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  1. Apert syndrome

    MedlinePlus

    ... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... midface Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...

  2. Apert Syndrome: Late presentation and treatment challenges

    PubMed Central

    Kheir, Abdelmoneim E M; Hamed, Ahlam A; Maki, Wala M; Hasan, Lina H M

    2014-01-01

    Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of the hands and feet. Anomalies of the viscera, skeleton and cardiovascular system have also been reported… Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. Most cases are sporadic, resulting from new mutations with a paternal age effect. The prognosis of Apert Syndrome depends on the severity of brain malformation and early surgical interventions. We describe a Sudanese infant with Apert syndrome who presented for the first time at the age of three months and had limited options for intervention.

  3. Apert Syndrome: A Case Report

    PubMed Central

    Chatra, Laxmikanth; Shenai, Prashanth; Veena, KM

    2012-01-01

    Abstract Apert syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. We present a 10-month-old infant having all the features of classical Apert syndrome. How to cite this article: Khan S, Chatra L, Shenai P, Veena KM. Apert Syndrome: A Case Report. Int J Clin Pediatr Dent 2012; 5(3):203-206. PMID:25206168

  4. Guide to Understanding Apert Syndrome

    MedlinePlus

    ... normal. This one tiny change in the FGFR2 gene results in the physical features of Apert syndrome.” who is involved in the treatment of Apert syndrome? i deally, treatment of Apert syndrome begins at birth with accurate diagnosis, identification of the child's individual needs, and the proper ...

  5. 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…

  6. 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

  7. 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

  8. Genetics Home Reference: Apert syndrome

    MedlinePlus

    ... and Crouzon syndromes: clinical findings, genes and extracellular matrix. J Craniofac Surg. 2005 May;16(3):361- ... receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. 2002 Oct 15;112( ...

  9. 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

  10. 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

  11. Psychosis in Apert's syndrome with partial agenesis of the corpus callosum.

    PubMed Central

    Gupta, S; Popli, A

    1995-01-01

    A 19-year-old male with Apert's syndrome developed psychotic symptoms that responded to haloperidol. He was also found to have partial agenesis of the corpus callosum and enlarged lateral ventricles on a head CT scan. The implications of these findings in the context of psychotic symptoms are discussed. There are no previous reports of psychosis in patients with Apert's syndrome. PMID:7647085

  12. Apert syndrome: quality of life and challenges of a management protocol in Brazil.

    PubMed

    Raposo-Amaral, Cassio Eduardo; Raposo-Amaral, Cesar Augusto; Garcia Neto, José Junqueira; Farias, Daniely Bento; Somensi, Renato Salazar

    2012-07-01

    Apert syndrome is a complex craniofacial deformity with a broad clinical spectrum that mainly affects the craniofacial skeleton, lower and upper limbs. The quality of life for patients born with Apert syndrome may be strongly affected by the limitations that this syndrome imposes. The aims of this study were to describe the quality of life of patients born with Apert syndrome and the challenges of managing an Apert protocol in Brazil. The quality of life of 8 Apert patients who adhered to our management protocol was assessed using the Portuguese version of WHOQOL-100 (World Health Organization Quality of Life instrument). The answers were submitted to SPSS (Statistic Package for Social Science), and results were expressed in 25 facets and 6 domains (physical, psychological, social relations, level of independence, environment, and spirituality). Patients and families signed an informed consent, and the study was previously approved by our institutional review board. The cohort of patients scored 60 in 22 of 25 facets, with no grade less than 50. The facet of positive feelings note was 76.79; self-esteem and body image scored, respectively, 75.00 and 85.71. When the facets were grouped into domains, they had a high overall score. The cohort of Apert patients presented a satisfactory quality of life. This cohort of Apert patients acquired the necessary repertoire to manage the aversive daily situations of their lives. PMID:22777480

  13. Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol.

    PubMed

    David, David J; Anderson, Peter; Flapper, Walter; Syme-Grant, Jonathan; Santoreneos, Steven; Moore, Mark

    2016-07-01

    The complex, progressive, multisystem nature of Apert syndrome presents many challenges to managing surgeons. Based on the pioneering work of Paul Tessier, the senior author developed a multidisciplinary birth to maturity management protocol for Apert syndrome. Between 1975 and 2014 the Australian Craniofacial Unit has treated 174 Apert syndrome patients and 28 have completed full protocol management. This paper reviews the scientific contribution made to the management of Apert syndrome by the Australian Craniofacial Unit, the development and evolution of the protocol and presents comprehensive data on the surgical and nonsurgical craniofacial interventions, and outcomes for the 28 patients who have completed the programme; 26 had normal visual acuity, 22 had normal hearing, 20 achieved normal or nearly normal speech, 24 a functional class I occlusion, 18 completed mainstream schooling of whom at least 8 went on to tertiary education, at least 13 gained employment and 15 developed good social groups. These outcomes equal or exceed those presented by other authors and provide compelling evidence of the value of protocol management in clinical outcomes, in addition to their value in international collaboration, and scientific development of future therapeutic strategies for the management of Apert syndrome. PMID:27380568

  14. Comparing patients with Apert and Crouzon syndromes--clinical features and cranio-maxillofacial surgical reconstruction.

    PubMed

    Stavropoulos, Dimitrios; Tarnow, Peter; Mohlin, Bengt; Kahnberg, Karl-Erik; Hagberg, Catharina

    2012-01-01

    Cranio-maxillofacial malformations, as seen in Crouzon and Apert syndromes, may impose an immense distress on both function and aesthetics of the person affected. The aims of this study were to describe and compare the main facial and intraoral features of patients with Apert and Crouzon syndromes, the clinical manifestations that may be present, additionally to the main syndromic traits, as well as the cranio-maxillofacial surgical treatment protocols followed.Twenty-three patients with Apert syndrome (6 males, 17 females), and 28 patients with Crouzon syndrome (20 males, 8 females) were evaluated for general medical aspects, craniofacial characteristics, dentoalveolar traits before and after the final orthognathic surgery, and types and timing of cranio-maxillofacial operations. Mental retardation, associated additional malformations, cleft palate, and extensive lateral palatal soft tissue swellings were more common in children with Apert syndrome. In both syndromes, clinical findings included concave profile, negative overjet, posterior crossbites, anterior openbite, and dental midline deviation, which were corrected in almost all cases with the final orthognathic surgery, with the exception of the lateral crossbites, including more than one tooth pair, which were persisting in about half of the cases. Cranial vault decompression and/or reshaping, midfacial and orbital advancement procedures, often in conjunction with a mandibular setback, were the most frequent cranio-maxillofacial operations performed. In conclusion, Apert syndrome is more asymmetric in nature and a more severe clinical entity than Crouzon syndrome. The syndromic dentofacial features of both conditions could be significantly improved after a series of surgical procedures in almost all cases with the exception of the posterior crossbites, with haIf of them persisting post-surgically. PMID:22611902

  15. From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome

    PubMed Central

    Martínez-Abadías, Neus; Holmes, Greg; Pankratz, Talia; Wang, Yingli; Zhou, Xueyan; Jabs, Ethylin Wang; Richtsmeier, Joan T.

    2013-01-01

    SUMMARY Apert syndrome is a congenital disorder characterized by severe skull malformations and caused by one of two missense mutations, S252W and P253R, on fibroblast growth factor receptor 2 (FGFR2). The molecular bases underlying differential Apert syndrome phenotypes are still poorly understood and it is unclear why cleft palate is more frequent in patients carrying the S252W mutation. Taking advantage of Apert syndrome mouse models, we performed a novel combination of morphometric, histological and immunohistochemical analyses to precisely quantify distinct palatal phenotypes in Fgfr2+/S252W and Fgfr2+/P253R mice. We localized regions of differentially altered FGF signaling and assessed local cell patterns to establish a baseline for understanding the differential effects of these two Fgfr2 mutations. Palatal suture scoring and comparative 3D shape analysis from high resolution μCT images of 120 newborn mouse skulls showed that Fgfr2+/S252W mice display relatively more severe palate dysmorphologies, with contracted and more separated palatal shelves, a greater tendency to fuse the maxillary-palatine sutures and aberrant development of the inter-premaxillary suture. These palatal defects are associated with suture-specific patterns of abnormal cellular proliferation, differentiation and apoptosis. The posterior region of the developing palate emerges as a potential target for therapeutic strategies in clinical management of cleft palate in Apert syndrome patients. PMID:23519026

  16. 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

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

    PubMed Central

    Slaney, S. F.; Oldridge, M.; Hurst, J. A.; Moriss-Kay, G. M.; Hall, C. M.; Poole, M. D.; Wilkie, A. O.

    1996-01-01

    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. Images Figure 1 Figure 2 Figure 3 Figure 4 PMID:8651276

  18. 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.

  19. Frontal sinus mucocele development in an adult patient with Apert syndrome.

    PubMed

    Brown, Emile Nathaniel; Yuan, Nance; Stanwix, Matthew; Rodriguez, Eduardo D; Dorafshar, Amir H

    2013-01-01

    Frontal sinus mucoceles may present many years after traumatic injuries or surgical procedures involving the frontal bone, but have been rarely reported after fronto-orbital advancement. We describe a case of frontal sinus mucocele development in a 43-year-old patient with Apert syndrome who underwent fronto-orbital advancement as a child. This was treated with resection and free fibula osteomuscular flap reconstruction. Computer-aided design and manufacturing techniques were used to virtually plan the procedure and guide the osteotomies intraoperatively. Follow-up at 1 year postoperatively revealed no evidence of recurrence. PMID:23348310

  20. 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

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

    PubMed Central

    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

  2. FGF/FGFR Signaling Coordinates Skull Development by Modulating Magnitude of Morphological Integration: Evidence from Apert Syndrome Mouse Models

    PubMed Central

    Martínez-Abadías, Neus; Heuzé, Yann; Wang, Yingli; Jabs, Ethylin Wang; Aldridge, Kristina; Richtsmeier, Joan T.

    2011-01-01

    The fibroblast growth factor and receptor system (FGF/FGFR) mediates cell communication and pattern formation in many tissue types (e.g., osseous, nervous, vascular). In those craniosynostosis syndromes caused by FGFR1-3 mutations, alteration of signaling in the FGF/FGFR system leads to dysmorphology of the skull, brain and limbs, among other organs. Since this molecular pathway is widely expressed throughout head development, we explore whether and how two specific mutations on Fgfr2 causing Apert syndrome in humans affect the pattern and level of integration between the facial skeleton and the neurocranium using inbred Apert syndrome mouse models Fgfr2+/S252W and Fgfr2+/P253R and their non-mutant littermates at P0. Skull morphological integration (MI), which can reflect developmental interactions among traits by measuring the intensity of statistical associations among them, was assessed using data from microCT images of the skull of Apert syndrome mouse models and 3D geometric morphometric methods. Our results show that mutant Apert syndrome mice share the general pattern of MI with their non-mutant littermates, but the magnitude of integration between and within the facial skeleton and the neurocranium is increased, especially in Fgfr2+/S252W mice. This indicates that although Fgfr2 mutations do not disrupt skull MI, FGF/FGFR signaling is a covariance-generating process in skull development that acts as a global factor modulating the intensity of MI. As this pathway evolved early in vertebrate evolution, it may have played a significant role in establishing the patterns of skull MI and coordinating proper skull development. PMID:22053191

  3. 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 ...

  4. Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome

    PubMed Central

    Yeh, Erika; Fanganiello, Roberto D.; Sunaga, Daniele Y.; Zhou, Xueyan; Holmes, Gregory; Rocha, Katia M.; Alonso, Nivaldo; Matushita, Hamilton; Wang, Yingli; Jabs, Ethylin W.; Passos-Bueno, Maria Rita

    2013-01-01

    Apert syndrome (AS), the most severe form craniosynostosis, is characterized by premature fusion of coronal sutures. Approximately 70% of AS patients carry S252W gain-of-function mutation in FGFR2. Besides the cranial phenotype, brain dysmorphologies are present and are not seen in other FGFR2-asociated craniosynostosis, such as Crouzon syndrome (CS). Here, we hypothesized that S252W mutation leads not only to overstimulation of FGFR2 downstream pathway, but likewise induces novel pathological signaling. First, we profiled global gene expression of wild-type and S252W periosteal fibroblasts stimulated with FGF2 to activate FGFR2. The great majority (92%) of the differentially expressed genes (DEGs) were divergent between each group of cell populations and they were regulated by different transcription factors. We than compared gene expression profiles between AS and CS cell populations and did not observe correlations. Therefore, we show for the first time that S252W mutation in FGFR2 causes a unique cell response to FGF2 stimulation. Since our gene expression results suggested that novel signaling elicited by mutant FGFR2 might be associated with central nervous system (CNS) development and maintenance, we next investigated if DEGs found in AS cells were also altered in the CNS of an AS mouse model. Strikingly, we validated Strc (stereocilin) in newborn Fgfr2S252W/+ mouse brain. Moreover, immunostaining experiments suggest a role for endothelial cells and cerebral vasculature in the establishment of characteristic CNS dysmorphologies in AS that has not been proposed by previous literature. Our approach thus led to the identification of new target genes directly or indirectly associated with FGFR2 which are contributing to the pathophysiology of AS. PMID:23593218

  5. Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome.

    PubMed

    Yeh, Erika; Atique, Rodrigo; Fanganiello, Roberto Dalto; Sunaga, Daniele Yumi; Ishiy, Felipe Augusto André; Passos-Bueno, Maria Rita

    2016-08-15

    Apert Syndrome (AS) is one of the most severe forms of craniosynostosis. It is caused by gain-of-function mutations in the receptor fibroblast growth factor receptor 2 (FGFR2), which leads to ligand-receptor promiscuity. Here, we aimed to better understand the behavior of mesenchymal stem cells (MSCs) and of fibroblastoid cells, cellular populations that are part of the suture complex, when stimulated with different fibroblast growth factors (FGFs). We also aimed to verify whether FGFR2 specificity loss due to AS mutations would change their signaling behavior. We tested this hypothesis through cell proliferation and differentiation assays and through gene expression profiling. We found that FGF19 and FGF10 increase proliferation of fibroblastoid cells harboring the FGFR2 p.S252W mutation, but not of mutant MSCs. FGF19 and FGF10 were associated with different expression profiles in p.S252W cells. Further, in accordance to our gene expression microarray data, FGF19 decreases bone differentiation rate of mutant fibroblastoid cells and increases bone differentiation rate of MSCs. This effect in osteogenesis appears to be mediated by BMP signaling. The present data indicate that non-natural FGFR2 ligands, such as FGF10 and FGF19, are important factors in the pathophysiology of AS. Further research is needed to determine the role of modulation of MSC proliferation or use of FGF19 or anti-BMP2 as inhibitors of osteogenesis in AS subjects' cells, and whether these findings can be used in the clinical management of AS. PMID:27339175

  6. Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R)

    PubMed Central

    Du, Xiaolan; Weng, Tujun; Sun, Qidi; Su, Nan; Chen, Zhi; Qi, Huabing; Jin, Ming; Yin, Liangjun; He, Qifen; Chen, Lin

    2010-01-01

    Apert syndrome is caused mainly by gain-of-function mutations of fibroblast growth factor receptor 2. We have generated a mouse model (Fgfr2+/P253R) mimicking human Apert syndrome resulting from fibroblast growth factor receptor 2 Pro253Arg mutation using the knock-in approach. This mouse model in general has the characteristic skull morphology similar to that in humans with Apert syndrome. To characterize the detailed changes of form in the overall skull and its major anatomic structures, euclidean distance matrix analysis was used to quantitatively compare the form and growth difference between the skulls of mutants and their wild-type controls. There were substantial morphological differences between the skulls of mutants and their controls at 4 and 8 weeks of age (P<0.01). The mutants showed shortened skull dimensions along the rostrocaudal axis, especially in their face. The width of the frontal bone and the distance between the two orbits were broadened mediolaterally. The neurocrania were significantly increased along the dorsoventral axis and slightly increased along the mediolateral axis, and also had anteriorly displayed opisthion along the rostrocaudal axis. Compared with wild-type, the mutant mandible had an anteriorly displaced coronoid process and mandibular condyle along the rostrocaudal axis. We further found that there was catch-up growth in the nasal bone, maxilla, zygomatic bone and some regions of the mandible of the mutant skulls during the 4–8-week interval. The above-mentioned findings further validate the Fgfr2+/P253R mouse strain as a good model for human Apert syndrome. The changes in form characterized in this study will help to elucidate the mechanisms through which the Pro253Arg mutation in fibroblast growth factor receptor 2 affects craniofacial development and causes Apert syndrome. PMID:20557404

  7. Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R).

    PubMed

    Du, Xiaolan; Weng, Tujun; Sun, Qidi; Su, Nan; Chen, Zhi; Qi, Huabing; Jin, Ming; Yin, Liangjun; He, Qifen; Chen, Lin

    2010-08-01

    Apert syndrome is caused mainly by gain-of-function mutations of fibroblast growth factor receptor 2. We have generated a mouse model (Fgfr2(+/P253R)) mimicking human Apert syndrome resulting from fibroblast growth factor receptor 2 Pro253Arg mutation using the knock-in approach. This mouse model in general has the characteristic skull morphology similar to that in humans with Apert syndrome. To characterize the detailed changes of form in the overall skull and its major anatomic structures, euclidean distance matrix analysis was used to quantitatively compare the form and growth difference between the skulls of mutants and their wild-type controls. There were substantial morphological differences between the skulls of mutants and their controls at 4 and 8 weeks of age (P < 0.01). The mutants showed shortened skull dimensions along the rostrocaudal axis, especially in their face. The width of the frontal bone and the distance between the two orbits were broadened mediolaterally. The neurocrania were significantly increased along the dorsoventral axis and slightly increased along the mediolateral axis, and also had anteriorly displayed opisthion along the rostrocaudal axis. Compared with wild-type, the mutant mandible had an anteriorly displaced coronoid process and mandibular condyle along the rostrocaudal axis. We further found that there was catch-up growth in the nasal bone, maxilla, zygomatic bone and some regions of the mandible of the mutant skulls during the 4-8-week interval. The above-mentioned findings further validate the Fgfr2(+/P253R) mouse strain as a good model for human Apert syndrome. The changes in form characterized in this study will help to elucidate the mechanisms through which the Pro253Arg mutation in fibroblast growth factor receptor 2 affects craniofacial development and causes Apert syndrome. PMID:20557404

  8. 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

  9. Paternal occupational exposures and the risk of Down syndrome.

    PubMed Central

    Olshan, A F; Baird, P A; Teschke, K

    1989-01-01

    An exploratory case-control study of paternal occupation as a risk factor for Down syndrome was conducted. With the use of the British Columbia Health Surveillance Registry, 1,008 cases of live-born Down syndrome were identified for the period 1952-73. Two controls were matched to each case by using the birth files of British Columbia. Paternal occupation was obtained from the birth notice. Elevated maternal age-adjusted relative risks of Down syndrome were found for fathers employed as janitors (odds ratio [OR] = 3.26; 95% confidence interval [C.I.] = 1.02-10.44); mechanics (OR = 3.27; C.I. = 1.57-6.80); farm managers/workers (OR = 2.03; C.I. = 1.25-3.03); material-moving equipment operators (OR = 1.88; C.I. = 0.93-3.82); food processors (OR = 1.79; C.I. = 0.96-3.31); sheet-metal workers, iron workers, and other metalworkers (OR = 1.57; C.I. = 0.92-2.69); and sawmill workers (OR = 1.43; C.I. = 0.90-2.66). This large study provides new leads for further evaluation of the role of paternal exposures in the etiology of Down syndrome. PMID:2523192

  10. [Acrocephalosyndactyly I (Apert syndrome)].

    PubMed

    Linss, G

    2000-09-01

    A fourteen years old girl showed the classic signs of acrocephalosyndactyly I: dysostosis craniofacialis with hypertelorism, exophthalmus, strabism, amblyopia and cleft palate as well as syndactyly of the fingers and toes. The feet showed on both side a 6 cm long horny band. Since the twelfth year of life, she had suffered from papulo-pustular acne with many comedomes. Her menstruation started one year later. Intellectual development was normal. At time of her birth, her father was 54 years old, and her mother 36 years old. Two elder siblings are healthy. The inheritance of acrocephalosyndactyly I is usually autosomal dominant, but sporadic cases are frequent. PMID:11057397

  11. 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

  12. Inhibited Wnt Signaling Causes Age-Dependent Abnormalities in the Bone Matrix Mineralization in the Apert Syndrome FGFR2S252W/+ Mice

    PubMed Central

    Zhang, Li; Chen, Peng; Chen, Lin; Weng, Tujun; Zhang, Shichang; Zhou, Xia; Zhang, Bo; Liu, Luchuan

    2015-01-01

    Apert syndrome (AS) is a type of autosomal dominant disease characterized by premature fusion of the cranial sutures, severe syndactyly, and other abnormalities in internal organs. Approximately 70% of AS cases are caused by a single mutation, S252W, in fibroblast growth factor receptor 2 (FGFR2). Two groups have generated FGFR2 knock-in mice Fgfr2S252W/+ that exhibit features of AS. During the present study of AS using the Fgfr2S252W/+ mouse model, an age-related phenotype of bone homeostasis was discovered. The long bone mass was lower in 2 month old mutant mice than in age-matched controls but higher in 5 month old mutant mice. This unusual phenotype suggested that bone marrow-derived mesenchymal stem cells (BMSCs), which are vital to maintain bone homeostasis, might be involved. BMSCs were isolated from Fgfr2S252W/+ mice and found that S252W mutation could impair osteogenic differentiation BMSCs but enhance mineralization of more mature osteoblasts. A microarray analysis revealed that Wnt pathway inhibitors SRFP1/2/4 were up-regulated in mutant BMSCs. This work provides evidence to show that the Wnt/β-catenin pathway is inhibited in both mutant BMSCs and osteoblasts, and differentiation defects of these cells can be ameliorated by Wnt3a treatment. The present study suggested that the bone abnormalities caused by deregulation of Wnt pathway may underlie the symptoms of AS. PMID:25693202

  13. Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells.

    PubMed

    Lu, Changming; Huguley, Samuel; Cui, Chun; Cabaniss, Lauren B; Waite, Peter D; Sarver, David M; Mamaeva, Olga A; MacDougall, Mary

    2016-01-01

    The Apert syndrome is a rare congenital disorder most often arising from S252W or P253R mutations in fibroblast growth factor receptor (FGFR2). Numerous studies have focused on the regulatory role of Apert FGFR2 signaling in bone formation, whereas its functional role in tooth development is largely unknown. To investigate the role of FGFR signaling in cell proliferation and odontogenic differentiation of human dental cells in vitro, we isolated dental pulp and enamel organ epithelia (EOE) tissues from an Apert patient carrying the S252W FGFR2 mutation. Apert primary pulp and EOE cells were established and shown to exhibit normal morphology and express alkaline phosphatase under differentiation conditions. Similar to control cells, Apert dental pulp and EOE cells expressed all FGFRs, with highest levels of FGFR1 followed by FGFR2 and low levels of FGFR3 and FGFR4. However, Apert cells had increased cell growth compared with control cells. Distinct from previous findings in osteoblast cells, gain-of-function S252W FGFR2 mutation did not upregulate the expression of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor (PDGFRα), but elevated extracellular signal-regulated kinase (ERK) signaling in cells after EGF stimulation. Unexpectedly, there was little effect of the S252W mutation on odontogenic gene expression in dental pulp and EOE cells. However, after inhibition of total FGFR signaling or ERK signaling, the expression of odontogenic genes was upregulated in both dental cell types, indicating the negative effect of whole FGFR signaling on odontogenic differentiation. This study provides novel insights on FGFR signaling and a common Apert FGFR2 mutation in the regulation of odontogenic differentiation of dental mesenchymal and epithelial cells. PMID:26613250

  14. 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…

  15. 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.

  16. 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

  17. 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

  18. 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

  19. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

    PubMed Central

    Slavotinek, A; Gaunt, L; Donnai, D

    1997-01-01

    We present a three generation family in which a father and son have a balanced chromosome translocation between the short arms of chromosomes 5 and 11 (karyotype 46,XY,t(5;11)(p15.3;p15.3)). Two family members have inherited the unbalanced products of this translocation and are trisomic for chromosome 11p15.3-->pter and monosomic for chromosome 5p15.3-->pter (karyotype 46,XY,der(5)t(5;11)(p15.3;p15.3)pat). Paternally derived duplications of 11p15.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for 11p15.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of BWS patients who have a paternally derived duplication of 11p15.5 and provide evidence for a distinct pattern of dysmorphic features in those with this chromosome duplication. Interestingly, our family is the fifth unrelated family to be reported with a balanced reciprocal translocation between the short arms of chromosomes 5 and 11. The apparently non-random nature of this particular chromosome translocation is suggestive of sequence homology between the two chromosome regions involved in the translocation. Images PMID:9350814

  20. Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.

    PubMed

    Ohtsuka, Y; Higashimoto, K; Sasaki, K; Jozaki, K; Yoshinaga, H; Okamoto, N; Takama, Y; Kubota, A; Nakayama, M; Yatsuki, H; Nishioka, K; Joh, K; Mukai, T; Yoshiura, K-i; Soejima, H

    2015-09-01

    Approximately 20% of Beckwith-Wiedemann syndrome (BWS) cases are caused by mosaic paternal uniparental disomy of chromosome 11 (pUPD11). Although pUPD11 is usually limited to the short arm of chromosome 11, a small minority of BWS cases show genome-wide mosaic pUPD (GWpUPD). These patients show variable clinical features depending on mosaic ratio, imprinting status of other chromosomes, and paternally inherited recessive mutations. To date, there have been no reports of a mosaic GWpUPD patient with an autosomal recessive disease caused by a paternally inherited recessive mutation. Here, we describe a patient concurrently showing the clinical features of BWS and autosomal recessive cystinuria. Genetic analyses revealed that the patient has mosaic GWpUPD and an inherited paternal homozygous mutation in SLC7A9. This is the first report indicating that a paternally inherited recessive mutation can cause an autosomal recessive disease in cases of GWpUPD mosaicism. Investigation into recessive mutations and the dysregulation of imprinting domains is critical in understanding precise clinical conditions of patients with mosaic GWpUPD. PMID:25171146

  1. Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

    PubMed Central

    Goriely, Anne; Wilkie, Andrew O.M.

    2012-01-01

    Advanced paternal age has been associated with an increased risk for spontaneous congenital disorders and common complex diseases (such as some cancers, schizophrenia, and autism), but the mechanisms that mediate this effect have been poorly understood. A small group of disorders, including Apert syndrome (caused by FGFR2 mutations), achondroplasia, and thanatophoric dysplasia (FGFR3), and Costello syndrome (HRAS), which we collectively term “paternal age effect” (PAE) disorders, provides a good model to study the biological and molecular basis of this phenomenon. Recent evidence from direct quantification of PAE mutations in sperm and testes suggests that the common factor in the paternal age effect lies in the dysregulation of spermatogonial cell behavior, an effect mediated molecularly through the growth factor receptor-RAS signal transduction pathway. The data show that PAE mutations, although arising rarely, are positively selected and expand clonally in normal testes through a process akin to oncogenesis. This clonal expansion, which is likely to take place in the testes of all men, leads to the relative enrichment of mutant sperm over time—explaining the observed paternal age effect associated with these disorders—and in rare cases to the formation of testicular tumors. As regulation of RAS and other mediators of cellular proliferation and survival is important in many different biological contexts, for example during tumorigenesis, organ homeostasis and neurogenesis, the consequences of selfish mutations that hijack this process within the testis are likely to extend far beyond congenital skeletal disorders to include complex diseases, such as neurocognitive disorders and cancer predisposition. PMID:22325359

  2. 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.

  3. Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.

    PubMed

    Gogiel, Magdalena; Begemann, Matthias; Spengler, Sabrina; Soellner, Lukas; Göretzlehner, Ulf; Eggermann, Thomas; Strobl-Wildemann, Gertrud

    2013-07-01

    Uniparental disomy (UPD) of single chromosomes is a well-known molecular aberration in a group of congenital diseases commonly known as imprinting disorders (IDs). Whereas maternal and/or paternal UPD of chromosomes 6, 7, 11, 14 and 15 are associated with specific IDs (Transient neonatal diabetes mellitus, Silver-Russell syndrome, Beckwith-Wiedemann syndrome (BWS), upd(14)-syndromes, Prader-Willi syndrome, Angelman Syndrome), the other autosomes are not. UPD of the whole genome is not consistent with life, in case of non-mosaic genome-wide paternal UPD (patUPD) it leads to hydatidiform mole. In contrast, mosaic genome-wide patUPD might be compatible with life. Here we present a 19-year-old woman with BWS features and initially diagnosed to be carrier of a mosaic patUPD of chromosome 11p15. However, the patient presented further clinical findings not typically associated with BWS, including nesidioblastosis, fibroadenoma, hamartoma of the liver, hypoglycaemia and ovarian steroid cell tumour. Additional molecular investigations revealed a mosaic genome-wide patUPD. So far, only nine cases with mosaic genome-wide patUPD and similar clinical findings have been reported, but these patients were nearly almost diagnosed in early childhood. Summarising the data from the literature and those from our patient, it can be concluded that the mosaic genome-wide patUPD (also known as androgenic/biparental mosaicism) might explain unusual BWS phenotypes. Thus, these findings emphasise the need for multilocus testing in IDs to efficiently detect cases with disturbances affecting more than one chromosome. PMID:23188046

  4. 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

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

    PubMed Central

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

    1996-01-01

    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. Images Figure 1 Figure 2 Figure 3 Figure 4 PMID:8751854

  6. Dominant Paternal Transmission of Cornelia de Lange Syndrome: A New Case and Review of 25 Previously Reported Familial Recurrences

    PubMed Central

    Russell, Karen L.; Ming, Jeffrey E.; Patel, Ketan; Jukofsky, Lori; Magnusson, Mark; Krantz, Ian D.

    2016-01-01

    The Cornelia de Lange syndrome (CdLS) is an autosomal dominant multisystem disorder characterized by somatic and cognitive retardation, characteristic facial features, limb abnormalities, hearing loss, and other organ system involvement. The vast majority of cases (99%) are sporadic, with rare familial occurrences having been reported. Most individuals with CdLS do not reproduce as a result of the severity of the disorder. Maternal transmission has been well documented, as have several cases of multiple-affected children being born to apparently unaffected parents. Paternal transmission has rarely been reported. A case is reported here of a father with classic features of CdLS with a similarly affected daughter. A review of the reported familial cases of CdLS is summarized. PMID:11754058

  7. Long-Term Consequences for Offspring of Paternal Diabetes and Metabolic Syndrome

    PubMed Central

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

    2012-01-01

    Background. Recent studies have reported an increase in the prevalence of obesity and metabolic syndrome in children and adolescents. However, few have focused how diabetes mellitus and metabolic syndrome together in parents can influence on obesity and metabolic disturbances in offspring. Objective. To know the risk obesity and metabolic disturbance in children, adolescents, and young adults whose parents have diabetes mellitus and metabolic syndrome. Methods. A comparative survey was made in healthy children of parents with diabetes mellitus and metabolic syndrome compared with offspring of healthy parents. We performed anthropometry and evaluated blood pressure, glucose, total cholesterol, HDL cholesterol, and triglycerides levels in plasma. We registered parent antecedents to diabetes mellitus and metabolic syndrome and investigated the prevalence of overweight, obesity, and metabolic disturbances in offspring. Results. We studied 259 subjects of 7 to 20 years of age. The prevalence of overweight and obesity was 27% and 37%, respectively. The highest proportion of BMI >95th of the entire group was found in offspring with both diabetic parents. Glucose and total cholesterol levels were lower in the group with healthy parents compared with the group with diabetic mother and metabolic syndrome but with healthy father. HDL cholesterol was higher in the group with both healthy parents than in the group with diabetic mother and metabolic syndrome but healthy father. Conclusions. The offspring of parents with diabetes plus metabolic syndrome showed higher proportion of variables related to metabolic syndrome compared with healthy parents. PMID:23193389

  8. Paternity testing.

    PubMed

    Onoja, A M

    2011-01-01

    Molecular diagnostic techniques have found application in virtually all areas of medicine, including criminal investigations and forensic analysis. The techniques have become so precise that it is now possible to conclusively determine paternity using DNA from grand parents, cousins, or even saliva left on a discarded cigarette butt. This is a broad overview of paternity testing. PMID:22288312

  9. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

    PubMed

    Takama, Yuichi; Kubota, Akio; Nakayama, Masahiro; Higashimoto, Ken; Jozaki, Kosuke; Soejima, Hidenobu

    2014-12-01

    Herein is described a case of breast fibroadenomas in a 16-year-old girl with Beckwith-Wiedemann syndrome (BWS) and uniparental disomy (UPD) of chromosome 11p15.5. She was clinically diagnosed with BWS and direct closure was performed for an omphalocele at birth. Subtotal and 90% pancreatectomy were performed for nesidioblastosis at the ages 2 months and 8 years, respectively. Bilateral multiple breast fibroadenomas were noted at the age of 16 and 17 years. In this case, paternal UPD of chromosome 11p15.5 was identified on microsatellite marker analysis. The relevant imprinted chromosomal region in BWS is 11p15.5, and UPD of chromosome 11p15 is a risk factor for BWS-associated tumorigenicity. Chromosome 11p15.5 consists of imprinting domains of IGF2, the expression of which is associated with the tumorigenesis of various breast cancers. This case suggests that fibroadenomas occurred in association with BWS. PMID:25521982

  10. 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.

  11. 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…

  12. 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

  13. 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.

  14. Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues

    PubMed Central

    Heuzé, Yann; Singh, Nandini; Basilico, Claudio; Jabs, Ethylin Wang; Holmes, Greg; Richtsmeier, Joan T

    2014-01-01

    Bones of the craniofacial skeleton are derived from two distinct cell lineages, cranial neural crest and mesoderm, and articulate at sutures and synchondroses which represent major bone growth sites. Premature fusion of cranial suture(s) is associated with craniofacial dysmorphogenesis caused in part by alteration in the growth potential at sutures and can occur as an isolated birth defect or as part of a syndrome, such as Apert syndrome. Conditional expression of the Apert FGFR2 S252W mutation in mesoderm was previously shown to be necessary and sufficient to cause coronal craniosynostosis. Here we used micro computed tomography images of mice expressing the Apert mutation constitutively in either mesoderm or neural crest to quantify craniofacial shape variation and suture fusion patterns, and to identify shape changes in craniofacial bones derived from the lineage not expressing the mutation, referred to here as secondary shape changes. Our results show that at postnatal day 0: (i) conditional expression of the FGFR2 S252W mutation in neural crest-derived tissues causes a more severe craniofacial phenotype than when expressed in mesoderm-derived tissues; and (ii) both mesoderm- and neural crest-specific mouse models display secondary shape changes. We also show that premature suture fusion is not necessarily dependent on the expression of the FGFR2 S252W mutation in the sutural mesenchyme. More specifically, it appears that suture fusion patterns in both mouse models are suture-specific resulting from a complex combination of the influence of primary abnormalities of biogenesis or signaling within the sutures, and timing. PMID:24632501

  15. Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 Deficiency

    PubMed Central

    Prando, Carolina; Boisson-Dupuis, Stéphanie; Grant, Audrey; Kong, Xiao-Fei; Bustamante, Jacinta; Feinberg, Jacqueline; Chapgier, Ariane; Rose, Yoann; Jannière, Lucile; Rizzardi, Elena; Zhang, Qiuping; Shanahan, Catherine M; Viollet, Louis; Lyonnet, Stanislas; Abel, Laurent; Ruga, Ezia Maria; Casanova, Jean-Laurent

    2010-01-01

    Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN-γR1) deficiency is a genetic etiology of MSMD. We describe the clinical and genetic features of a seven-year-old Italian boy suffering from MSMD associated with a complex phenotype, including neonatal hyperglycemia, neuromuscular disease, and dysmorphic features. The child also developed necrotizing pneumonia caused by Rhodococcus equi. The child is homozygous for a nonsense mutation in exon 3 of IFNGR1 as a result of paternal uniparental disomy (UPD) of the entire chromosome 6. This is the first reported case of uniparental disomy resulting in a complex phenotype including MSMD. PMID:20186794

  16. Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.

    PubMed

    Cocchi, Guido; Marsico, Concetta; Cosentino, Anita; Spadoni, Chiara; Rocca, Alessandro; De Crescenzo, Agostina; Riccio, Andrea

    2013-10-01

    Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation, facial dysmorphism and body asymmetry. One of the main molecular mechanisms leading to the syndrome involves methylation abnormalities of chromosome 11p15. In the last decades, an increase of imprinting disorders have been reported in children born from assisted reproductive technology (ART); however there is currently little evidence linking SRS and ART. Only few infants with SRS born using ART, supported by molecular analysis, have been described. We report on a twin-girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with SRS. Molecular studies revealed a hypomethylation of the paternal H19/IGF2 Imprinting Control Region. Her twin sister had a normal prenatal and postnatal growth and a normal methylation pattern of the chromosome 11p15. This is the second reported case of a twin infant with SRS conceived using ART with hypomethylation of H19/IGF2; it provides additional evidence of a possible relationship between ART procedures and methylation defects observed in SRS. Given the clinical heterogeneity of SRS, and the increased risk of multiple and preterm births in the ART-conceived children, it is possible that a number of cases of SRS remains undiagnosed in this population. Future studies should investigate the possible link between ART and SRS, in order to better understand the causes of epimutations in ART pregnancies, and to help clinicians to adequately counsel parents who approach to ART and to assess the opportunity of a long-term follow-up of children conceived using ART. PMID:24038823

  17. 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

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

    2016-03-01

    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 p57(Kip2) 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

  18. 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

  19. Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.

    PubMed

    Venegas-Vega, Carlos A; Fernández-Ramírez, Fernando; Zepeda, Luis M; Nieto-Martínez, Karem; Gómez-Laguna, Laura; 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

  20. 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

  1. Paternity fraud and compensation for misattributed paternity

    PubMed Central

    Draper, Heather

    2007-01-01

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

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

    PubMed

    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

  3. 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

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

    PubMed Central

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

    2010-01-01

    Prader–Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy, followed by morbid obesity secondary to hyperphagia. It is caused by deficiency of paternally expressed transcript(s) within the human chromosome region 15q11.2. PWS patients harboring balanced chromosomal translocations with breakpoints within small nuclear ribonucleoprotein polypeptide N (SNRPN) have provided indirect evidence for a role for the imprinted C/D box containing small nucleolar RNA (snoRNA) genes encoded downstream of SNRPN. In addition, recently published data provide strong evidence in support of a role for the snoRNA SNORD116 cluster (HBII-85) in PWS etiology. In this study, we performed detailed phenotypic, cytogenetic, and molecular analyses including chromosome analysis, array comparative genomic hybridization (array CGH), expression studies, and single-nucleotide polymorphism (SNP) genotyping for parent-of-origin determination of the 15q11.2 microdeletion on an 11-year-old child expressing the major components of the PWS phenotype. This child had an ∼236.29 kb microdeletion at 15q11.2 within the larger Prader–Willi/Angelman syndrome critical region that included the SNORD116 cluster of snoRNAs. Analysis of SNP genotypes in proband and mother provided evidence in support of the deletion being on the paternal chromosome 15. This child also met most of the major PWS diagnostic criteria including infantile hypotonia, early-onset morbid obesity, and hypogonadism. Identification and characterization of this case provide unequivocal evidence for a critical role for the SNORD116 snoRNA molecules in PWS pathogenesis. Array CGH testing for genomic copy-number changes in cases with complex phenotypes is proving to be invaluable in detecting novel alterations and enabling better genotype–phenotype correlations. PMID:20588305

  5. 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). PMID:17928093

  6. 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

  7. 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.

  8. 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

  9. 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.

  10. Disclosing misattributed paternity.

    PubMed

    Ross, Lainie Friedman

    1996-04-01

    In 1994, the Committee on Assessing Genetic Risks of the Institute of Medicine published their recommendations regarding the ethical issues raised by advances in genetics. One of the Committee's recommendations was to inform women when test results revealed misattributed paternity, but not to disclose this information to the women's partners. The Committee's reason for withholding such information was that "genetic testing should not be used in ways that disrupt families". In this paper, I argue that the Committee's conclusion in favour of non-disclosure to the male partner is unethical. I argue that both parties ought to be informed. PMID:11653245

  11. 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.

  12. Probability of paternity in paternity testing using the DNA fingerprint procedure.

    PubMed

    Honma, M; Ishiyama, I

    1989-01-01

    For the purpose of applying DNA fingerprinting to paternity testing, we established a general formula to calculate the probability of paternity and evaluated the ability of DNA fingerprinting to determine paternity. PMID:2591980

  13. Hospital Based Paternity Establishment in Colorado.

    ERIC Educational Resources Information Center

    Pearson, Jessica; Thoennes, Nancy

    1997-01-01

    Describes the impact of the Colorado's Child Support Improvement Project on voluntary paternity acknowledgment rate, which increased almost 24% from 1991 to 1994. Program activities include simplifying voluntary acknowledgment procedures and training hospital personnel on paternity. Voluntary paternity acknowledgment is associated with the…

  14. Prescription drug laws: justified hard paternalism.

    PubMed

    Rainbolt, George W

    1989-01-01

    Prescription drug laws are justified as examples of permissible hard paternalism and not as soft paternalism, which is morally legitimated by the defective cognitive or affective state of the individual on whose behalf the action is performed. Other examples of hard paternalism are considered, along with two strategies for determining the limits of paternalism. It is concluded that instances of permissible hard paternalism exist and that the only acceptable strategy is to balance harm and benefit on a case-by-case basis. PMID:11650113

  15. 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

  16. 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

  17. What makes male mice paternal?

    PubMed

    Elwood, R W

    1986-07-01

    Both copulation and postcopulatory cohabitation with pregnant females reduce infanticide and enhance paternal responsiveness in male CS1 mice. The effectiveness of copulation in this process, however, depends on the number of occasions that males have previously encountered infants. Infanticidal males which have been subordinated in brief encounters with other males are less likely to commit infanticide in subsequent tests than are those which became dominant to other males. Males which copulate and cohabit with a relatively large female are less likely to be infanticidal than are those with a relatively small female. These data suggest that males are subordinated after copulation by their mates and that this subordination is a factor in the reduction of infanticide and the initiation of paternal responsiveness. PMID:3729896

  18. 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…

  19. 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.

  20. [Forensic hematology genetics--paternity testing].

    PubMed

    Kratzer, A; Bär, W

    1997-05-01

    In Switzerland paternity investigations are carried out using DNA analysis only since 1991. DNA patterns are inherited and only with the exception of genetically identical twins they are different in everyone and therefore unique to an individual. Hence DNA-systems are an excellent tool to resolve paternity disputes. DNA polymorphisms used for paternity diagnosis are length polymorphisms of the highly polymorphic VNTR loci [variable number of tandem repeats]. The most frequently applied systems are the DNA single locus systems. In addition to the DNA single locus systems the application of PCR (PCR = polymerase chain reaction) based DNA systems has increased particularly in difficult deficiency cases or in cases where only small evidential samples or partially degraded DNA are available. Normally four independent DNA single probes are used to produce a DNA profile from the mother, the child and the alleged father. A child inherits half the DNA patterns from its mother and the other half from its true biological father. If an alleged father doesn't possess the paternal specific DNA pattern in his DNA profile he is excluded from the paternity. In case of non-exclusion the probability for paternity is calculated according to Essen-Möller. When applying four highly polymorphic DNA single locus systems the biostatistical evaluation leads always to W-values exceeding 99.8% [= required value for positive proof of paternity]. DNA analysis is currently the best available method to achieve such effective conclusions in paternity investigations. PMID:9244998

  1. Teenage Paternity, Child Support, and Crime.

    ERIC Educational Resources Information Center

    Pirog-Good, Maureen A.

    1988-01-01

    Examines the relationship between teenage premarital paternity, child support enforcement, and delinquency. The non-random data were gathered from the Marian County, Indiana District Attorney's Office and Juvenile Court. Suggests that the early establishment of paternity should be pursued and that child support enforcement strategies should…

  2. The effects of paternal high-fat diet exposure on offspring metabolism with epigenetic changes in the mouse adiponectin and leptin gene promoters.

    PubMed

    Masuyama, Hisashi; Mitsui, Takashi; Eguchi, Takeshi; Tamada, Shoko; Hiramatsu, Yuji

    2016-07-01

    Recent studies have demonstrated that epigenetic changes resulting from malnutrition might play important roles in transgenerational links with metabolic diseases. Previously, we observed that exposure to a high-fat diet (HFD) in utero caused a metabolic syndrome-like phenomenon through epigenetic modifications of the adiponectin and leptin genes that persisted for multiple generations. Recent etiological studies indicated that paternal BMI had effects on offspring BMI that were independent of but additive to maternal BMI effects. Thus, we examined whether paternal HFD-induced obesity affected the metabolic status of offspring through epigenetic changes in the adiponectin and leptin genes. Additionally, we investigated whether a normal diet during subsequent generations abolished the epigenetic changes associated with paternal HFD exposure before conception. We observed the effects of paternal HFD exposure before conception over multiple generations on offspring metabolic traits, including weight and fat gain, glucose intolerance, hypertriglyceridemia, abnormal adipocytokine levels, hypertension, and adiponectin and leptin gene expression and epigenetic changes. Normal diet consumption by male offspring during the subsequent generation following paternal HFD exposure diminished whereas consumption for two generations completely abolished the effect of paternal HFD exposure on metabolic traits and adipocytokine promoter epigenetic changes in the offspring. The effects of paternal HFD exposure on offspring were relatively weaker than those following HFD exposure in utero. However, paternal HFD exposure had an additive metabolic effect for two generations, suggesting that both paternal and maternal nutrition might affect offspring metabolism through epigenetic modifications of adipocytokine genes for multiple generations. PMID:27245335

  3. Establishing Paternity: An Analysis of Cases from Two Arizona Counties.

    ERIC Educational Resources Information Center

    Nichols-Casebolt, Ann

    1994-01-01

    Used data from sample of 877 child support paternity cases to determine what case characteristics influenced likelihood of successfully establishing paternity. Results indicated demographic differences between cases with and without paternity established but these differences were much less important to establishing paternity than obtaining…

  4. Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

    PubMed Central

    Feuk, Lars; Kalervo, Aino; Lipsanen-Nyman, Marita; Skaug, Jennifer; Nakabayashi, Kazuhiko; Finucane, Brenda; Hartung, Danielle; Innes, Micheil; Kerem, Batsheva; Nowaczyk, Małgorzata J.; Rivlin, Joseph; Roberts, Wendy; Senman, Lili; Summers, Anne; Szatmari, Peter; Wong, Virginia; Vincent, John B.; Zeesman, Susan; Osborne, Lucy R.; Cardy, Janis Oram; Kere, Juha; Scherer, Stephen W.; Hannula-Jouppi, Katariina

    2006-01-01

    Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD—5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development. PMID:17033973

  5. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

    PubMed

    Feuk, Lars; Kalervo, Aino; Lipsanen-Nyman, Marita; Skaug, Jennifer; Nakabayashi, Kazuhiko; Finucane, Brenda; Hartung, Danielle; Innes, Micheil; Kerem, Batsheva; Nowaczyk, Malgorzata J; Rivlin, Joseph; Roberts, Wendy; Senman, Lili; Summers, Anne; Szatmari, Peter; Wong, Virginia; Vincent, John B; Zeesman, Susan; Osborne, Lucy R; Cardy, Janis Oram; Kere, Juha; Scherer, Stephen W; Hannula-Jouppi, Katariina

    2006-11-01

    Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development. PMID:17033973

  6. Paternity testing that involves a DNA mixture.

    PubMed

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

    2016-07-01

    Here we analyse a complex disputed paternity case, where the DNA of the putative father was extracted from his corpse that had been inhumed for over 20 years. This DNA was contaminated and appears to be a mixture of at least two individuals. Furthermore, the mother's DNA was not available. The DNA mixture was analysed so as to predict the most probable genotypes of each contributor. The major contributor's profile was then used to compute the likelihood ratio for paternity. We also show how to take into account a dropout allele and the possibility of mutation in paternity testing. PMID:27017109

  7. Paternal age and mental health of offspring.

    PubMed

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

    2015-06-01

    The influence of paternal age on the risk for sporadic forms of Mendelian disorders is well known, but a burgeoning recent literature demonstrates, in addition, 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 patients, their 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

  8. Ethical aspects of paternal preconception lifestyle modification.

    PubMed

    van der Zee, Boukje; de Wert, Guido; Steegers, Eric A; de Beaufort, Inez D

    2013-07-01

    This Clinical Opinion points to a potential conflict between the scarcity of evidence on paternal preconception risk factors for adverse pregnancy outcomes and the view that preconception care should be also directed at men. We argue that from an ethical perspective, responsible fatherhood starts already before conception, as long as the evidence increases on the benefits of paternal preconception lifestyle (modification). Our explorative study suggests that the strength of the evidence for paternal preconception lifestyle modification is important for men. We argue that 5 aspects together determine the moral responsibility of prospective fathers to modify their behavior: the strength of the evidence of the risk factor, the modifiability of the risk, the efforts necessary to eliminate or diminish the risk factor, the severity of harm, and the probability that harm will occur and that it will be prevented by modifying the risk factor. The case of paternal preconception smoking illustrates the analysis. PMID:23313726

  9. 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

  10. 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.

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

    PubMed Central

    Alonzo, Suzanne H.; Heckman, Kellie L.

    2010-01-01

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

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

    PubMed

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

    1990-03-01

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

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

    PubMed Central

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

    1990-01-01

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

  14. Acne-associated syndromes: models for better understanding of acne pathogenesis.

    PubMed

    Chen, W; Obermayer-Pietsch, B; Hong, J-B; Melnik, B C; Yamasaki, O; Dessinioti, C; Ju, Q; Liakou, A I; Al-Khuzaei, S; Katsambas, A; Ring, J; Zouboulis, C C

    2011-06-01

    Acne, one of the most common skin disorders, is also a cardinal component of many systemic diseases or syndromes. Their association illustrates the nature of these diseases and is indicative of the pathogenesis of acne. Congenital adrenal hyperplasia (CAH) and seborrhoea-acne-hirsutism-androgenetic alopecia (SAHA) syndrome highlight the role of androgen steroids, while polycystic ovary (PCO) and hyperandrogenism-insulin resistance-acanthosis nigricans (HAIR-AN) syndromes indicate insulin resistance in acne. Apert syndrome with increased fibroblast growth factor receptor 2 (FGFR2) signalling results in follicular hyperkeratinization and sebaceous gland hypertrophy in acne. Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) and pyogenic arthritis-pyoderma gangrenosum-acne (PAPA) syndromes highlight the attributes of inflammation to acne formation. Advances in the understanding of the manifestation and molecular mechanisms of these syndromes will help to clarify acne pathogenesis and develop novel therapeutic modalities. PMID:21198949

  15. 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.). PMID:26154720

  16. Single paternity of clutches in American Woodcock

    USGS Publications Warehouse

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

    2000-01-01

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

  17. Paternal psychiatric disorders and children's psychosocial development.

    PubMed

    Ramchandani, Paul; Psychogiou, Lamprini

    2009-08-22

    Psychiatric disorders of parents are associated with an increased risk of psychological and developmental difficulties in their children. Most research has focused on mothers, neglecting psychiatric disorders affecting fathers. We review findings on paternal psychiatric disorders and their effect on children's psychosocial development. Most psychiatric disorders that affect fathers are associated with an increased risk of behavioural and emotional difficulties in their children, similar in magnitude to that due to maternal psychiatric disorders. Some findings indicate that boys are at greater risk than girls, and that paternal disorders, compared with maternal disorders, might be associated with an increased risk of behavioural rather than emotional problems. Improved paternal mental health is likely to improve children's wellbeing and life course. PMID:19411102

  18. 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.

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

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 25 Indians 1 2010-04-01 2010-04-01 false Determination of paternity and support. 11.609 Section 11... OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The Court of Indian Offenses shall have jurisdiction of all suits brought to determine the paternity of...

  20. 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)

  1. Paternal transmission of congenital myotonic dystrophy.

    PubMed Central

    de Die-Smulders, C E; Smeets, H J; Loots, W; Anten, H B; Mirandolle, J F; Geraedts, J P; Höweler, C J

    1997-01-01

    We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late father had the adult type of DM, with onset around 30 years. Only six other cases of paternal transmission of congenital DM have been reported recently. We review the sex related effects on transmission of congenital DM. Decreased fertility of males with adult onset DM and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of congenital DM. Also the fathers of the reported congenitally affected children showed, on average, shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with congenital DM. We conclude that paternal transmission of congenital DM is rare and preferentially occurs with onset of DM past 30 years in the father. Images PMID:9391889

  2. 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…

  3. Daddy issues: paternal effects on phenotype.

    PubMed

    Rando, Oliver J

    2012-11-01

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

  4. 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

  5. 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…

  6. Paternal occupational exposures and childhood cancer.

    PubMed Central

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

    2001-01-01

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

  7. 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…

  8. Adolescent Fathers: The Question of Paternity.

    ERIC Educational Resources Information Center

    Rozie-Battle, Judith L.

    1989-01-01

    Analyzes legislation and court decisions that affect unwed and/or adolescent African-American fathers. Addresses the following concerns: (1) paternity; (2) child support; and (3) legal rights and responsibilities. Recommends development of programs to help potential fathers understand their rights and responsibilities. (FMW)

  9. Blood Group ABO Genotyping in Paternity Testing

    PubMed Central

    Bugert, Peter; Rink, Gabriele; Kemp, Katharina; Klüter, Harald

    2012-01-01

    Background The ABO blood groups result from DNA sequence variations, predominantly single nucleotide and insertion/deletion polymorphisms (SNPs and indels), in the ABO gene encoding a glycosyltransferase. The ABO blood groups A1, A2, B and O predominantly result from the wild type allele A1 and the major gene variants that are characterized by four diallelic markers (261G>del, 802G>A, 803G>C, 1061C>del). Here, we were interested to evaluate the impact of ABO genotyping compared to ABO phenotyping in paternity testing. Methods The major ABO alleles were determined by PCR amplification with sequence-specific primers (PCR-SSP) in a representative sample of 1,335 blood donors. The genotypes were compared to the ABO blood groups registered in the blood donor files. Then, the ABO phenotypes and genotypes were determined in 95 paternity trio cases that have been investigated by 12 short tandem repeat (STR) markers before. We compared statistical parameters (PL, paternity likelihood; PE, power of exclusion) of both blood grouping approaches. Results The prevalence of the major ABO alleles and genotypes corresponded to the expected occurrence of ABO blood groups in a Caucasian population. The low resolution genotyping of 4 diallelic markers revealed a correct genotype-phenotype correlation in 1,331 of 1,335 samples (99.7%). In 60 paternity trios with confirmed paternity of the alleged father based on STR analysis both PL and PE of the ABO genotype was significantly higher than of the ABO phenotype. In 12 of 35 exclusion cases (34.3%) the ABO genotype also excluded the alleged father, whereas the ABO phenotype excluded the alleged father only in 7 cases (20%). Conclusion In paternity testing ABO genotyping is superior to ABO phenotyping with regard to PL and PE, however, ABO genotyping is not sufficient for valid paternity testing. Due to the much lower mutation rate compared to STR markers, blood group SNPs in addition to anonymous SNPs could be considered for future

  10. 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. PMID:24587224

  11. 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.

  12. 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

  13. 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

  14. Genetic conflicts, multiple paternity and the evolution of genomic imprinting.

    PubMed Central

    Spencer, H G; Feldman, M W; Clark, A G

    1998-01-01

    We present nine diallelic models of genetic conflict in which one allele is imprintable and the other is not to examine how genomic imprinting may have evolved. Imprinting is presumed to be either maternal (i.e., the maternally derived gene is inactivated) or paternal. Females are assumed to be either completely monogamous or always bigamous, so that we may see any effect of multiple paternity. In contrast to previous verbal and quantitative genetic models, we find that genetic conflicts need not lead to paternal imprinting of growth inhibitors and maternal imprinting of growth enhancers. Indeed, in some of our models--those with strict monogamy--the dynamics of maternal and paternal imprinting are identical. Multiple paternity is not necessary for the evolution of imprinting, and in our models of maternal imprinting, multiple paternity has no effect at all. Nevertheless, multiple paternity favors the evolution of paternal imprinting of growth inhibitors and hinders that of growth enhancers. Hence, any degree of multiple paternity means that growth inhibitors are more likely to be paternally imprinted, and growth enhancers maternally so. In all of our models, stable polymorphism of imprinting status is possible and mean fitness can decrease over time. Neither of these behaviors have been predicted by previous models. PMID:9504935

  15. 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

  16. 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

  17. 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

  18. 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.

  19. Paternal Fears of Childbirth: A Literature Review

    PubMed Central

    Hanson, Suzanne; Hunter, Lauren P.; Bormann, Jill R.; Sobo, Elisa J.

    2009-01-01

    To date, most studies on paternal childbirth fears have been exploratory or descriptive, conducted outside of the United States, and focused mainly on White, first-time fathers. Identified fears include harm to the mother or newborn, partner pain, feelings of helplessness, lack of knowledge, and fear of high-risk intervention. Fathers often report that childbirth classes are not helpful and, in some cases, even increase their fears. Some fathers view birth as traumatic, changing their perception of and relationship with their partner. Fathers also voice the need for more information and for reassurance that they are doing the right things for their partner during childbirth. This article summarizes the research findings on paternal childbirth fears and recommends topics for future study. PMID:20808424

  20. Strabismus

    MedlinePlus

    ... associated with strabismus in children include: Apert syndrome Cerebral palsy Congenital rubella Hemangioma near the eye during infancy ... Amblyopia Apert syndrome Blindness and vision loss Botulism Cerebral palsy Diabetes Farsightedness Guillain-Barré syndrome Hemangioma Noonan syndrome ...

  1. Paternal transmission of congenital myotonic dystrophy.

    PubMed Central

    Bergoffen, J; Kant, J; Sladky, J; McDonald-McGinn, D; Zackai, E H; Fischbeck, K H

    1994-01-01

    The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families. Images PMID:7966187

  2. 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

  3. 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

  4. 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

  5. Paternity determination when the alleged father's genotypes are unavailable.

    PubMed

    Lee, J W; Lee, H S; Park, M; Hwang, J J

    2001-12-01

    In paternity testing using the DNA evidence, analysis of the deficiency case when the DNA profiles of the alleged father are not available is different from that of the case with complete evidence. In this paper, we describe how to evaluate and determine the paternity in the deficiency case, by comparing the paternity indexes of the true father and the falsely non-excluded man. PMID:11728748

  6. 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

  7. 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

  8. The Palatal and Oral Manifestations of Muenke Syndrome (FGFR3 related craniosynostosis)

    PubMed Central

    Agochukwu, Nneamaka B.; Solomon, Benjamin D.; Doherty, Emily S.; Muenke, Maximilian

    2012-01-01

    Palatal anomalies including cleft palate and higharched palate have been reported in the most common craniosynostosis syndromes, including Pfeiffer syndrome (associated with mutations in FGFR1, FGFR2), Apert syndrome (FGFR2), Muenke syndrome (FGFR3) and Crouzon syndrome (FGFR2). Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenke syndrome to date. Further, to our knowledge, cleft lip and palate has not been reported yet in a patient with Muenke syndrome (a previous patient with isolated cleft palate has been reported). This study sought to evaluate the frequency of palatal anomalies in patients with Muenke syndrome through both a retrospective investigation and literature review. A total of 21 patients who met criteria for this study were included in the retrospective review. 15 patients (71%) had a structural anomaly of the palate. Cleft lip and palate was present in one patient (5%). Other palatal findings included: high arched hard palate in 14 patients (67%). Individuals with Muenke syndrome have the lowest incidence of cleft palate among the most common craniosynostosis syndromes. However, high arched palate in Muenke syndrome is common and may warrant clinical attention, as these individuals are more susceptible to recurrent chronic otitis media with effusion, dental malocclusion and hearing loss. PMID:22565872

  9. Advanced paternal age and reproductive outcome.

    PubMed

    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

  10. 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

  11. 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

  12. 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

  13. Fathers and Families: Paternal Factors in Child Development.

    ERIC Educational Resources Information Center

    Biller, Henry B.

    Examining the implications of research findings concerning the impact of paternal involvement in child development, this book elaborates on how variations in paternal involvement affect many different dimensions of child and parent development. The 12 chapters discuss the role of fathers in regard to: (1) the advantages of two-parent families; (2)…

  14. 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

  15. 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…

  16. First Things First: Paternity and Child Support for Nonmarital Children.

    ERIC Educational Resources Information Center

    Slayton, Ann

    1993-01-01

    Establishing a child's legal paternity is the first step to gaining specific rights and benefits which can be critical to a child's well-being, such as emotional and financial security. Discusses specific procedures that Washington, Virginia, and other states have enacted to more easily establish paternity. (MDM)

  17. 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

  18. 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…

  19. 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

  20. Paternal and sibling incest: a case report.

    PubMed

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

    2006-01-01

    A case is reported of a female victim of paternal incest, who had also been raped repeatedly by her elder brother for two years. A survey of the literature showed no other report of such a case from Turkey. This does not necessarily mean that the incidence of paternal and sibling incest does not happen, but may indicate that incestuous abuse is not reported or handled without making it known to legal authorities. The victim was first raped by her 16 year-old brother when she was 9 years old. He raped her repeatedly over a period of two years, until he left home. Her father began raping the victim when she was 13 year-old, leaving her pregnant at age 15. He took her to a doctor for a termination of pregnancy. The father continued abuse after the termination. The victim left home to marry a man. The father filed a lawsuit against the man for taking the victim away from home. More openness and awareness of incest in Turkey may encourage the victims to seek help from medical and legal authorities. PMID:16310400

  1. 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

  2. Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

    PubMed

    Splendore, Alessandra; Jabs, Ethylin Wang; Félix, Têmis Maria; Passos-Bueno, Maria Rita

    2003-09-01

    In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included. PMID:12939661

  3. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

    PubMed Central

    Agochukwu, Nneamaka B.; Solomon, Benjamin D.; Muenke, Maximilian

    2014-01-01

    Purpose More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses. Methods A comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. Results Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up. Conclusions Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach. PMID:22872262

  4. Evaluation of findings in Crouzon's syndrome.

    PubMed

    Altintas, Ayse Gül Koçak; Gül Aksoy, Fatma Gül; Altintas, Cumhur S.; Midillioglu, Inci Koçak; Duman, Sunay

    1999-12-01

    PURPOSE. The purpose of this study was to investigate the ocular, facial and radiological signs of Crouzon's syndrome in a group of older patients who had not undergone previous craniofacial surgery. METHODS. Six cases of Crouzon's syndrome, four of whom belonged to a three-generation family, were examined systemically, ophthalmologically and roentgenographically; five of these cases were additionally evaluated with computed tomography and compared with Apert syndrome. RESULTS. On radiologic evaluation, all cases had synostosis of all cranial sutures and fontanelles and brachycephalic skulls, crowding of the upper teeth due to maxillary hypoplasia, and serious nasal septum deviation. Bilateral ethmoidal, maxillary and sphenoidal chronic sinusitis was found in 50% of cases. Three patients had hypertelorism and two others had a tendency toward hypertelorism. The typical facial appearance with shallow orbits, globe protrusion and exorbitism was present in all cases. Two of them had V-pattern exotropia while the other four were orthophoric. The single case with mental retardation had bilateral cataract. CONCLUSION. Crouzon's syndrome can present with different findings and must be evaluated multidisciplinarly. PMID:12045969

  5. Informatics-based, highly accurate, noninvasive prenatal paternity testing

    PubMed Central

    Ryan, Allison; Baner, Johan; Demko, Zachary; Hill, Matthew; Sigurjonsson, Styrmir; Baird, Michael L.; Rabinowitz, Matthew

    2013-01-01

    Purpose: The aim of the study was to evaluate the diagnostic accuracy of an informatics-based, noninvasive, prenatal paternity test using array-based single-nucleotide polymorphism measurements of cell-free DNA isolated from maternal plasma. Methods: Blood samples were taken from 21 adult pregnant women (with gestational ages between 6 and 21 weeks), and a genetic sample was taken from the corresponding biological fathers. Paternity was confirmed by genetic testing of the infant, products of conception, control of fertilization, and/or preimplantation genetic diagnosis during in vitro fertilization. Parental DNA samples and maternal plasma cell-free DNA were amplified and analyzed using a HumanCytoSNP-12 array. An informatics-based method measured single-nucleotide polymorphism data, confirming or rejecting paternity. Each plasma sample with a sufficient fetal cell-free DNA fraction was independently tested against the confirmed father and 1,820 random, unrelated males. Results: One of the 21 samples had insufficient fetal cell-free DNA. The test correctly confirmed paternity for the remaining 20 samples (100%) when tested against the biological father, with P values of <10−4. For the 36,400 tests using an unrelated male as the alleged father, 99.95% (36,382) correctly excluded paternity and 0.05% (18) were indeterminate. There were no miscalls. Conclusion: A noninvasive paternity test using informatics-based analysis of single-nucleotide polymorphism array measurements accurately determined paternity early in pregnancy. PMID:23258349

  6. 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. PMID:26893148

  7. [Cytogenetic study of a case of Fanconi's syndrome with a familial pericentric inversion].

    PubMed

    Crippa, L; Ferrier, S

    1975-03-01

    The cytogenetic study of a case of Fanconi syndrome in a 16-year-old boy revealed besides chromosomal breakages, quadriradials and dicentric chromosomes, a pericentric inversion of chromosome No. 1. An uncle and an aunt on the paternal side presented likewise this pericentric inversion, however without breakages or clinical signs of Fanconi syndrome. Another paternal aunt showed short thumbs, but without chromosomal anomalies. The authors point to possible genetic repercussions of this familial pericentric inversion. PMID:1165481

  8. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... through video or audio equipment, and in writing, of the alternatives to, the legal consequences of,...

  9. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... through video or audio equipment, and in writing, of the alternatives to, the legal consequences of,...

  10. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... through video or audio equipment, and in writing, of the alternatives to, the legal consequences of,...

  11. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... through video or audio equipment, and in writing, of the alternatives to, the legal consequences of,...

  12. 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)

  13. Multilocus DNA fingerprinting: the independence problem in quantitative paternity testing.

    PubMed

    Krawczak, M

    1994-02-01

    A simulation study was performed in order to determine whether or not the assumption of independence, made in the quantitative analysis of multilocus DNA fingerprints, represents an inadmissible over-simplification. A total of 10,000 cases of true and false paternity, respectively, were simulated in twenty replicas of various genetic models. Log-likelihood ratios (paternity vs. non-paternity; LR) were calculated using published likelihood formulae and assuming position-wise independence. The resulting LR distributions were compared to (i) the results of a classical analysis of the underlying genotype data, and (ii) the distributions expected from the likelihood model employed in the LR calculations. Although considerable discrepancies were observed between these distributions, decision making about paternity appeared to be only marginally affected, especially when only a fraction of each multilocus DNA fingerprint was analyzed. PMID:8026429

  14. Male age mediates reproductive investment and response to paternity assurance

    PubMed Central

    Benowitz, Kyle M.; Head, Megan L.; Williams, Camellia A.; Moore, Allen J.; Royle, Nick J.

    2013-01-01

    Theory predicts that male response to reduced paternity will depend on male state and interactions between the sexes. If there is little chance of reproducing again, then males should invest heavily in current offspring, regardless of their share in paternity. We tested this by manipulating male age and paternity assurance in the burying beetle Nicrophorus vespilloides. We found older males invested more in both mating effort and parental effort than younger males. Furthermore, male age, a component of male state, mediated male response to perceived paternity. Older males provided more prenatal care, whereas younger males provided less prenatal care, when perceived paternity was low. Adjustments in male care, however, did not influence selection acting indirectly on parents, through offspring performance. This is because females adjusted their care in response to the age of their partner, providing less care when paired with older males than younger males. As a result offspring, performance did not differ between treatments. Our study shows, for the first time, that a male state variable is an important modifier of paternity–parental care trade-offs and highlights the importance of social interactions between males and females during care in determining male response to perceived paternity. PMID:23782889

  15. 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.

  16. 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:…

  17. 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

  18. 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

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

    PubMed Central

    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

  1. 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

  2. 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

  3. 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

  4. Maternal and paternal imprisonment in the stress process.

    PubMed

    Foster, Holly; Hagan, John

    2013-05-01

    Parental incarceration is now prevalent in community samples (e.g., with 11% of children reporting paternal imprisonment and 3% reporting maternal imprisonment in a national sample), pointing to a potentially important childhood trauma that should be included in work on contemporary childhood stressors in this era of mass incarceration. This paper investigates the influences of maternal and paternal imprisonment on changes in young adult mental health using a nationally representative sample. We assess four perspectives-gendered loss, same-sex role model, intergenerational stress, and maternal salience - on the joint influences of maternal and paternal incarceration within the broader stress process paradigm. The results generalize support for a gendered loss perspective developed in work on parental death and an early small study of parental incarceration. This pattern reveals maternal incarceration increases depressive symptoms while paternal incarceration increases substance role problems. Chronicity of parental imprisonment and its timing are also influential. Analyses further specify a vulnerability of male and minority young adults to high levels of mental health problems following maternal and paternal incarceration in adolescence. PMID:23521986

  5. 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

  6. 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

  7. The Effect of Paternal Incarceration on Material Hardship

    PubMed Central

    Schwartz-Soicher, Ofira; Geller, Amanda; Garfinkel, Irwin

    2013-01-01

    High rates of incarceration among American men, coupled with a high prevalence of fatherhood among the incarcerated, have led to millions of children and families whose fathers are, or have been, in the nation’s jails and prisons. This study uses data from the Fragile Families and Child Wellbeing Survey to estimate the extent to which paternal incarceration increases family material hardship. Analyses from a series of longitudinal regression models suggest that material hardship is statistically significant and positively associated with paternal incarceration. These hardships are found to reflect not only a reduction in fathers’ income and financial contributions but also an increase in financial and other family strains. The findings underscore the challenges facing families with incarcerated fathers. They also emphasize the need for efforts by criminal justice agencies and social service providers to help mitigate the risks associated with paternal incarceration. PMID:24839314

  8. 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

  9. 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

  10. 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.

  11. Does multiple paternity improve fitness of the frog Crinia georgiana?

    PubMed

    Byrne, P G; Roberts, J D

    2000-06-01

    In the Australian myobatrachid frog Crinia georgiana simultaneous polyandry occurs in about half of all matings, which leads to multiple paternity, but reduced fertilization success and occasional female mortality. Multiple paternity may provide benefits to females that compensate for these costs, for example, through enhanced genetic diversity of a clutch. In nature, embryos and tadpoles of C. georgiana develop in shallow, temporary pools and may be exposed to fluctuating water levels and the risk of desiccation between rain events. Fertilization by genetically diverse sires may act as a bet hedge against these conditions. To evaluate this hypothesis, females were artificially mated with one or two males in the field and eggs and larvae reared in the laboratory under constant or fluctuating developmental conditions. Experiment 1 exposed embryos from single- and multiple-paternity clutches to conditions where eggs were completely covered during development or eggs sat in air on a moist substrate. Experiment 2 exposed freshly hatched larvae from single- and multiple-paternity clutches to constant wet conditions, where larvae were completely covered, or fluctuating wet conditions, where larvae ranged from being completely submersed to partially exposed over a 13-day cycle. We measured mean performance and best performance as alternate measures of genetic benefits. There were no effects of paternity on percent survival to hatching, time to hatching, body size at hatching, percent survival to metamorphosis, time to metamorphosis, or body size at metamorphosis. We also analyzed variance within clutches as a measure of genetic diversity. Again there were no predictable effects of multiple paternity. Polyandry does not appear to provide any genetic benefits that compensate for the high costs of polyandry in this species. PMID:10937269

  12. Paternity in patients with bilateral testicular germ cell tumors.

    PubMed

    Heidenreich, A; Vorreuther, R; Neubauer, S; Zumbe, J; Engelmann, U H

    1997-01-01

    We report on the finding of paternity in 1 patient with metachronous bilateral testis germ cell tumor (BTGCT) and in another patient with a unilateral testicular germ cell tumor and contralateral carcinoma in situ (CIS). These cases demonstrate that patients with BTGCT or CIS in their solitary testicle are not necessarily infertile. Surveillance might be a therapeutic modality in patients with contralateral CIS and active spermatogenesis and the desire for paternity assumed that they are included in close follow-up protocols. PMID:9076475

  13. 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

  14. 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

  15. 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.…

  16. 26 CFR 1.410(a)-9 - Maternity and paternity absence.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 26 Internal Revenue 5 2010-04-01 2010-04-01 false Maternity and paternity absence. 1.410(a)-9... Maternity and paternity absence. (a) Elapsed time—(1) Rule. For purposes of applying the rules of § 1.410(a...)(5)(E) and 411(a)(6)(E) (relating to maternity or paternity absence), the severance from service...

  17. For Your Child's Sake...Establish Paternity [and] Collect Child Support.

    ERIC Educational Resources Information Center

    Administration for Children, Youth, and Families (DHHS), Washington, DC.

    These brochures explain briefly the importance of establishing paternity for unwed mothers. By establishing paternity and enforcing child support orders, fathers can be required to help raise their child legally and financially. The brochures consist of two separate sheets. "For Your Child's Sake...Establish Paternity" presents several questions…

  18. The Doctor's Dilemma: Paternalisms in the Medicolegal History of Assisted Reproduction and Abortion.

    PubMed

    Swanson, Kara W

    2015-01-01

    This article analyzes the comparative history of the law and practice of abortion and assisted reproduction in the United States to consider the interplay between medical paternalism and legal paternalism. It supplements existing critiques of paternalism as harmful to women's equality with the medical perspective, as revealed through the writings of Alan F. Guttmacher, to consider when legal regulation might be warranted. PMID:26242953

  19. Paternal Factors and Schizophrenia Risk: De Novo Mutations and Imprinting

    PubMed Central

    Malaspina, Dolores

    2010-01-01

    There is a strong genetic component for schizophrenia risk, but it is unclear how the illness is maintained in the population given the significantly reduced fertility of those with the disorder. One possibility is that new mutations occur in schizophrenia vulnerability genes. If so, then those with schizophrenia may have older fathers, because advancing paternal age is the major source of new mutations in humans. This review describes several neurodevelopmental disorders that have been associated with de novo mutations in the paternal germ line and reviews data linking increased schizophrenia risk with older fathers. Several genetic mechanisms that could explain this association are proposed, including paternal germ line mutations, trinucleotide repeat expansions, and alterations in genetic imprinting in one or several genes involved in neurodevelopment. Animal models may be useful in exploring these and other explanations for the paternal age effect and they may provide a novel approach for gene identification. Finally, it is proposed that environmental exposures of the father, as well as those of the mother and developing fetus, may be relevant to the etiology of schizophrenia. PMID:11596842

  20. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 45 Public Welfare 2 2013-10-01 2012-10-01 true Establishment of paternity. 303.5 Section 303.5 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 STANDARDS FOR PROGRAM OPERATIONS §...

  1. 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…

  2. Paternal age and the occurrence of birth defects.

    PubMed Central

    Lian, Z H; Zack, M M; Erickson, J D

    1986-01-01

    The association between paternal age and the occurrence of birth defects was studied using data collected in Metropolitan Atlanta. Paternal-age information for babies born with defects was obtained from birth certificates, hospital records, and interviews with mothers; for babies born without defects, the information was obtained from birth certificates. Several statistical techniques were used to evaluate the paternal-age-birth-defects associations for 86 groups of defects. Logistic regression analysis that controlled for maternal age and race indicated that older fathers had a somewhat higher risk for having babies with defects, when all types of defects were combined; an equivalent association for older mothers was not found. Logistic regression analyses also indicated modestly higher risks for older fathers for having babies with ventricular septal defects and atrial septal defects and substantially higher risks for having babies with defects classified in the category chondrodystrophy (largely sporadic achondroplasia) and babies with situs inversus. An association between elevated paternal age and situs inversus has not been reported before; the magnitude of the estimated increased risk for situs inversus was about the same as that found in this study for chondrodystrophy. PMID:3788977

  3. Paternity testing in an autotetraploid alfalfa breeding polycross

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  4. 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.

  5. 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...

  6. 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...

  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. Male reproductive skew, paternal relatedness, and female social relationships.

    PubMed

    Schülke, Oliver; Ostner, Julia

    2008-07-01

    Female social relationships among primates are thought to be shaped by socio-ecological factors and phylogenetic constraints. We suggest that patterns of paternal relatedness among females influence measures of social tolerance that have been used to classify species into different social relationship categories. As kin support and kin preference have only been measured for matrilineal kin and related individuals exchange less aggression and have a higher conciliatory tendency, the observed low nepotism levels and high tolerance levels may be an artifact of hidden paternal relatedness among the nonkin category. Using comparative data on macaques, we investigate this hypothesis using male reproductive skew as a proxy for paternal relatedness. Within the limitations of the study we show that populations classified as being less nepotistic, and more tolerant exhibit higher levels of reproductive skew. This first result and the reasoning behind may motivate future students of social relationships to take paternal relatedness into consideration. Potential implications of this finding if repeated with larger samples include that variation in aspects of macaque social relationships may be explained without considering phylogeny or the strength of between-group contest competition for food. PMID:18421769

  9. 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…

  10. 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…

  11. polypatex: an r package for paternity exclusion in autopolyploids.

    PubMed

    Zwart, Alexander B; Elliott, Carole; Hopley, Tara; Lovell, David; Young, Andrew

    2016-05-01

    Microsatellite markers have demonstrated their value for performing paternity exclusion and hence exploring mating patterns in plants and animals. Methodology is well established for diploid species, and several software packages exist for elucidating paternity in diploids; however, these issues are not so readily addressed in polyploids due to the increased complexity of the exclusion problem and a lack of available software. We introduce polypatex, an r package for paternity exclusion analysis using microsatellite data in autopolyploid, monoecious or dioecious/bisexual species with a ploidy of 4n, 6n or 8n. Given marker data for a set of offspring, their mothers and a set of candidate fathers, polypatex uses allele matching to exclude candidates whose marker alleles are incompatible with the alleles in each offspring-mother pair. polypatex can analyse marker data sets in which allele copy numbers are known (genotype data) or unknown (allelic phenotype data) - for data sets in which allele copy numbers are unknown, comparisons are made taking into account all possible genotypes that could arise from the compared allele sets. polypatex is a software tool that provides population geneticists with the ability to investigate the mating patterns of autopolyploids using paternity exclusion analysis on data from codominant markers having multiple alleles per locus. PMID:26613799

  12. 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…

  13. Testosterone and paternal care in East African foragers and pastoralists.

    PubMed

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

    2009-01-22

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

  14. Predictors of Paternal Involvement Postdivorce: Mothers' and Fathers' Perceptions.

    ERIC Educational Resources Information Center

    Ahrons, Constance R.

    1983-01-01

    Examined the relationship between paternal involvement postdivorce and the divorced coparental relationship. Interviews with 54 pairs of ex-spouses showed mothers and fathers had different perceptions of the father's involvement. The coparental relationship was a significant predictor of both mothers' and fathers' perceptions of the father's…

  15. [Family law, witness of the analysis of prenatal paternity].

    PubMed

    Rodríguez López, Raquel; Marfil, Jorge A; González Poveda, Pedro

    2009-01-01

    The authors analyse from a scientific and legal perspective, how paternity analysis in the prenatal period can be reliably performed exactly the same as with newborns, and therefore, establish kinship in accordance with established regulations. In other words, there is an option for those who might not want to wait until birth to establish kinship. PMID:19860347

  16. 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

  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. 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.

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

    PubMed

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

    2012-04-01

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

  1. 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

  2. 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

  3. Maternal Depression, Paternal Psychopathology, and Toddlers’ Behavior Problems

    PubMed Central

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

    2013-01-01

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

  4. The palatal ruga pattern in possible paternity determination.

    PubMed

    Thomas, C J; Kotze, T J; Nash, J M

    1986-01-01

    The use of a genetic marker in paternity determination has been successful with the ABO blood group system but unsuccessful in dermatoglyphics and palatal rugae because the genetic mechanism is polygenic. The palatal rugae of 17 families (34 parents and 49 children) were classified and recorded, and the data used to construct a statistical analysis system (SAS) cluster map. A positive result would have meant a father clustering with all his children at Level 83, where, in fact, the best result achieved was at Level 5. The best cluster occurred at Level 82 between the ten-year-old boy of Family 7 and the eleven-year-old girl of Family 3. It is thus clear that the palatal rugae cannot be used in a practical procedure to determine paternity. PMID:3944569

  5. Multiple paternity in polyandrous barn owls (Tyto alba).

    PubMed

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

    2013-01-01

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

  6. 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

  7. 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

  8. Primate paternal care: Interactions between biology and social experience.

    PubMed

    Storey, Anne E; Ziegler, Toni E

    2016-01-01

    This article is part of a Special Issue "Parental Care".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 may be 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 partners and offspring. PMID:26253726

  9. Experimental Analysis of a Paternally Inherited Extrachromosomal Factor

    PubMed Central

    Werren, John H.; van den Assem, Johannes

    1986-01-01

    Virtually all known cases of extrachromosomal inheritance involve cytoplasmic inheritance through the maternal line. Recently, a paternally transmitted factor that causes the production of all-male families has been discovered in a parasitic wasp. The wasp has haplodiploid sex determination: male offspring are haploid and usually develop from unfertilized eggs, whereas females are diploid and usually develop from fertilized eggs. It has been postulated that this paternal sex-ratio factor (psr) is either (1) an infectious agent (a venereal disease) that is transmitted to the female reproductive tract during copulation with an infected male and, subsequently, causes all-male families or (2) a male cytoplasmic factor that is transmitted by sperm to eggs upon egg fertilization and, somehow, causes loss of the paternal set of chromosomes.—Experimental evidence is presented which shows that the factor requires egg fertilization for transmission to the next generation; therefore, it is likely to be a cytoplasmic factor. Significant potential intragenomic conflict results from the presence of this factor and two other sex-ratio distorters in this wasp species. PMID:17246344

  10. [The experience of paternity during adolescence in a low-income Brazilian community].

    PubMed

    Hoga, Luiza Akiko Komura; Reberte, Luciana Magnoni

    2009-03-01

    There are gaps in the knowledge related to paternity during adolescence. This investigation had the purpose to explore the experiences of paternity during adolescence. The investigation method was the thematic oral history, with 19 members of a low-income Brazilian community being interviewed. The categories describing the experience were: a) Gaps in sexual education, lack of attention to contraceptive methods and the desire for fatherhood contributed for the occurrence of paternity during adolescence; b) The adolescents were surprised by pregnancy and assumed the paternal responsibilities as best as they could; c) Paternity during adolescence meant a faster process of maturation and having their lives transformed; d) Regret or happiness: distinct results of paternity in adolescence. Interventions focused on adolescents must be performed in safe, ethical and contextualized ways. PMID:19437861

  11. Perceived quality of early paternal relationships and mental health in adulthood.

    PubMed

    Goodwin, Renee D; Styron, Thomas H

    2012-09-01

    We aimed to determine the association between perceived paternal relationships and mental health and social functioning among adults in the community. Data were drawn from the National Comorbidity Survey (N = 8098), a nationally representative sample of adults aged 15 to 54 years in the United States. Multiple logistic regression analyses were used to assess the relationships between quality of paternal relationship in childhood and current mental disorders, quality of current social relationships, and attachment style. Poor paternal relationship was associated with a significantly increased likelihood of mood and anxiety disorders. Poorer quality of paternal relationships was also associated with poorer current social functioning and avoidant and dependent attachment styles. Our findings suggest that quality of paternal relationships is associated with mental health and social functioning in adulthood and highlight a need for increased understanding of the role of paternal relationships in social/emotional development. PMID:22922234

  12. [Paternity testing based on the analysis of DNA and its revision].

    PubMed

    Vrtĕl, R; Vodicka, R; Loyka, S; Santavý, J

    2008-01-01

    Paternity testing is nowadays mostly based on the analysis of DNA short tandem repeats (STR). Number and selection of STR loci differ according to identification kit producers and also particular laboratories. This article refers a revision of formerly excluded paternity. The cause of the mismatch was revealed by the enlargement of STR loci panel and reciprocal evaluation of samples and paternity was on the contrary confirmed. Different possibilities of failures, their consequences and preventions are also discussed. PMID:18335642

  13. Spatial patterns of extra-pair paternity: beyond paternity gains and losses.

    PubMed

    Schlicht, Lotte; Valcu, Mihai; Kempenaers, Bart

    2015-03-01

    Most studies on extra-pair paternity (EPP) focus either on a specific male's extra-pair gains or his extra-pair losses. For an individual bird however, mate choice or mate availability may underlie strong spatial restrictions. Disregarding this spatial aspect may underestimate or mask effects of parameters influencing observed EPP patterns. Here, we propose a spatially explicit model for investigating the probability of having extra-pair offspring (EPO) within local networks of breeding pairs. The data set includes all realized and unrealized potential extra-pair matings. This method is biologically meaningful because it allows (a) considering both members of an extra-pair mating and their social mates, and (b) direct modelling of the spatial context in which extra-pair behaviour occurs. The method has the advantage that it can provide inference about the relative contribution of spatial and non-spatial parameters, and about the relative importance of male and female neighbourhoods. We apply this method to parentage data from 1025 broods collected over 12 breeding seasons in two independent study populations of blue tits (Cyanistes caeruleus). We investigate a set of predictions based on the EPP literature, namely that EPP depends on male age and body size, breeding density and breeding synchrony. In all analyses, we control for breeding distance, a parameter that is expected to influence EPP even under random mating. The results show that older and larger males were more likely to sire EPO, but both effects decreased with increasing breeding distance. Local breeding density but not synchrony predicted whether a particular male-female combination had EPO, at least in one of the study areas. Apart from breeding distance, male age had the strongest effect on EPP, followed by a measure of breeding density. The method thus allows a comprehensive assessment of the relative importance of different types of spatial and non-spatial parameters to explain variation in the

  14. Genetic structure of Tunisian ethnic groups revealed by paternal lineages.

    PubMed

    Fadhlaoui-Zid, Karima; Martinez-Cruz, Begoña; Khodjet-el-khil, Houssein; Mendizabal, Isabel; Benammar-Elgaaied, Amel; Comas, David

    2011-10-01

    Tunisia has experienced a variety of human migrations that have modeled the myriad cultural groups inhabiting the area. Both Arabic and Berber-speaking populations live in Tunisia. Berbers are commonly considered as in situ descendants of peoples who settled roughly in Palaeolithic times, and posterior demographic events such as the arrival of the Neolithic, the Arab migrations, and the expulsion of the "Moors" from Spain, had a strong cultural influence. Nonetheless, the genetic structure and the population relationships of the ethnic groups living in Tunisia have been poorly assessed. In order to gain insight into the paternal genetic landscape and population structure, more than 40 Y-chromosome single nucleotide polymorphisms and 17 short tandem repeats were analyzed in five Tunisian ethnic groups (three Berber-speaking isolates, one Andalusian, and one Cosmopolitan Arab). The most common lineage was the North African haplogroup E-M81 (71%), being fixed in two Berber samples (Chenini-Douiret and Jradou), suggesting isolation and genetic drift. Differential levels of paternal gene flow from the Near East were detected in the Tunisian samples (J-M267 lineage over 30%); however, no major sub-Saharan African or European influence was found. This result contrasts with the high amount of sub-Saharan and Eurasian maternal lineages previously described in Tunisia. Overall, our results reveal a certain genetic inter-population diversity, especially among Berber groups, and sexual asymmetry, paternal lineages being mostly of autochthonous origin. In addition, Andalusians, who are supposed to be migrants from southern Spain, do not exhibit any substantial contribution of European lineages, suggesting a North African origin for this ethnic group. PMID:21915847

  15. 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

  16. 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.

  17. 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. PMID:26549254

  18. 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. PMID:16685730

  19. 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

  20. Every Child Deserves Two Parents: Establishing Paternity for Children of Single Teenage Mothers.

    ERIC Educational Resources Information Center

    Wise, Janet M.

    Single teenage parents and expectant parents in four community-based programs were provided with information about establishing the paternity of their children. The information presented included the benefits, obligations and consequences of paternity establishment for the mother, father, child and society. The goal was to educate single teenagers…

  1. 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…

  2. 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…

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

    PubMed

    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

  4. 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

  5. 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

  6. 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…

  7. 32 CFR 733.5 - Determination of paternity and support of illegitimate children.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... by the marriage unless a court finds the child to be illegitimate. (b) Judicial order or decree of paternity or support. Normally any order or decree which specifies the obligation to render support of... determination of paternity. Either type of order or decree falls within the scope of this paragraph. If...

  8. 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…

  9. 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…

  10. Genetic Mapping of Psm, A Unique Locus Controlling Paternal Sorting of the Mitochondrial DNA

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Passage of cucumber (Cucumis sativus) through cell cultures produces plants with a distinctive mosaic (MSC) phenotype that shows paternal transmission. The mitochondrial (mt) DNA of cucumber is paternally transmitted and the MSC phenotype is associated with rearrangements in the mt DNA. We identif...

  11. 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…

  12. 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. PMID:25381114

  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. Relationship of personal-social variables to belief in paternalism in parent caregiving situations.

    PubMed

    Cicirelli, V G

    1990-09-01

    Paternalism in family caregiving may jeopardize the older persons' autonomy; it needs to be better understood. Study objectives were to determine the relationship of belief in paternalism to personal-social characteristics and to determine the relative importance of these variables as predictors of belief in paternalism. Forty-six pairs of daughters (age 49.7) and mothers (age 77.7) were measured on belief in paternalism, dogmatism, attitude toward elders, affective feelings toward the other, and background and caregiving variables. Among both mothers and daughters, dogmatism and attitude toward elders were related to belief in paternalism; daughters' affective feelings was also related. Caregiving variables were unrelated, and demographic background was important only for daughters. Attitude toward elders was the strongest predictor. Results were interpreted in terms of a traditional family ideology. PMID:2242251

  15. 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

  16. 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

  17. 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

  18. 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

  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. Analysis of microsatellites and paternity testing in Rasa Aragonesa sheep.

    PubMed

    Arruga, M V; Monteagudo, L V; Tejedor, M T; Barrao, R; Ponz, R

    2001-06-01

    Four microsatellite loci (MAF50, MAF18, OarFCB20 and MCM527) were studied in Rasa Aragonesa sheep in order to evaluate their use in paternity testing. Several population characteristics were estimated [allele frequencies. effective allele number (Ne), polymorphism informative content (PIC) and probability of excluding wrong paternities (Pe)]. In 32 randomly chosen individuals, four alleles were detected for MAF50, with 2.55 effective alleles, 0.58 PIC and 0.35 Pe. For MAF18, five alleles were identified, with 2.99 effective alleles, 0.51 PIC and 0.32 Pe. For oarFCB20, 10 alleles were observed, with 6.06 effective alleles, 0.82 PIC and 0.68 Pe. Finally, for MCM527, six alleles were found, with 3.75 effective alleles, 0.69 PIC and 0.50 Pe. When these loci were used together with serum transferrin locus, Pe rose to 97.20 per cent. Field trials confirmed the real usefulness of these techniques. PMID:11676626

  1. 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

  2. Measuring paternal discrepancy and its public health consequences.

    PubMed

    Bellis, Mark A; Hughes, Karen; Hughes, Sara; Ashton, John R

    2005-09-01

    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. 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

  4. 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

  5. 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.

  6. 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

  7. [The paternal constellation: a pilot study in prenatal period.].

    PubMed

    Cupa, D; Riazuelo-Deschamps, H

    2001-01-01

    In a research where the authors had argued that some maternal prenatal representations concerning the infant had a decisive impact on precocious interactions (Cupa et al., 1992), they have asked in parallel, what was the weight on these very same interactions of paternal representations during pregnancy, knowing that in this specific period psychic reorganization of the father are profound (Bouchard-Godard, 1976; Cupa et al., 1997). If, in the intertwining of the two theoretical fields where the authors situate their work, being that of psychoanalysis and developmental psychology, there is a an important literature on the father, results and contribution allow to appreciate the impact of studies on the father during pregnancy and present theoretical points of reference of the authors' hypotheses. The presentation of the following study is that of a comparative longitudinal research carried out from the 7th month of pregnancy to 9 months after birth. It appeared indeed to the authors that in order to explore simultaneously the two representational universes and to observe the effects on the triadic interactions, this type of methodology was the most relevant. The results proposed in the last part, only concern the analysis of paternal representations. PMID:18253593

  8. Paternal reproductive success drives sex allocation in a wild mammal.

    PubMed

    Douhard, Mathieu; Festa-Bianchet, Marco; Coltman, David W; Pelletier, Fanie

    2016-02-01

    Parents should bias sex allocation toward offspring of the sex most likely to provide higher fitness returns. Trivers and Willard proposed that for polygynous mammals, females should adjust sex-ratio at conception or bias allocation of resources toward the most profitable sex, according to their own body condition. However, the possibility that mammalian fathers may influence sex allocation has seldom been considered. Here, we show that the probability of having a son increased from 0.31 to 0.60 with sire reproductive success in wild bighorn sheep (Ovis canadensis). Furthermore, our results suggest that females fertilized by relatively unsuccessful sires allocated more energy during lactation to daughters than to sons, while the opposite occurred for females fertilized by successful sires. The pattern of sex-biased offspring production appears adaptive because paternal reproductive success reduced the fitness of daughters and increased the average annual weaning success of sons, independently of maternal allocation to the offspring. Our results illustrate that sex allocation can be driven by paternal phenotype, with profound influences on the strength of sexual selection and on conflicts of interest between parents. PMID:26792564

  9. Paternal employment in solvent related occupations and adverse pregnancy outcomes.

    PubMed

    Daniell, W E; Vaughan, T L

    1988-03-01

    Washington State birth certificates were examined for associations between adverse pregnancy outcomes and paternal employment in solvent exposed occupations. Four cohorts defined by live, singleton births to fathers usually employed as auto body shop workers, painters (construction and maintenance), printers, or fibreglass workers were compared retrospectively with both a systematically selected control cohort and a low solvent exposed, occupationally defined control cohort (paternal electricians). The effects of maternal race and medical illness were controlled by sample restriction; maternal age and gravidity by stratified analysis. There was evidence of increased risk of low birth weight for infants born to fathers employed as body shop workers (relative risk = 1.6; 95% confidence interval = 1.1-2.4) or painters (RR = 1.4; CI = 0.9-2.1) when compared with the systematically selected controls but not with the electrician controls. The excess risk appeared stronger when only term infants were analysed suggesting a mechanism of growth retardation rather than prematurity. There was no evidence of increased risk among the other exposed cohorts or for other adverse pregnancy outcomes. Several design features limit the interpretation of the findings and confirmation by other studies is needed. PMID:3348995

  10. 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