policy.

  4. Paternal chronic colitis causes epigenetic inheritance of susceptibility to colitis.

    PubMed

    Tschurtschenthaler, Markus; Kachroo, Priyadarshini; Heinsen, Femke-Anouska; Adolph, Timon Erik; Rühlemann, Malte Christoph; Klughammer, Johanna; Offner, Felix Albert; Ammerpohl, Ole; Krueger, Felix; Smallwood, Sébastien; Szymczak, Silke; Kaser, Arthur; Franke, Andre

    2016-01-01

    Inflammatory bowel disease (IBD) arises by unknown environmental triggers in genetically susceptible individuals. Epigenetic regulation of gene expression may integrate internal and external influences and may thereby modulate disease susceptibility. Epigenetic modification may also affect the germ-line and in certain contexts can be inherited to offspring. This study investigates epigenetic alterations consequent to experimental murine colitis induced by dextran sodium sulphate (DSS), and their paternal transmission to offspring. Genome-wide methylome- and transcriptome-profiling of intestinal epithelial cells (IECs) and sperm cells of males of the F0 generation, which received either DSS and consequently developed colitis (F0(DSS)), or non-supplemented tap water (F0(Ctrl)) and hence remained healthy, and of their F1 offspring was performed using reduced representation bisulfite sequencing (RRBS) and RNA-sequencing (RNA-Seq), respectively. Offspring of F0(DSS) males exhibited aberrant methylation and expression patterns of multiple genes, including Igf1r and Nr4a2, which are involved in energy metabolism. Importantly, DSS colitis in F0(DSS) mice was associated with decreased body weight at baseline of their F1 offspring, and these F1 mice exhibited increased susceptibility to DSS-induced colitis compared to offspring from F0(Ctrl) males. This study hence demonstrates epigenetic transmissibility of metabolic and inflammatory traits resulting from experimental colitis. PMID:27538787

  5. Molecular insights of saliva in solving paternity dispute.

    PubMed

    Patidar, Madhvika; Agrawal, Suraksha; Parveen, Farah; Khare, Parul

    2015-01-01

    Everyone is born with a unique genetic blueprint i.e. its own genome. Special locations called loci on different chromosomes display predictable inheritance patterns that could be used to determine biological relationships. These locations contain specific DNA sequences, called markers, which forensic scientists use as identifying marks for individuals. Saliva is a potentially useful source of genomic DNA for genetic studies. Paternity testing is based on the premise that we inherit half our DNA from our father and half from our mother. Therefore, persons who are biologically related must share similar DNA profile. Conversely, the absence of similarities in the DNA profiles of the child and the alleged father is used as proof that no biological relationship exists. In this paper, a female complained for being raped a year back by Mr. X and accused him of being father of her 3-months-old baby girl. DNA testing was done using saliva for the child and blood sample from the mother and the suspected father. The finding presented here allows the use of saliva as an alternative source of blood. PMID:25709326

  6. Multiple Paternity in Urban Norway Rats: Extended Ranging for Mates.

    PubMed

    Glass, Gregory E; Klein, Sabra L; Norris, Douglas E; Gardner, Lynne C

    2016-05-01

    Norway rats are an abundant synanthropic species in urban settings and serve as reservoirs for many pathogens. Attempts to control their populations have met with little success. Recent genetic studies suggest that local populations are structured and few individuals move significant distances, but there is substantial gene flow. To understand these observations and their implications on control strategies, we genotyped 722 rats from 20 alleys in Baltimore to establish paternity for 180 embryos. Up to 88 males may have contributed to the litters. All litters were sired by ≥2 males, with an average of 4.9 (range 2-7) males. For dams and sires with known locations, most matings (71.7%; n = 46) occurred among animals from different alleys. The average distance between sires and dams was 114 meters (range 8-352 meters). In 10/17 (58.8%) litters, the majority of the identified sires were captured in different alleys than the females. Sires were significantly less related to females than were the males captured in the females' alleys. Although rats may generally restrict their movements, either receptive females and/or breeding males engage in mate-seeking behaviors that extend beyond movement patterns at other times. This geographically extends the sizes of local populations and buffers them from the impacts of control strategies that focus on local infestations. PMID:26885622

  7. Autonomy and paternalism in medical e-commerce.

    PubMed

    Mendoza, Roger Lee

    2015-08-01

    One of the overriding interests of the literature on health care economics is to discover where personal choice in market economies end and corrective government intervention should begin. Our study addresses this question in the context of John Stuart Mill's utilitarian principle of harm. Our primary objective is to determine whether public policy interventions concerning more than 35,000 online pharmacies worldwide are necessary and efficient compared to traditional market-oriented approaches. Secondly, we seek to determine whether government interference could enhance personal  utility maximization, despite its direct and indirect (unintended) costs on medical e-commerce. This study finds that containing the negative externalities of medical e-commerce provides the most compelling raison d'etre of government interference. It asserts that autonomy and paternalism need not be mutually exclusive, despite their direct and indirect consequences on individual choice and decision-making processes. Valuable insights derived from Mill's principle should enrich theory-building in health care economics and policy. PMID:25547271

  8. Maternalism as a Viable Alternative to the Risks Imposed by Paternalism. A Response to "Paternalism, Obesity, and Tolerable Levels of Risk"

    ERIC Educational Resources Information Center

    Peterson, Barbara A.

    2012-01-01

    In his paper, Michael Merry poses an interesting and important question: How can we navigate between two often opposing interests--that of protecting the welfare of our society's children and that of protecting their liberties by avoiding paternalism? While Merry lays out his argument with clarity and insight into the risks and harm that state…

  9. Auriculotemporal Syndrome (Frey Syndrome).

    PubMed

    Motz, Kevin M; Kim, Young J

    2016-04-01

    Frey syndrome is a common sequela of parotidectomy, and although it is not frequently manifested clinically, it can cause significant morbidity for those affected. Frey syndrome results from synkinetic autonomic reinnervation by transected postganglionic parasympathetic nerve fiber within the parotid gland to the overlying sweat glands of the skin. Many surgical techniques have been proposed to prevent the development of Frey syndrome. For those who develop clinical symptoms of Frey syndrome, objective testing can be performed with a Minor starch-iodine test. Some of the current methods to prevent and treat symptomatic Frey syndrome are reviewed. PMID:26902982

  10. 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 ...

  11. Preconception Maternal and Paternal Exposure to Persistent Organic Pollutants and Birth Size: The LIFE Study

    PubMed Central

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

    2014-01-01

    Background: Persistent organic pollutants (POPs) are developmental toxicants, but the impact of both maternal and paternal exposures on offspring birth size is largely unexplored. Objective: We examined associations between maternal and paternal serum concentrations of 63 POPs, comprising five major classes of pollutants, with birth size measures. Methods: 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. Results: 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. Conclusions: Preconceptional maternal and paternal concentrations of several POPs were associated with statistically significant differences in birth size among offspring. Citation: Robledo CA, Yeung E

  12. The Effect of Multiple Paternity on Genetic Diversity of Small Populations during and after Colonisation

    PubMed Central

    Rafajlović, Marina; Eriksson, Anders; Rimark, Anna; Hintz-Saltin, Sara; Charrier, Grégory; Panova, Marina; André, Carl; Johannesson, Kerstin; Mehlig, Bernhard

    2013-01-01

    Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration) has been reached. During colonisation, multiple mating by males increased the heterozygosity by in comparison with single paternity, while in the steady state the increase was compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity. PMID:24204577

  13. Paternal age as a risk factor for schizophrenia: how important is it?

    PubMed

    Torrey, E Fuller; Buka, Stephen; Cannon, Tyrone D; Goldstein, Jill M; Seidman, Larry J; Liu, Tianli; Hadley, Trevor; Rosso, Isabelle M; Bearden, Carrie; Yolken, Robert H

    2009-10-01

    Advanced paternal age has been widely cited as a risk factor for schizophrenia among offspring and even claimed to account for one-quarter of all cases. We carried out a new study on 25,025 offspring from the Collaborative Perinatal Project (CPP), including 168 diagnosed with psychosis and 88 with narrowly defined schizophrenia. We also conducted a meta-analysis of this and nine other studies for which comparable age-cohort data were available. The mean paternal age for the CPP cases was slightly, but not significantly, higher than the matched controls (p=0.28). Meta-analyses including these new results were conducted to determine the relative risk associated with alternative definitions of advanced paternal age (35, 45 or 55 years and older). These yielded pooled odds ratios and 95% confidence intervals of 1.28 (1.10, 1.48), 1.38 (0.95, 2.01) and 2.22 (1.46, 3.37), respectively. Thus, increased paternal age appears to be a risk factor for schizophrenia primarily among offspring of fathers ages 55 and over. In these 10 studies, such fathers accounted for only 0.6% of all births. Compared with other known risk factors for schizophrenia, advanced paternal age appears to be intermediate in magnitude. Advanced paternal age is also known to be a risk factor for some chromosomal and neoplastic diseases in the offspring where the cause is thought to be chromosomal aberrations and mutations of the aging germline. Similar mechanisms may account for the relationship between advanced paternal age and schizophrenia risk.

  14. Relationship of Paternity Status, Welfare Reform Period, and Racial/Ethnic Disparities in Infant Mortality.

    PubMed

    Ngui, Emmanuel M; Cortright, Alicia L; Michalski, Karen

    2015-09-01

    The objective of this study was to examine the relationship of paternity status, welfare reform period, and racial/ethnic disparities in infant mortality. The study used retrospective analysis of birth outcomes data from singleton birth/infant death data in Milwaukee, Wisconsin, from 1993 to 2009. Multivariate logistic regression was used to examine the relationship between paternity status, welfare reform period, and infant mortality, adjusting for maternal and infant characteristics. Data consisted of almost 185,000 singleton live births and 1,739 infant deaths. Although unmarried women with no father on record made up about 32% of the live births, they accounted for over two thirds of the infant deaths compared with married women with established paternity who made up 39% of live births but had about a quarter of infant deaths. After adjustments, any form of paternity establishment was protective against infant mortality across all racial/ethnic groups. Unmarried women with no father on record had twice to triple the odds of infant mortality among all racial/ethnic groups. The likelihood of infant mortality was only significantly greater for African American women in the postwelfare (1999-2004; odds ratio = 1.27; 95% confidence interval = 1.10-1.46) period compared with the 1993 to 1998 period. Study findings suggest that any form of paternity establishment may have protective effect against infant mortality. Welfare reform changes may have reduced some of the protection against infant mortality among unmarried African American women that was present before the welfare legislation. Policies and programs that promote or support increased paternal involvement and establishment of paternity may improve birth outcomes and help reduce infant mortality.

  15. The effect of multiple paternity on genetic diversity of small populations during and after colonisation.

    PubMed

    Rafajlović, Marina; Eriksson, Anders; Rimark, Anna; Hintz-Saltin, Sara; Charrier, Grégory; Panova, Marina; André, Carl; Johannesson, Kerstin; Mehlig, Bernhard

    2013-01-01

    Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration) has been reached. During colonisation, multiple mating by [Formula: see text] males increased the heterozygosity by [Formula: see text] in comparison with single paternity, while in the steady state the increase was [Formula: see text] compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity. PMID:24204577

  16. Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene

    SciTech Connect

    Morrow, J.F.; Rapaport, J.M.; Dryia, T.P.

    1994-09-01

    New germline mutations in the human retinoblastoma gene preferentially arise on a paternally derived allele. In nonhereditary retinoblastoma, the initial somatic mutation seems to have no such bias. The few previous reports of these phenomena included relatively few cases (less than a dozen new germline or initial somatic mutations), so that the magnitude of the paternal allele bias for new germline mutations is not known. Knowledge of the magnitude of the bias is valuable for genetic counseling, since, for example, patients with new germline mutations who reproduce transmit risk for retinoblastoma according to the risk that the transmitted allele has a germline mutation. We sought to quantitate the paternal allele bias and to determine whether paternal age is a factor possibly accounting for it. We studied 311 families with retinoblastoma (261 simplex, 50 multiplex) that underwent clinical genetic testing and 5 informative families recruited from earlier research. Using RFLPs and polymorphic microsatellites in the retinoblastoma gene, we could determine the parental origin of 45 new germline mutations and 44 probable initial somatic mutations. Thirty-seven of the 45 new germline mutations, or 82%, arose on a paternal allele while only 24 of the 44 initial somatic mutations (55%) did so. Increased paternal age does not appear to account for the excess of new paternal germline mutations, since the average age of fathers of children with new germline mutations (29.4 years, n=26, incomplete records on 11) was not significantly different from the average age of fathers of children with maternal germline mutations or somatic initial mutations (29.8 years, n=35, incomplete records on 17).

  17. Is there a greater maternal than paternal influence on offspring adiposity in India?

    PubMed

    Corsi, Daniel J; Subramanian, S V; Ackerson, Leland K; Davey Smith, George

    2015-10-01

    Previous research has provided conflicting evidence regarding fetal roots of adiposity in India. To compare the strength of association between maternal and paternal body mass indexes (BMIs) corrected for height with offspring BMI in India to examine the potential for intrauterine mechanisms to influence offspring adiposity in India, we analysed a sample of 16,528 mother-father-offspring trios from the 2005 to 2006 Indian National Family Health Survey. Children were aged 0-59 months with parents aged 15-49 years (mothers) and 15-54 years (fathers). Linear and logistic regression models, specified in multiple ways, were used to estimate associations between parental BMI* (BMI redefined by power term x (kg/m(x)) to be independent from height), and child BMI/top decile of child BMI. Higher values of maternal BMI and paternal BMI were associated with higher values of offspring BMI. In comparing the effects of maternal BMI and paternal BMI, however, no consistent differences were found in the strength of these parental influences on offspring BMI. In the fully adjusted linear model, the standardised coefficient was 0.131 (95% CI 0.110 to 0.154) for maternal BMI* and 0.079 (95% CI 0.056 to 0.103) for paternal BMI*; with evidence of heterogeneity between maternal-offspring and paternal-offspring associations (p=0.005). This was not robust in the unstandardised regression (β=0.056, 95% CI 0.044 to 0.067 for maternal BMI and β=0.039, 95% CI 0.025 to 0.053 for paternal BMI, p=0.093). Mixed results indicate that compared with paternal BMI, maternal BMI did not have a consistently stronger influence on offspring BMI in India.

  18. Tourette syndrome

    MedlinePlus

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. The syndrome may be linked to ...

  19. The evolution and suppression of male suicide under paternal genome elimination.

    PubMed

    Ross, Laura; Shuker, David M; Pen, Ido

    2011-02-01

    Different genetic systems can be both the cause and the consequence of genetic conflict over the transmission of genes, obscuring their evolutionary origin. For instance, with paternal genome elimination (PGE), found in some insects and mites, both sexes develop from fertilized eggs, but in males the paternally derived chromosomes are either lost (embryonic PGE) or deactivated (germline PGE) during embryogenesis and not transmitted to the next generation. Evolution of germline PGE requires two transitions: (1) elimination of the paternal genome during spermatogenesis; (2) deactivation of the paternal genome early in development. Hypotheses for the evolution of PGE have mainly focused on the first transition. However, maternal genes seem to be responsible for the deactivation and here we investigate if maternal suppression could have evolved in response to paternally expressed male suicide genes. We show that sibling competition can cause such genes to spread quickly and that inbreeding is necessary to prevent fixation of male suicide, and subsequent population extinction. Once male-suicide has evolved, maternally expressed suppressor genes can invade in the population. Our results highlight the rich opportunity for genetic conflict in asymmetric genetic systems and the counterintuitive phenotypes that can evolve as a result.

  20. Paternal correlates of cognitive and behavioral functioning in children with myelomeningocele.

    PubMed

    Wohlfeiler, Melissa M; Macias, Michelle M; Saylor, Conway F

    2008-11-01

    This study examined paternal correlates of the cognitive and behavioral functioning of children with myelomeningocele, when controlling for maternal and biological/child correlates as possible sources of variance. Participants were 48 parent dyads of children with myelomeningocele (21 males, 27 females) between the ages of 4 and 12 years (mean 8y, 2mo, SD 2y 3mo). Lesion levels of participants ranged from the thoracic to sacral (thoracic-L3: n=15; L4-L5: n=15; sacral or lipomeningocele: n=18), of whom 38 had been shunted for hydrocephalus. Half of the participants (n=24) were community ambulators. Potential predictors of cognitive and behavioral functioning included paternal and maternal parenting stress, as assessed by the Parenting Stress Index - Short Form paternal, and maternal perceptions of support and resources, as assessed by the Family Resource Scale and the Family Support Scale, and child medical severity. Paternal variables significantly correlated with behavioral functioning but not with cognitive functioning. Regression analyses revealed that paternal personal distress and maternal perceived adequacy of social support accounted for significant variance in overall child behavioral functioning. Only child medical severity and annual household income explained significant variance in overall child cognitive functioning. These findings add to the growing body of theory and research documenting that fathers make unique and significant contributions to child adjustment in children with myelomeningocele. Both fathers and mothers need to be considered in interventions supporting development and adjustment of children with myelomeningocele and their families.

  1. Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries.

    PubMed

    Tozzo, Pamela; Caenazzo, Luciana; Parker, Michael J

    2014-03-01

    Misattributed paternity or 'false' paternity is when a man is wrongly thought, by himself and possibly by others, to be the biological father of a child. Nowadays, because of the progression of genetics and genomics the possibility of finding misattributed paternity during familial genetic testing has increased. In contrast to other medical information, which pertains primarily to individuals, information obtained by genetic testing and/or pedigree analysis necessarily has implications for other biologically related members in the family. Disclosing or not a misattributed paternity has a number of different biological and social consequences for the people involved. Such an issue presents important ethical and deontological challenges. The debate centres on whether or not to inform the family and, particularly, whom in the family, about the possibility that misattributed paternity might be discovered incidentally, and whether or not it is the duty of the healthcare professional (HCP) to disclose the results and to whom. In this paper, we consider the different perspectives and reported problems, and analyse their cultural, ethical and legal dimensions. We compare the position of HCPs from an Italian and British point of view, particularly their role in genetic counselling. We discuss whether the Oviedo Convention of the Council of Europe (1997) can be seen as a basis for enriching the debate.

  2. 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.

  3. 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

  4. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.

    PubMed Central

    Gelb, B D; Willner, J P; Dunn, T M; Kardon, N B; Verloes, A; Poncin, J; Desnick, R J

    1998-01-01

    Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V). Since the A277V mutation was carried by the patient's father but not by his mother, who had two normal cathepsin K alleles, paternal uniparental disomy was suspected. Karyotyping of the patient and of both parents was normal, and high-resolution cytogenetic analyses of chromosome 1, to which cathepsin K is mapped, revealed no abnormalities. Evaluation of polymorphic DNA markers spanning chromosome 1 demonstrated that the patient had inherited two paternal chromosome 1 homologues, whereas alleles for markers from other chromosomes were inherited in a Mendelian fashion. The patient was homoallelic for informative markers mapping near the chromosome 1 centromere, but he was heteroallelic for markers near both telomeres, establishing that the paternal uniparental disomy with partial isodisomy was caused by a meiosis II nondisjunction event. Phenotypically, the patient had normal birth height and weight, had normal psychomotor development at age 7 years, and had only the usual features of pycnodysostosis. This patient represents the first case of paternal uniparental disomy of chromosome 1 and provides conclusive evidence that paternally derived genes on human chromosome 1 are not imprinted. PMID:9529353

  5. Experimental evidence for paternal effects on offspring growth rate in Arctic charr (Salvelinus alpinus)

    PubMed Central

    Eilertsen, Eirik Mack; Bårdsen, Bård-Jørgen; Liljedal, Ståle; Rudolfsen, Geir; Folstad, Ivar

    2008-01-01

    Sexual selection theory predicts that females should choose males that signal viability and quality. However, few studies have found fitness benefits among females mating with highly ornamented males. Here, we use Arctic charr (Salvelinus alpinus), a teleost fish with no parental care, to investigate whether females could gain fitness benefits by mating with highly ornamented and large-sized males. Carotenoid-based coloration signalled by males during spawning is believed to be an indicator of good genes for this species. Paternal effects on offspring size (body length and dry body mass) were examined experimentally by crossing eggs and sperm in vitro from 12 females and 24 males in a split-brood design and raising larvae to 30 days past hatching. We clearly demonstrated that there was a relationship between offspring size and paternal coloration. However, a negative interaction between paternal length and coloration was evident for offspring length, indicating that positive effects of paternal coloration were only present for smaller males. Thus, the red spawning coloration of the male Arctic charr seems to be an indicator of good genes, but the effect of paternal coloration on offspring length, an indicator of ‘offspring quality’, is size dependent. PMID:18782751

  6. Heterozygosity and extra-pair paternity: biased tests result from the use of shared markers.

    PubMed

    Wetzel, Daniel P; Westneat, David F

    2009-05-01

    Recent studies of extra-pair paternity have found support for the idea that heterozygous males have an advantage in siring offspring. Most studies use DNA microsatellite loci to determine paternity and then use the same loci to estimate individual heterozygosity. However, because the likelihood of detecting extra-pair offspring depends on the combinations of parental alleles, it is possible that biases arise from particular allele combinations. This might produce false support for the influence of heterozygosity on mating behaviour. We used a simulation model to assess how large this bias might be. We found two sources of bias. First, we found a bias in the null hypothesis of a simple statistical test commonly used to test several predictions of the heterozygosity hypothesis. The use of randomization tests could eliminate this bias. Second, we found that using the same loci for both paternity and heterozygosity can cause an increase in results supporting the heterozygosity hypothesis when no effect of heterozygosity actually exists. This bias is reduced through the use of more markers with higher levels of polymorphism and heterozygosity, but can be eliminated entirely by using a separate set of markers to determine paternity and assess heterozygosity. The two sources of bias reduce evidence favouring the heterozygosity hypothesis, but do not negate all of the studies that support it. We suggest that further studies of heterozygosity and extra-pair paternity are important and likely to be informative, but our recommendations should be incorporated by researchers to improve the reliability of their conclusions.

  7. The evolution of paternal care can lead to population growth in artificial societies.

    PubMed

    Salgado, Mauricio

    2015-09-01

    Evolutionary models of paternal care predict that when female reproductive effort is higher than male reproductive effort, selection might favour the emergence of unconditional male cooperation towards females, even when the latter group does not reciprocate. However, previous models have assumed constant population sizes, so the ecology of interacting individuals and its effects on population dynamics have been neglected. This paper reports an agent-based model that incorporates ecological dynamics into evolutionary game dynamics by allowing populations to vary. As previous models demonstrate, paternal care only evolves when female reproductive effort is higher than that of males, and the optimal strategy for females is to exploit male unconditional cooperation. The model also shows that evolution of this behaviour drives some simulations towards regimes of population growth. Thanks to the evolution of paternal care, females׳ inter-birth intervals are shortened and causing them to reproduce faster. Thus, it is suggested that the evolution of paternal care in species with differential reproductive effort between sexes could be associated to population growth. Nevertheless, the modelled evolutionary dynamics are stochastic, so differences in reproductive effort are necessary but not sufficient conditions for the evolution of paternal care.

  8. 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.

  9. DNA damage recognition in the rat zygote following chronic paternal cyclophosphamide exposure.

    PubMed

    Barton, Tara S; Robaire, Bernard; Hales, Barbara F

    2007-12-01

    The detrimental effects of preconceptional paternal exposure to the alkylating anticancer agent, cyclophosphamide, include aberrant epigenetic programming, dysregulated zygotic gene activation, and abnormalities in the offspring that are transmitted to the next generation. The adverse developmental consequences of genomic instabilities transmitted via the spermatozoon emphasize the need to elucidate the mechanisms by which the early embryo recognizes DNA damage in the paternal genome. Little information exists on DNA damage detection in the zygote. We assessed the impact of paternal cyclophosphamide exposure on phosphorylated H2AX (gammaH2AX) and poly(ADP-ribose) polymerase-1(PARP-1), biomarkers of DNA damage, to determine the capacity in the rat zygote to recognize genomic damage and initiate a response to DNA lesions. An amplified biphasic gammaH2AX response was triggered in the paternal pronucleus in zygotes sired by drug-treated males; the maternal genome was not affected. PARP-1 immunoreactivity was substantially elevated in both parental genomes, coincident with the second phase of gammaH2AX induction in embryos sired by cyclophosphamide-exposed spermatozoa. Thus, paternal exposure to a DNA damaging agent rapidly activates signals implemental for DNA damage recognition in the zygote. Inefficient repair of DNA lesions may lead to persistent alterations of the histone code and chromatin integrity, resulting in aberrant embryogenesis. We propose that the response of the early embryo to disturbances in spermatozoal genomic integrity plays a vital role in determining its outcome.

  10. Characterization of antibodies induced by paternal lymphocyte immunization in couples with recurrent spontaneous abortion.

    PubMed

    Lubinski, J; Vrdoljak, V J; Beaman, K D; Kwak, J Y; Beer, A E; Gilman-Sachs, A

    1993-07-01

    This study was designed to identify and characterize the allo- and autoantibodies induced following successful paternal lymphocyte immunization to prevent recurrent spontaneous abortion. Firstly the titers of maternal anti-paternal antibodies in women with successful pregnancies as determined by the flow cytometry crossmatch (FCXM) were highly variable; however, in all cases, the initial pre-immunization titers were negative and the post-immunization titers were positive by the FCXM in successfully treated women. Secondly, the specificities of maternal alloantibodies to paternal HLA antigens (immunogen) were evaluated. No all predicted antibodies to mismatched paternal HLA antigens were found by microlymphocytotoxicity (MCX) assays and the specificities varied. Thirdly, antibodies in post- but not preimmunization sera reacted with two lymphoid cell lines, SupT1 and SB; in addition, the rise and fall of the titers of these sera with paternal cells seemed to be reflected with the cell lines by the FCXM. Fourthly, autoantibodies to activated lymphocytes were detected and seemed to correlate with successful immunization since women who had another abortion following immunotherapy lacked these autoantibodies. These findings suggest that the antibody response following successful immunotherapy is complex and needs to be studied further to understand the mechanism of this treatment.

  11. Experimentally simulating paternity uncertainty: immediate and long-term responses of male and female reed warblers Acrocephalus scirpaceus.

    PubMed

    Hoi, Herbert; Krištofík, Ján; Darolová, Alžbeta

    2013-01-01

    In many socially monogamous species, both sexes seek copulation outside the pair bond in order to increase their reproductive success. In response, males adopt counter-strategies to combat the risk of losing paternity. However, no study so far has tried to experimentally prove the function of behaviour for paternity assurance. Introducing a potential extra-pair partner during the female fertile period provides a standardised method to examine how pair members respond immediately (e.g. increase mate guarding or copulation frequency) or long term (e.g. later parental investment and paternity uncertainty). In this study on a socially monogamous passerine species, we experimentally confronted pairs of reed warblers with a conspecific male (caged male simulating an intruder) during egg-laying. Our results revealed that occurrence of an intruder during that period triggered aggression against the intruder, depending on the presence of the female. The male territory owner also attacked the female partner to drive her away from the intruder. Thus territory defence in reed warblers also serves to protect paternity. The increase in paternity uncertainty did not affect later paternal investment. Paternal investment was also independent of the actual paternity losses. In females, the experiment elicited both, immediate and long-term responses. E.g. female copulation solicitations during the intruder experiment were only observed for females which later turned out to have extra-pair chicks in their nest. In relation to long term response females faced with an intruder invested later less in offspring feeding, and had less extra-pair chicks in their nests. Extra-pair paternity also seems to be affected by female quality (body size). In conclusion female reed warblers seem to seek extra-pair fertilizations but we could demonstrate that males adopt paternity assurance tactics which seems to efficiently help them to reduce paternity uncertainty. PMID:23658637

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

    PubMed

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

    2009-11-01

    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.

  13. 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.

  14. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer.

    PubMed

    Conti, Simon L; Eisenberg, Michael L

    2016-01-01

    As couples are increasingly delaying parenthood, the effect of the aging men and women on reproductive outcomes has been an area of increased interest. Advanced paternal age has been shown to independently affect the entire spectrum of male fertility as assessed by reductions in sperm quality and fertilization (both assisted and unassisted). Moreover, epidemiological data suggest that paternal age can lead to higher rates of adverse birth outcomes and congenital anomalies. Mounting evidence also suggests increased risk of specific pediatric and adult disease states ranging from cancer to behavioral traits. While disease states associated with advancing paternal age have been well described, consensus recommendations for neonatal screening have not been as widely implemented as have been with advanced maternal age. PMID:26975491

  15. Synchronous polyandry and multiple paternity in the frog Crinia georgiana (Anura: Myobatrachidae).

    PubMed

    Roberts; Standish; Byrne; Doughty

    1999-03-01

    Multiple paternity has rarely been reported in anuran amphibians, with only three previous documented examples. For the Australian frog Crinia georgiana, we observed synchronous polyandry in an average of 44% of matings observed at four field sites. This suggests matings involving more than one male are common in this species. One to eight males were observed in amplectant groups with second males amplexed ventrally. Genetic analyses, using allozyme electrophoresis, of offspring from two matings indicated that at least two of three possible males fathered offspring. Third males were unlikely to have shared paternity, explained by their inappropriate position during amplexus. Multiple paternity may be more common in frogs than has been reported. Copyright 1999 The Association for the Study of Animal Behaviour.

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

    PubMed

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

    2009-11-01

    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

  17. Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

    PubMed Central

    Bourassa, Cynthia V.; Lemieux Perreault, Louis-Philippe; Legault, Marc-André; Barhdadi, Amina; Ambalavanan, Amirthagowri; Brendgen, Mara; Vitaro, Frank; Noreau, Anne; Dionne, Ginette; Tremblay, Richard E.; Dion, Patrick A.; Boivin, Michel; Dubé, Marie-Pierre; Rouleau, Guy A.

    2016-01-01

    De novo mutations (DNM) are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the observation that increasing paternal age increases the risk for a number of diseases. Using disease-free familial quartets we show that there is a strong positive correlation between paternal age and germline DNM in healthy subjects. We also observed that germline CNVs do not follow the same trend, suggesting a different mechanism. Finally, we observed that DNM were not evenly distributed across the genome, which adds support to the existence of DNM hotspots. PMID:27723766

  18. Non-fatherhood or mutation? A probabilistic approach to parental exclusion in paternity testing.

    PubMed

    Dawid, A P; Mortera, J; Pascali, V L

    2001-12-15

    The occurrence of germline mutations at microsatellite loci poses problems in ascertaining non-fatherhood status in paternity testing. We describe the appropriate probabilistic analysis for computing the likelihood ratio in favour of paternity while allowing for mutation, for all 18 relevant combinations of seemingly incompatible parental genotypes. We allow arbitrary and possibly different mutation rates in paternal and maternal germlines. We describe a stationary mutation model for expressing the required allele-specific transition mutation rates in terms of overall mutation rates, and compare the likelihood ratios calculated from this and from other mutation models suggested in the literature. We also show how to derive an upper bound on the likelihood ratio, depending only on the overall mutation rate.

  19. Paternal heredity and housing characteristics affect childhood asthma and allergy morbidity.

    PubMed

    Hsu, Nai-Yun; Wang, Jiu-Yao; Wu, Pei-Chih; Su, Huey-Jen

    2012-01-01

    A birth cohort was initiated when each pregnant woman was asked for her own and her husband's history of asthma and allergic diseases at the time of recruitment. They were further inquired to verify their housing conditions, and current health status of children 3 to 5 years old at the time of interview. Paternal history was the most significant risk factor associated with reporting childhood morbidities at age of 3 to 5 years. Housing characteristics became meaningful variables only if the fathers were asthmatic or atopic. A 9-fold increase of risk was found if children with paternal history and also exposed to incense burning and water damage at home. This is the first epidemiological evidence of East Asia suggesting paternal heredity, with concurrent indoor hazardous exposures, as a predominant risk on developing childhood asthma and allergy.

  20. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer

    PubMed Central

    Conti, Simon L; Eisenberg, Michael L

    2016-01-01

    As couples are increasingly delaying parenthood, the effect of the aging men and women on reproductive outcomes has been an area of increased interest. Advanced paternal age has been shown to independently affect the entire spectrum of male fertility as assessed by reductions in sperm quality and fertilization (both assisted and unassisted). Moreover, epidemiological data suggest that paternal age can lead to higher rates of adverse birth outcomes and congenital anomalies. Mounting evidence also suggests increased risk of specific pediatric and adult disease states ranging from cancer to behavioral traits. While disease states associated with advancing paternal age have been well described, consensus recommendations for neonatal screening have not been as widely implemented as have been with advanced maternal age. PMID:26975491

  1. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer.

    PubMed

    Conti, Simon L; Eisenberg, Michael L

    2016-01-01

    As couples are increasingly delaying parenthood, the effect of the aging men and women on reproductive outcomes has been an area of increased interest. Advanced paternal age has been shown to independently affect the entire spectrum of male fertility as assessed by reductions in sperm quality and fertilization (both assisted and unassisted). Moreover, epidemiological data suggest that paternal age can lead to higher rates of adverse birth outcomes and congenital anomalies. Mounting evidence also suggests increased risk of specific pediatric and adult disease states ranging from cancer to behavioral traits. While disease states associated with advancing paternal age have been well described, consensus recommendations for neonatal screening have not been as widely implemented as have been with advanced maternal age.

  2. 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.

  3. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta.

    PubMed

    Orioli, I M; Castilla, E E; Scarano, G; Mastroiacovo, P

    1995-11-01

    The paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were compared with those of matched controls, from an Italian Indagine Policentrica Italiana sulle Malformazioni Congenite and a South American Estudio Colaborativo Latinoamericano de Malformaciones Congénitas series. The degree of paternal age effect on the origin of these dominant mutations differed among the three conditions. Mean paternal age was highly elevated in AC, 36.30 +/- 6.74 years in the IPIMC, and 37.19 +/- 10.53 years in the ECLAMC; less consistently elevated in TD, 33.60 +/- 7.08 years in the IPIMC, and 36.41 +/- 9.38 years in the ECLAMC; and only slightly elevated in OI in the ECLAMC, 31.15 +/- 9.25 years, but not in the IPIMC, 32.26 +/- 6.07 years. Increased maternal age or birth order in these conditions disappeared when corrected for paternal age. Approximately 50% of AC and TD cases, and only 30% of OI cases, were born to fathers above age 35 years. For AC and TD, the increase in relative incidence with paternal age fitted an exponential curve. The variability of paternal age effect in these new mutations could be due, among other reasons, to the high proportion of germ-line mosaicism in OI parents, or to the localization of the AC gene, mapped to the 4p16.3 region, in the neighborhood of an unstable DNA area.

  4. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

    SciTech Connect

    Orioli, I.M.; Castilla, E.E.; Scarano, G.; Mastroiacovo, P.

    1995-11-06

    The paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were compared with those of matched controls, from an Italian Indagine Policentrica Italiana sulle Malformazioni Congenite (IPIMC) and a South American Estudio Colaborativo Latinoamericano de Malformaciones Congenitas (ECLAMC) series. The degree of paternal age effect on the origin of these dominant mutations differed among the three conditions. Mean paternal age was highly elevated in AC, 36.30 {plus_minus} 6.74 years in the IPIMC, and 37.19 {plus_minus} 10.53 years in the ECLAMC; less consistently elevated in TD, 33.60 {plus_minus} 7.08 years in the IPIMC, and 36.41 {plus_minus} 9.38 years in the ECLAMC; and only slightly elevated in OI in the ECLAMC, 31.15 {plus_minus} 9.25 years, but not in the IPIMC, 32.26 {plus_minus} 6.07 years. Increased maternal age or birth order in these conditions disappeared when corrected for paternal age. Approximately 50% of AC and TD cases, and only 30% of OI cases, were born to fathers above age 35 years. For AC and TD, the increase in relative incidence with paternal age fitted an exponential curve. The variability of paternal age effect in these new mutations could be due, among other reasons, to the high proportion of germ-line mosaicism in OI parents, or to the localization of the AC gene, mapped to the 4p16.3 region, in the neighborhood of an unstable DNA area. 28 refs., 1 fig., 6 tabs.

  5. 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

  6. 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

  7. 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…

  8. 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…

  9. Arginine vasotocin activates aggressive calls during paternal care in the Puerto Rican coquí frog, Eleutherodactylus coqui.

    PubMed

    Ten Eyck, Gary R; ul Haq, Aazaz

    2012-09-13

    The Puerto Rican coquí frog, Eleutherodactylus coqui, is a directly developing frog that exhibits male territoriality and paternal behaviors. Male frogs also produce advertisement and aggressive vocalizations or calls. Territorial males emit advertisement calls to delineate territories and attract mates. Paternal males guard and brood the directly developing embryos during embryogenesis and up to five days after hatching; advertisement calling is normally absent or infrequent during paternal care. Territorial and paternal males commonly produce aggressive calls during agonistic situations. The neuropeptide, arginine vasotocin (AVT), has been shown to promote calling in anurans, including E. coqui. The objective of this study was to determine if exogenous AVT promotes calling and territorial behavior in paternal males and if it promotes males to abandon their offspring. Injections (IP) of AVT were given to paternal males immediately before the scotoperiod. Frogs were monitored for at least four hours after the injection and the following morning for calling activity and abandonment of egg clutches. AVT-injected males showed a dramatic and significant increase in aggressive calls compared to control males (saline injections). Exogenous AVT did induce advertisement calling in some paternal males but did not significantly elevate paternal males to territorial status nor did it significantly induce abandonment of eggs/embryos. In conclusion, the type of vocalization that AVT activates in E. coqui depends upon the reproductive state of the male and the social environment that surrounds the male. PMID:22884614

  10. 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…

  11. Paternal Alcoholism and Youth Substance Abuse: The Indirect Effects of Negative Affect, Conduct Problems, and Risk Taking

    PubMed Central

    Ohannessian, Christine McCauley; Hesselbrock, Victor M.

    2008-01-01

    This longitudinal study followed 200 adolescents into early adulthood to explore the potential mediating roles that hostility, sadness, conduct problems, and risk taking play in the relationship between paternal alcoholism and substance abuse. Results indicated that paternal alcoholism predicted hostility; in turn, hostility predicted risk taking, which predicted substance abuse. PMID:18207099

  12. Extra-pair paternity in the long-tailed finch Poephila acuticauda

    PubMed Central

    van Rooij, Erica P.; Rollins, Lee A.; Holleley, Clare E.

    2016-01-01

    Although the majority of passerine birds are socially monogamous, true genetic monogamy is rare, with extra-pair paternity (EPP) occurring in almost 90% of surveyed socially monogamous species. We present the first molecular data on the genetic breeding system of the long-tailed finch, Poephila acuticauda, a grass finch endemic to the tropical northern savannah of Australia. Although the species forms socially monogamous pair bonds during the breeding season, we found that extra-pair males sired 12.8% of 391 offspring, in 25.7% of 101 broods. Our findings provide only the second estimate of extra-pair paternity in the estrildid finch family. PMID:26788429

  13. 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

  14. 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.

  15. 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

  16. Contributions of maternal and paternal adiposity and smoking to adult offspring adiposity and cardiovascular risk: the Midspan Family Study

    PubMed Central

    Han, T S; Hart, C L; Haig, C; Logue, J; Upton, M N; Watt, G C M; Lean, M E J

    2015-01-01

    Objective Obesity has some genetic basis but requires interaction with environmental factors for phenotypic expression. We examined contributions of gender-specific parental adiposity and smoking to adiposity and related cardiovascular risk in adult offspring. Design Cross-sectional general population survey. Setting Scotland. Participants 1456 of the 1477 first generation families in the Midspan Family Study: 2912 parents (aged 45–64 years surveyed between 1972 and 1976) who had 1025 sons and 1283 daughters, aged 30–59 years surveyed in 1996. Main measures Offspring body mass index (BMI), waist circumference (WC), cardiometabolic risk (lipids, blood pressure and glucose) and cardiovascular disease as outcome measures, and parental BMI and smoking as determinants. All analyses adjusted for age, socioeconomic status and family clustering and offspring birth weight. Results Regression coefficients for BMI associations between father–son (0.30) and mother–daughter (0.33) were greater than father–daughter (0.23) or mother–son (0.22). Regression coefficient for the non-genetic, shared-environment or assortative-mating relationship between BMIs of fathers and mothers was 0.19. Heritability estimates for BMI were greatest among women with mothers who had BMI either <25 or ≥30 kg/m2. Compared with offspring without obese parents, offspring with two obese parents had adjusted OR of 10.25 (95% CI 6.56 to 13.93) for having WC ≥102 cm for men, ≥88 cm women, 2.46 (95% CI 1.33 to 4.57) for metabolic syndrome and 3.03 (95% CI 1.55 to 5.91) for angina and/or myocardial infarct (p<0.001). Neither parental adiposity nor smoking history determined adjusted offspring individual cardiometabolic risk factors, diabetes or stroke. Maternal, but not paternal, smoking had significant effects on WC in sons (OR=1.50; 95% CI 1.13 to 2.01) and daughters (OR=1.42; 95% CI 1.10 to 1.84) and metabolic syndrome OR=1.68; 95% CI 1.17 to 2.40) in sons. Conclusions There are

  17. Parental care, loss of paternity and circulating levels of testosterone and corticosterone in a socially monogamous song bird

    PubMed Central

    2014-01-01

    Introduction In biparental birds testosterone levels of males are typically high during the mating phase and decrease during the parental phase. Testosterone implants may enhance mating behaviors, increase the likelihood of males to engage in extra-pair mating behavior and may reduce paternal care. Thus, sex steroids such as testosterone influence reproductive behaviors. Little is known, however, as to whether the more subtle differences in physiological concentrations of testosterone that occur between individuals are related to differences in paternal care, extra-pair behavior, and genetic paternity between those males. Here, we investigate these relationships in the male black redstart (Phoenicurus ochruros), a socially monogamous songbird with a low breeding synchrony. We used nestling provisioning as a proxy for parental care behavior and genetic paternity loss as a proxy for the efficiency of mate-guarding. Results There was no relationship between nestling provisioning and paternity loss of males. Baseline and gonadotropin releasing hormone (GnRH)-induced levels of testosterone, but not baseline corticosterone, were significantly higher during the mating than during the provisioning phase. Males fed more often when temperatures decreased and fed less when they sang more, but we found no correlation between parental behavior and baseline or GnRH-induced testosterone, and baseline corticosterone – both measured during either the mating or the parental phase. However, males that experienced loss of paternity had lower levels of testosterone during the provisioning phase than males that did not lose paternity. Further, males that lost paternity also expressed higher baseline levels of corticosterone. Conclusions Physiological differences in testosterone or baseline corticosterone were not related to differences in parental care, suggesting that the variation of testosterone within a physiological range may not relate to the degree of paternal care in this

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

    SciTech Connect

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

    1996-09-20

    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 two 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.

  19. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

  20. Dravet Syndrome

    MedlinePlus

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  1. Fahr's Syndrome

    MedlinePlus

    ... Awards Enhancing Diversity Find People About NINDS NINDS Fahr's Syndrome Information Page Synonym(s): Familial Idiopathic Basal Ganglia ... is being done? Clinical Trials Organizations What is Fahr's Syndrome? Fahr's Syndrome is a rare, genetically dominant, ...

  2. Cushing syndrome

    MedlinePlus

    Hypercortisolism; Cortisol excess ... The most common cause of Cushing syndrome is taking too much glucocorticosteroid medicine. This form of Cushing syndrome is called exogenous Cushing syndrome . Prednisone, dexamethasone, and prednisolone are ...

  3. Williams syndrome

    MedlinePlus

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  4. Paternal Work Stress and Latent Profiles of Father-Infant Parenting Quality

    ERIC Educational Resources Information Center

    Goodman, W. Benjamin; Crouter, Ann C.; Lanza, Stephanie T.; Cox, Martha J.; Vernon-Feagans, Lynne

    2011-01-01

    The current study used latent profile analysis (LPA) to examine the implications of fathers' experiences of work stress for paternal behaviors with infants across multiple dimensions of parenting in a sample of fathers living in nonmetropolitan communities (N = 492). LPA revealed five classes of fathers based on levels of social-affective…

  5. Exploring the Role of Filipino Fathers: Paternal Behaviors and Child Outcomes

    ERIC Educational Resources Information Center

    Harper, Scott E.

    2010-01-01

    Using data collected from an urban Southern Visayan province during the Summer of 2006, this study examines a sample of 133 Filipino fathers to consider potential relationships between father behaviors and child outcomes. Increased paternal psychological control predicts increased problematic child outcomes, with sons being more affected than…

  6. Effects of Fathers' Early Risk and Resilience on Paternal Engagement with 5-Year-Olds

    ERIC Educational Resources Information Center

    Fagan, Jay; Lee, Yookyong

    2012-01-01

    The present study examined whether fathers' additive risk and resilience when the child is an infant and age 5 predicted paternal engagement with children at age 5. Using data from the Fragile Families and Child Wellbeing study (N = 4,898), we found that the results confirmed the hypothesis that early risk has a negative effect and early…

  7. 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…

  8. Paternal care: direct and indirect genetic effects of fathers on offspring performance.

    PubMed

    Head, Megan L; Berry, Lisa K; Royle, Nick J; Moore, Allen J

    2012-11-01

    Knowledge of how genetic effects arising from parental care influence the evolution of offspring traits comes almost exclusively from studies of maternal care. However, males provide care in some taxa, and often this care differs from females in quality or quantity. If variation in paternal care is genetically based then, like maternal care and maternal effects, paternal effects may have important consequences for the evolution of offspring traits via indirect genetic effects (IGEs). IGEs and direct-indirect genetic covariances associated with parental care can contribute substantially to total heritability and influence predictions about how traits respond to selection. It is unknown, however, if the magnitude and sign of parental effects arising from fathers are the same as those arising from mothers. We used a reciprocal cross-fostering experiment to quantify environmental and genetic effects of paternal care on offspring performance in the burying beetle, Nicrophorus vespilloides. We found that IGEs were substantial and direct-indirect genetic covariances were negative. Combined, these patterns led to low total heritabilities for offspring performance traits. Thus, under paternal care, offspring performance traits are unlikely to evolve in response to selection, and variation in these traits will be maintained in the population despite potentially strong selection on these traits. These patterns are similar to those generated by maternal care, indicating that the genetic effects of care on offspring performance are independent of the caregiver's sex.

  9. Paternal treadmill exercise enhances spatial learning and memory related to hippocampus among male offspring.

    PubMed

    Yin, M M; Wang, W; Sun, J; Liu, S; Liu, X L; Niu, Y M; Yuan, H R; Yang, F Y; Fu, L

    2013-09-15

    Both epidemiologic and laboratory studies suggest that parents can shape their offspring's development. Recently, it has been shown that maternal exercise during pregnancy benefits the progeny's brain function. However, little is known regarding the influence of paternal exercise on their offspring's phenotype. In this study we attempt to determine the effects of 6 weeks paternal treadmill exercise on spatial learning and memory and the expression of brain-derived neurotrophic factor (BDNF) and reelin in their male offspring. Sibling males were divided into two groups: the control (C) and the exercise group (E). The mice in the E group were exercised on a motor-driven rodent treadmill for 5 days per week for 6 weeks. After 6 weeks of exercise, the male mouse was mated with its sibling female. After weaning, male pups underwent behavioral assessment (Open field and Morris water maze tests). Immunohistochemistry staining, real time-PCR and western blot were performed to determine hippocampal BDNF and reelin expression of the male pups after behavior tasks. Our results showed that paternal treadmill exercise improved the spatial learning and memory capability of male pups, which was accompanied by significantly increased expression of BDNF and reelin, as compared to those of C group. Our results provide novel evidence that paternal treadmill exercise can enhance the brain functions of their F1 male offspring. PMID:23916757

  10. Women as Mothers and Wives in Paternally Incestuous Families: Coping with Role Conflict.

    ERIC Educational Resources Information Center

    deYoung, Mary

    1994-01-01

    Interviews with 20 women from paternally incestuous families revealed that they felt a moderate degree of conflict between their roles as mother and wife. Strategies for coping with the conflict are categorized (social role redefinition, interpersonal role redefinition, intrapersonal role redefinition, or reactive role behavior) and evaluated in…

  11. Do Paternal Arrest and Imprisonment Lead to Child Behaviour Problems and Substance Use? A Longitudinal Analysis

    ERIC Educational Resources Information Center

    Kinner, Stuart A.; Alati, Rosa; Najman, Jake M.; Williams, Gail M.

    2007-01-01

    Background: 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…

  12. Paternal postnatal depressive symptoms, infant sleeping and feeding behaviors, and rigid parental regulation: a correlational study.

    PubMed

    Cockshaw, Wendell D; Muscat, Tracey; Obst, Patricia L; Thorpe, Karen

    2014-12-01

    Paternal postnatal depression (PND) is now recognized as a serious and prevalent problem, associated with poorer well-being and functioning of all family members. Aspects of infant temperament, sleeping and feeding perceived by parents as problematic are associated with maternal PND, however, less is known about paternal PND. This study investigated depressive symptoms (Edinburgh postnatal depression scale (EPDS)) in 219 fathers of infants aged from 1 to 24 weeks (median 7.0 weeks). Infant predictor variables were sleeping problems, feeding problems and both mother and father reported temperament. Control variables were partner's support, other support and life events. Rigidity of parenting beliefs regarding infant regulation was also measured as a potential moderating factor. Infant feeding difficulties were associated with paternal depressive symptoms, subsuming the variance associated with both sleep problems and temperament. This relationship was not moderated by regulation beliefs. It was concluded that infant feeding is important to fathers. Fathers of infants with feeding difficulties may not be able to fulfill their idealized construction of involved fatherhood. Role incongruence may have an etiological role in paternal PND.

  13. Paternal and maternal warmth and the development of prosociality among preschoolers.

    PubMed

    Daniel, Ella; Madigan, Sheri; Jenkins, Jennifer

    2016-02-01

    Although the influence of maternal behavior on child outcomes has been extensively studied, there has not been the same attention to the role of paternal behavior in development. This gap in research stands in contrast to the observable shift in parental roles and responsibilities in contemporary society. The goal of this study was to examine the roles of fathers, mothers, and children in the development of children's prosocial behavior. In the current study we examined the development of reciprocal relations between paternal and maternal behavior and child prosociality over 36 months. Three hundred eighty-one families were assessed when children were 18, 36, and 54 months of age. Fathers and mothers reported on their own warmth and negativity using standardized questionnaires. Child prosociality was measured using averaged parental reports. Actor-partner interdependence models revealed that paternal and maternal warmth predicted subsequent increases in child prosocial behavior, but child prosocial behavior did not predict subsequent parenting. Father and mother parenting practices were reciprocally interrelated. The results point to the important roles paternal and maternal warmth play in the development of children's prosocial behavior.

  14. Early Determinants of Maternal and Paternal Harsh Discipline: The Generation R Study

    ERIC Educational Resources Information Center

    Jansen, Pauline W.; Raat, Hein; Mackenbach, Johan P.; Hofman, Albert; Jaddoe, Vincent W. V.; Bakermans-Kranenburg, M. J.; van IJzendoorn, M. H.; Verhulst, Frank C.; Tiemeier, Henning

    2012-01-01

    Research described risk factors for maternal use of harsh discipline, but knowledge about determinants of paternal harsh discipline is lacking. This study aimed to identify determinants of harsh discipline and whether this differed between mothers and fathers. Harsh disciplining practices were self-reported by Dutch parents of 3-year-old children.…

  15. 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.

  16. Prescription of Protective Paternalism for Men in Romantic and Work Contexts

    ERIC Educational Resources Information Center

    Sarlet, Marie; Dumont, Muriel; Delacollette, Nathalie; Dardenne, Benoit

    2012-01-01

    Behavioral prescription specifies how people ought to act. Five studies investigated prescription for men of protective paternalism, a particular form of benevolent sexism, depending on contextual and individual factors. In Studies 1 and 2, female participants prescribed for men more protective paternalistic behavior toward women in a romantic…

  17. Paternal Depression and Risk for Child Neglect in Father-Involved Families of Young Children

    ERIC Educational Resources Information Center

    Lee, Shawna J.; Taylor, Catherine A.; Bellamy, Jennifer L.

    2012-01-01

    Objective: To examine the association of paternal depression with risk for parental neglect of young children. Study design: The sample was derived from a birth cohort study of 1,089 families in which both biological parents resided in the home when the target child was 3- and 5-years old. Prospective analyses examined the contribution of paternal…

  18. Costs of pair-bonding and paternal care in male prairie voles (Microtus ochrogaster)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The direct costs of paternal care are relatively well documented in primates, however little research has explored these effects in monogamous rodents. The present study examines the long-term effects that pairing and parenting have on male prairie voles. We hypothesized that there would be a signif...

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

    SciTech Connect

    Marchetti, Francesco; Bishop, Jack; Lowe, Xiu; Wyrobek, Andrew J

    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-cell 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.

  20. Length of paternal lifespan is manifested in the DNA methylome of their nonagenarian progeny.

    PubMed

    Marttila, Saara; Kananen, Laura; Jylhävä, Juulia; Nevalainen, Tapio; Hervonen, Antti; Jylhä, Marja; Hurme, Mikko

    2015-10-13

    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.

  1. Academic Stressors and Anxiety in Children: The Role of Paternal Support

    ERIC Educational Resources Information Center

    Leung, Grace S. M.; Yeung, K. C.; Wong, Daniel F. K.

    2010-01-01

    We examined the role of paternal support in the relation between academic stress and the mental health of primary school children in Hong Kong. The participants of this cross-sectional study were 1,171 fifth and sixth graders. The results indicated that academic stress was a risk factor that heightened student anxiety levels and that parental…

  2. How to overcome male infertility after 40: Influence of paternal age on fertility.

    PubMed

    Belloc, Stephanie; Hazout, Andre; Zini, Armand; Merviel, Philippe; Cabry, Rosalie; Chahine, Hikmat; Copin, Henri; Benkhalifa, Moncef

    2014-05-01

    The recent trend toward delayed parenthood raises major safety concerns because of the adverse effects of aging on couple fertility. Studies have demonstrated that aging clearly affects female fertility, but can also affect male fertility. Although several theories have been proposed, the exact mechanisms responsible for the observed age-related decline in male fertility remain to be elucidated. It has been shown that advanced paternal age (PA) is associated with reduced semen volume as well as, reduced sperm count, motility and morphology. Recent studies have also reported that paternal aging is associated with a significant increase in the prevalence of both genomic and epigenomic sperm defects. In the context of natural and intrauterine insemination (IUI) conception, advanced paternal age has been associated with lower pregnancy rates and increased rates of spontaneous abortion (independent of maternal age). In IVF and oocyte donation programs, a significant decrease in late blastocyst development has been seen in those cycles using spermatozoa of men older than 55. However, no significant relationship between paternal age and IVF or ICSI pregnancy rates has been observed. Although there are no treatments that can fully restore the age-related decline in male fertility, various measures have been shown to optimize male fertility potential. Specific therapies (e.g. varicocelectomy) and lifestyle changes (e.g. dietary antioxidant supplements) may help minimize some of the age-related deleterious effects on spermatogenesis, such as, oxidative stress and endocrine abnormalities. PMID:24680129

  3. Paternal Involvement in Multisystemic Therapy: Effects on Adolescent Outcomes and Maternal Depression

    ERIC Educational Resources Information Center

    Gervan, Shannon; Granic, Isabela; Solomon, Tracy; Blokland, Kirsten; Ferguson, Bruce

    2012-01-01

    The association between paternal involvement in therapy, adolescent outcomes and maternal depression was examined within the context of Multisystemic Therapy (MST), an empirically supported, family- and community-based treatment for antisocial adolescents. Ninety-nine families were recruited from five mental health agencies providing MST. We…

  4. The Effect of Cumulative Risk on Paternal Engagement: Examining Differences among Adolescent and Older Couples

    ERIC Educational Resources Information Center

    Farrie, Danielle; Lee, Yookyong; Fagan, Jay

    2011-01-01

    This study examined the association between fathers' and mothers' risk factors and paternal engagement 1 and 3 years postbirth. Distinguishing between new and persistent risk factors, we tested whether cumulative risk has unique effects on couples where one or both parents are adolescents at birth. Results indicated that although fathers' and…

  5. Paternal Depression in the Postnatal Period and Early Father–Infant Interactions

    PubMed Central

    Sethna, Vaheshta; Murray, Lynne; Netsi, Elena; Psychogiou, Lamprini; Ramchandani, Paul G.

    2015-01-01

    SYNOPSIS Objective. Paternal depressive disorder is associated with adverse effects on child development. One possible mechanism for this is through the effects of the disorder on parenting capacities. The link between paternal depression and father–infant interactions was investigated at three-months postpartum. Design. Major depressive disorder was assessed in N = 192 fathers using a structured clinical interview (SCID). Altogether, 54 fathers met criteria for depression, and 99 fathers were categorized as non-depressed. Observational assessments of face-to-face father–infant interactions were conducted in an infant-seat setting and a floor-mat setting. Associations between paternal depression and father–infant interactions were analyzed. Results. Paternal depression is associated with more withdrawn parental behavior in interactions on the floor-mat. There were few other differences in observed interaction between depressed and non-depressed fathers. Conclusions. Fathers with depression may be more withdrawn, displaying less verbal and behavioral stimulation during interactions with their young infants. They may initiate a pattern of parenting that remains compromised, potentially affecting their children’s development. PMID:25745364

  6. Fetal Effects of Maternal/Paternal Alcohol and Other Drug Use: Abstracts of Selected Articles.

    ERIC Educational Resources Information Center

    Laws, Kathy; And Others

    This publication includes abstracts of 45 articles published in recent years on the effects of maternal and paternal alcohol and other drug use on the fetus; prevention and intervention programs; and teaching strategies to be used with prenatally drug-exposed children. While not an exhaustive list of available research on these topics, this review…

  7. Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques.

    PubMed

    Widdig, A; Nürnberg, P; Krawczak, M; Streich, W J; Bercovitch, F B

    2001-11-20

    Kin selection promotes the evolution of social behavior that increases the survival and reproductive success of close relatives. Among primates, maternal kinship frequently coincides with a higher frequency of grooming and agonistic aiding, but the extent to which paternal kinship influences adult female social relationships has not yet been investigated. Here, we examine the effect of both maternal and paternal kinship, as well as age proximity, on affiliative interactions among semifree-ranging adult female rhesus macaques, Macaca mulatta. Kinship was assessed by using both microsatellites and DNA-fingerprinting. Our study confirms that the closest affiliative relationships characterize maternal half-sisters. We provide evidence that adult females are significantly more affiliative with paternal half-sisters than with nonkin. Furthermore, paternal kin discrimination was more pronounced among peers than among nonpeers, indicating that age proximity has an additional regulatory effect on affiliative interactions. We propose that kin discrimination among cercopithecine primates emerges from ontogenetic processes that involve phenotype matching based on shared behavioral traits, such as inherited personality profiles, rather than physiological or physical characteristics.

  8. Maternal and Paternal Age Are Jointly Associated with Childhood Autism in Jamaica

    ERIC Educational Resources Information Center

    Rahbar, Mohammad H.; 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

    2012-01-01

    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…

  9. Paternal influences on infant temperament: effects of father internalizing problems, parenting-related stress, and temperament.

    PubMed

    Potapova, Natalia V; Gartstein, Maria A; Bridgett, David J

    2014-02-01

    Temperament ratings were obtained from 98 fathers when their infants were 4 and 6 months of age to examine effects of paternal characteristics on infant temperament. Parental stress, internalizing symptoms, and father's temperament were considered as factors possibly contributing to differences in their child's temperament.

  10. 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…

  11. Paternity testing using microsatellite DNA markers in captive Adélie penguins (Pygoscelis adeliae).

    PubMed

    Sakaoka, Ken; Suzuki, Isao; Kasugai, Naeko; Fukumoto, Yohei

    2014-01-01

    We investigated the paternity of 39 Adélie penguins (Pygoscelis adeliae) hatched at the Port of Nagoya Public Aquarium between 1995 and 2005 breeding seasons using microsatellite DNA markers. Among the 13 microsatellite marker loci tested in this study, eight markers amplified and were found to be polymorphic in the colony's founders of the captive population (n = 26). Multiple marker analysis confirmed that all the hatchlings shared alleles with their social fathers and that none of them were sired by any male (all males ≥4 years old in the exhibit tank during each reproductive season; n = 9-15) other than the one carrying out parental duties, except in the case of two inbred hatchlings whose half-sibling parents shared the same father. These results demonstrated that extra-pair paternity (EPP) did not occur in this captive population and that even if EPP has been detected among them, the probability of excluding all other possible fathers in the exhibit tank is extremely high based on paternity exclusion probabilities across the investigated loci. The paternity exclusion probabilities were almost the same between 1994 and 2005. The probability of identity across the investigated loci declined between the two time points, but was still high. These results are reflected in a very short history of breeding in this captive population. In other words, the parentage analyses using a suite of microsatellite markers will be less effective as generations change in small closed populations, such as zoo and aquarium populations.

  12. Distinct preoptic-BST nuclei dissociate paternal and infanticidal behavior in mice.

    PubMed

    Tsuneoka, Yousuke; Tokita, Kenichi; Yoshihara, Chihiro; Amano, Taiju; Esposito, Gianluca; Huang, Arthur J; Yu, Lily M Y; Odaka, Yuri; Shinozuka, Kazutaka; McHugh, Thomas J; Kuroda, Kumi O

    2015-11-01

    Paternal behavior is not innate but arises through social experience. After mating and becoming fathers, male mice change their behavior toward pups from infanticide to paternal care. However, the precise brain areas and circuit mechanisms connecting these social behaviors are largely unknown. Here we demonstrated that the c-Fos expression pattern in the four nuclei of the preoptic-bed nuclei of stria terminalis (BST) region could robustly discriminate five kinds of previous social behavior of male mice (parenting, infanticide, mating, inter-male aggression, solitary control). Specifically, neuronal activation in the central part of the medial preoptic area (cMPOA) and rhomboid nucleus of the BST (BSTrh) retroactively detected paternal and infanticidal motivation with more than 95% accuracy. Moreover, cMPOA lesions switched behavior in fathers from paternal to infanticidal, while BSTrh lesions inhibited infanticide in virgin males. The projections from cMPOA to BSTrh were largely GABAergic. Optogenetic or pharmacogenetic activation of cMPOA attenuated infanticide in virgin males. Taken together, this study identifies the preoptic-BST nuclei underlying social motivations in male mice and reveals unexpected complexity in the circuit connecting these nuclei. PMID:26423604

  13. Paternal postnatal depressive symptoms, infant sleeping and feeding behaviors, and rigid parental regulation: a correlational study.

    PubMed

    Cockshaw, Wendell D; Muscat, Tracey; Obst, Patricia L; Thorpe, Karen

    2014-12-01

    Paternal postnatal depression (PND) is now recognized as a serious and prevalent problem, associated with poorer well-being and functioning of all family members. Aspects of infant temperament, sleeping and feeding perceived by parents as problematic are associated with maternal PND, however, less is known about paternal PND. This study investigated depressive symptoms (Edinburgh postnatal depression scale (EPDS)) in 219 fathers of infants aged from 1 to 24 weeks (median 7.0 weeks). Infant predictor variables were sleeping problems, feeding problems and both mother and father reported temperament. Control variables were partner's support, other support and life events. Rigidity of parenting beliefs regarding infant regulation was also measured as a potential moderating factor. Infant feeding difficulties were associated with paternal depressive symptoms, subsuming the variance associated with both sleep problems and temperament. This relationship was not moderated by regulation beliefs. It was concluded that infant feeding is important to fathers. Fathers of infants with feeding difficulties may not be able to fulfill their idealized construction of involved fatherhood. Role incongruence may have an etiological role in paternal PND. PMID:25268282

  14. Paternal and maternal warmth and the development of prosociality among preschoolers.

    PubMed

    Daniel, Ella; Madigan, Sheri; Jenkins, Jennifer

    2016-02-01

    Although the influence of maternal behavior on child outcomes has been extensively studied, there has not been the same attention to the role of paternal behavior in development. This gap in research stands in contrast to the observable shift in parental roles and responsibilities in contemporary society. The goal of this study was to examine the roles of fathers, mothers, and children in the development of children's prosocial behavior. In the current study we examined the development of reciprocal relations between paternal and maternal behavior and child prosociality over 36 months. Three hundred eighty-one families were assessed when children were 18, 36, and 54 months of age. Fathers and mothers reported on their own warmth and negativity using standardized questionnaires. Child prosociality was measured using averaged parental reports. Actor-partner interdependence models revealed that paternal and maternal warmth predicted subsequent increases in child prosocial behavior, but child prosocial behavior did not predict subsequent parenting. Father and mother parenting practices were reciprocally interrelated. The results point to the important roles paternal and maternal warmth play in the development of children's prosocial behavior. PMID:26301515

  15. Paternal overweight is associated with increased breast cancer risk in daughters in a mouse model

    PubMed Central

    Fontelles, Camile Castilho; Carney, Elissa; Clarke, Johan; Nguyen, Nguyen M.; Yin, Chao; Jin, Lu; Cruz, M. Idalia; Ong, Thomas Prates; Hilakivi-Clarke, Leena; de Assis, Sonia

    2016-01-01

    While many studies have shown that maternal weight and nutrition in pregnancy affects offspring’s breast cancer risk, no studies have investigated the impact of paternal body weight on daughters’ risk of this disease. Here, we show that diet-induced paternal overweight around the time of conception can epigenetically reprogram father’s germ-line and modulate their daughters’ birth weight and likelihood of developing breast cancer, using a mouse model. Increased body weight was associated with changes in the miRNA expression profile in paternal sperm. Daughters of overweight fathers had higher rates of carcinogen-induced mammary tumors which were associated with delayed mammary gland development and alterations in mammary miRNA expression. The hypoxia signaling pathway, targeted by miRNAs down-regulated in daughters of overweight fathers, was activated in their mammary tissues and tumors. This study provides evidence that paternal peri-conceptional body weight may affect daughters’ mammary development and breast cancer risk and warrants further studies in other animal models and humans. PMID:27339599

  16. Paternal Correlates of Cognitive and Behavioral Functioning in Children with Myelomeningocele

    ERIC Educational Resources Information Center

    Wohlfeiler, Melissa M.; Macias, Michelle M.; Saylor, Conway F.

    2008-01-01

    This study examined paternal correlates of the cognitive and behavioral functioning of children with myelomeningocele, when controlling for maternal and biological/child correlates as possible sources of variance. Participants were 48 parent dyads of children with myelomeningocele (21 males, 27 females) between the ages of 4 and 12 years (mean 8y,…

  17. Determinants of Adolescent Perceptions of Maternal and Paternal Power in the Family.

    ERIC Educational Resources Information Center

    McDonald, Gerald W.

    1979-01-01

    Tests the viability of resource theory for explaining adolescent perceptions of parental power. Regression analyses support the resource theory approach. Findings show those potential determinant variables taken together are less influential for adolescent perceptions of maternal than paternal power. Parental power perceptions are not sex-linked…

  18. Paternal/Maternal Attachment, Peer Support, Social Expectations of Peer Interaction, and Depressive Symptoms

    ERIC Educational Resources Information Center

    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…

  19. Modeling the Dynamics of Paternal Influences on Children over the Life Course

    ERIC Educational Resources Information Center

    Cabrera, Natasha; Fitzgerald, Hiram E.; Bradley, Robert H.; Roggman, Lori

    2007-01-01

    Modeling the Dynamics of Paternal Influences on Children over the Life Course Is a heuristic model, which identifies sets of variables that predict father involvement, variables that interact to predict involvement, and variables that influence father characteristics and thereby influence involvement. It also suggests moderators and mediators of…

  20. Paternal treadmill exercise enhances spatial learning and memory related to hippocampus among male offspring.

    PubMed

    Yin, M M; Wang, W; Sun, J; Liu, S; Liu, X L; Niu, Y M; Yuan, H R; Yang, F Y; Fu, L

    2013-09-15

    Both epidemiologic and laboratory studies suggest that parents can shape their offspring's development. Recently, it has been shown that maternal exercise during pregnancy benefits the progeny's brain function. However, little is known regarding the influence of paternal exercise on their offspring's phenotype. In this study we attempt to determine the effects of 6 weeks paternal treadmill exercise on spatial learning and memory and the expression of brain-derived neurotrophic factor (BDNF) and reelin in their male offspring. Sibling males were divided into two groups: the control (C) and the exercise group (E). The mice in the E group were exercised on a motor-driven rodent treadmill for 5 days per week for 6 weeks. After 6 weeks of exercise, the male mouse was mated with its sibling female. After weaning, male pups underwent behavioral assessment (Open field and Morris water maze tests). Immunohistochemistry staining, real time-PCR and western blot were performed to determine hippocampal BDNF and reelin expression of the male pups after behavior tasks. Our results showed that paternal treadmill exercise improved the spatial learning and memory capability of male pups, which was accompanied by significantly increased expression of BDNF and reelin, as compared to those of C group. Our results provide novel evidence that paternal treadmill exercise can enhance the brain functions of their F1 male offspring.

  1. Paternal overweight is associated with increased breast cancer risk in daughters in a mouse model.

    PubMed

    Fontelles, Camile Castilho; Carney, Elissa; Clarke, Johan; Nguyen, Nguyen M; Yin, Chao; Jin, Lu; Cruz, M Idalia; Ong, Thomas Prates; Hilakivi-Clarke, Leena; de Assis, Sonia

    2016-01-01

    While many studies have shown that maternal weight and nutrition in pregnancy affects offspring's breast cancer risk, no studies have investigated the impact of paternal body weight on daughters' risk of this disease. Here, we show that diet-induced paternal overweight around the time of conception can epigenetically reprogram father's germ-line and modulate their daughters' birth weight and likelihood of developing breast cancer, using a mouse model. Increased body weight was associated with changes in the miRNA expression profile in paternal sperm. Daughters of overweight fathers had higher rates of carcinogen-induced mammary tumors which were associated with delayed mammary gland development and alterations in mammary miRNA expression. The hypoxia signaling pathway, targeted by miRNAs down-regulated in daughters of overweight fathers, was activated in their mammary tissues and tumors. This study provides evidence that paternal peri-conceptional body weight may affect daughters' mammary development and breast cancer risk and warrants further studies in other animal models and humans. PMID:27339599

  2. Pentatricopeptide repeat 336 as the candidate gene for paternal sorting of mitochondria (Psm) in cucumber

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cucumber (Cucumis sativus L.) is a useful plant to study organellar-nuclear interactions because its three genomes show differential transmission: bi-parental nuclear, maternal chloroplast and paternal mitochondrial (mt). The mt DNA of cucumber is relatively large due in part to accumulation of rep...

  3. Reflecting on the Father: Childhood Family Structure and Women's Paternal Relationships

    ERIC Educational Resources Information Center

    Krampe, Edythe M.; Newton, Rae R.

    2012-01-01

    The researchers examined childhood family structure, age, and race/ethnicity as correlates of paternal relationships using the Father Presence Questionnaire. The sample consisted of 788 adult women aged 18 to 88 years from ethnically diverse backgrounds. The most consistent finding was the effect of family structure on participants' evaluations of…

  4. "I've Fixed Things Up": Paternal Identity of Substance-Dependent Fathers

    ERIC Educational Resources Information Center

    Peled, Einat; Gavriel-Fried, Belle; Katz, Noam

    2012-01-01

    This study deals with how substance-dependent men perceive their paternal identity. Data were based on in-depth semi-structured interviews with 12 Israeli fathers who were enrolled in methadone maintenance treatment. Content analysis revealed that participants had undergone a process of parental identity formation composed of four distinct stages:…

  5. Children's Rights, "die Antipadagogen," and the Paternalism of John Stuart Mill.

    ERIC Educational Resources Information Center

    Nordenbo, Sven Erik

    1987-01-01

    Mill's liberty principle and the children's rights movement ("die Antipadagogen") are discussed in terms of Mill's attitude of paternalism in children's education. Mill contends that the individual liberty of children must be limited for their own good. Proponents of educational liberalism are not justified in claiming Mill as a spokesperson. (TJH)

  6. Distinct preoptic-BST nuclei dissociate paternal and infanticidal behavior in mice.

    PubMed

    Tsuneoka, Yousuke; Tokita, Kenichi; Yoshihara, Chihiro; Amano, Taiju; Esposito, Gianluca; Huang, Arthur J; Yu, Lily M Y; Odaka, Yuri; Shinozuka, Kazutaka; McHugh, Thomas J; Kuroda, Kumi O

    2015-11-01

    Paternal behavior is not innate but arises through social experience. After mating and becoming fathers, male mice change their behavior toward pups from infanticide to paternal care. However, the precise brain areas and circuit mechanisms connecting these social behaviors are largely unknown. Here we demonstrated that the c-Fos expression pattern in the four nuclei of the preoptic-bed nuclei of stria terminalis (BST) region could robustly discriminate five kinds of previous social behavior of male mice (parenting, infanticide, mating, inter-male aggression, solitary control). Specifically, neuronal activation in the central part of the medial preoptic area (cMPOA) and rhomboid nucleus of the BST (BSTrh) retroactively detected paternal and infanticidal motivation with more than 95% accuracy. Moreover, cMPOA lesions switched behavior in fathers from paternal to infanticidal, while BSTrh lesions inhibited infanticide in virgin males. The projections from cMPOA to BSTrh were largely GABAergic. Optogenetic or pharmacogenetic activation of cMPOA attenuated infanticide in virgin males. Taken together, this study identifies the preoptic-BST nuclei underlying social motivations in male mice and reveals unexpected complexity in the circuit connecting these nuclei.

  7. The Role of Value Priorities in Paternal and Maternal Involvement in Child Care

    ERIC Educational Resources Information Center

    Gaunt, Ruth

    2005-01-01

    This study used the theory of human values to explore parents' involvement with their children. The relationships between maternal and paternal value priorities and various forms of involvement in child care were examined in a sample of 209 couples with 1 child between 6 and 36 months of age. As predicted, giving high priority to…

  8. Paternal Lake Ontario fish consumption and risk of conception delay, New York State Angler Cohort.

    PubMed

    Buck, G M; Mendola, P; Vena, J E; Sever, L E; Kostyniak, P; Greizerstein, H; Olson, J; Stephen, F D

    1999-02-01

    The aquatic ecosystems of the Great Lakes are contaminated with a variety of compounds, some of which are considered reproductive toxicants. Few studies of paternal fish consumption and reproductive endpoints have been undertaken and serve as the impetus for study. Standardized telephone interviews were conducted with 2445 female members of the New York State Angler Cohort (82% response) to update reproductive profiles and to ascertain specific information on time-to-pregnancy (TTP). The study sample includes women with a known TTP and paternal fish consumption data (n=785). Conception delay was defined as more than 12 cycles of unprotected intercourse to achieve pregnancy. Paternal fish consumption was assessed by three measures: frequency of Lake Ontario sport fish meals in 1991, numbers of years eating fish, and estimated PCB exposure from fish consumption. Adjusted ORs for number of fish meals, based on logistic regression, ranged from 0.69 to 0.80; from 0.61 to 0.82 for number of years eating fish; and from 0.44 to 1.14 for quartiles of estimated PCB exposure from fish consumption. All confidence intervals included one. These findings suggest that, based on paternal self-reports, Lake Ontario fish consumption does not increase the risk of conception delay.

  9. Influence of paternal preconception exposures on their offspring: through epigenetics to phenotype

    PubMed Central

    Day, Jonathan; Savani, Soham; Krempley, Benjamin D; Nguyen, Matthew; Kitlinska, Joanna B

    2016-01-01

    Historically, research into congenital defects has focused on maternal impacts on the fetal genome during gestation and prenatal periods. However, recent findings have sparked interest in epigenetic alterations of paternal genomes and its effects on offspring. This emergent field focuses on how environmental influences can epigenetically alter gene expression and ultimately change the phenotype and behavior of progeny. There are three primary mechanisms implicated in these changes: DNA methylation, histone modification, and miRNA expression. This paper provides a summary and subsequent review of past research, which highlights the significant impact of environmental factors on paternal germ cells during the lifetime of an individual as well as those of future generations. These findings support the existence of transgenerational epigenetic inheritance of paternal experiences. Specifically, we explore epidemiological and laboratory studies that demonstrate possible links between birth defects and paternal age, environmental factors, and alcohol consumption. Ultimately, our review highlights the clinical importance of these factors as well as the necessity for future research in the field. PMID:27335698

  10. Paternal Lake Ontario fish consumption and risk of conception delay, New York state angler cohort

    SciTech Connect

    Buck, G.M.; Mendola, P.; Vena, J.E.; Kostyniak, P.; Greizerstein, H.; Olson, J.; Stephen, F.D.; Sever, L.E.

    1999-02-01

    The aquatic ecosystems of the Great Lakes are contaminated with a variety of compounds, some of which are considered reproductive toxicants. Few studies of paternal fish consumption and reproductive endpoints have been undertaken and serve as the impetus for study. Standardized telephone interviews were conducted with 2,445 female members of the New York State Angler Cohort (82% response) to update reproductive profiles and to ascertain specific information on time-to-pregnancy (TTP). The study sample includes women with a known TTP and paternal fish consumption data (n = 785). Conception delay was defined as more than 12 cycles of unprotected intercourse to achieve pregnancy. Paternal fish consumption was assessed by three measures: frequency of Lake Ontario sport fish meals in 1991, numbers of years eating fish, and estimated PCB exposure from fish consumption. Adjusted ORs for number of fish meals, based on logistic regression, ranged from 0.69 to 0.80; from 0.61 to .82 for number of years eating fish; and from 0.44 to 1.14 for quartiles of estimated PCB exposure from fish consumption. All confidence intervals included one. These findings suggest that, based on paternal self-reports, Lake Ontario fish consumption does not increase the risk of conception delay.

  11. Observed Paternal Behavior and the Intellectual Functioning of Preschool Boys and Girls.

    ERIC Educational Resources Information Center

    Radin, Norma; Epstein, Ann

    To assess the relationship between paternal behavior and the intellectual functioning of preschool boys and girls, 180 white fathers from middle, working, and lower classes (as defined by the Hollingshead-Redlich Scale) were observed at home interacting with their 4-year-olds (99 boys and 81 girls). Sessions were tape-recorded. The number of…

  12. Molecular and Clinical Aspects of Angelman Syndrome

    PubMed Central

    Dagli, A.; Buiting, K.; Williams, C.A.

    2012-01-01

    The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other conditions involving severe developmental handicap. Accurate diagnosis rests on a combination of clinical criteria and molecular and/or cytogenetic testing. Analysis of parent-specific DNA methylation imprints in the critical 15q11.2–q13 genomic region identifies 75–80% of all individuals with the syndrome, including those with cytogenetic deletions, imprinting center defects and paternal uniparental disomy. In the remaining group, UBE3A sequence analysis identifies an additional percentage of patients, but 5–10% will remain who appear to have the major clinical phenotypic features but do not have any identifiable genetic abnormalities. Genetic counseling for recurrence risk is complicated because multiple genetic mechanisms can disrupt the UBE3A gene, and there is also a unique inheritance pattern associated with UBE3A imprinting. Angelman syndrome is a prototypical developmental syndrome due to its remarkable behavioral phenotype and because UBE3A is so crucial to normal synaptic function and neural plasticity. PMID:22670133

  13. MIDD or MELAS : that's not the question MIDD evolving into MELAS : a severe phenotype of the m.3243A>G mutation due to paternal co-inheritance of type 2 diabetes and a high heteroplasmy level.

    PubMed

    de Wit, H M; Westeneng, H J; van Engelen, B G M; Mudde, A H

    2012-12-01

    Maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) are different syndromes, but are caused by the same m.3243A>G mutation in mitochondrial DNA. Why some patients develop MIDD while others MELAS is unknown, but may be related to heteroplasmy level. Progression from MIDD to MELAS has not been described. Here we report a patient with MIDD who over time developed severe insulin resistance and symptoms and signs consistent with MELAS. The most likely explanation here was paternal co-inheritance of type 2 diabetes in combination with a high heteroplasmy level. The present case showing evolution of MIDD to MELAS supports the concept that both syndromes can be regarded as two phenotypes of the same disease.

  14. Paternal benzo[a]pyrene exposure affects gene expression in the early developing mouse embryo.

    PubMed

    Brevik, Asgeir; Lindeman, Birgitte; Rusnakova, Vendula; Olsen, Ann-Karin; Brunborg, Gunnar; Duale, Nur

    2012-09-01

    The health of the offspring depends on the genetic constitution of the parental germ cells. The paternal genome appears to be important; e.g., de novo mutations in some genes seem to arise mostly from the father, whereas epigenetic modifications of DNA and histones are frequent in the paternal gonads. Environmental contaminants which may affect the integrity of the germ cells comprise the polycyclic aromatic hydrocarbon, benzo[a]pyrene (B[a]P). B[a]P has received much attention due to its ubiquitous distribution, its carcinogenic and mutagenic potential, and also effects on reproduction. We conducted an in vitro fertilization (IVF) experiment using sperm cells from B[a]P-exposed male mice to study effects of paternal B[a]P exposure on early gene expression in the developing mouse embryo. Male mice were exposed to a single acute dose of B[a]P (150 mg/kg, ip) 4 days prior to isolation of cauda sperm, followed by IVF of oocytes from unexposed superovulated mice. Gene expression in fertilized zygotes/embryos was determined using reverse transcription-qPCR at the 1-, 2-, 4-, 8-, and blastocyst cell stages of embryo development. We found that paternal B[a]P exposure altered the expression of numerous genes in the developing embryo especially at the blastocyst stage. Some genes were also affected at earlier developmental stages. Embryonic gene expression studies seem useful to identify perturbations of signaling pathways resulting from exposure to contaminants, and can be used to address mechanisms of paternal effects on embryo development.

  15. Molecular Evidence for High Frequency of Multiple Paternity in a Freshwater Shrimp Species Caridina ensifera

    PubMed Central

    Yue, Gen Hua; Chang, Alex

    2010-01-01

    Background Molecular genetic analyses of parentage provide insights into mating systems. Although there are 22,000 members in Malacostraca, not much has been known about mating systems in Malacostraca. The freshwater shrimp Caridina ensifera blue, is a new species belonging to Malacostraca which was discovered recently in Sulawesi, Indonesia. Due to its small body size and low fecundity, this species is an ideal species to study the occurrence and frequency of multiple paternity and to understand of how the low fecundity species persist and evolve. Methodology/Principal Findings In this study, we developed four polymorphic microsatellites from C. ensifera and applied them to investigate the occurrence and frequency of multiple paternity in 20 C. ensifera broods caught from Lake Matano, Sulawesi. By genotyping the mother and all offspring from each brood we discovered multiple paternity in all 20 broods. In most of the 20 broods, fathers contributed skewed numbers of offspring and there was an apparent inverse correlation between reproductive success of sires and their relatedness to mothers. Conclusions/Significance Our results in combination with recent reports on multiple paternity in crayfish, crab and lobster species suggests that multiple paternity is common in Malacostraca. Skewed contribution of fathers to the numbers of offspring and inverse correlation between reproductive success of sires and their relatedness to mothers suggest that sperm competition occurred and/or pre- and postcopulatory female choice happen, which may be important for avoiding the occurrence of inbreeding and optimize genetic variation in offspring and for persistence and evolution of low fecundity species. PMID:20856862

  16. Offspring's leukocyte telomere length, paternal age, and telomere elongation in sperm.

    PubMed

    Kimura, Masayuki; Cherkas, Lynn F; Kato, Bernet S; Demissie, Serkalem; Hjelmborg, Jacob B; Brimacombe, Michael; Cupples, Adrienne; Hunkin, Janice L; Gardner, Jefferey P; Lu, Xiaobin; Cao, Xiaojian; Sastrasinh, Malinee; Province, Michael A; Hunt, Steven C; Christensen, Kaare; Levy, Daniel; Spector, Tim D; Aviv, Abraham

    2008-02-01

    Leukocyte telomere length (LTL) is a complex genetic trait. It shortens with age and is associated with a host of aging-related disorders. Recent studies have observed that offspring of older fathers have longer LTLs. We explored the relation between paternal age and offspring's LTLs in 4 different cohorts. Moreover, we examined the potential cause of the paternal age on offspring's LTL by delineating telomere parameters in sperm donors. We measured LTL by Southern blots in Caucasian men and women (n=3365), aged 18-94 years, from the Offspring of the Framingham Heart Study (Framingham Offspring), the NHLBI Family Heart Study (NHLBI-Heart), the Longitudinal Study of Aging Danish Twins (Danish Twins), and the UK Adult Twin Registry (UK Twins). Using Southern blots, Q-FISH, and flow-FISH, we also measured telomere parameters in sperm from 46 young (<30 years) and older (>50 years) donors. Paternal age had an independent effect, expressed by a longer LTL in males of the Framingham Offspring and Danish Twins, males and females of the NHLBI-Heart, and females of UK Twins. For every additional year of paternal age, LTL in offspring increased at a magnitude ranging from half to more than twice of the annual attrition in LTL with age. Moreover, sperm telomere length analyses were compatible with the emergence in older men of a subset of sperm with elongated telomeres. Paternal age exerts a considerable effect on the offspring's LTL, a phenomenon which might relate to telomere elongation in sperm from older men. The implications of this effect deserve detailed study. PMID:18282113

  17. Paternal effects correlate with female reproductive stimulation in the polyandrous ladybird Cheilomenes sexmaculata.

    PubMed

    Mirhosseini, M A; Michaud, J P; Jalali, M A; Ziaaddini, M

    2014-08-01

    Components of male seminal fluids are known to stimulate fecundity and fertility in females of numerous insect species and paternal effects on offspring phenotype are also known, but no studies have yet demonstrated links between male effects on female reproduction and those on progeny phenotype. In separate laboratory experiments employing 10-day-old virgin females of Cheilomenes sexmaculata (F.), we varied male age and mating history to manipulate levels of male allomones and found that the magnitude of paternal effects on progeny phenotype was correlated with stimulation of female reproduction. Older virgin males remained in copula longer than younger ones, induced higher levels of female fecundity, and sired progeny that developed faster to yield heavier adults. When male age was held constant (13 days), egg fertility declined as a function of previous male copulations, progeny developmental times increased, and the adult weight of daughters declined. These results suggest that male epigenetic effects on progeny phenotype act in concert with female reproductive stimulation; both categories of effects increased as a consequence of male celibacy (factor accumulation), and diminished as a function of previous matings (factor depletion). Male factors that influence female reproduction are implicated in sexual conflict and parental effects may extend this conflict to offspring phenotype. Whereas mothers control the timing of oviposition events and can use maternal effects to tailor progeny phenotypes to prevailing or anticipated conditions, fathers cannot. Since females remate and dilute paternity in polyandrous systems, paternal fitness will be increased by linking paternal effects to female fecundity stimulation, so that more benefits accrue to the male's own progeny. PMID:24661646

  18. Paternal effects correlate with female reproductive stimulation in the polyandrous ladybird Cheilomenes sexmaculata.

    PubMed

    Mirhosseini, M A; Michaud, J P; Jalali, M A; Ziaaddini, M

    2014-08-01

    Components of male seminal fluids are known to stimulate fecundity and fertility in females of numerous insect species and paternal effects on offspring phenotype are also known, but no studies have yet demonstrated links between male effects on female reproduction and those on progeny phenotype. In separate laboratory experiments employing 10-day-old virgin females of Cheilomenes sexmaculata (F.), we varied male age and mating history to manipulate levels of male allomones and found that the magnitude of paternal effects on progeny phenotype was correlated with stimulation of female reproduction. Older virgin males remained in copula longer than younger ones, induced higher levels of female fecundity, and sired progeny that developed faster to yield heavier adults. When male age was held constant (13 days), egg fertility declined as a function of previous male copulations, progeny developmental times increased, and the adult weight of daughters declined. These results suggest that male epigenetic effects on progeny phenotype act in concert with female reproductive stimulation; both categories of effects increased as a consequence of male celibacy (factor accumulation), and diminished as a function of previous matings (factor depletion). Male factors that influence female reproduction are implicated in sexual conflict and parental effects may extend this conflict to offspring phenotype. Whereas mothers control the timing of oviposition events and can use maternal effects to tailor progeny phenotypes to prevailing or anticipated conditions, fathers cannot. Since females remate and dilute paternity in polyandrous systems, paternal fitness will be increased by linking paternal effects to female fecundity stimulation, so that more benefits accrue to the male's own progeny.

  19. 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.

  20. 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.

  1. Characterisation of the Angelman syndrome critical region

    SciTech Connect

    Gilbert, H.L.; Buxton, J.; Chan, C.T.J.

    1994-09-01

    Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct neurogenetic disorders associated with a deletion of 15q11-13, a region subject to genomic imprinting. The chromosomal deletions are either maternal (AS) or paternal (PWS) in origin. The AS critical region was previously defined by an inherited deletion of approximately 1.5 Mb, encompassing TD3-21, LS6-1 and GABRB3. An individual with classical AS has been identified whose deletion includes LS6-1 but not TD3-21 or GABRB3. Both maternal and paternal methylation patterns at ZNF127, PW71B and SNRPN are present, suggesting that the AS gene itself is a disrupted, rather than imprinting sequences, as proposed recently for some familial cases. Initially, the deletion was detected by (CA)n repeat analysis. Cosmids derived from a 260 kb LS6-1 YAC were then used to confirm the deletion by fluorescence in-situ hybridization (FISH). Neither end cosmid from the YAC is deleted, suggesting that the AS critical region is less than 200 kb. Fragments isolated from the cosmids which span the deletion were used to further delineate the AS critical region by Southern blot analysis. Single copy genomic fragments within this region were then used to search for differential parental methylation patterns and potential coding sequences. We have used cosmids from the region in exon-trapping experiments. Using this combination of approaches, we aim to identify candidate genes for AS.

  2. Syndrome of arachnomelia in Simmental cattle

    PubMed Central

    Buitkamp, Johannes; Luntz, Bernhard; Emmerling, Reiner; Reichenbach, Horst-Dieter; Weppert, Myriam; Schade, Benjamin; Meier, Norbert; Götz, Kay-Uwe

    2008-01-01

    Background The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964–1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia syndrome. The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease. Results The first pathologically confirmed arachnomelia syndrome-cases in the current Simmental population appeared in the year 2005. By 2007, an additional 140 calves with the arachnomelia syndrome were identified. The major pathological findings were malformed bones affecting the head, long bones of the legs and the vertebral column. It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder. Together with the data from experimental matings, the pedigree data support an autosomal recessive mutation being the etiology of the arachnomelia syndrome. The frequency of the mutation in the current population was estimated to be 3.32%. Conclusion We describe the repeated occurrence of the arachnomelia syndrome in Simmental calves. It resembles completely the same defect occurring in the Brown Swiss breed. The mutation became relatively widespread amongst the current population. Therefore, a control system has to be established and it is highly desirable to map the disease and develop a genetic test system. PMID:18828914

  3. 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

  4. De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

    PubMed

    Burrage, Lindsay C; Person, Richard E; Flores, Angela; Villanos, Maria Theresa M; Bi, Weimin; Wiszniewska, Joanna; Bacino, Carlos A

    2012-10-01

    Prader-Willi syndrome is caused by the lack of paternal contribution for the imprinted 15q11-q13 region that originates through a number of mechanisms such as paternal deletion of 15q11-q13, maternal uniparental disomy, or by an imprinting defect due to epimutations in the paternal imprinting center. In the present report, we describe a female patient with complex maternal uniparental trisomy for the 15q11-q13 Prader-Willi syndrome critical region due to a de novo interstitial duplication of 15q11-q13 region that is present in one of the maternal homologs. As a result, the patient has three maternally derived copies of the Prader-Willi syndrome critical region and absence of paternal 15 contribution and thus, presents with a Prader-Willi syndrome phenotype with risk for developing additional phenotypes (e.g., autism and psychiatric phenotypes) characteristic of maternally derived duplications of this region. We suggest that this is a rather unique mechanism leading to Prader-Willi syndrome that has not been previously reported.

  5. An Investigation Of The Use Of Song And Territory Defense In Paternity Guarding Behavior Of The Carolina Wren

    NASA Astrophysics Data System (ADS)

    Ramon, P.; Neudorf, D. L.

    2005-05-01

    A banded population of Carolina Wrens (Thryothorus ludovicianus) was observed at Sam Houston State University's Center for Biological Field Studies in Walker Co., Texas to determine if males use paternity guarding behavior. Paternity guards are used by males to prevent the loss of paternity due to copulations that occur outside of the pair bond i.e. extra-pair copulations (EPC's). Song behavior and territory size were quantified over the breeding cycle for 5 males. Males sang at higher rates when their mates were fertile (nest building and egg laying stages) than when their mates were nonfertile (incubation and nestling stages). Males also defended larger territories during their mates' fertile stages. The results are suggestive of a paternity guard function for song and territory defense in the Carolina Wren.

  6. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea

    SciTech Connect

    Hoeglund, P.; Holmberg, C.; Chapelle, A. de la; Kere, J.

    1994-10-01

    Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. Alternatively, although less likely, all these patients may be homozygous for a rare recessive mutation. Here we report both paternal isodisomy for chromosome 7 and normal growth in a patient with a recessive disorder, congenital chloride diarrhea. She had inherited only paternal alleles at 10 loci and was homozygous for another 10 chromosome 7 loci studied. Her physical status and laboratory tests were normal except for a mild high-frequency sensorineural hearing loss. As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth. 38 refs., 2 figs., 1 tab.

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

    PubMed Central

    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

    2012-01-01

    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. PMID

  8. 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

  9. Who's your nanny? Choice, paternalism and public health in the age of personal responsibility.

    PubMed

    Wiley, Lindsay F; Berman, Micah L; Blanke, Doug

    2013-03-01

    A belief that the government does (and should) have broad authority to protect and improve health, coupled with an understanding that collective action is often necessary to address public health challenges effectively, is central to the public health mindset. But many are questioning whether this vision of a strong government role is applicable to non-communicable disease threats and the social determinants of health. Arguments about public health paternalism are playing a role in political opposition to new law and policy interventions and in legal challenges aimed at striking down existing public health laws. This article explores the forces behind the cultural and political resonance of concerns about public health paternalism, "personal responsibility," and the "nanny state" and attempts to outlines a potential path forward from here. PMID:23590750

  10. Evidence of multiple paternity in Morelet's Crocodile (Crocodylus moreletii) in Belize, CA, inferred from microsatellite markers.

    PubMed

    McVay, John D; Rodriguez, David; Rainwater, Thomas R; Dever, Jennifer A; Platt, Steven G; McMurry, Scott T; Forstner, Michael R J; Densmore, Llewellyn D

    2008-12-01

    Microsatellite data were generated from hatchlings collected from ten nests of Morelet's Crocodile (Crocodylus moreletii) from New River Lagoon and Gold Button Lagoon in Belize to test for evidence of multiple paternity. Nine microsatellite loci were genotyped for 188 individuals from the 10 nests, alongside 42 nonhatchlings from Gold Button Lagoon. Then mitochondrial control region sequences were generated for the nonhatchlings and for one individual from each nest to test for presence of C. acutus-like haplotypes. Analyses of five of the nine microsatellite loci revealed evidence that progeny from five of the ten nests were sired by at least two males. These data suggest the presence of multiple paternity as a mating strategy in the true crocodiles. This information may be useful in the application of conservation and management techniques to the 12 species in this genus, most of which are threatened or endangered. PMID:18831002

  11. Transgenerational inheritance of heart disorders caused by paternal bisphenol A exposure.

    PubMed

    Lombó, Marta; Fernández-Díez, Cristina; González-Rojo, Silvia; Navarro, Claudia; Robles, Vanesa; Herráez, María Paz

    2015-11-01

    Bisphenol A (BPA) is an endocrine disruptor used in manufacturing of plastic devices, resulting in an ubiquitous presence in the environment linked to human infertility, obesity or cardiovascular diseases. Both transcriptome and epigenome modifications lie behind these disorders that might be inherited transgenerationally when affecting germline. To assess potential effects of paternal exposure on offspring development, adult zebrafish males were exposed to BPA during spermatogenesis and mated with non-treated females. Results showed an increase in the rate of heart failures of progeny up to the F2, as well as downregulation of 5 genes involved in cardiac development in F1 embryos. Moreover, BPA causes a decrease in F0 and F1 sperm remnant mRNAs related to early development. Results reveal a paternal inheritance of changes in the insulin signaling pathway due to downregulation of insulin receptor β mRNAs, suggesting a link between BPA male exposure and disruption of cardiogenesis in forthcoming generations. PMID:26322593

  12. Paternal Psychopathology and Maternal Depressive Symptom Trajectory During the First Year Postpartum

    PubMed Central

    Zerbe, Gary O.; Hunter, Sharon K.; Ross, Randal G.

    2013-01-01

    Understanding parental psychopathology interaction is important in preventing negative family outcomes. This study investigated the effect of paternal psychiatric history on maternal depressive symptom trajectory from birth to 12 months postpartum. Maternal Edinburgh Postpartum Depression screens were collected at 1, 6 and 12 months and fathers’ psychiatric diagnoses were assessed with the Structured Clinical Interview for DSM-IV from 64 families. There was not a significant difference in the trajectory of maternal depressive symptoms between mothers with partners with history of or a current psychiatric condition or those without a condition. However, mothers with partners with substance abuse history had higher levels of depressive symptoms relative to those affected by mood/anxiety disorders or those without a disorder. Our results call for a closer look at paternal history of substance abuse when treating postpartum maternal depression. PMID:25478124

  13. Maternal and paternal age are jointly associated with childhood autism in Jamaica.

    PubMed

    Rahbar, Mohammad H; 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

    2012-09-01

    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.

  14. STR typing of formalin-fixed paraffin embedded (FFPE) aborted foetal tissue in criminal paternity cases.

    PubMed

    Reshef, Ayeleth; Barash, Mark; Voskoboinik, Lev; Brauner, Paul; Gafny, Roni

    2011-03-01

    Sexual assault or rape cases occasionally result in unwanted pregnancies. In almost all such cases the foetus is aborted. A forensic laboratory may receive the foetus, the placenta, or paraffin embedded abortion material for paternity testing. Obtaining a foetal profile DNA from a foetus or placenta may not be successful due to the age or condition of the tissue. Moreover, maternal contamination of placental material will invariably result in a mixed DNA profile. However, the use of properly screened abortion material from paraffin blocks will almost always result in obtaining a foetal DNA profile. Furthermore, foetal tissue fixed in paraffin blocks does not require special conditions for submission and storage as required to preserve fresh foetal or placental tissue. As hospitals routinely prepare foetal tissue in paraffin blocks, which should be readily obtainable by forensic laboratories, these samples would appear to be the preferred choice for paternity testing. PMID:21334577

  15. Paternally expressed imprinted genes establish postzygotic hybridization barriers in Arabidopsis thaliana

    PubMed Central

    Wolff, Philip; Jiang, Hua; Wang, Guifeng; Santos-González, Juan; Köhler, Claudia

    2015-01-01

    Genomic imprinting is an epigenetic phenomenon causing parent-of-origin specific differential expression of maternally and paternally inherited alleles. While many imprinted genes have been identified in plants, the functional roles of most of them are unknown. In this study, we systematically examine the functional requirement of paternally expressed imprinted genes (PEGs) during seed development in Arabidopsis thaliana. While none of the 15 analyzed peg mutants has qualitative or quantitative abnormalities of seed development, we identify three PEGs that establish postzygotic hybridization barriers in the endosperm, revealing that PEGs have a major role as speciation genes in plants. Our work reveals that a subset of PEGs maintains functional roles in the inbreeding plant Arabidopsis that become evident upon deregulated expression. DOI: http://dx.doi.org/10.7554/eLife.10074.001 PMID:26344545

  16. Paternal age and telomere length in twins: the germ stem cell selection paradigm.

    PubMed

    Hjelmborg, Jacob B; Dalgård, Christine; Mangino, Massimo; Spector, Tim D; Halekoh, Ulrich; Möller, Sören; Kimura, Masayuki; Horvath, Kent; Kark, Jeremy D; Christensen, Kaare; Kyvik, Kirsten O; Aviv, Abraham

    2015-08-01

    Telomere length, a highly heritable trait, is longer in offspring of older fathers. This perplexing feature has been attributed to the longer telomeres in sperm of older men and it might be an 'epigenetic' mechanism through which paternal age plays a role in telomere length regulation in humans. Based on two independent (discovery and replication) twin studies, comprising 889 twin pairs, we show an increase in the resemblance of leukocyte telomere length between dizygotic twins of older fathers, which is not seen in monozygotic twins. This phenomenon might result from a paternal age-dependent germ stem cell selection process, whereby the selected stem cells have longer telomeres, are more homogenous with respect to telomere length, and share resistance to aging.

  17. Paternal and maternal influences on the psychological well-being of Chinese adolescents.

    PubMed

    Shek, D T

    1999-08-01

    Adolescents' (N = 378) perceptions of and satisfaction with parenting styles, perceived parent-adolescent conflict, perceived frequency of parent-adolescent communication and related feelings, perceived parent-adolescent relationship, and mental health were assessed with rating scales and structured interviews on 2 occasions separated by 1 year. Results showed that the questionnaire and interview measures at each time could be grouped into 2 stable factors: Paternal Parenthood Qualities (PPQ) and Maternal Parenthood Qualities (MPQ). Although both factors generally had significant concurrent and longitudinal correlations with adolescents' mental health, PPQ at Time 1-predicted changes in adolescent life satisfaction, hopelessness, self-esteem, purpose in life, and general psychiatric morbidity at Time 2, whereas MPQ at Time 1 did not predict those changes. Adolescents' mental health at Time 1 was found to predict changes in MPQ but not PPQ at Time 2. Relative to maternal qualities, paternal qualities were generally found to exert a stronger impact on adolescent psychological well-being.

  18. Paternity for sale: anxieties over "demographic theft" and undocumented migrant reproduction in Germany.

    PubMed

    Castañeda, Heide

    2008-12-01

    Women's experiences of migration, and their relationship to a host country, vary significantly from those of migrant men simply because pregnancy is a possibility. The concept of "demographic theft" highlights popular anxieties regarding high fertility among foreigners, including undocumented migrants. This article examines pregnant undocumented women's experiences with the health care system and relationship to the state in Germany. It also provides a discussion of how a restrictive immigration climate, particular models of citizenship, and liberal family laws have resulted in unique practices surrounding paternity claims. It is based on long-term ethnographic data to highlight contradictions and ambiguities in the policy environment and utilizes the notion of stratified reproduction to bring new evidence regarding mothers' deportability and practices of paternity.

  19. Early male reproductive advantage, multiple paternity and sperm storage in an amphibian aggregate breeder.

    PubMed

    Tennessen, J A; Zamudio, K R

    2003-06-01

    We tested whether the order in which males encounter females affects reproductive fitness in spotted salamanders (Ambystoma maculatum). Using mating chambers in the field, we allowed one male access to a female before a second male. We then used four microsatellite markers in paternity analyses of the resulting larvae. First males sired a significantly larger number of offspring than second males, suggesting that male reproductive success is greatly enhanced by early arrival at breeding ponds. Multiple paternity was common among clutches, and frequently larvae were assigned to unidentified males that had not been in the chambers. Sperm from these males had either been stored by females for a year or obtained more recently at other breeding sites. PMID:12755884

  20. 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

  1. Effect of increasing paternal body mass index on pregnancy and live birth rates in couples undergoing intracytoplasmic sperm injection.

    PubMed

    Umul, M; Köse, S A; Bilen, E; Altuncu, A G; Oksay, T; Güney, M

    2015-04-01

    In this study, our purpose was to investigate the possible effect of paternal obesity on intracytoplasmic sperm injection (ICSI) outcomes on the basis of clinical pregnancy outcome. Antropometric measurements of 155 couples, referred to our infertility clinic and who underwent an ICSI cycle, have been evaluated. The study sample were divided into three groups with respect to paternal body mass index (BMI), as normal weight (BMI: 20-24.9), overweight (BMI: 25-29.9) and obese (BMI ≥ 30). Results of conventional semen analysis were also analysed. Clinical pregnancy data, including fertilisation rate, implantation rate, clinical pregnancy rate and live birth rate, were evaluated. Paternal obesity was a significant negative factor for sperm concentration and sperm motility (P = 0.03 and P = 0.01 respectively). A significant decrease of clinical pregnancy rate and live birth rate was associated with increased paternal BMI (P = 0.04 and P = 0.03 respectively). We have not determined a significant difference among groups in terms of fertilisation rate and implantation rate. This study demonstrates that increasing paternal BMI has a negative influence on ICSI success, including clinical pregnancy rate and live birth rate. There is a need for further studies to point the importance of lifestyle changes in order to overcome the negative influence of paternal obesity on couple's fertility.

  2. 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

    2010-09-01

    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

  3. Extra-pair paternity confirmed in wild white-handed gibbons.

    PubMed

    Barelli, Claudia; Matsudaira, Kazunari; Wolf, Tanja; Roos, Christian; Heistermann, Michael; Hodges, Keith; Ishida, Takafumi; Malaivijitnond, Suchinda; Reichard, Ulrich H

    2013-12-01

    Knowledge of the genetic mating system of animal species is essential for our understanding of the evolution of social systems and individual reproductive strategies. In recent years, genetic methods have uncovered an unexpected diversity of paternal genetic contributions across diverse animal social mating systems, but particularly in pair-living species. In most pair-living birds, for example, genetic and behavioral observations have confirmed a previously unknown significance of extra-pair copulations (EPCs) and extra-pair paternity. Among mammals, white-handed gibbons (Hylobates lar) are also known to live in pairs and are traditionally believed to be single-male single-female breeders. However, at Khao Yai National Park, Thailand, behavioral observations have confirmed the occurrence of both EPCs and functional multi-male grouping, but knowledge about the genetic mating system is still unavailable. In this study, we genotyped 89 white-handed gibbons of the Khao Yai population based on fecal samplings and were able to determine paternity for 41 offspring through short tandem repeat analysis. We found that females' stable social partners sired the majority (90.5%) of offspring (N = 38), while only a few (7.1%) offspring (n = 2 confirmed cases; n = 1 inferred case) were conceived with extra-pair partners. The paternity of one offspring remained inconclusive (2.4%), because the offspring's genotype did not mismatch with the genotypes of two potential sires. Like other predominantly pair-living species, gibbons appear to follow a mixed-reproductive strategy. The genetic mating system of wild white-handed gibbons is best described as flexible, primarily monogamous and opportunistically promiscuous. Inc. PMID:23877831

  4. 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

  5. SCHIZOPHRENIA AND BIRTHPLACE OF PATERNAL AND MATERNAL GRANDFATHER IN THE JERUSALEM PERINATAL COHORT PROSPECTIVE STUDY

    PubMed Central

    Harlap, S; Perrin, M C; Deutsch, L; Kleinhaus, K; Fennig, S; Nahon, D; Teitelbaum, A; Friedlander, Y; Malaspina, D

    2009-01-01

    Some forms of epigenetic abnormalities transmitted to offspring are manifest in differences in disease incidence that depend on parent-of-origin. To explore whether such phenomena might operate in schizophrenia spectrum disorders, we estimated the relative incidence of these conditions in relation to parent-of-origin by considering the two grandfathers' countries of birth. In a prospective cohort of 88,829 offspring, born in Jerusalem in 1964–76 we identified 637 cases through Israel's psychiatric registry. Relative risks (RR) were estimated for paternal and maternal grandfathers' countries of birth using proportional hazards methods, controlling for parents' ages, low social class and duration of marriage. After adjusting for multiple observations, we found no significant differences between descendants of maternal or paternal grandfathers born in Iraq, Iran, Turkey, Syria, Yemen, Morocco, Algeria, Tunisia, Libya/Egypt, Poland, USSR, Czechoslovakia, Germany or the USA. Those with paternal grandfathers from Romania (RR=1.9, 95% CI=1.3–2.8) or Hungary (1.6, 1.0–2.6) showed an increased incidence; however, those with maternal grandfathers from these countries experienced reduced incidence (RR=0.5, 0.3–0.8 and 0.4, 0.2–0.8). In post-hoc analyses we found that results were similar whether the comparison groups were restricted to descendants of other Europeans or included those from Western Asia and North Africa; and effects of paternal grandfathers from Romania/Hungary were more pronounced in females, while effects of maternal grandfathers from these countries were similar in males and females. These post-hoc “hypothesis-generating” findings lead one to question whether some families with ancestors in Romania or Hungary might carry a variant or mutation at a parentally imprinted locus that is altering susceptibility to schizophrenia. Such a locus, if it exists, might involve the X chromosome. PMID:19361958

  6. Round Spermatid Injection Rescues Female Lethality of a Paternally Inherited Xist Deletion in Mouse

    PubMed Central

    Wassenaar, Evelyne; van Veen-Buurman, Catherina J. H.; van de Werken, Christine; Laven, Joop S. E.; Grootegoed, J Anton; Gribnau, Joost

    2016-01-01

    In mouse female preimplantation embryos, the paternal X chromosome (Xp) is silenced by imprinted X chromosome inactivation (iXCI). This requires production of the noncoding Xist RNA in cis, from the Xp. The Xist locus on the maternally inherited X chromosome (Xm) is refractory to activation due to the presence of an imprint. Paternal inheritance of an Xist deletion (XpΔXist) is embryonic lethal to female embryos, due to iXCI abolishment. Here, we circumvented the histone-to-protamine and protamine-to-histone transitions of the paternal genome, by fertilization of oocytes via injection of round spermatids (ROSI). This did not affect initiation of XCI in wild type female embryos. Surprisingly, ROSI using ΔXist round spermatids allowed survival of female embryos. This was accompanied by activation of the intact maternal Xist gene, initiated with delayed kinetics, around the morula stage, resulting in Xm silencing. Maternal Xist gene activation was not observed in ROSI-derived males. In addition, no Xist expression was detected in male and female morulas that developed from oocytes fertilized with mature ΔXist sperm. Finally, the expression of the X-encoded XCI-activator RNF12 was enhanced in both male (wild type) and female (wild type as well as XpΔXist) ROSI derived embryos, compared to in vivo fertilized embryos. Thus, high RNF12 levels may contribute to the specific activation of maternal Xist in XpΔXist female ROSI embryos, but upregulation of additional Xp derived factors and/or the specific epigenetic constitution of the round spermatid-derived Xp are expected to be more critical. These results illustrate the profound impact of a dysregulated paternal epigenome on embryo development, and we propose that mouse ROSI can be used as a model to study the effects of intergenerational inheritance of epigenetic marks. PMID:27716834

  7. Paternal involvement and fetal morbidity outcomes in HIV/AIDS: a population-based study.

    PubMed

    Alio, Amina P; Mbah, Alfred K; Shah, Krupa; August, Euna M; Dejoy, Sharon; Adegoke, Korede; Marty, Phillip J; Salihu, Hamisu M; Aliyu, Muktar H

    2015-01-01

    Prior research indicates that infants with absent fathers are vulnerable to unfavorable fetal birth outcomes. HIV is a recognized risk factor for adverse birth outcomes. However, the influence of paternal involvement on fetal morbidity outcomes in women with HIV remains poorly understood. Using linked hospital discharge data and vital statistics records for the state of Florida (1998-2007), the authors assessed the association between paternal involvement and fetal growth outcomes (i.e., low birth weight [LBW], very low birth weight [VLBW], preterm birth [PTB], very preterm birth [VPTB], and small for gestational age [SGA]) among HIV-positive mothers (N=4,719). Propensity score matching was used to match cases (absent fathers) to controls (fathers involved). Conditional logistic regression was employed to generate adjusted odds ratios (OR). Mothers of infants with absent fathers were more likely to be Black, younger (<35 years old), and unmarried with at least a high school education (p<.01). They were also more likely to have a history of drug (p<.01) and alcohol (p=.02) abuse. These differences disappeared after propensity score matching. Infants of HIV-positive mothers with absent paternal involvement during pregnancy had elevated risks for adverse fetal outcomes (LBW: OR=1.30, 95% confidence interval [CI]=1.05-1.60; VLBW: OR=1.72, 95% CI=1.05-2.82; PTB: OR=1.38, 95% CI=1.13-1.69; VPTB: OR=1.81, 95% CI=1.13-2.90). Absence of fathers increases the likelihood of adverse fetal morbidity outcomes in women with HIV infection. These findings underscore the importance of paternal involvement during pregnancy, especially as an important component of programs for prevention of mother-to-child transmission of HIV.

  8. Impact of paternity errors in cow identification on genetic evaluations and international comparisons.

    PubMed

    Banos, G; Wiggans, G R; Powell, R L

    2001-11-01

    The impact of paternity identification errors on US genetic evaluations and international comparisons of Holstein dairy bulls for milk, fat, and protein yields was investigated. Sire identification was replaced for 11% of Holstein cows that were sired by AI bulls and had records in the US database for national genetic evaluations; US evaluations were computed based on those modified pedigrees and compared with official national evaluations. Estimated breeding values from the data with introduced paternity errors were biased, especially for later generations. Estimated genetic trends decreased by 11 to 15%. Estimates of standard deviations of sire transmitting ability also decreased by 8 to 9%. International multitrait across-country comparisons of bulls were computed based on national evaluations from the United States, Canada, New Zealand, and The Netherlands. Estimates of genetic correlations between the United States and other countries decreased by 0.04 to 0.06 when US evaluations were based on modified pedigree. The resulting bias toward selection of domestic bulls and the inability to identify truly superior animals that are available internationally could decrease potential selection differentials by 0.07 to 0.09 standard deviation units on the US scale, which corresponds to sire breeding values of approximately 50 kg for milk, 3 kg for fat, and 1.7 kg for protein. Losses for the other countries were lower and ranged from 0.02 to 0.05 standard deviation units, because a correlation of less than unity with the United States decreased the impact of US cow paternity errors on the scales of other countries. Although paternity verification is desirable and technically feasible, commercial implementation would require low testing costs.

  9. Low paternity skew and the influence of maternal kin in an egalitarian, patrilocal primate

    PubMed Central

    Strier, Karen B.; Chaves, Paulo B.; Mendes, Sérgio L.; Fagundes, Valéria; Di Fiore, Anthony

    2011-01-01

    Levels of reproductive skew vary in wild primates living in multimale groups depending on the degree to which high-ranking males monopolize access to females. Still, the factors affecting paternity in egalitarian societies remain unexplored. We combine unique behavioral, life history, and genetic data to evaluate the distribution of paternity in the northern muriqui (Brachyteles hypoxanthus), a species known for its affiliative, nonhierarchical relationships. We genotyped 67 individuals (22 infants born over a 3-y period, their 21 mothers, and all 24 possible sires) at 17 microsatellite marker loci and assigned paternity to all infants. None of the 13 fathers were close maternal relatives of females with which they sired infants, and the most successful male sired a much lower percentage of infants (18%) than reported for the most successful males in other species. Our findings of inbreeding avoidance and low male reproductive skew are consistent with the muriqui's observed social and sexual behavior, but the long delay (≥2.08 y) between the onset of male sexual behavior and the age at which males first sire young is unexpected. The allocation of paternity implicates individual male life histories and access to maternal kin as key factors influencing variation in paternal—and grandmaternal—fitness. The apparent importance of lifelong maternal investment in coresident sons resonates with other recent examinations of maternal influences on offspring reproduction. This importance also extends the implications of the “grandmother hypothesis” in human evolution to include the possible influence of mothers and other maternal kin on male reproductive success in patrilocal societies. PMID:22065786

  10. Multiple Mating, Paternity and Complex Fertilisation Patterns in the Chokka Squid Loligo reynaudii.

    PubMed

    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.

  11. Does multiple paternity affect seed mass in angiosperms? An experimental test in Dalechampia scandens.

    PubMed

    Pélabon, C; Albertsen, E; Falahati-Anbaran, M; Wright, J; Armbruster, W S

    2015-09-01

    Flowers fertilized by multiple fathers may be expected to produce heavier seeds than those fertilized by a single father. However, the adaptive mechanisms leading to such differences remain unclear, and the evidence inconsistent. Here, we first review the different hypotheses predicting an increase in seed mass when multiple paternity occurs. We show that distinguishing between these hypotheses requires information about average seed mass, but also about within-fruit variance in seed mass, bias in siring success among pollen donors, and whether siring success and seed mass are correlated. We then report the results of an experiment on Dalechampia scandens (Euphorbiaceae), assessing these critical variables in conjunction with a comparison of seed mass resulting from crosses with single vs. multiple pollen donors. Siring success differed among males when competing for fertilization, but average seed mass was not affected by the number of fathers. Furthermore, paternal identity explained only 3.8% of the variance in seed mass, and siring success was not correlated with the mass of the seeds produced. Finally, within-infructescence variance in seed mass was not affected by the number of fathers. These results suggest that neither differential allocation nor sibling rivalry has any effect on the average mass of seeds in multiply sired fruits in D. scandens. Overall, the limited paternal effects observed in most studies and the possibility of diversification bet hedging among flowers (but not within flowers), suggest that multiple paternity within fruits or infructescence is unlikely to affect seed mass in a large number of angiosperm species. PMID:26174371

  12. 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

  13. Pentatricopeptide repeat 336 as the candidate gene for paternal sorting of mitochondria (Psm) in cucumber

    PubMed Central

    Del Valle-Echevarria, A. R.; Sanseverino, W.; Garcia-Mas, J.

    2016-01-01

    Key message Pentatricopeptide repeat (PPR) 336 was identified as the candidate gene for Paternal Sorting of Mitochondria (Psm), a nuclear locus that affects the predominant mitochondria transmitted to progenies. Cucumber (Cucumis sativus L.) is a useful plant to study organellar-nuclear interactions because its organelles show differential transmission, maternal for chloroplasts and paternal for mitochondria. The mitochondrial DNA (mtDNA) of cucumber is relatively large due in part to accumulation of repetitive DNAs and recombination among these repetitive regions produces structurally polymorphic mtDNAs associated with paternally transmitted mosaic (MSC) phenotypes. The mitochondrial mutant MSC16 possesses an under-representation of ribosomal protein S7 (rps7), a key component of the small ribosomal subunit in the mitochondrion. A nuclear locus, Paternal Sorting of Mitochondria (Psm), affects the predominant mitochondria transmitted to progenies generated from crosses with MSC16 as the male parent. Using single nucleotide polymorphisms, Psm was mapped to a 170 kb region on chromosome 3 of cucumber and pentatricopeptide repeat (PPR) 336 was identified as the likely candidate gene. PPR336 stabilizes mitochondrial ribosomes in Arabidopsis thaliana and because MSC16 shows reduced transcription of rps7, the cucumber homolog of PPR336 (CsPPR336) as the candidate for Psm is consistent with a nuclear effect on ribosome assembly or stability in the mitochondrion. We used polymorphisms in CsPPR336 to genotype progenies segregating at Psm and recovered only one Psm−/− plant with the MSC phenotype, indicating that the combination of the Psm− allele with mitochondria from MSC16 is almost always lethal. This research illustrates the usefulness of the MSC mutants of cucumber to reveal and study unique interactions between the mitochondrion and nucleus. PMID:27423873

  14. Increased selfing and correlated paternity in a small population of a predominantly outcrossing conifer, Pinus sylvestris.

    PubMed

    Robledo-Arnuncio, J J; Alía, R; Gil, L

    2004-09-01

    Outcrossing rate, the rates of ovule and seed abortion, and levels of correlated paternity were estimated in a small population of Pinus sylvestris, a predominantly outcrossing conifer, and were compared with estimates from two widely dispersed woodlands of the same species, showing a range of densities. On average, seed trees of the small population showed an eight-fold higher selfing rate (25 vs. 3%) and a 100-fold greater incidence of correlated paternity (19.6 vs. 0.2%) than did trees from the large populations. No evidence was found of pollen limitation within the remnant stand, as suggested by ovule abortion rates. Investigation of the mating patterns in the small population, based on the unambiguous genealogy of 778 open-pollinated seeds, showed a large departure from random mating. Only 8% of the possible mating pairs within the stand were observed. Correlated paternity rate within a maternal sibship was negatively associated (rs = -0.398, P < 0.050) with the distance to the nearest neighbour, and shared paternity among maternal sibships was negatively correlated (rs = -0.704, P < 0.001) with the distance between seed trees. Numerical simulations, based on the estimated individual pollen dispersal kernel, suggest that restricted dispersal might have been the key factor affecting mating patterns in the small population and, together with low population density, may account for the observed mating system variation between the small and the large populations. The results of this study show that a severe size reduction may substantially affect the mating system of a wind-pollinated, typically outcrossed plant species.

  15. Paternal imprint essential for the inheritance of telomere identity in Drosophila.

    PubMed

    Gao, Guanjun; Cheng, Yan; Wesolowska, Natalia; Rong, Yikang S

    2011-03-22

    Chromatin remodeling during sperm maturation could erase epigenetic landmarks on the paternal genome, creating a challenge for its reestablishment on fertilization. Here, we show that selective retention of a chromosomal protein in mature sperm protects the identity of paternal telomeres in Drosophila. The ms(3)k81 (k81) gene is a duplication of hiphop that encodes a telomeric protein. Although HipHop protects telomeres in somatic cells, K81 is produced exclusively in males and localizes to telomeres in postmitotic cells, including mature sperm. In embryos fathered by k81 mutants, the maternal supplies fail to reestablish a protective cap on paternal telomeres, leading to their fusions. These fusions hinder the segregation of the paternal genome and result in haploid embryos with maternal chromosomes. The functional divergence between hiphop and k81 manifests not only in their expression patterns but also in the protein functions that they encode. By swapping the two coding regions, we show that K81 can replace HipHop for somatic protection; however, HipHop cannot replace K81 in the germ line to specify telomere identity, because HipHop ectopically expressed in the testis is removed from chromatin during sperm maturation. HipHop lacks a short motif in K81 that is essential for K81 to survive the remodeling process. We show that the combined functions of HipHop and K81 are likely fulfilled by the single ancestral hiphop locus in other Drosophila species, supporting the hypothesis that the evolutionary process of subfunctionalization was responsible for the preservation of the hiphop-k81 duplicate. PMID:21383184

  16. Paternally Inherited Gsα Mutation Impairs Adipogenesis and Potentiates a Lean Phenotype In Vivo

    PubMed Central

    Liu, Jan-jan; Russell, Elizabeth; Zhang, Deyu; Kaplan, Frederick S.; Pignolo, Robert J.; Shore, Eileen M.

    2012-01-01

    Paternally inherited inactivating mutations of the GNAS gene have been associated with a rare and disabling genetic disorder, progressive osseous heteroplasia, in which heterotopic ossification occurs within extraskeletal soft tissues, such as skin, subcutaneous fat, and skeletal muscle. This ectopic bone formation is hypothesized to be caused by dysregulated mesenchymal progenitor cell differentiation that affects a bipotential osteogenic-adipogenic lineage cell fate switch. Interestingly, patients with paternally inherited inactivating mutations of GNAS are uniformly lean. Using a mouse model of Gsα-specific exon 1 disruption, we examined whether heterozygous inactivation of Gnas affects adipogenic differentiation of mesenchymal precursor cells from subcutaneous adipose tissues (fat pad). We found that paternally inherited Gsα inactivation (Gsα+/p−) impairs adipogenic differentiation of adipose-derived stromal cells (ASCs). The Gsα+/p− mutation in ASCs also decreased expression of the adipogenic factors CCAAT-enhancer-binding protein (C/EBP)β, C/EBPα, peroxisome proliferator-activated receptor gamma, and adipocyte protein 2. Impaired adipocyte differentiation was rescued by an adenylyl cyclase activator, forskolin, and provided evidence that Gsα-cAMP signals are necessary in early stages of this process. Supporting a role for Gnas in adipogenesis in vivo, fat tissue weight and expression of adipogenic genes from multiple types of adipose tissues from Gsα+/p− mice were significantly decreased. Interestingly, the inhibition of adipogenesis by paternally inherited Gsα mutation also enhances expression of the osteogenic factors, msh homeobox 2, runt-related transcription factor 2, and osteocalcin. These data support the hypothesis that Gsα plays a critical role in regulating the balance between fat and bone determination in soft tissues, a finding that has important implications for a wide variety of disorders of osteogenesis and adipogenesis. PMID

  17. Paternal imprint essential for the inheritance of telomere identity in Drosophila.

    PubMed

    Gao, Guanjun; Cheng, Yan; Wesolowska, Natalia; Rong, Yikang S

    2011-03-22

    Chromatin remodeling during sperm maturation could erase epigenetic landmarks on the paternal genome, creating a challenge for its reestablishment on fertilization. Here, we show that selective retention of a chromosomal protein in mature sperm protects the identity of paternal telomeres in Drosophila. The ms(3)k81 (k81) gene is a duplication of hiphop that encodes a telomeric protein. Although HipHop protects telomeres in somatic cells, K81 is produced exclusively in males and localizes to telomeres in postmitotic cells, including mature sperm. In embryos fathered by k81 mutants, the maternal supplies fail to reestablish a protective cap on paternal telomeres, leading to their fusions. These fusions hinder the segregation of the paternal genome and result in haploid embryos with maternal chromosomes. The functional divergence between hiphop and k81 manifests not only in their expression patterns but also in the protein functions that they encode. By swapping the two coding regions, we show that K81 can replace HipHop for somatic protection; however, HipHop cannot replace K81 in the germ line to specify telomere identity, because HipHop ectopically expressed in the testis is removed from chromatin during sperm maturation. HipHop lacks a short motif in K81 that is essential for K81 to survive the remodeling process. We show that the combined functions of HipHop and K81 are likely fulfilled by the single ancestral hiphop locus in other Drosophila species, supporting the hypothesis that the evolutionary process of subfunctionalization was responsible for the preservation of the hiphop-k81 duplicate.

  18. Paternal imprint essential for the inheritance of telomere identity in Drosophila

    PubMed Central

    Gao, Guanjun; Cheng, Yan; Wesolowska, Natalia; Rong, Yikang S.

    2011-01-01

    Chromatin remodeling during sperm maturation could erase epigenetic landmarks on the paternal genome, creating a challenge for its reestablishment on fertilization. Here, we show that selective retention of a chromosomal protein in mature sperm protects the identity of paternal telomeres in Drosophila. The ms(3)k81 (k81) gene is a duplication of hiphop that encodes a telomeric protein. Although HipHop protects telomeres in somatic cells, K81 is produced exclusively in males and localizes to telomeres in postmitotic cells, including mature sperm. In embryos fathered by k81 mutants, the maternal supplies fail to reestablish a protective cap on paternal telomeres, leading to their fusions. These fusions hinder the segregation of the paternal genome and result in haploid embryos with maternal chromosomes. The functional divergence between hiphop and k81 manifests not only in their expression patterns but also in the protein functions that they encode. By swapping the two coding regions, we show that K81 can replace HipHop for somatic protection; however, HipHop cannot replace K81 in the germ line to specify telomere identity, because HipHop ectopically expressed in the testis is removed from chromatin during sperm maturation. HipHop lacks a short motif in K81 that is essential for K81 to survive the remodeling process. We show that the combined functions of HipHop and K81 are likely fulfilled by the single ancestral hiphop locus in other Drosophila species, supporting the hypothesis that the evolutionary process of subfunctionalization was responsible for the preservation of the hiphop-k81 duplicate. PMID:21383184

  19. “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

  20. Maternal and Paternal Risk Factors and Birth Outcomes among Asian and Pacific Islanders in Illinois.

    PubMed

    Patel, Daksha; Patel, Urjeet; Piotrowski, Zdzislaw H.; Nelson, Merwyn

    1995-01-01

    PURPOSE. The pupose of this study was to compare maternal and paternal risk factors and the outcomes of Asian Pacific Islander (API) pregnancies with other racial/ethnic groups (Black, Hispanic, and White) in Illinois. METHODS. We examined computerized birth certificate files in Illinois to descriptively analyze birth outcomes and parental characteristics for births occurring between 1989 and 1993. Infant mortality tables were examined for birth cohorts born from 1989 to 1992. Rates among Illinois API groups were presented for the following: maternal and paternal socio-demographic factors; maternal medical risk factors, amount of prenatal care and type of method of delivery; newborn complications and various morbidity outcomes; and, early neonatal mortality. For comparison, simliar Illinois data are presented for Blacks and Whites and Hispanics. We statistically evaluated the significance in variability of rates. PRINCIPAL FINDINGS. APIs in Illinois experienced a lower infant mortality rate. API mothers were more likely to be married, beyond the teenage years, have more education and smoke less often during their pregnancy than any of the other racial/ethnic groups. In addition, API mothers were more likely to experience primiparity rather than high parity. We detected statistically signifacnt differences for maternal and paternal socio-demographic characteristics among the four populations (p<0.0001). Similarly we found statistically significant differences in risk factors during pregnancy and labor and delivery complications among four race/ethnic population (p<0.0001). CONCLUSIONS. Fetal, neonatal, post-natal and infant mortality rates were the lowest among APIs when compared to Hispanic, Black and White neonates. These differences were statistically signifacant. However, rates of inadequate prenatal care, labor and elivery complications, prematurity and low birth weight were not similarly lower among APIs. RELEVANCE TO ASIAN AND PACIFIC ISLANDER AMERICAN

  1. Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis.

    PubMed

    Goldstein, Jesse A; Paliga, James Thomas; Taylor, Jesse A; Bartlett, Scott P

    2015-01-01

    Patients with syndromic craniosynostosis manifest midfacial hypoplasia often treated by midfacial advancement. Benefits of midfacial advancement by distraction osteogenesis have been well studied; little is known about the perioperative morbidity of these procedures, specifically relating to device selection. This study compares the perioperative complications between semiburied- and halo-type distraction osteogenesis of the midface. A retrospective review was performed on all patients with syndromic craniosynostosis who underwent midface distraction with semiburied- or halo-type external distractors. Demographic information and operative/postoperative course were reviewed. Complications were categorized as hardware-related, infectious, and either as major (requiring additional intervention) or minor (requiring medication only). Chi-squared and Fisher exact test were used to compare variables.From 1999 to 2012, a total of 54 patients underwent midface distraction osteogenesis, including 23 patients with Apert syndrome, 19 patients with Crouzon syndrome, 10 patients with Pfeiffer syndrome, and 2 patients with other craniofacial syndromes. Thirty-three patients underwent a total of 34 subcranial Le Fort III distraction procedures and 21 underwent 21 monobloc distraction procedures. The mean age during surgery was 8.0 (range, 4.0-17.7) years, whereas the mean time between distractor placement and removal was 102.9 days. Thirty procedures were performed with external halo-type distractors (18 Le Fort III and 12 monobloc distractions), whereas 25 were performed with buried midface distractors (16 Le Fort III and 9 monobloc distractions). There were no significant differences in diagnoses or interventions between the distraction devices. Of the 19 distractor-related complications, there were a total of 10 (18.2%) in the halo group including 5 (9.1%) requiring separate operative intervention as well as 9 (16.4%) in the buried distractor group including 6 (10.1%) requiring

  2. Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis.

    PubMed

    Goldstein, Jesse A; Paliga, James Thomas; Taylor, Jesse A; Bartlett, Scott P

    2015-01-01

    Patients with syndromic craniosynostosis manifest midfacial hypoplasia often treated by midfacial advancement. Benefits of midfacial advancement by distraction osteogenesis have been well studied; little is known about the perioperative morbidity of these procedures, specifically relating to device selection. This study compares the perioperative complications between semiburied- and halo-type distraction osteogenesis of the midface. A retrospective review was performed on all patients with syndromic craniosynostosis who underwent midface distraction with semiburied- or halo-type external distractors. Demographic information and operative/postoperative course were reviewed. Complications were categorized as hardware-related, infectious, and either as major (requiring additional intervention) or minor (requiring medication only). Chi-squared and Fisher exact test were used to compare variables.From 1999 to 2012, a total of 54 patients underwent midface distraction osteogenesis, including 23 patients with Apert syndrome, 19 patients with Crouzon syndrome, 10 patients with Pfeiffer syndrome, and 2 patients with other craniofacial syndromes. Thirty-three patients underwent a total of 34 subcranial Le Fort III distraction procedures and 21 underwent 21 monobloc distraction procedures. The mean age during surgery was 8.0 (range, 4.0-17.7) years, whereas the mean time between distractor placement and removal was 102.9 days. Thirty procedures were performed with external halo-type distractors (18 Le Fort III and 12 monobloc distractions), whereas 25 were performed with buried midface distractors (16 Le Fort III and 9 monobloc distractions). There were no significant differences in diagnoses or interventions between the distraction devices. Of the 19 distractor-related complications, there were a total of 10 (18.2%) in the halo group including 5 (9.1%) requiring separate operative intervention as well as 9 (16.4%) in the buried distractor group including 6 (10.1%) requiring

  3. A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma.

    PubMed

    van den Oever, Jessica M E; van Minderhout, Ivonne J H M; Harteveld, Cornelis L; den Hollander, Nicolette S; Bakker, Egbert; van der Stoep, Nienke; Boon, Elles M J

    2015-09-01

    The challenge in noninvasive prenatal diagnosis for monogenic disorders lies in the detection of low levels of fetal variants in the excess of maternal cell-free plasma DNA. Next-generation sequencing, which is the main method used for noninvasive prenatal testing and diagnosis, can overcome this challenge. However, this method may not be accessible to all genetic laboratories. Moreover, shotgun next-generation sequencing as, for instance, currently applied for noninvasive fetal trisomy screening may not be suitable for the detection of inherited mutations. We have developed a sensitive, mutation-specific, and fast alternative for next-generation sequencing-mediated noninvasive prenatal diagnosis using a PCR-based method. For this proof-of-principle study, noninvasive fetal paternally inherited mutation detection was performed using cell-free DNA from maternal plasma. Preferential amplification of the paternally inherited allele was accomplished through a personalized approach using a blocking probe against maternal sequences in a high-resolution melting curve analysis-based assay. Enhanced detection of the fetal paternally inherited mutation was obtained for both an autosomal dominant and a recessive monogenic disorder by blocking the amplification of maternal sequences in maternal plasma. PMID:26162331

  4. 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.

  5. Progress on the paternal brain: theory, animal models, human brain research, and mental health implications.

    PubMed

    Swain, J E; Dayton, C J; Kim, P; Tolman, R M; Volling, B L

    2014-01-01

    With a secure foundation in basic research across mammalian species in which fathers participate in the raising of young, novel brain-imaging approaches are outlining a set of consistent brain circuits that regulate paternal thoughts and behaviors in humans. The newest experimental paradigms include increasingly realistic baby-stimuli to provoke paternal cognitions and behaviors with coordinated hormone measures to outline brain networks that regulate motivation, reflexive caring, emotion regulation, and social brain networks with differences and similarities to those found in mothers. In this article, on the father brain, we review all brain-imaging studies on PubMed to date on the human father brain and introduce the topic with a selection of theoretical models and foundational neurohormonal research on animal models in support of the human work. We discuss potentially translatable models for the identification and treatment of paternal mood and father-child relational problems, which could improve infant mental health and developmental trajectories with potentially broad public health importance.

  6. 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

  7. Family Economic Stress, Quality of Paternal Relationship, and Depressive Symptoms among African American Adolescent Fathers

    PubMed Central

    Hunt, Tenah K. A.; Caldwell, Cleopatra H.; Assari, Shervin

    2015-01-01

    This study examined the association between perceived family economic stress, quality of father-son relationships, and depressive symptoms among African American adolescent fathers. Data were collected during pregnancy from 65 African American adolescents who were first-time fathers, ages 14-19. Results from multiple regression analyses indicated that higher paternal relationship satisfaction was associated with fewer depressive symptoms among adolescent fathers. Additionally, depressive symptoms were higher among adolescent fathers who reported experiencing higher levels of conflict with their fathers. Further, paternal conflict moderated the effect of perceived family economic stress on depressive symptoms. That is, among adolescent fathers experiencing low levels of conflict with their fathers, high perceived family economic stress was associated with more depressive symptoms. Study findings suggest that the risk for depressive symptoms is highest among adolescent fathers experiencing low family economic stress and highly conflictual relations with their fathers. These results highlight the complexities of paternal relationships and perceived economic stressors on depressive symptoms during pregnancy for African American adolescent fathers. The importance of expanding research on influential familial relationships and economic stressors on adolescent African American fathers is discussed. PMID:26617454

  8. 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%.

  9. Genealogical analysis of maternal and paternal lineages in the Quebec population.

    PubMed

    Tremblay, Marc; Vézina, Hélène

    2010-04-01

    The Quebec population is one of the rare populations of its size for which genealogical information is available for an uninterrupted period of almost four centuries. This allows for in-depth studies on the formation and evolution of a young founder population. Using data from two major population registers, in this study we focus on the maternal and paternal lineages (i.e., strictly female or male genealogical lines) that can be traced back within the Quebec genealogies. Through the analysis of these lineages it is possible to characterize the founders who transmitted to the contemporary population their mitochondrial (for females) and Y-chromosome (for males) DNA. The basic material consists of 2,221 ascending genealogies of subjects who married in the Quebec population between 1945 and 1965. On average, more than nine generations of ancestors were identified among the lineages. Analyses of maternal and paternal lineages show that the number of paternal founders is higher and their origins and genetic contributions are more variable than that of maternal founders, leading to a larger effective population size and greater diversity of Y chromosomes than of mtDNA. This is explained for the most part by differential migratory patterns among male and female founders of the Quebec population. Comparisons of sex-specific genetic contributions with total genetic contribution showed a strong correlation between the two values, with some discrepancies related to sex ratio differences among the founders' first descendants.

  10. High frequency of multiple paternity in the largest rookery of Mediterranean loggerhead sea turtles.

    PubMed

    Zbinden, Judith A; Largiadèr, Carlo R; Leippert, Fabio; Margaritoulis, Dimitris; Arlettaz, Raphaël

    2007-09-01

    Mating systems are a central component in the evolution of animal life histories and in conservation genetics. The patterns of male reproductive skew and of paternal shares in batches of offspring, for example, affect genetic effective population size. A prominent characteristic of mating systems of sea turtles seem to be a considerable intra- and interspecific variability in the degree of polyandry. Because of the difficulty of observing the mating behaviour of sea turtles directly in the open sea, genetic paternity analysis is particularly useful for gaining insights into this aspect of their reproductive behaviour. We investigated patterns of multiple paternity in clutches of loggerhead sea turtles in the largest Mediterranean rookery using four highly variable microsatellite loci. Furthermore, we tested for a relationship between the number of fathers detected in clutches and body size of females. More than one father was detected in the clutches of 14 out of 15 females, with two clutches revealing the contribution of at least five males. In more than half the cases, the contributions of different fathers to a clutch did not depart from equality. The number of detected fathers significantly increased with increasing female body size. This relationship indicates that males may prefer to mate with large, and therefore productive, females. Our results suggest that polyandry is likely to increase effective population size compared to a population in which females would mate with only one male; male reproductive contributions being equal.

  11. Progress on the paternal brain: theory, animal models, human brain research, and mental health implications.

    PubMed

    Swain, J E; Dayton, C J; Kim, P; Tolman, R M; Volling, B L

    2014-01-01

    With a secure foundation in basic research across mammalian species in which fathers participate in the raising of young, novel brain-imaging approaches are outlining a set of consistent brain circuits that regulate paternal thoughts and behaviors in humans. The newest experimental paradigms include increasingly realistic baby-stimuli to provoke paternal cognitions and behaviors with coordinated hormone measures to outline brain networks that regulate motivation, reflexive caring, emotion regulation, and social brain networks with differences and similarities to those found in mothers. In this article, on the father brain, we review all brain-imaging studies on PubMed to date on the human father brain and introduce the topic with a selection of theoretical models and foundational neurohormonal research on animal models in support of the human work. We discuss potentially translatable models for the identification and treatment of paternal mood and father-child relational problems, which could improve infant mental health and developmental trajectories with potentially broad public health importance. PMID:25798491

  12. Paternal care in a fish: epigenetics and fitness enhancing effects on offspring anxiety

    PubMed Central

    McGhee, Katie E.; Bell, Alison M.

    2014-01-01

    In many animals, including humans, interactions with caring parents can have long-lasting effects on offspring sensitivity to stressors. However, whether these parental effects impact offspring fitness in nature is often unclear. In addition, despite evidence that maternal care can influence offspring behaviour via epigenetic alterations to the genome, it remains unclear whether paternal care has similar effects. Here, we show in three-spined sticklebacks, a fish in which fathers are the sole provider of offspring care, that the direct care provided by fathers affects offspring anxiety and the potential for epigenetic alterations to the offspring genome. We find that families are differentially vulnerable to early stress and fathers can compensate for this differential sensitivity with the quality of their care. This variation in paternal care is also linked to the expression in offspring brains of a DNA methyltransferase (Dnmt3a) responsible for de novo methylation. We show that these paternal effects are potentially adaptive and anxious offspring are unlikely to survive an encounter with a predator. By supplying offspring care, fathers reduce offspring anxiety thereby increasing the survival of their offspring—not in the traditional sense through resource provisioning but through an epigenetic effect on offspring behavioural development. PMID:25232132

  13. Extrapair paternity rates vary with latitude and elevation in emberizid sparrows.

    PubMed

    Bonier, Frances; Eikenaar, Cas; Martin, Paul R; Moore, Ignacio T

    2014-01-01

    Mating systems can vary among species and populations and thus influence evolutionary trajectories, ecological traits, and population demography. The siring of offspring by an extrapair male, or extrapair paternity (EPP), is a widespread and varied phenomenon in all vertebrate classes. However, we do not understand all of the factors associated with variation in EPP rates. The breeding synchrony hypothesis suggests that EPP rates should increase with latitude and elevation, whereas the paternal care hypothesis predicts that EPP rates should decrease with elevation. To address these hypotheses, we investigated how population EPP rates vary over elevation and latitude in emberizid sparrows. In comparative analyses including the effects of phylogeny, the relationship between EPP rates and elevation depended on latitude. EPP rates were greater in higher-latitude populations. But within higher-latitude populations, EPP rates decreased with increasing elevation. These findings provide support for both the breeding synchrony and paternal care hypotheses, suggesting that in lower-latitude, higher-elevation populations, the need for male parental care does not outweigh the benefits of seeking extrapair fertilizations in populations with relatively synchronous breeding. In contrast, at higher-latitude, higher-elevation sites, the need for male parental care is greater and might drive lower rates of extrapair mating despite highly synchronous breeding.

  14. 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. PMID:16194254

  15. A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.

    PubMed

    Choi, Soo-Kyung; Yoon, Song-Ro; Calabrese, Peter; Arnheim, Norman

    2008-07-22

    Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome. This condition is 100-1,000 times more common than genomic mutation frequency data predict. Here, we report on the C758G de novo Apert syndrome mutation. Using data on older donors, we show that spontaneous mutations are not uniformly distributed throughout normal testes. Instead, we find foci where C758G mutation frequencies are 3-4 orders of magnitude greater than the remaining tissue. We conclude this nucleotide site is not a mutation hot spot even after accounting for possible Luria-Delbruck "mutation jackpots." An alternative explanation for such foci involving positive selection acting on adult self-renewing Ap spermatogonia experiencing the rare mutation could not be rejected. Further, the two youngest individuals studied (19 and 23 years old) had lower mutation frequencies and smaller foci at both mutation sites compared with the older individuals. This implies that the mutation frequency of foci increases as adults age, and thus selection could explain the paternal age effect for Apert syndrome and other genetic conditions. Our results, now including the analysis of two mutations in the same set of testes, suggest that positive selection can increase the relative frequency of premeiotic germ cells carrying such mutations, although individuals who inherit them have reduced fitness. In addition, we compared the anatomical distribution of C758G mutation foci with both new and old data on the C755G mutation in the same testis and found their positions were not correlated with one another. PMID:18632557

  16. 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. PMID:25832033

  17. Maternal and Paternal Genomes Differentially Affect Myofibre Characteristics and Muscle Weights of Bovine Fetuses at Midgestation

    PubMed Central

    Xiang, Ruidong; Ghanipoor-Samami, Mani; Johns, William H.; Eindorf, Tanja; Rutley, David L.; Kruk, Zbigniew A.; Fitzsimmons, Carolyn J.; Thomsen, Dana A.; Roberts, Claire T.; Burns, Brian M.; Anderson, Gail I.; Greenwood, Paul L.; Hiendleder, Stefan

    2013-01-01

    Postnatal myofibre characteristics and muscle mass are largely determined during fetal development and may be significantly affected by epigenetic parent-of-origin effects. However, data on such effects in prenatal muscle development that could help understand unexplained variation in postnatal muscle traits are lacking. In a bovine model we studied effects of distinct maternal and paternal genomes, fetal sex, and non-genetic maternal effects on fetal myofibre characteristics and muscle mass. Data from 73 fetuses (Day153, 54% term) of four genetic groups with purebred and reciprocal cross Angus and Brahman genetics were analyzed using general linear models. Parental genomes explained the greatest proportion of variation in myofibre size of Musculus semitendinosus (80–96%) and in absolute and relative weights of M. supraspinatus, M. longissimus dorsi, M. quadriceps femoris and M. semimembranosus (82–89% and 56–93%, respectively). Paternal genome in interaction with maternal genome (P<0.05) explained most genetic variation in cross sectional area (CSA) of fast myotubes (68%), while maternal genome alone explained most genetic variation in CSA of fast myofibres (93%, P<0.01). Furthermore, maternal genome independently (M. semimembranosus, 88%, P<0.0001) or in combination (M. supraspinatus, 82%; M. longissimus dorsi, 93%; M. quadriceps femoris, 86%) with nested maternal weight effect (5–6%, P<0.05), was the predominant source of variation for absolute muscle weights. Effects of paternal genome on muscle mass decreased from thoracic to pelvic limb and accounted for all (M. supraspinatus, 97%, P<0.0001) or most (M. longissimus dorsi, 69%, P<0.0001; M. quadriceps femoris, 54%, P<0.001) genetic variation in relative weights. An interaction between maternal and paternal genomes (P<0.01) and effects of maternal weight (P<0.05) on expression of H19, a master regulator of an imprinted gene network, and negative correlations between H19 expression and fetal muscle mass

  18. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  19. LEOPARD syndrome

    MedlinePlus

    LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, ... LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal ...

  20. Pendred Syndrome

    MedlinePlus

    ... thyroid gland. Pendred syndrome also can affect the vestibular system, which controls balance. Some people with Pendred syndrome will show vestibular weakness when their balance is tested. However, the ...