New Perspectives on Rodent Models of Advanced Paternal Age: Relevance to Autism

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Claire J Foldi

2011-06-01

Full Text Available Offspring of older fathers have an increased risk of various adverse health outcomes, including autism and schizophrenia. With respect to biological mechanisms for this association, there are many more germline cell divisions in the life history of a sperm relative to that of an oocyte. This leads to more opportunities for copy error mutations in germ cells from older fathers. Evidence also suggests that epigenetic patterning in the sperm from older men is altered. Rodent models provide an experimental platform to examine the association between paternal age and brain development. Several rodent models of advanced paternal age (APA have been published with relevance to intermediate phenotypes related to autism. All four published APA models vary in key features creating a lack of consistency with respect to behavioural phenotypes. A consideration of common phenotypes that emerge from these APA-related mouse models may be informative in the exploration of the molecular and neurobiological correlates of APA.

Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis

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Michael Castro

2016-07-01

Full Text Available Background: Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported. Case Report: Paternal transmission of a germline BRCA2 mutation to a patient who was diagnosed at age 40 with locally advanced breast and pancreas cancer is presented. Somatic genomic analysis of both cancers with next-generation DNA sequencing confirmed the germline result and reported a variety of variants of unknown significance alterations, of which two were present in both the breast and pancreas cancers. Discussion: The possibility that genomic alterations could have been responsible for modulating the phenotypic or clinical expression of this rare presentation is considered. The authors call attention to the practice of privatizing the clinicogenetic information gained from genetic testing and call for health policy that will facilitate sharing in order to advance the outcomes of patients diagnosed with hereditary cancers.

Elevated paternal glucocorticoid exposure modifies memory retention in female offspring.

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

2017-09-01

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

Effects of a Paternal Participation Program during Cesarean Section on Paternal Infant Attachment

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Hyun Kyoung Kim

2013-06-01

Full Text Available PurposeIn this study effects of a paternal participation program during cesarean section on paternal infant attachment were investigate. The experimental treatment was an integrative nursing intervention to promote father to infant attachment.MethodsStudy design was a non-equivalent control group posttest design. The program consisted of emotional support to spouse and father towards infant attachment immediately following cesarean birth. Participants were 66 men, partners of women with normal full term pregnancy having a cesarean section with spinal or epidural anesthesia, (experimental group, 34; control group, 32. The experiment was carried out from August 1 to October 30, 2010. Control group data were obtained from May 1 to June 30, 2012. Posttest was performed 72 hours after cesarean birth. A self-report questionnaire including a paternal attachment instrument was used. Data were analyzed using t-test, propensity score matching, and analysis of covariance with the SPSS/WIN 18.0 program.ResultsTotal score for paternal infant attachment in the experimental group was significantly higher than the control group (p<.001. After matching, significant differences were found between the two groups through all subcategories. Adjusted mean score for paternal infant attachment verified experimental effects.ConclusionResults indicate that this paternal participation program during cesarean section is effective in improving paternal infant attachment.

A Decade of Exploring the Mammalian Sperm Epigenome: Paternal Epigenetic and Transgenerational Inheritance

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Alexandre Champroux

2018-05-01

Full Text Available The past decade has seen a tremendous increase in interest and progress in the field of sperm epigenetics. Studies have shown that chromatin regulation during male germline development is multiple and complex, and that the spermatozoon possesses a unique epigenome. Its DNA methylation profile, DNA-associated proteins, nucleo-protamine distribution pattern and non-coding RNA set up a unique epigenetic landscape which is delivered, along with its haploid genome, to the oocyte upon fertilization, and therefore can contribute to embryogenesis and to the offspring health. An emerging body of compelling data demonstrates that environmental exposures and paternal lifestyle can change the sperm epigenome and, consequently, may affect both the embryonic developmental program and the health of future generations. This short review will attempt to provide an overview of what is currently known about sperm epigenome and the existence of transgenerational epigenetic inheritance of paternally acquired traits that may contribute to the offspring phenotype.

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

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

2014-08-01

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

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

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Mathiesen, Jes Sloth; Habra, Mouhammed Amir; Bassett, John Howard Duncan; Choudhury, Sirazum Mubin; Balasubramanian, Sabapathy Prakash; Howlett, Trevor A; Robinson, Bruce G; Gimenez-Roqueplo, Anne-Paule; Castinetti, Frederic; Vestergaard, Peter; Frank-Raue, Karin

2017-06-01

The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists. To create a risk profile for the A883F mutation for appropriate classification among the ATA risk levels. Retrospective analysis. International collaboration. Included were 13 A883F carriers. The intervention was thyroidectomy. Earliest age of MTC, regional lymph node metastases, distant metastases, age-related penetrance of MTC and pheochromocytoma (PHEO), overall and disease-specific survival, and biochemical cure rate. One and three carriers were diagnosed at age 7 to 9 years (median, 7.5 years) with a normal thyroid and C-cell hyperplasia, respectively. Nine carriers were diagnosed with MTC at age 10 to 39 years (median, 19 years). The earliest age of MTC, regional lymph node metastasis, and distant metastasis was 10, 20, and 20 years, respectively. Fifty percent penetrance of MTC and PHEO was achieved by age 19 and 34 years, respectively. Five- and 10-year survival rates (both overall and disease specific) were 88% and 88%, respectively. Biochemical cure for MTC at latest follow-up was achieved in 63% (five of eight carriers) with pertinent data. MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers. Our results support the classification of the A883F mutation in the ATA high-risk level. Copyright © 2017 Endocrine Society

Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

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Kasper, Burkhard S; Kurzbuch, Katrin; Chang, Bernard S; Pauli, Elisabeth; Hamer, Hajo M; Winkler, Jürgen; Hehr, Ute

2013-06-01

Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X-linked dominant inherited, caused by mutations in the Filamin A gene (FLNA) and associated with a wide variety of other clinical findings including congenital heart disease. The typical patient with FLNA-associated PNH is female and presents with difficult to treat seizures. In contrast, hemizygous FLNA loss of function mutations in males are reported to be perinatally lethal. In X-linked dominant traits like FLNA-associated PNH the causal mutation is commonly inherited from the mother. Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. Our observations emphasize the importance to consider in genetic counseling and risk assessment the rare genetic constellation of paternal transmission for families with X-linked dominant inherited FLNA-associated PNH. Copyright © 2013 Wiley Periodicals, Inc.

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

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Kathryn M Fontaine

2007-09-01

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

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

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

2007-09-12

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

Multilocus DNA fingerprinting in paternity analysis: a Chilean experience

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Cifuentes O. Lucía

2000-01-01

Full Text Available DNA polymorphism is very useful in paternity analysis. The present paper describes paternity studies done using DNA profiles obtained with the (CAC5 probe. All of the subjects studied were involved in nonjudicial cases of paternity. Genomic DNA digested with HaeIII was run on agarose gels and hybridized in the gel with the (CAC5 probe labeled with 32P. The mean number of bands larger than the 4.3 kb per individual was 16.1. The mean proportion of bands shared among unrelated individuals was 0.08 and the mean number of test bands was 7.1. This corresponded to an exclusion probability greater than 0.999999. Paternity was excluded in 34.5% of the cases. The mutation frequency estimated from non-excluded cases was 0.01143 bands per child. In these cases, the paternity was confirmed by a locus-specific analysis of eight independent PCR-based loci. The paternity index was computed in all non-excluded cases. It can be concluded that this method is a powerful and inexpensive alternative to solve paternity doubts.

Advanced paternal age is a risk factor for schizophrenia in Iranians

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Mokri Bahareh

2011-04-01

Full Text Available Abstract Background Since 1958 many, but not all studies have demonstrated that paternal age is a risk factor for schizophrenia. There may be many different explanations for differences between studies, including study design, sample size, collection criteria, heterogeneity and the confounding effects of environmental factors that can for example perturb epigenetic programming and lead to an increase in disease risk. The small number of children in Western families makes risk comparisons between siblings born at different paternal ages difficult. In contrast, more Eastern families have children both at early and later periods of life. In the present study, a cross-sectional population study in an Iranian population was performed to compare frequency of schizophrenia in younger offspring (that is, older paternal age versus older offspring. Methods A total of 220 patients with the diagnosis of schizophrenia (cases from both psychiatric hospitals and private clinics and 220 individuals from other hospital wards (controls, matched for sex and age were recruited for this study. Patients with neurological problem, substance abuse, mental retardation and mood disorder were excluded from both groups. Results Birth rank comparisons revealed that 35% vs 24% of the cases vs the controls were in the third or upper birth rank (P = 0.01. Also, the mean age of fathers at birth in case group (30 ± 6.26 years was significantly more than the control group (26.45 ± 5.64 years; P = 0.0001. The age of 76 fathers at birth in case group was over 32 versus 33 fathers in control group. Individuals whose fathers' age was more than 32 (at birth were at higher risk (2.77 times for schizophrenia versus others (P P = 0.02. Logistic regression analysis suggests that maternal age is less likely to be involved in the higher risk of schizophrenia than advanced parental age. Discussion This study demonstrates a relationship between paternal age and schizophrenia in large

Who wants paternalism?

DEFF Research Database (Denmark)

Pedersen, Sofie K.; Koch, Alexander Karl; Nafziger, Julia

2014-01-01

Little is known about the demand side of paternalism. We investigate attitudes towards paternalism among Danish students. The main question is whether demand for paternalism is related to self-control, either because people with self-control problems seek commitment devices to overcome these prob...

A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents.

OpenAIRE

Wilkes, David C; Sailer, Verena; Xue, Hui; Cheng, Hongwei; Collins, Colin C; Gleave, Martin; Wang, Yuzhuo; Demichelis, Francesca; Beltran, Himisha; Rubin, Mark Andrew; Rickman, David S

2017-01-01

Defects in genes involved in DNA damage repair (DDR) pathway are emerging as novel biomarkers and targets for new prostate cancer drug therapies. A previous report revealed an association between an exceptional response to cisplatin treatment and a somatic loss of heterozygosity (LOH) of FANCA in a patient with metastatic prostate cancer who also harbored a germline FANCA variant (S1088F). Although germline FANCA mutations are the most frequent alterations in patients with Fanconi anemia, ger...

Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism.

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Tan, A Y; Blumenfeld, J; Michaeel, A; Donahue, S; Bobb, W; Parker, T; Levine, D; Rennert, H

2015-04-01

Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysis of ADPKD in a 19-year-old female proband and her father. The proband had a PKD1 truncation mutation c.10745dupC (p.Val3584ArgfsX43), which was absent in paternal peripheral blood lymphocytes (PBL). However, very low quantities of this mutation were detected in the father's sperm DNA, but not in DNA from his buccal cells or urine sediment. Next generation sequencing (NGS) analysis determined the level of this mutation in the father's PBL, buccal cells and sperm to be ∼3%, 4.5% and 10%, respectively, consistent with somatic and germline mosaicism. The PKD1 mutation in ∼10% of her father's sperm indicates that it probably occurred early in embryogenesis. In ADPKD cases where a de novo mutation is suspected because of negative PKD gene testing of PBL, additional evaluation with more sensitive methods (e.g. NGS) of the proband PBL and paternal sperm can enhance detection of mosaicism and facilitate genetic counseling. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Paternity tests in Mexico: Results obtained in 3005 cases.

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

2018-04-01

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

Konference Fathers and Paternity Leave: Men Do It

Czech Academy of Sciences Publication Activity Database

Maříková, Hana

2006-01-01

Roč. 42, č. 14 (2006), s. 833-835 ISSN 0038-0288. [Fathers and Paternity Leave: Men Do It] R&D Projects: GA AV ČR IAA700280504 Institutional research plan: CEZ:AV0Z70280505 Keywords : parental leave * paternity leave * fathering Subject RIV: AO - Sociology, Demography Impact factor: 0.128, year: 2006

Germline Variants of Prostate Cancer in Japanese Families.

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Takahide Hayano

Full Text Available Prostate cancer (PC is the second most common cancer in men. Family history is the major risk factor for PC. Only two susceptibility genes were identified in PC, BRCA2 and HOXB13. A comprehensive search of germline variants for patients with PC has not been reported in Japanese families. In this study, we conducted exome sequencing followed by Sanger sequencing to explore responsible germline variants in 140 Japanese patients with PC from 66 families. In addition to known susceptibility genes, BRCA2 and HOXB13, we identified TRRAP variants in a mutually exclusive manner in seven large PC families (three or four patients per family. We also found shared variants of BRCA2, HOXB13, and TRRAP from 59 additional small PC families (two patients per family. We identified two deleterious HOXB13 variants (F127C and G132E. Further exploration of the shared variants in rest of the families revealed deleterious variants of the so-called cancer genes (ATP1A1, BRIP1, FANCA, FGFR3, FLT3, HOXD11, MUTYH, PDGFRA, SMARCA4, and TCF3. The germline variant profile provides a new insight to clarify the genetic etiology and heterogeneity of PC among Japanese men.

Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

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Schrader, Kasmintan A; Cheng, Donavan T; Joseph, Vijai; Prasad, Meera; Walsh, Michael; Zehir, Ahmet; Ni, Ai; Thomas, Tinu; Benayed, Ryma; Ashraf, Asad; Lincoln, Annie; Arcila, Maria; Stadler, Zsofia; Solit, David; Hyman, David M; Hyman, David; Zhang, Liying; Klimstra, David; Ladanyi, Marc; Offit, Kenneth; Berger, Michael; Robson, Mark

2016-01-01

Tumor genetic sequencing identifies potentially targetable genetic alterations with therapeutic implications. Analysis has concentrated on detecting tumor-specific variants, but recognition of germline variants may prove valuable as well. To estimate the burden of germline variants identified through routine clinical tumor sequencing. Patients with advanced cancer diagnoses eligible for studies of targeted agents at Memorial Sloan Kettering Cancer Center are offered tumor-normal sequencing with MSK-IMPACT, a 341-gene panel. We surveyed the germline variants seen in 187 overlapping genes with Mendelian disease associations in 1566 patients who had undergone tumor profiling between March and October 2014. The number of presumed pathogenic germline variants (PPGVs) and variants of uncertain significance per person in 187 genes associated with single-gene disorders and the proportions of individuals with PPGVs in clinically relevant gene subsets, in genes consistent with known tumor phenotypes, and in genes with evidence of second somatic hits in their tumors. The mean age of the 1566 patients was 58 years, and 54% were women. Presumed pathogenic germline variants in known Mendelian disease-associated genes were identified in 246 of 1566 patients (15.7%; 95% CI, 14.0%-17.6%), including 198 individuals with mutations in genes associated with cancer susceptibility. Germline findings in cancer susceptibility genes were concordant with the individual's cancer type in only 81 of 198 cases (40.9%; 95% CI, 34.3%-47.9%). In individuals with PPGVs retained in the tumor, somatic alteration of the other allele was seen in 39 of 182 cases (21.4%; 95% CI, 16.1%-28.0%), of which 13 cases did not show a known correlation of the germline mutation and a known syndrome. Mutations in non-cancer-related Mendelian disease genes were seen in 55 of 1566 cases (3.5%; 95% CI, 27.1%-45.4%). Almost every individual had more than 1 variant of uncertain significance (1565 of 1566 patients; 99

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

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Shinde, Deepali N.; Elmer, Dominik P.; Calabrese, Peter; Boulanger, Jérôme; Arnheim, Norman; Tiemann-Boege, Irene

2013-01-01

There are certain de novo germline mutations associated with genetic disorders whose mutation rates per generation are orders of magnitude higher than the genome average. Moreover, these mutations occur exclusively in the male germ line and older men have a higher probability of having an affected child than younger ones, known as the paternal age effect (PAE). The classic example of a genetic disorder exhibiting a PAE is achondroplasia, caused predominantly by a single-nucleotide substitution (c.1138G>A) in FGFR3. To elucidate what mechanisms might be driving the high frequency of this mutation in the male germline, we examined the spatial distribution of the c.1138G>A substitution in a testis from an 80-year-old unaffected man. Using a technology based on bead-emulsion amplification, we were able to measure mutation frequencies in 192 individual pieces of the dissected testis with a false-positive rate lower than 2.7 × 10−6. We observed that most mutations are clustered in a few pieces with 95% of all mutations occurring in 27% of the total testis. Using computational simulations, we rejected the model proposing an elevated mutation rate per cell division at this nucleotide site. Instead, we determined that the observed mutation distribution fits a germline selection model, where mutant spermatogonial stem cells have a proliferative advantage over unmutated cells. Combined with data on several other PAE mutations, our results support the idea that the PAE, associated with a number of Mendelian disorders, may be explained primarily by a selective mechanism. PMID:23740942

Germline V repertoires: Origin, maintenance, diversification.

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Steele, E J; Lindley, R A

2018-06-01

In our view, Melvin Cohn (Scand J Immunol. 2018;87:e12640) has set out the logical guidelines towards a resolution of the very real enigma of the selectability of vertebrate germline Ig V repertoires under the current evolutionary paradigm…" A somatically derived repertoire scrambles this (germline VL + VH) substrate so that its specificities are lost, making it un-selectable in the germline. Consequently, evolution faced an incompatibility." It is argued here in Reply that a reverse transcriptase-based soma-to-germline process (S->G) targeting germline V segment arrays goes some considerable way to resolving fundamental contradictions on the origin, maintenance and then real-time adaptive diversification of these limited sets of V segments encoded within various V repertoire arrays. © 2018 The Foundation for the Scandinavian Journal of Immunology.

Immunoregulatory effect of evodiamine in mice of various germlines.

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Hu, Hai-Yan; Song, Zhao-Yang; Deng, Lan; Zhang, Mei-Xia

2008-08-01

The aim of this study was to investigate the effect of evodiamine on the proliferation and the immune function of thymocytes and splenocyte of mice from three germlines, which were 8 weeks old masculinity BALB/c, C57BL/6 and F1 hybridization mice. Cells of thymus and spleen were harvested and prepared as unicellular suspension. Cell proliferation was detected by MTT method, while the concentration of IL-2 was detected by ELISA, mRNA levels of bcl-2 and cdk2 in cells treated with evodiamine were detected by RT-PCR, the apoptosis rate and intracellular reactive oxygen species (ROS) concentration were analyzed by FCM, and the protein levels of BCL-2, CDK2 and BAX were determined by fluorescence microscope. The results indicated that at 0.5, 0.75 and 1 micromol/L, evodiamine inhibited the proliferation and externalization of thymocytes and splenocytes stimulated with ConA (p rate increased at a prolong period of time. After treatment with evodiamine for 24 and 48 hours, the cells were divided into two groups, one of which was negatively stained by 2 7-dichlorofluorescein (DCF), which indicated that ROS level decreased significantly in the dying cells. It is concluded that evodiamine inhibits proliferation and induces apoptosis of thymocytes and splenocytes from different germline mice, and at the same time decreases secretion of IL-2 through down-regulating bcl-2 and cdk2 levels.

Paternalism and Antipaternalism

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Mauro Cardoso Simões

2011-12-01

Full Text Available http://dx.doi.org/10.5007/1677-2954.2011v10n1p165 This paper aims to examine the relation between paternalism and antipaternalism. The original intention is disable the arguments seeking to justify acceptance on the part of Mill of moral and legal paternalism. The work will also investigate the concern milleans with the concepts of autonomy and self-development, positioning itself for a reading of Mill as a thinker who advocates a weak version of paternalism. This research suggests, moreover, the communication with the interpreters of contemporary Mill, which will assess the impact of their ideas on the current dialogue on the liberty and paternalism.

The oogenic germline starvation response in C. elegans.

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Hannah S Seidel

Full Text Available Many animals alter their reproductive strategies in response to environmental stress. Here we have investigated how L4 hermaphrodites of Caenorhabditis elegans respond to starvation. To induce starvation, we removed food at 2 h intervals from very early- to very late-stage L4 animals. The starved L4s molted into adulthood, initiated oogenesis, and began producing embryos; however, all three processes were severely delayed, and embryo viability was reduced. Most animals died via 'bagging,' because egg-laying was inhibited, and embryos hatched in utero, consuming their parent hermaphrodites from within. Some animals, however, avoided bagging and survived long term. Long-term survival did not rely on embryonic arrest but instead upon the failure of some animals to produce viable progeny during starvation. Regardless of the bagging fate, starved animals showed two major changes in germline morphology: All oogenic germlines were dramatically reduced in size, and these germlines formed only a single oocyte at a time, separated from the remainder of the germline by a tight constriction. Both changes in germline morphology were reversible: Upon re-feeding, the shrunken germlines regenerated, and multiple oocytes formed concurrently. The capacity for germline regeneration upon re-feeding was not limited to the small subset of animals that normally survive starvation: When bagging was prevented ectopically by par-2 RNAi, virtually all germlines still regenerated. In addition, germline shrinkage strongly correlated with oogenesis, suggesting that during starvation, germline shrinkage may provide material for oocyte production. Finally, germline shrinkage and regeneration did not depend upon crowding. Our study confirms previous findings that starvation uncouples germ cell proliferation from germline stem cell maintenance. Our study also suggests that when nutrients are limited, hermaphrodites scavenge material from their germlines to reproduce. We discuss

Pediatric MDS: GATA screen the germline.

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Stieglitz, Elliot; Loh, Mignon L

2016-03-17

In this issue of Blood, Wlodarski and colleagues demonstrate that as many as 72% of adolescents diagnosed with myelodysplastic syndrome (MDS) and monosomy 7 harbor germline mutations in GATA2. Although pediatric MDS is a very rare diagnosis, occurring in 0.8 to 4 cases per million, Wlodarski et al screened >600 cases of primary or secondary MDS in children and adolescents who were enrolled in the European Working Group on MDS consortium over a period of 15 years. The overall frequency of germline GATA2 mutations in children with primary MDS was 7%, and 15% in those presenting with advanced disease. Notably, mutations in GATA2 were absent in patients with therapy-related MDS or acquired aplastic anemia.

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

Science.gov (United States)

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

2016-10-01

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

Production of $f_{0}(980), f_{2}(1270)$ and $\\phi(1020)$ in hadronic $Z^{0}$ decay

CERN Document Server

Ackerstaff, K.; Allison, John; Altekamp, N.; Anderson, K.J.; Anderson, S.; Arcelli, S.; Asai, S.; Ashby, S.F.; Axen, D.; Azuelos, G.; Ball, A.H.; Barberio, E.; Barlow, Roger J.; Bartoldus, R.; Batley, J.R.; Baumann, S.; Bechtluft, J.; Behnke, T.; Bell, Kenneth Watson; Bella, G.; Bentvelsen, S.; Bethke, S.; Betts, S.; Biebel, O.; Biguzzi, A.; Bird, S.D.; Blobel, V.; Bloodworth, I.J.; Bobinski, M.; Bock, P.; Bonacorsi, D.; Boutemeur, M.; Braibant, S.; Brigliadori, L.; Brown, Robert M.; Burckhart, H.J.; Burgard, C.; Burgin, R.; Capiluppi, P.; Carnegie, R.K.; Carter, A.A.; Carter, J.R.; Chang, C.Y.; Charlton, David G.; Chrisman, D.; Clarke, P.E.L.; Cohen, I.; Conboy, J.E.; Cooke, O.C.; Couyoumtzelis, C.; Coxe, R.L.; Cuffiani, M.; Dado, S.; Dallapiccola, C.; Dallavalle, G.Marco; Davis, R.; De Jong, S.; del Pozo, L.A.; de Roeck, A.; Desch, K.; Dienes, B.; Dixit, M.S.; Doucet, M.; Duchovni, E.; Duckeck, G.; Duerdoth, I.P.; Eatough, D.; Estabrooks, P.G.; Etzion, E.; Evans, H.G.; Evans, M.; Fabbri, F.; Fanfani, A.; Fanti, M.; Faust, A.A.; Feld, L.; Fiedler, F.; Fierro, M.; Fischer, H.M.; Fleck, I.; Folman, R.; Fong, D.G.; Foucher, M.; Furtjes, A.; Futyan, D.I.; Gagnon, P.; Gary, J.W.; Gascon, J.; Gascon-Shotkin, S.M.; Geddes, N.I.; Geich-Gimbel, C.; Geralis, T.; Giacomelli, G.; Giacomelli, P.; Giacomelli, R.; Gibson, V.; Gibson, W.R.; Gingrich, D.M.; Glenzinski, D.; Goldberg, J.; Goodrick, M.J.; Gorn, W.; Grandi, C.; Gross, E.; Grunhaus, J.; Gruwe, M.; Hajdu, C.; Hanson, G.G.; Hansroul, M.; Hapke, M.; Hargrove, C.K.; Hart, P.A.; Hartmann, C.; Hauschild, M.; Hawkes, C.M.; Hawkings, R.; Hemingway, R.J.; Herndon, M.; Herten, G.; Heuer, R.D.; Hildreth, M.D.; Hill, J.C.; Hillier, S.J.; Hobson, P.R.; Hocker, James Andrew; Homer, R.J.; Honma, A.K.; Horvath, D.; Hossain, K.R.; Howard, R.; Huntemeyer, P.; Hutchcroft, D.E.; Igo-Kemenes, P.; Imrie, D.C.; Ishii, K.; Jawahery, A.; Jeffreys, P.W.; Jeremie, H.; Jimack, M.; Joly, A.; Jones, C.R.; Jones, M.; Jost, U.; Jovanovic, P.; Junk, T.R.; Kanzaki, J.; Karlen, D.; Kartvelishvili, V.; Kawagoe, K.; Kawamoto, T.; Kayal, P.I.; Keeler, R.K.; Kellogg, R.G.; Kennedy, B.W.; Kirk, J.; Klier, A.; Kluth, S.; Kobayashi, T.; Kobel, M.; Koetke, D.S.; Kokott, T.P.; Kolrep, M.; Komamiya, S.; Kowalewski, Robert V.; Kress, T.; Krieger, P.; von Krogh, J.; Kyberd, P.; Lafferty, G.D.; Lahmann, R.; Lai, W.P.; Lanske, D.; Lauber, J.; Lautenschlager, S.R.; Lawson, I.; Layter, J.G.; Lazic, D.; Lee, A.M.; Lefebvre, E.; Lellouch, D.; Letts, J.; Levinson, L.; List, B.; Lloyd, S.L.; Loebinger, F.K.; Long, G.D.; Losty, M.J.; Ludwig, J.; Lui, D.; Macchiolo, A.; Macpherson, A.; Mannelli, M.; Marcellini, S.; Markopoulos, C.; Markus, C.; Martin, A.J.; Martin, J.P.; Martinez, G.; Mashimo, T.; Mattig, Peter; McDonald, W.John; McKenna, J.; Mckigney, E.A.; McMahon, T.J.; McPherson, R.A.; Meijers, F.; Menke, S.; Merritt, F.S.; Mes, H.; Meyer, J.; Michelini, A.; Mihara, S.; Mikenberg, G.; Miller, D.J.; Mincer, A.; Mir, R.; Mohr, W.; Montanari, A.; Mori, T.; Nagai, K.; Nakamura, I.; Neal, H.A.; Nellen, B.; Nisius, R.; O'Neale, S.W.; Oakham, F.G.; Odorici, F.; Ogren, H.O.; Oh, A.; Oldershaw, N.J.; Oreglia, M.J.; Orito, S.; Palinkas, J.; Pasztor, G.; Pater, J.R.; Patrick, G.N.; Patt, J.; Perez-Ochoa, R.; Petzold, S.; Pfeifenschneider, P.; Pilcher, J.E.; Pinfold, J.; Plane, David E.; Poffenberger, P.; Poli, B.; Posthaus, A.; Rembser, C.; Robertson, S.; Robins, S.A.; Rodning, N.; Roney, J.M.; Rooke, A.; Rossi, A.M.; Routenburg, P.; Rozen, Y.; Runge, K.; Runolfsson, O.; Ruppel, U.; Rust, D.R.; Sachs, K.; Saeki, T.; Sahr, O.; Sang, W.M.; Sarkisian, E.K.G.; Sbarra, C.; Schaile, A.D.; Schaile, O.; Scharf, F.; Scharff-Hansen, P.; Schieck, J.; Schleper, P.; Schmitt, B.; Schmitt, S.; Schoning, A.; Schroder, Matthias; Schumacher, M.; Schwick, C.; Scott, W.G.; Shears, T.G.; Shen, B.C.; Shepherd-Themistocleous, C.H.; Sherwood, P.; Siroli, G.P.; Sittler, A.; Skillman, A.; Skuja, A.; Smith, A.M.; Snow, G.A.; Sobie, R.; Soldner-Rembold, S.; Springer, Robert Wayne; Sproston, M.; Stephens, K.; Steuerer, J.; Stockhausen, B.; Stoll, K.; Strom, David M.; Strohmer, R.; Szymanski, P.; Tafirout, R.; Talbot, S.D.; Taras, P.; Tarem, S.; Teuscher, R.; Thiergen, M.; Thomson, M.A.; von Torne, E.; Torrence, E.; Towers, S.; Trigger, I.; Trocsanyi, Z.; Tsur, E.; Turcot, A.S.; Turner-Watson, M.F.; Ueda, I.; Utzat, P.; Van Kooten, Rick J.; Vannerem, P.; Verzocchi, M.; Vikas, P.; Vokurka, E.H.; Voss, H.; Wackerle, F.; Wagner, A.; Ward, C.P.; Ward, D.R.; Watkins, P.M.; Watson, A.T.; Watson, N.K.; Wells, P.S.; Wermes, N.; White, J.S.; Wilson, G.W.; Wilson, J.A.; Wyatt, T.R.; Yamashita, S.; Yekutieli, G.; Zacek, V.; Zer-Zion, D.

1998-01-01

Inclusive production of the f_0(980), f_2(1270) and \\phi(1020) resonances has been studied in a sample of 4.3 million hadronic Z^0 decays from the OPAL experiment at LEP. A coupled channel analysis has been used for the f_0 in simultaneous fits to the resonances in inclusive \\pi+\\pi- and K+K- mass spectra. Fragmentation functions are reported for the three states. Total inclusive rates are measured to be 0.141 +/- 0.007 +/- 0.011 f_0, 0.155 +/- 0.011 +/- 0.018 f_2, and 0.091 +/- 0.002 +/- 0.003 \\phi mesons per hadronic Z^0 decay. The production properties of the f_0, including those in three-jet events, are compared with those of the f_2 and \\phi, and with the Lund string model of hadron production. All measurements are consistent with the hypothesis that the f_0 is a conventional qq(bar) scalar meson.

Influence of paternal age on perinatal outcomes.

Science.gov (United States)

Hurley, Emily G; DeFranco, Emily A

2017-11-01

There is an increasing trend to delay childbearing to advanced parental age. Increased risks of advanced maternal age and assisted reproductive technologies are widely accepted. There are limited data regarding advanced paternal age. To adequately counsel patients on risk, more research regarding advanced paternal age is necessary. We sought to determine the influence of paternal age on perinatal outcomes, and to assess whether this influence differs between pregnancies achieved spontaneously and those achieved with assisted reproductive technology. A population-based retrospective cohort study of all live births in Ohio from 2006 through 2012 was completed. Data were evaluated to determine if advanced paternal age is associated with an increased risk of adverse outcomes in pregnancies. The analysis was stratified by status of utilization of assisted reproductive technology. Generalized linear regression models assessed the association of paternal age on pregnancy complications in assisted reproductive technology and spontaneously conceived pregnancies, after adjusting for maternal age, race, multifetal gestation, and Medicaid status, using Stata software (Stata, Release 12; StataCorp, College Station, TX). Paternal age was documented in 82.2% of 1,034,552 live births in Ohio during the 7-year study period. Paternal age ranged from 12-87 years, with a median of 30 (interquartile range, 26-35) years. Maternal age ranged from 11-62 years, with a median of 27 (interquartile range, 22-31) years. The use of assisted reproductive technology in live births increased as paternal age increased: 0.1% 60 years, P risk factors, increased paternal age was not associated with a significant increase in the rate of preeclampsia, preterm birth, fetal growth restriction, congenital anomaly, genetic disorder, or neonatal intensive care unit admission. The influence of paternal age on pregnancy outcomes was similar in pregnancies achieved with and without assisted reproductive

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.

Science.gov (United States)

Holsten, Till; Tsiakas, Konstantinos; Kordes, Uwe; Bison, Brigitte; Pietsch, Torsten; Rutkowski, Stefan; Santer, René; Schüller, Ulrich

2018-03-01

Glycogen storage disease (GSD) 0a is a rare congenital metabolic disease with symptoms in infancy and childhood caused by biallelic GYS2 germline variants. A predisposition to cancer has not been described yet. We report here a boy with GSD 0a, who developed a malignant brain tumor at the age of 4.5 years. The tumor was classified as a group 3 medulloblastoma, and the patient died from cancer 27 months after initial tumor diagnosis. This case appears interesting as group 3 medulloblastoma is so far not known to arise in hereditary syndromes and the biology of sporadic group 3 medulloblastoma is largely unknown.

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

Science.gov (United States)

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

1998-08-01

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

Temporal remodeling of the cell cycle accompanies differentiation in the Drosophila germline.

Science.gov (United States)

Hinnant, Taylor D; Alvarez, Arturo A; Ables, Elizabeth T

2017-09-01

Development of multicellular organisms relies upon the coordinated regulation of cellular differentiation and proliferation. Growing evidence suggests that some molecular regulatory pathways associated with the cell cycle machinery also dictate cell fate; however, it remains largely unclear how the cell cycle is remodeled in concert with cell differentiation. During Drosophila oogenesis, mature oocytes are created through a series of precisely controlled division and differentiation steps, originating from a single tissue-specific stem cell. Further, germline stem cells (GSCs) and their differentiating progeny remain in a predominantly linear arrangement as oogenesis proceeds. The ability to visualize the stepwise events of differentiation within the context of a single tissue make the Drosophila ovary an exceptional model for study of cell cycle remodeling. To describe how the cell cycle is remodeled in germ cells as they differentiate in situ, we used the Drosophila Fluorescence Ubiquitin-based Cell Cycle Indicator (Fly-FUCCI) system, in which degradable versions of GFP::E2f1 and RFP::CycB fluorescently label cells in each phase of the cell cycle. We found that the lengths of the G1, S, and G2 phases of the cell cycle change dramatically over the course of differentiation, and identified the 4/8-cell cyst as a key developmental transition state in which cells prepare for specialized cell cycles. Our data suggest that the transcriptional activator E2f1, which controls the transition from G1 to S phase, is a key regulator of mitotic divisions in the early germline. Our data support the model that E2f1 is necessary for proper GSC proliferation, self-renewal, and daughter cell development. In contrast, while E2f1 degradation by the Cullin 4 (Cul4)-containing ubiquitin E3 ligase (CRL4) is essential for developmental transitions in the early germline, our data do not support a role for E2f1 degradation as a mechanism to limit GSC proliferation or self-renewal. Taken

Association of missing paternal demographics on infant birth certificates with perinatal risk factors for childhood obesity

Directory of Open Access Journals (Sweden)

Erika R. Cheng

2016-07-01

Full Text Available Abstract Background The role of fathers in the development of obesity in their offspring remains poorly understood. We evaluated associations of missing paternal demographic information on birth certificates with perinatal risk factors for childhood obesity. Methods Data were from the Linked CENTURY Study, a database linking birth certificate and well-child visit data for 200,258 Massachusetts children from 1980–2008. We categorized participants based on the availability of paternal age, education, or race/ethnicity and maternal marital status on the birth certificate: (1 pregnancies missing paternal data; (2 pregnancies involving unmarried women with paternal data; and (3 pregnancies involving married women with paternal data. Using linear and logistic regression, we compared differences in smoking during pregnancy, gestational diabetes, birthweight, breastfeeding initiation, and ever recording a weight for length (WFL ≥ the 95th percentile or crossing upwards ≥2 WFL percentiles between 0–24 months among the study groups. Results 11,989 (6.0 % birth certificates were missing paternal data; 31,323 (15.6 % mothers were unmarried. In adjusted analyses, missing paternal data was associated with lower birthweight (β -0.07 kg; 95 % CI: −0.08, −0.05, smoking during pregnancy (AOR 4.40; 95 % CI: 3.97, 4.87, non-initiation of breastfeeding (AOR 0.39; 95 % CI: 0.36, 0.42, and with ever having a WFL ≥ 95th percentile (AOR 1.10; 95 % CI: 1.01, 1.20. Similar associations were noted for pregnancies involving unmarried women with paternal data, but differences were less pronounced. Conclusions Missing paternal data on the birth certificate is associated with perinatal risk factors for childhood obesity. Efforts to understand and reduce obesity risk factors in early life may need to consider paternal factors.

[Forensic hematology genetics--paternity testing].

Science.gov (United States)

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.

Global transcriptional repression in C. elegans germline precursors by regulated sequestration of TAF-4.

Science.gov (United States)

Guven-Ozkan, Tugba; Nishi, Yuichi; Robertson, Scott M; Lin, Rueyling

2008-10-03

In C. elegans, four asymmetric divisions, beginning with the zygote (P0), generate transcriptionally repressed germline blastomeres (P1-P4) and somatic sisters that become transcriptionally active. The protein PIE-1 represses transcription in the later germline blastomeres but not in the earlier germline blastomeres P0 and P1. We show here that OMA-1 and OMA-2, previously shown to regulate oocyte maturation, repress transcription in P0 and P1 by binding to and sequestering in the cytoplasm TAF-4, a component critical for assembly of TFIID and the pol II preinitiation complex. OMA-1/2 binding to TAF-4 is developmentally regulated, requiring phosphorylation by the DYRK kinase MBK-2, which is activated at meiosis II after fertilization. OMA-1/2 are normally degraded after the first mitosis, but ectopic expression of wild-type OMA-1 is sufficient to repress transcription in both somatic and later germline blastomeres. We propose that phosphorylation by MBK-2 serves as a developmental switch, converting OMA-1/2 from oocyte to embryo regulators.

Advancing paternal age and schizophrenia: the impact of delayed fatherhood.

Science.gov (United States)

Ek, Mats; Wicks, Susanne; Svensson, Anna C; Idring, Selma; Dalman, Christina

2015-05-01

It is well known that advancing paternal age is associated with an increased risk of schizophrenia in offspring, but the mechanism behind this association remains unknown. This study investigates if delayed fatherhood rather than advancing paternal age per se might explain the increased risk of schizophrenia in offspring associated with advancing paternal age. This is a register-based study of the Swedish population looking at people born 1955-1985 who have 1 or 2 siblings (n = 2 589 502). The main analysis investigated whether the association between advancing paternal age and schizophrenia was explained by delayed fatherhood. Possible confounding factors were taken into account. Cox regression was used throughout. In the main analysis the association between advancing paternal age and increased risk of schizophrenia in offspring disappeared after controlling for delayed fatherhood (hazard ratio [HR] = 0.93, 95% CI = 0.72-1.21 comparing 45+ years old fathers to those 25-29), whereas delayed fatherhood showed an association with increased risk of schizophrenia in offspring comparing 35-39 and 40-44 years old fathers to 25-29 year olds (HR = 1.37, 95% CI = 1.18-1.58; HR = 1.81, 95% CI = 1.44-2.28, respectively). The results remained when controlling for possible confounders. This study suggests that the association between paternal age and schizophrenia is not due to paternal age per se, but rather to an unknown factor associated with both delayed fatherhood and schizophrenia. © The Author 2014. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Paternal and maternal age at pregnancy and autism spectrum disorders in offspring

Directory of Open Access Journals (Sweden)

Luh Putu Rihayani Budi

2016-11-01

Full Text Available Background The prevalence of autism spectrum disorders (ASDs has increased 10 times over the past half century, while paternal and maternal age at pregnancy has also increased. Studies looking for an association between paternal or maternal age at pregnancy and ASDs in offspring have not been conclusive. Objective To assess for possible associations between paternal and maternal age at pregnancy and ASDs in offspring. Methods This case-control study had 50 case and 100 control subjects, each case was matched for age and gender to two controls. Case subjects were obtained by consecutive sampling of patients aged 18 months to 7 years who visited the Developmental Behavioral & Community Pediatrics Outpatient Clinic and private growth and development centers from January to April 2013, while control group were children of the same age range and same gender who visited pediatric outpatient clinic at Sanglah Hospital mostly due to acute respiratory tract infection, without ASDs as assessed by the DSM-IV-TR criteria. We interviewed parents to collect the following data: maternal and paternal age at pregnancy, child’s birth weight, history of asphyxia, hospital admission during the neonatal period, pathological labor, maternal smoking during pregnancy, paternal smoking, and gestational age. Data analysis was performed with Chi-square and Fisher’s exact tests. Results Multivariable analysis showed that higher paternal age at pregnancy was associated with ASDs in offspring (OR 6.3; 95%CI 2.0 to 19.3; P 0.001. However, there was no significant association between maternal age during pregnancy and the incidence of ASDs. Asphyxia and paternal smoking were also associated with higher incidence of ASDs in the offspring (OR 10.3; 95%CI 1.9 to 56.5; P 0.007 and OR 3.2; 95%CI 1.5 to 6.9; P 0.003, respectively. Conclusion Paternal age >=40 years increased the risk of ASDs in offspring by 6.3 times. In addition, paternal smoking increased the risk of ASDs in

Lessons for Inductive Germline Determination

Science.gov (United States)

Seervai, Riyad N.H.; Wessel, Gary M.

2015-01-01

SUMMARY Formation of the germline in an embryo marks a fresh round of reproductive potential, yet the developmental stage and location within the embryo where the primordial germ cells (PGCs) form differs wildly among species. In most animals, the germline is formed either by an inherited mechanism, in which maternal provisions within the oocyte drive localized germ-cell fate once acquired in the embryo, or an inductive mechanism that involves signaling between cells that directs germ-cell fate. The inherited mechanism has been widely studied in model organisms such as Drosophila melanogaster, Caenorhabditis elegans, Xenopus laevis, and Danio rerio. Given the rapid generation time and the effective adaptation for laboratory research of these organisms, it is not coincidental that research on these organisms has led the field in elucidating mechanisms for germline specification. The inductive mechanism, however, is less well understood and is studied primarily in the mouse (Mus musculus). In this review, we compare and contrast these two fundamental mechanisms for germline determination, beginning with the key molecular determinants that play a role in the formation of germ cells across all animal taxa. We next explore the current understanding of the inductive mechanism of germ-cell determination in mice, and evaluate the hypotheses for selective pressures on these contrasting mechanisms. We then discuss the hypothesis that the transition between these determination mechanisms, which has happened many times in phylogeny, is more of a continuum than a binary change. Finally, we propose an analogy between germline determination and sex determination in vertebrates—two of the milestones of reproduction and development—in which animals use contrasting strategies to activate similar pathways. PMID:23450642

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

Science.gov (United States)

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

1998-01-01

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

Human Germline Genome Editing.

Science.gov (United States)

Ormond, Kelly E; Mortlock, Douglas P; Scholes, Derek T; Bombard, Yvonne; Brody, Lawrence C; Faucett, W Andrew; Garrison, Nanibaa' A; Hercher, Laura; Isasi, Rosario; Middleton, Anna; Musunuru, Kiran; Shriner, Daniel; Virani, Alice; Young, Caroline E

2017-08-03

With CRISPR/Cas9 and other genome-editing technologies, successful somatic and germline genome editing are becoming feasible. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in March 2017. The workgroup included representatives from the UK Association of Genetic Nurses and Counsellors, Canadian Association of Genetic Counsellors, International Genetic Epidemiology Society, and US National Society of Genetic Counselors. These groups, as well as the American Society for Reproductive Medicine, Asia Pacific Society of Human Genetics, British Society for Genetic Medicine, Human Genetics Society of Australasia, Professional Society of Genetic Counselors in Asia, and Southern African Society for Human Genetics, endorsed the final statement. The statement includes the following positions. (1) At this time, given the nature and number of unanswered scientific, ethical, and policy questions, it is inappropriate to perform germline gene editing that culminates in human pregnancy. (2) Currently, there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, with appropriate oversight and consent from donors, to facilitate research on the possible future clinical applications of gene editing. There should be no prohibition on making public funds available to support this research. (3) Future clinical application of human germline genome editing should not proceed unless, at a minimum, there is (a) a compelling medical rationale, (b) an evidence base that supports its clinical use, (c) an ethical justification, and (d) a transparent public process to solicit and incorporate stakeholder input. Copyright © 2017 American Society of Human Genetics. All rights reserved.

Inclusive production of $\\rho^{0}(770), f_0(980)$ and $f_2(1270)$ mesons in $\

CERN Document Server

Astier, P.; Baldisseri, A.; Baldo-Ceolin, M.; Banner, M.; Bassompierre, G.; Benslama, K.; Besson, N.; Bird, I.; Blumenfeld, Barry J.; Bobisut, F.; Bouchez, J.; Boyd, S.; Bueno, A.; Bunyatov, S.; Camilleri, L.; Cardini, A.; Cattaneo, P.W.; Cavasinni, V.; Cervera-Villanueva, A.; Collazuol, G.; Conforto, G.; Conta, C.; Contalbrigo, M.; Cousins, R.; Daniels, D.; Degaudenzi, H.; Del Prete, T.; De Santo, Antonella; Dignan, T.; Di Lella, L.; do Couto e Silva, E.; Dumarchez, J.; Ellis, Malcolm; Fazio, T.; Feldman, G.J.; Ferrari, R.; Ferrere, D.; Flaminio, V.; Fraternali, M.; Gaillard, J.M.; Gangler, E.; Geppert, D.; Gibin, D.; Gninenko, S.; Godley, A.; Gomez-Cadenas, J.J.; Gosset, J.; Gossling, C.; Gouanere, M.; Grant, A.; Graziani, G.; Guglielmi, A.; Hagner, C.; Hernando, J.; Hubbard, D.; Hurst, P.; Hyett, N.; Iacopini, E.; Joseph, C.; Juget, F.; Kirsanov, M.; Klimov, O.; Kokkonen, J.; Kovzelev, A.; Krasnoperov, A.; Kuznetsov, V.; Lacaprara, S.; Lachaud, C.; Lakic, B.; Lanza, A.; La Rotonda, L.; Laveder, M.; Letessier-Selvon, A.; Levy, J.M.; Linssen, L.; Ljubicic, A.; Long, J.; Lupi, A.; Marchionni, A.; Martelli, F.; Mechain, X.; Mendiburu, J.P.; Meyer, J.P.; Mezzetto, M.; Mishra, S.R.; Moorhead, G.F.; Naumov, D.; Nedelec, P.; Nefedov, Yu.; Nguyen-Mau, C.; Orestano, D.; Pastore, F.; Peak, L.S.; Pennacchio, E.; Pessard, H.; Petti, R.; Placci, A.; Polesello, G.; Pollmann, D.; Polyarush, A.; Popov, B.; Poulsen, C.; Rathouit, P.; Rico, J.; Roda, C.; Rubbia, A.; Salvatore, F.; Schahmaneche, K.; Schmidt, B.; Sevior, M.; Sillou, D.; Soler, F.J.P.; Sozzi, G.; Steele, D.; Stiegler, U.; Stipcevic, M.; Stolarczyk, T.; Tareb-Reyes, M.; Taylor, G.N.; Tereshchenko, V.; Toropin, A.; Touchard, A.M.; Tovey, S.N.; Tran, M.T.; Tsesmelis, E.; Ulrichs, J.; Vacavant, L.; Valdata-Nappi, M.; Valuev, V.; Vannucci, F.; Varvell, K.E.; Veltri, M.; Vercesi, V.; Vidal-Sitjes, G.; Vieira, J.M.; Vinogradova, T.; Weber, F.V.; Weisse, T.; Wilson, F.F.; Winton, L.J.; Yabsley, Bruce D.; Zaccone, H.; Zuber, K.; Zuccon, P.

2001-01-01

The inclusive production of the meson resonances $\\rho^{0}(770)$, $f_0(980)$ and $f_2(1270)$ in neutrino-nucleus charged current interactions has been studied with the NOMAD detector exposed to the wide band neutrino beam generated by 450 GeV protons at the CERN SPS. For the first time the $f_{0}(980)$ meson is observed in neutrino interactions. The statistical significance of its observation is 6 standard deviations. The presence of $f_{2}(1270)$ in neutrino interactions is reliably established. The average multiplicity of these three resonances is measured as a function of several kinematic variables. The experimental results are compared to the multiplicities obtained from a simulation based on the Lund model. In addition, the average multiplicity of $\\rho^{0}(770)$ in antineutrino - nucleus interactions is measured.

Dietary regulation of developmental programming in ruminants: epigenetic modifications in the germline.

Science.gov (United States)

Sinclair, K D; Karamitri, A; Gardner, D S

2010-01-01

Ruminants have been utilised extensively to investigate the developmental origins of health and disease, with the sheep serving as the model species of choice to complement dietary studies in the rat and mouse. Surprisingly few studies, however, have investigated delayed effects of maternal undernutrition during pregnancy on adult offspring health and a consistent phenotype, together with underlying mechanistic pathways, has not emerged. Nevertheless, when broad consideration is given to all studies with ruminants it is apparent that interventions that are initiated very early in gestation, and/or prior to conception, lead to greater effects on adult physiology than those that are specifically targeted to late gestation. Effects induced following dietary interventions at the earliest stages of mammalian development have been shown to arise as a consequence of alterations to key epigenetic processes that occur in germ cells and pluripotent embryonic cells. Currently, our understanding of epigenetic programming in the germline is greatest for the mouse, and is considered in detail in this article together with what is known in ruminants. This species imbalance, however, looks set to change as fully annotated genomic maps are developed for domesticated large animal species, and with the advent of 'next-generation' DNA sequencing technologies that have the power to globally map the epigenome at single-base-pair resolution. These developments would help to address such issues as sexually dimorphic epigenetic alterations to DNA methylation that have been found to arise following dietary restrictions during the peri-conceptional period, the effects of paternal nutritional status on epigenetic programming through the germline, and transgenerational studies where, in future, greater emphasis in domesticated ruminants should be placed on traits of agricultural importance.

Advanced paternal age and risk of fetal death: a cohort study

DEFF Research Database (Denmark)

Nybo Andersen, Anne-Marie; Hansen, Kasper Daniel; Andersen, Per Kragh

2004-01-01

Cohort from 1997 to 1999 to assess the association between paternal age and fetal death. Fathers of the pregnancies were identified by record linkage to population registers. The paternal age-related risks of fetal death and its components, early and late fetal loss, were estimated using survival......A possible detrimental paternal age effect on offspring health due to mutations of paternal origin should be reflected in an association between paternal age and fetal loss. The authors used data from a prospective study of 23,821 pregnant women recruited consecutively to the Danish National Birth...... analysis. Pregnancies fathered by a man aged 50 or more years (n = 124) had almost twice the risk of ending in a fetal loss compared with pregnancies with younger fathers (hazard ratio = 1.88, 95% confidence interval: 0.93, 3.82), after adjustment for maternal age, reproductive history, and maternal...

Transgenerational Inheritance of Paternal Neurobehavioral Phenotypes: Stress, Addiction, Ageing and Metabolism.

Science.gov (United States)

Yuan, Ti-Fei; Li, Ang; Sun, Xin; Ouyang, Huan; Campos, Carlos; Rocha, Nuno B F; Arias-Carrión, Oscar; Machado, Sergio; Hou, Gonglin; So, Kwok Fai

2016-11-01

Epigenetic modulation is found to get involved in multiple neurobehavioral processes. It is believed that different types of environmental stimuli could alter the epigenome of the whole brain or related neural circuits, subsequently contributing to the long-lasting neural plasticity of certain behavioral phenotypes. While the maternal influence on the health of offsprings has been long recognized, recent findings highlight an alternative way for neurobehavioral phenotypes to be passed on to the next generation, i.e., through the male germ line. In this review, we focus specifically on the transgenerational modulation induced by environmental stress, drugs of abuse, and other physical or mental changes (e.g., ageing, metabolism, fear) in fathers, and recapitulate the underlying mechanisms potentially mediating the alterations in epigenome or gene expression of offsprings. Together, these findings suggest that the inheritance of phenotypic traits through male germ-line epigenome may represent the unique manner of adaptation during evolution. Hence, more attention should be paid to the paternal health, given its equivalently important role in affecting neurobehaviors of descendants.

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

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Ruben C Arslan

Full Text Available 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.

Global transcriptional repression in C. elegans germline precursors by regulated sequestration of TFIID component TAF-4

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Guven-Ozkan, Tugba; Nishi, Yuichi; Robertson, Scott M.; Lin, Rueyling

2008-01-01

In C. elegans, four asymmetric divisions, beginning with the zygote (P0), generate transcriptionally repressed germline blastomeres (P1–P4) and somatic sisters that become transcriptionally active. The protein PIE-1 represses transcription in the later germline blastomeres, but not in the earlier germline blastomeres P0 and P1. We show here that OMA-1 and OMA-2, previously shown to regulate oocyte maturation, repress transcription in P0 and P1 by binding to and sequestering in the cytoplasm TAF-4, a component critical for assembly of TFIID and the pol II preinitiation complex. OMA-1/2 binding to TAF-4 is developmentally regulated, requiring phosphorylation by the DYRK kinase MBK-2, which is activated at meiosis II following fertilization. OMA-1/2 are normally degraded after the first mitosis, but ectopic expression of wildtype OMA-1 is sufficient to repress transcription in both somatic and later germline blastomeres. We propose that phosphorylation by MBK-2 serves as a developmental switch, converting OMA-1/2 from oocyte to embryo regulators. PMID:18854162

Sperm competition games when males invest in paternal care.

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Requena, Gustavo S; Alonzo, Suzanne H

2017-08-16

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

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

Science.gov (United States)

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 (birth order and the Flynn effect.

The effect of pregnancy on paternal skin allograft survival

Institute of Scientific and Technical Information of China (English)

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2009-01-01

Elucidation of maternal-fetal tolerance mechanisms clarifies the role of regulatory T cells (Treg) in transplant tolerance. This study aim to investigate the effect of pregnancy on paternal skin allograft survival. Flow cytometry techniques, mixed lymphocytes reaction (MLR), PCR, real-time PCR and skin transplantation were key methods. Treg increased significantly from 4.2% before pregnancy to peak at 6.8% day 8 after pregnancy. Both heme oxygenase-1 (HO-1) and indoleamine 2,3-dioxygenase (IDO) mRNA express high in placenta while low in spleen (P<0.05). Although Treg increased during pregnancy, and splenocytes from the pregnant mice showed lower MLR response toward the paternal stimulator, single time pregnancy showed no significant protective effect on paternal skin allograft survival in the tested condition.

Paternal spatial training enhances offspring's cognitive performance and synaptic plasticity in wild-type but not improve memory deficit in Alzheimer's mice.

Science.gov (United States)

Zhang, Shujuan; Li, Xiaoguang; Wang, Zhouyi; Liu, Yanchao; Gao, Yuan; Tan, Lu; Liu, Enjie; Zhou, Qiuzhi; Xu, Cheng; Wang, Xin; Liu, Gongping; Chen, Haote; Wang, Jian-Zhi

2017-05-08

Recent studies suggest that spatial training can maintain associative memory capacity in Tg2576 mice, but it is not known whether the beneficial effects can be inherited from the trained fathers to their offspring. Here, we exposed male wild-type and male 3XTg Alzheimer disease (AD) mice (3-m old) respectively to spatial training for one week and assessed the transgenerational effects in the F1 offspring when they were grown to 7-m old. We found that the paternal spatial training significantly enhanced progeny's spatial cognitive performance and synaptic transmission in wild-type mice. Among several synapse- or memory-associated proteins, we observed that the expression level of synaptotagmin 1 (SYT1) was significantly increased in the hippocampus of the paternally trained-offspring. Paternal training increased histone acetylation at the promoter of SYT1 in both fathers' and the offspring's hippocampus, and as well as in the fathers' sperm. Finally, paternal spatial training for one week did not improve memory and synaptic plasticity in 3XTg AD F1 offspring. Our findings suggest paternal spatial training for one week benefits the offspring's cognitive performance in wild-type mice with the mechanisms involving an enhanced transgenerational histone acetylation at SYT1 promoter.

Methods in Molecular Biology: Germline Stem Cells | Center for Cancer Research

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The protocols in Germline Stem Cells are intended to present selected genetic, molecular, and cellular techniques used in germline stem cell research. The book is divided into two parts. Part I covers germline stem cell identification and regulation in model organisms. Part II covers current techniques used in in vitro culture and applications of germline stem cells.

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

Science.gov (United States)

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

2013-02-01

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

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

OpenAIRE

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

2013-01-01

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 n...

Search for the decay $B^0_s\\to\\overline{D}^0f_0(980)$

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Aaij, Roel; Adinolfi, Marco; Affolder, Anthony; Ajaltouni, Ziad; Akar, Simon; Albrecht, Johannes; Alessio, Federico; Alexander, Michael; Ali, Suvayu; Alkhazov, Georgy; Alvarez Cartelle, Paula; Alves Jr, Antonio Augusto; Amato, Sandra; Amerio, Silvia; Amhis, Yasmine; An, Liupan; Anderlini, Lucio; Anderson, Jonathan; Andreotti, Mirco; Andrews, Jason; Appleby, Robert; Aquines Gutierrez, Osvaldo; Archilli, Flavio; d'Argent, Philippe; Artamonov, Alexander; Artuso, Marina; Aslanides, Elie; Auriemma, Giulio; Baalouch, Marouen; Bachmann, Sebastian; Back, John; Badalov, Alexey; Baesso, Clarissa; Baldini, Wander; Barlow, Roger; Barschel, Colin; Barsuk, Sergey; Barter, William; Batozskaya, Varvara; Battista, Vincenzo; Bay, Aurelio; Beaucourt, Leo; Beddow, John; Bedeschi, Franco; Bediaga, Ignacio; Bel, Lennaert; Belyaev, Ivan; Ben-Haim, Eli; Bencivenni, Giovanni; Benson, Sean; Benton, Jack; Berezhnoy, Alexander; Bernet, Roland; Bertolin, Alessandro; Bettler, Marc-Olivier; van Beuzekom, Martinus; Bien, Alexander; Bifani, Simone; Bird, Thomas; Birnkraut, Alex; Bizzeti, Andrea; Blake, Thomas; Blanc, Frédéric; Blouw, Johan; Blusk, Steven; Bocci, Valerio; Bondar, Alexander; Bondar, Nikolay; Bonivento, Walter; Borghi, Silvia; Borsato, Martino; Bowcock, Themistocles; Bowen, Espen Eie; Bozzi, Concezio; Braun, Svende; Brett, David; Britsch, Markward; Britton, Thomas; Brodzicka, Jolanta; Brook, Nicholas; Bursche, Albert; Buytaert, Jan; Cadeddu, Sandro; Calabrese, Roberto; Calvi, Marta; Calvo Gomez, Miriam; Campana, Pierluigi; Campora Perez, Daniel; Capriotti, Lorenzo; Carbone, Angelo; Carboni, Giovanni; Cardinale, Roberta; Cardini, Alessandro; Carniti, Paolo; Carson, Laurence; Carvalho Akiba, Kazuyoshi; Casanova Mohr, Raimon; Casse, Gianluigi; Cassina, Lorenzo; Castillo Garcia, Lucia; Cattaneo, Marco; Cauet, Christophe; Cavallero, Giovanni; Cenci, Riccardo; Charles, Matthew; Charpentier, Philippe; Chefdeville, Maximilien; Chen, Shanzhen; Cheung, Shu-Faye; Chiapolini, Nicola; Chrzaszcz, Marcin; Cid Vidal, Xabier; Ciezarek, Gregory; Clarke, Peter; Clemencic, Marco; Cliff, Harry; Closier, Joel; Coco, Victor; Cogan, Julien; Cogneras, Eric; Cogoni, Violetta; Cojocariu, Lucian; Collazuol, Gianmaria; Collins, Paula; Comerma-Montells, Albert; Contu, Andrea; Cook, Andrew; Coombes, Matthew; Coquereau, Samuel; Corti, Gloria; Corvo, Marco; Couturier, Benjamin; Cowan, Greig; Craik, Daniel Charles; Crocombe, Andrew; Cruz Torres, Melissa Maria; Cunliffe, Samuel; Currie, Robert; D'Ambrosio, Carmelo; Dalseno, Jeremy; David, Pieter; Davis, Adam; De Bruyn, Kristof; De Capua, Stefano; De Cian, Michel; De Miranda, Jussara; De Paula, Leandro; De Silva, Weeraddana; De Simone, Patrizia; Dean, Cameron Thomas; Decamp, Daniel; Deckenhoff, Mirko; Del Buono, Luigi; Déléage, Nicolas; Derkach, Denis; Deschamps, Olivier; Dettori, Francesco; Dey, Biplab; Di Canto, Angelo; Di Ruscio, Francesco; Dijkstra, Hans; Donleavy, Stephanie; Dordei, Francesca; Dorigo, Mirco; Dosil Suárez, Alvaro; Dossett, David; Dovbnya, Anatoliy; Dreimanis, Karlis; Dujany, Giulio; Dupertuis, Frederic; Durante, Paolo; Dzhelyadin, Rustem; Dziurda, Agnieszka; Dzyuba, Alexey; Easo, Sajan; Egede, Ulrik; Egorychev, Victor; Eidelman, Semen; Eisenhardt, Stephan; Eitschberger, Ulrich; Ekelhof, Robert; Eklund, Lars; El Rifai, Ibrahim; Elsasser, Christian; Ely, Scott; Esen, Sevda; Evans, Hannah Mary; Evans, Timothy; Falabella, Antonio; Färber, Christian; Farinelli, Chiara; Farley, Nathanael; Farry, Stephen; Fay, Robert; Ferguson, Dianne; Fernandez Albor, Victor; Ferrari, Fabio; Ferreira Rodrigues, Fernando; Ferro-Luzzi, Massimiliano; Filippov, Sergey; Fiore, Marco; Fiorini, Massimiliano; Firlej, Miroslaw; Fitzpatrick, Conor; Fiutowski, Tomasz; Fol, Philip; Fontana, Marianna; Fontanelli, Flavio; Forty, Roger; Francisco, Oscar; Frank, Markus; Frei, Christoph; Frosini, Maddalena; Fu, Jinlin; Furfaro, Emiliano; Gallas Torreira, Abraham; Galli, Domenico; Gallorini, Stefano; Gambetta, Silvia; Gandelman, Miriam; Gandini, Paolo; Gao, Yuanning; García Pardiñas, Julián; 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Henry, Louis; Hernando Morata, Jose Angel; van Herwijnen, Eric; Heß, Miriam; Hicheur, Adlène; Hill, Donal; Hoballah, Mostafa; Hombach, Christoph; Hulsbergen, Wouter; Humair, Thibaud; Hussain, Nazim; Hutchcroft, David; Hynds, Daniel; Idzik, Marek; Ilten, Philip; Jacobsson, Richard; Jaeger, Andreas; Jalocha, Pawel; Jans, Eddy; Jawahery, Abolhassan; Jing, Fanfan; John, Malcolm; Johnson, Daniel; Jones, Christopher; Joram, Christian; Jost, Beat; Jurik, Nathan; Kandybei, Sergii; Kanso, Walaa; Karacson, Matthias; Karbach, Moritz; Karodia, Sarah; Kelsey, Matthew; Kenyon, Ian; Kenzie, Matthew; Ketel, Tjeerd; Khanji, Basem; Khurewathanakul, Chitsanu; Klaver, Suzanne; Klimaszewski, Konrad; Kochebina, Olga; Kolpin, Michael; Komarov, Ilya; Koopman, Rose; Koppenburg, Patrick; Korolev, Mikhail; Kravchuk, Leonid; Kreplin, Katharina; Kreps, Michal; Krocker, Georg; Krokovny, Pavel; Kruse, Florian; Kucewicz, Wojciech; Kucharczyk, Marcin; Kudryavtsev, Vasily; Kurek, Krzysztof; Kvaratskheliya, Tengiz; La Thi, Viet Nga; Lacarrere, Daniel; Lafferty, George; Lai, Adriano; Lambert, Dean; Lambert, Robert W; Lanfranchi, Gaia; Langenbruch, Christoph; Langhans, Benedikt; Latham, Thomas; Lazzeroni, Cristina; Le Gac, Renaud; van Leerdam, Jeroen; Lees, Jean-Pierre; Lefèvre, Regis; Leflat, Alexander; Lefrançois, Jacques; Leroy, Olivier; Lesiak, Tadeusz; Leverington, Blake; Li, Yiming; Likhomanenko, Tatiana; Liles, Myfanwy; Lindner, Rolf; Linn, Christian; Lionetto, Federica; Liu, Bo; Lohn, Stefan; Longstaff, Iain; Lopes, Jose; Lucchesi, Donatella; Lucio Martinez, Miriam; Luo, Haofei; Lupato, Anna; Luppi, Eleonora; Lupton, Oliver; Machefert, Frederic; Maciuc, Florin; Maev, Oleg; Malde, Sneha; Malinin, Alexander; Manca, Giulia; Mancinelli, Giampiero; Manning, Peter Michael; Mapelli, Alessandro; Maratas, Jan; Marchand, Jean François; Marconi, Umberto; Marin Benito, Carla; Marino, Pietro; Märki, Raphael; Marks, Jörg; Martellotti, Giuseppe; Martinelli, Maurizio; Martinez Santos, Diego; Martinez Vidal, Fernando; Martins Tostes, Danielle; Massafferri, André; Matev, Rosen; Mathad, Abhijit; Mathe, Zoltan; Matteuzzi, Clara; Matthieu, Kecke; Mauri, Andrea; Maurin, Brice; Mazurov, Alexander; McCann, Michael; McCarthy, James; McNab, Andrew; McNulty, Ronan; Meadows, Brian; Meier, Frank; Meissner, Marco; Merk, Marcel; Milanes, Diego Alejandro; Minard, Marie-Noelle; Mitzel, Dominik Stefan; Molina Rodriguez, Josue; Monteil, Stephane; Morandin, Mauro; Morawski, Piotr; Mordà, Alessandro; Morello, Michael Joseph; Moron, Jakub; Morris, Adam Benjamin; Mountain, Raymond; Muheim, Franz; Müller, Janine; Müller, Katharina; Müller, Vanessa; Mussini, Manuel; Muster, Bastien; Naik, Paras; Nakada, Tatsuya; Nandakumar, Raja; Nasteva, Irina; Needham, Matthew; Neri, Nicola; Neubert, Sebastian; Neufeld, Niko; Neuner, Max; Nguyen, Anh Duc; Nguyen, Thi-Dung; Nguyen-Mau, Chung; Niess, Valentin; Niet, Ramon; Nikitin, Nikolay; Nikodem, Thomas; Ninci, Daniele; Novoselov, Alexey; O'Hanlon, Daniel Patrick; Oblakowska-Mucha, Agnieszka; Obraztsov, Vladimir; Ogilvy, Stephen; Okhrimenko, Oleksandr; Oldeman, Rudolf; Onderwater, Gerco; Osorio Rodrigues, Bruno; Otalora Goicochea, Juan Martin; Otto, Adam; Owen, Patrick; Oyanguren, Maria Aranzazu; Palano, Antimo; Palombo, Fernando; Palutan, Matteo; Panman, Jacob; Papanestis, Antonios; Pappagallo, Marco; Pappalardo, Luciano; Parkes, Christopher; Passaleva, Giovanni; Patel, Girish; Patel, Mitesh; Patrignani, Claudia; Pearce, Alex; Pellegrino, Antonio; Penso, Gianni; Pepe Altarelli, Monica; Perazzini, Stefano; Perret, Pascal; Pescatore, Luca; Petridis, Konstantinos; Petrolini, Alessandro; Petruzzo, Marco; Picatoste Olloqui, Eduardo; Pietrzyk, Boleslaw; Pilař, Tomas; Pinci, Davide; Pistone, Alessandro; Playfer, Stephen; Plo Casasus, Maximo; Poikela, Tuomas; Polci, Francesco; Poluektov, Anton; Polyakov, Ivan; Polycarpo, Erica; Popov, Alexander; Popov, Dmitry; Popovici, Bogdan; Potterat, Cédric; Price, Eugenia; Price, Joseph David; Prisciandaro, Jessica; Pritchard, Adrian; Prouve, Claire; Pugatch, Valery; Puig Navarro, Albert; Punzi, Giovanni; Qian, Wenbin; Quagliani, Renato; Rachwal, Bartolomiej; Rademacker, Jonas; Rakotomiaramanana, Barinjaka; Rama, Matteo; Rangel, Murilo; Raniuk, Iurii; Rauschmayr, Nathalie; Raven, Gerhard; Redi, Federico; Reichert, Stefanie; Reid, Matthew; dos Reis, Alberto; Ricciardi, Stefania; Richards, Sophie; Rihl, Mariana; Rinnert, Kurt; Rives Molina, Vincente; Robbe, Patrick; Rodrigues, Ana Barbara; Rodrigues, Eduardo; Rodriguez Lopez, Jairo Alexis; Rodriguez Perez, Pablo; Roiser, Stefan; Romanovsky, Vladimir; Romero Vidal, Antonio; Rotondo, Marcello; Rouvinet, Julien; Ruf, Thomas; Ruiz, Hugo; Ruiz Valls, Pablo; Saborido Silva, Juan Jose; Sagidova, Naylya; Sail, Paul; Saitta, Biagio; Salustino Guimaraes, Valdir; Sanchez Mayordomo, Carlos; Sanmartin Sedes, Brais; Santacesaria, Roberta; Santamarina Rios, Cibran; Santovetti, Emanuele; Sarti, Alessio; Satriano, Celestina; Satta, Alessia; Saunders, Daniel Martin; Savrina, Darya; Schiller, Manuel; Schindler, Heinrich; Schlupp, Maximilian; Schmelling, Michael; Schmelzer, Timon; Schmidt, Burkhard; Schneider, Olivier; Schopper, Andreas; Schune, Marie Helene; Schwemmer, Rainer; Sciascia, Barbara; Sciubba, Adalberto; Semennikov, Alexander; Sepp, Indrek; Serra, Nicola; Serrano, Justine; Sestini, Lorenzo; Seyfert, Paul; Shapkin, Mikhail; Shapoval, Illya; Shcheglov, Yury; Shears, Tara; Shekhtman, Lev; Shevchenko, Vladimir; Shires, Alexander; Silva Coutinho, Rafael; Simi, Gabriele; Sirendi, Marek; Skidmore, Nicola; Skillicorn, Ian; Skwarnicki, Tomasz; Smith, Edmund; Smith, Eluned; Smith, Jackson; Smith, Mark; Snoek, Hella; Sokoloff, Michael; Soler, Paul; Soomro, Fatima; Souza, Daniel; Souza De Paula, Bruno; Spaan, Bernhard; Spradlin, Patrick; Sridharan, Srikanth; Stagni, Federico; Stahl, Marian; Stahl, Sascha; Steinkamp, Olaf; Stenyakin, Oleg; Sterpka, Christopher Francis; Stevenson, Scott; Stoica, Sabin; Stone, Sheldon; Storaci, Barbara; Stracka, Simone; Straticiuc, Mihai; Straumann, Ulrich; Stroili, Roberto; Sun, Liang; Sutcliffe, William; Swientek, Krzysztof; Swientek, Stefan; Syropoulos, Vasileios; Szczekowski, Marek; Szczypka, Paul; Szumlak, Tomasz; T'Jampens, Stephane; Tekampe, Tobias; Teklishyn, Maksym; Tellarini, Giulia; Teubert, Frederic; Thomas, Christopher; Thomas, Eric; van Tilburg, Jeroen; Tisserand, Vincent; Tobin, Mark; Todd, Jacob; Tolk, Siim; Tomassetti, Luca; Tonelli, Diego; Topp-Joergensen, Stig; Torr, Nicholas; Tournefier, Edwige; Tourneur, Stephane; Trabelsi, Karim; Tran, Minh Tâm; Tresch, Marco; Trisovic, Ana; Tsaregorodtsev, Andrei; Tsopelas, Panagiotis; Tuning, Niels; Ukleja, Artur; Ustyuzhanin, Andrey; Uwer, Ulrich; Vacca, Claudia; Vagnoni, Vincenzo; Valenti, Giovanni; Vallier, Alexis; Vazquez Gomez, Ricardo; Vazquez Regueiro, Pablo; Vázquez Sierra, Carlos; Vecchi, Stefania; Velthuis, Jaap; Veltri, Michele; Veneziano, Giovanni; Vesterinen, Mika; Viaud, Benoit; Vieira, Daniel; Vieites Diaz, Maria; Vilasis-Cardona, Xavier; Vollhardt, Achim; Volyanskyy, Dmytro; Voong, David; Vorobyev, Alexey; Vorobyev, Vitaly; Voß, Christian; de Vries, Jacco; Waldi, Roland; Wallace, Charlotte; Wallace, Ronan; Walsh, John; Wandernoth, Sebastian; Wang, Jianchun; Ward, David; Watson, Nigel; Websdale, David; Weiden, Andreas; Whitehead, Mark; Wiedner, Dirk; Wilkinson, Guy; Wilkinson, Michael; Williams, Mark Richard James; Williams, Matthew; Williams, Mike; Wilson, Fergus; Wimberley, Jack; Wishahi, Julian; Wislicki, Wojciech; Witek, Mariusz; Wormser, Guy; Wotton, Stephen; Wright, Simon; Wyllie, Kenneth; Xie, Yuehong; Xu, Zhirui; Yang, Zhenwei; Yuan, Xuhao; Yushchenko, Oleg; Zangoli, Maria; Zavertyaev, Mikhail; Zhang, Liming; Zhang, Yanxi; Zhelezov, Alexey; Zhokhov, Anatoly; Zhong, Liang

2015-08-03

A search for $B_s^0 \\to \\overline{D}^{0} f_{0}(980)$ decays is performed using $3.0\\, {\\rm fb}^{-1}$ of $pp$ collision data recorded by the LHCb experiment during 2011 and 2012. The $f_{0}(980)$ meson is reconstructed through its decay to the $\\pi^{+}\\pi^{-}$ final state in the mass window $900\\, {\\rm MeV}/c^{2} < m(\\pi^{+}\\pi^{-}) < 1080\\, {\\rm MeV}/c^{2}$. No significant signal is observed. The first upper limits on the branching fraction of $\\mathcal{B}(B_s^0 \\to \\overline{D}^{0} f_{0}(980)) < 3.1\\,(3.4) \\times 10^{-6}$ are set at $90\\%$ ($95\\%$) confidence level.

Adolescent obesity and maternal and paternal sensitivity and monitoring.

Science.gov (United States)

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

2011-06-01

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

Production of germline transgenic prairie voles (Microtus ochrogaster) using lentiviral vectors.

Science.gov (United States)

Donaldson, Zoe R; Yang, Shang-Hsun; Chan, Anthony W S; Young, Larry J

2009-12-01

The study of alternative model organisms has yielded tremendous insights into the regulation of behavioral and physiological traits not displayed by more widely used animal models, such as laboratory rats and mice. In particular, comparative approaches often exploit species ideally suited for investigating specific phenomenon. For instance, comparative studies of socially monogamous prairie voles and polygamous meadow voles have been instrumental toward gaining an understanding of the genetic and neurobiological basis of social bonding. However, laboratory studies of less commonly used organisms, such as prairie voles, have been limited by a lack of genetic tools, including the ability to manipulate the genome. Here, we show that lentiviral vector-mediated transgenesis is a rapid and efficient approach for creating germline transgenics in alternative laboratory rodents. Injection of a green fluorescent protein (GFP)-expressing lentiviral vector into the perivitelline space of 23 single-cell embryos yielded three live offspring (13 %), one of which (33%) contained germline integration of a GFP transgene driven by the human ubiquitin-C promoter. In comparison, transfer of 23 uninjected embryos yielded six live offspring (26%). Green fluorescent protein is present in all tissues examined and is expressed widely in the brain. The GFP transgene is heritable and stably expressed until at least the F(2) generation. This technology has the potential to allow investigation of specific gene candidates in prairie voles and provides a general protocol to pursue germline transgenic manipulation in many different rodent species.

Religion as a means to assure paternity.

Science.gov (United States)

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.

Effects of neonatal paternal deprivation or early deprivation on anxiety and social behaviors of the adults in mandarin voles.

Science.gov (United States)

Jia, Rui; Tai, Fadao; An, Shucheng; Zhang, Xia; Broders, Hugh

2009-11-01

This study examined whether neonatal paternal deprivation (PD: father was removed and pups were raised just by mother) or early deprivation (ED: pups were raised by both parents except separated from not only the dam but also the peers for three hours a day from PND 0 to 13) has long-term effects on anxiety and social behaviors of adult mandarin voles. Newborn mandarin voles of F2 generation were randomly assigned to one of three groups: bi-parental care (PC: pups were raised by both parents), PD and ED. The parental care behaviors of F1 generation were observed at the age of 0, 13 and 21 days (PND 0, 13, 21) of F2 generation of PC and PD groups. Moreover, each mandarin vole of F2 generation received an open field test and a social interaction test on PND 70 and PND 75, respectively. No significant differences of parental behavior were observed between mothers and fathers from PC families, showing typical parental behavior of socially monogamous rodents. In addition, no significant differences of maternal behaviors were found between mothers from PC and PD families, indicating no maternal compensation towards pups for the absence of the paternal care. In the open field test, mandarin voles from both PD and ED families displayed higher levels of anxiety and lower locomotor activity, relative to offspring of PC family. In the social interaction test, both PD and ED mandarin voles also showed lower levels of social behavior and higher levels of anxiety. Thus, both PD and ED significantly increase anxiety and reduce social behavior of adult mandarin voles, suggesting that variation in parental investment may lead to variation in anxiety and social behaviors in rodents with different mating systems.

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

Science.gov (United States)

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

1990-09-01

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

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

Science.gov (United States)

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

2016-12-12

Father-child interactions are associated with improved developmental outcomes among infants. However, to the best of our knowledge, no study has addressed the effects of paternal involvement on the neurodevelopment of infants who are less than 6 months of age, and no study has reported how maternal parenting stress mediates the relationship between paternal involvement and infant neurodevelopment during early infancy. This study investigates the direct and indirect relationship between paternal involvement and infant neurodevelopment at 3-4 months of age. The indirect relationship was assessed through the mediating factor of maternal parenting stress. The participants were recruited through the Sesalmaul Research Center's website from April to June 2014. The final data included 255 mothers and their healthy infants, who were aged 3-4 months. The mothers reported paternal involvement and maternal parenting stress by using Korean Parenting Alliance Inventory (K-PAI) and Parenting Stress Index (PSI), respectively. Experts visited the participants' homes to observe infant neurodevelopment, and completed a developmental examination using Korean version of the Ages and Stages Questionnaire II (K-ASQ II). A hierarchical multiple regression analysis was used for data analysis. Infants' mean ages were 106 days and girls accounted for 46.3%. The mean total scores (reference range) of the K-PAI, PSI, and the K-ASQ II were 55.5 (17-68), 45.8 (25-100), and 243.2 (0-300), respectively. Paternal involvement had a positive relationship with K-ASQ II scores (β = 0.29, p parenting stress was negatively related with K-ASQ II scores (β = -0.32, p parenting stress mediated the relationship between paternal involvement and early infant neurodevelopment (Z = 3.24, p parenting stress (β = -0.25, p parenting stress partially mediates that association. This result emphasizes the importance of fathers' involvement and mothers' parenting stress on early infant

RAD50 germline mutations are associated with poor survival in BRCA1/2-negative breast cancer patients.

Science.gov (United States)

Fan, Cong; Zhang, Juan; Ouyang, Tao; Li, Jinfeng; Wang, Tianfeng; Fan, Zhaoqing; Fan, Tie; Lin, Benyao; Xie, Yuntao

2018-05-04

RAD50 is a highly conserved DNA double-strand break (DSB) repair gene. However, the associations between RAD50 germline mutations and the survival and risk of breast cancer have not been fully elucidated. Here, we aimed to investigate the clinical impact of RAD50 germline mutations in a large cohort of unselected breast cancer patients. In this study, RAD50 germline mutations were determined using next-generation sequencing in 7657 consecutive unselected breast cancer patients without BRCA1/2 mutations. We also screened for RAD50 recurrent mutations (L719fs, K994fs, and H1269fs) in 5000 healthy controls using Sanger sequencing. We found that 26 out of 7657 (0.34%) patients had RAD50 pathogenic mutations, and 16 patients carried one of the three recurrent mutations (L719fs, n=6 cases; K994fs, n=5 cases; and H1269fs, n=5 cases); the recurrent mutation rate was 0.21%. The frequency of the three recurrent mutations in the 5000 healthy controls was 0.18% (9/5000). These mutations did not confer an increased risk of breast cancer in the studied patients [odds ratios (OR), 1.16; 95% confidence interval (CI), 0.51-2.63; P = 0.72]. Nevertheless, multivariate analysis revealed that RAD50 pathogenic mutations were an independent unfavourable predictor of recurrence-free survival (RFS) [adjusted hazard ratio (HR) 2.66; 95% CI, 1.18-5.98; P=0.018] and disease-specific survival (DSS) (adjusted HR 4.36; 95% CI, 1.58-12.03; P=0.004) in the entire study cohort. Our study suggested that RAD50 germline mutations are not associated with an increased risk of breast cancer, but patients with RAD50 germline mutations have unfavourable survival compared with patients without these mutations. This article is protected by copyright. All rights reserved. © 2018 UICC.

First observation of $B^{0}_{s} \\to J/\\psi f_{0}$(980) decays

CERN Document Server

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Steinkamp, O; Stenyakin, O; Stoica, S; Stone, S; Storaci, B; Straumann, U; Styles, N; Szczekowski, M; Szczypka, P; Szumlak, T; T'Jampens, S; Talanov, V; Teodorescu, E; Terrier, H; Teubert, F; Thomas, C; Thomas, E; van Tilburg, J; Tisserand, V; Tobin, M; Topp-Joergensen, S; Tran, M T; Tsaregorodtsev, A; Tuning, N; Ukleja, A; Urquijo, P; Uwer, U; Vagnoni, V; Valenti, G; Vazquez Gomez, R; Vazquez Regueiro, P; Vecchi, S; Velthuis, J J; Veltri, M; Vervink, K; Viaud, B; Videau, I; Vilasis-Cardona, X; Visniakov, J; Vollhardt, A; Voong, D; Vorobyev, A; Vorobyev, An; Voss, H; Wacker, K; Wandernoth, S; Wang, J; Ward, D R; Webber, A D; Websdale, D; Whitehead, M; Wiedner, D; Wiggers, L; Wilkinson, G; Williams, M P; Williams, M; Wilson, F F; Wishahi, J; Witek, M; Witzeling, W; Wotton, S A; Wyllie, K; Xie, Y; Xing, F; Yang, Z; Ybeles Smit, G; Young, R; Yushchenko, O; Zavertyaev, M; Zhang, L; Zhang, W C; Zhang, Y; Zhelezov, A; Zhong, L; Zverev, E

2011-01-01

Using data collected with the LHCb detector in proton-proton collisions at a centre-of-mass energy of 7 TeV, the hadronic decay $B^{0}_{s} \\to J/\\psi f_{0}$(980) is observed. This CP eigenstate mode could be used to measure mixing-induced CP violation in the $B^0_s$ system. Using a fit to the $\\pi^+ \\pi^-$ mass spectrum with interfering resonances gives $R_{f_0/\\phi}$ = $[\\Gamma(B^0 _s -> J/\\psi f0, f0 -> \\pi+ \\pi-)]/[\\Gamma(B^0 _s -> J/\\psi \\phi, \\phi -> K+K-)] = 0.252^{+0.046+0.027}_{-0.032-0.033}$, where the uncertainties are statistical and systematic, respectively.

The Canonical E2Fs Are Required for Germline Development in Arabidopsis

Directory of Open Access Journals (Sweden)

Xiaozhen Yao

2018-05-01

Full Text Available A number of cell fate determinations, including cell division, cell differentiation, and programmed cell death, intensely occur during plant germline development. How these cell fate determinations are regulated remains largely unclear. The transcription factor E2F is a core cell cycle regulator. Here we show that the Arabidopsis canonical E2Fs, including E2Fa, E2Fb, and E2Fc, play a redundant role in plant germline development. The e2fa e2fb e2fc (e2fabc triple mutant is sterile, although its vegetative development appears normal. On the one hand, the e2fabc microspores undergo cell death during pollen mitosis. Microspores start to die at the bicellular stage. By the tricellular stage, the majority of the e2fabc microspores are degenerated. On the other hand, a wild type ovule often has one megaspore mother cell (MMC, whereas the majority of e2fabc ovules have two to three MMCs. The subsequent female gametogenesis of e2fabc mutant is aborted and the vacuole is severely impaired in the embryo sac. Analysis of transmission efficiency showed that the canonical E2Fs from both male and female gametophyte are essential for plant gametogenesis. Our study reveals that the canonical E2Fs are required for plant germline development, especially the pollen mitosis and the archesporial cell (AC-MMC transition.

Germline contamination and leakage in whole genome somatic single nucleotide variant detection.

Science.gov (United States)

Sendorek, Dorota H; Caloian, Cristian; Ellrott, Kyle; Bare, J Christopher; Yamaguchi, Takafumi N; Ewing, Adam D; Houlahan, Kathleen E; Norman, Thea C; Margolin, Adam A; Stuart, Joshua M; Boutros, Paul C

2018-01-31

The clinical sequencing of cancer genomes to personalize therapy is becoming routine across the world. However, concerns over patient re-identification from these data lead to questions about how tightly access should be controlled. It is not thought to be possible to re-identify patients from somatic variant data. However, somatic variant detection pipelines can mistakenly identify germline variants as somatic ones, a process called "germline leakage". The rate of germline leakage across different somatic variant detection pipelines is not well-understood, and it is uncertain whether or not somatic variant calls should be considered re-identifiable. To fill this gap, we quantified germline leakage across 259 sets of whole-genome somatic single nucleotide variant (SNVs) predictions made by 21 teams as part of the ICGC-TCGA DREAM Somatic Mutation Calling Challenge. The median somatic SNV prediction set contained 4325 somatic SNVs and leaked one germline polymorphism. The level of germline leakage was inversely correlated with somatic SNV prediction accuracy and positively correlated with the amount of infiltrating normal cells. The specific germline variants leaked differed by tumour and algorithm. To aid in quantitation and correction of leakage, we created a tool, called GermlineFilter, for use in public-facing somatic SNV databases. The potential for patient re-identification from leaked germline variants in somatic SNV predictions has led to divergent open data access policies, based on different assessments of the risks. Indeed, a single, well-publicized re-identification event could reshape public perceptions of the values of genomic data sharing. We find that modern somatic SNV prediction pipelines have low germline-leakage rates, which can be further reduced, especially for cloud-sharing, using pre-filtering software.

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

Science.gov (United States)

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

2010-11-01

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

Paternity leave experiences of NHS doctors.

Science.gov (United States)

Gordon, Hannah; Szram, Joanna

2013-10-01

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

Advanced paternal age and stillbirth rate

DEFF Research Database (Denmark)

Urhøj, Stine Kjær; Andersen, Per Kragh; Mortensen, Laust Hvas

2017-01-01

Advanced paternal age has been associated with a variety of rare conditions and diseases of great public health impact. An increased number of de novo point mutations in sperm with increasing age have been suggested as a mechanism, which would likely also affect fetal viability. We examined...... the association between paternal age and stillbirth rate in a large nationwide cohort. We identified all pregnancies in Denmark from 1994 to 2010 carried to a gestational age of at least 22 completed weeks (n = 944,031) as registered in national registers and linked to individual register data about the parents....... The hazard ratio of stillbirth according to paternal age was estimated, adjusted for maternal age in 1-year categories, year of outcome, and additionally parental educational levels. The relative rate of stillbirth (n = 4946) according to paternal age was found to be J-shaped with the highest hazard ratio...

Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families.

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Ching-Ni Jenny Njauw

Full Text Available BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM and germline inactivation in a few individuals from cancer-prone families. These findings suggest that constitutional BAP1 changes may predispose individuals to metastatic OM and that familial permeation of deleterious alleles could delineate a new cancer syndrome.To characterize BAP1's contribution to melanoma risk, we sequenced BAP1 in a set of 100 patients with OM, including 50 metastatic OM cases and 50 matched non-metastatic OM controls, and 200 individuals with cutaneous melanoma (CM including 7 CM patients from CM-OM families and 193 CM patients from CM-non-OM kindreds.Germline BAP1 mutations were detected in 4/50 patients with metastatic OM and 0/50 cases of non-metastatic OM (8% vs. 0%, p = 0.059. Since 2/4 of the BAP1 carriers reported a family history of CM, we analyzed 200 additional hereditary CM patients and found mutations in 2/7 CM probands from CM-OM families and 1/193 probands from CM-non-OM kindreds (29% vs. 0.52%, p = .003. Germline mutations co-segregated with both CM and OM phenotypes and were associated with the presence of unique nevoid melanomas and highly atypical nevoid melanoma-like melanocytic proliferations (NEMMPs. Interestingly, 7/14 germline variants identified to date reside in C-terminus suggesting that the BRCA1 binding domain is important in cancer predisposition.Germline BAP1 mutations are associated with a more aggressive OM phenotype and a recurrent phenotypic complex of cutaneous/ocular melanoma, atypical melanocytic proliferations and other internal neoplasms (ie. COMMON syndrome, which could be a useful clinical marker for constitutive BAP1 inactivation.

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

Science.gov (United States)

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

2011-02-15

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

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

Directory of Open Access Journals (Sweden)

Anna C Svensson

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

Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

Science.gov (United States)

Maranchie, Jodi K; Afonso, Anoushka; Albert, Paul S; Kalyandrug, Sivaram; Phillips, John L; Zhou, Shubo; Peterson, James; Ghadimi, Bijan M; Hurley, Katheen; Riss, Joseph; Vasselli, James R; Ried, Thomas; Zbar, Berton; Choyke, Peter; Walther, McClellan M; Klausner, Richard D; Linehan, W Marston

2004-01-01

von Hippel Lindau disease (VHL) is an autosomal dominant familial cancer syndrome linked to alteration of the VHL tumor suppressor gene. Affected patients are predisposed to develop pheochromocytomas and cystic and solid tumors of the kidney, CNS, pancreas, retina, and epididymis. However, organ involvement varies considerably among families and has been shown to correlate with the underlying germline alteration. Clinically, we observed a paradoxically lower prevalence of renal cell carcinoma (RCC) in patients with complete germline deletion of VHL. To determine if a relationship existed between the type of VHL deletion and disease, we retrospectively evaluated 123 patients from 55 families with large germline VHL deletions, including 42 intragenic partial deletions and 13 complete VHL deletions, by history and radiographic imaging. Each individual and family was scored for cystic or solid involvement of CNS, pancreas, and kidney, and for pheochromocytoma. Germline deletions were mapped using a combination of fluorescent in situ hybridization (FISH) and quantitative Southern and Southern blot analysis. An age-adjusted comparison demonstrated a higher prevalence of RCC in patients with partial germline VHL deletions relative to complete deletions (48.9 vs. 22.6%, p=0.007). This striking phenotypic dichotomy was not seen for cystic renal lesions or for CNS (p=0.22), pancreas (p=0.72), or pheochromocytoma (p=0.34). Deletion mapping revealed that development of RCC had an even greater correlation with retention of HSPC300 (C3orf10), located within the 30-kb region of chromosome 3p, immediately telomeric to VHL (52.3 vs. 18.9%, p <0.001), suggesting the presence of a neighboring gene or genes critical to the development and maintenance of RCC. Careful correlation of genotypic data with objective phenotypic measures will provide further insight into the mechanisms of tumor formation. Copyright 2003 Wiley-Liss, Inc.

Effect of prenatal alcohol exposure on childhood academic outcomes: contrasting maternal and paternal associations in the ALSPAC study.

Directory of Open Access Journals (Sweden)

Rosa Alati

Full Text Available The impact of low-to-moderate levels of alcohol consumption during pregnancy on child cognitive outcomes has been of recent concern. This study has tested the hypothesis that low-to-moderate maternal alcohol use in pregnancy is associated with lower school test scores at age 11 in the offspring via intrauterine mechanisms.We used data from the Avon Longitudinal Study of Parents and Children (ALSPAC, a birth cohort study based in the South West of England. Analyses were conducted on 7062 participants who had complete data on: maternal and paternal patterns of alcohol use in the first trimester and at 18 weeks' gestation, child's academic outcomes measured at age 11, gender, maternal age, parity, marital status, ethnicity, household crowding, home ownership status and parental education. We contrasted the association of mother's alcohol consumption during pregnancy with child's National Curriculum Key Stage 2 (KS2 test scores with the association for father's alcohol consumption (during the time the mother was pregnant with child's National Curriculum Key Stage 2 (KS2 test scores. We used multivariate linear regression to estimate mean differences and 95% confidence intervals [CI] in KS2 scores across the exposure categories and computed f statistics to compare maternal and paternal associations.Drinking up to 1 unit of alcohol a day during pregnancy was not associated with lower test scores. However, frequent prenatal consumption of 4 units (equivalent to 32 grams of alcohol on each single drinking occasion was associated with reduced educational attainment [Mean change in offspring KS2 score was -0.68 (-1.03, -0.33 for maternal alcohol categories compared to 0.27 (0.07, 0.46 for paternal alcohol categories]. Frequent consumption of 4 units of alcohol during pregnancy may adversely affect childhood academic outcomes via intrauterine mechanisms.

Structure and function of the latent F0-F1-ATPase complex of Micrococcus lysodeikticus

International Nuclear Information System (INIS)

Chung, Y.S.

1988-01-01

The latent F 0 F 1 -ATPase from Micrococcus luteus (lysodeikticus) has been purified to homogeneity, and nine distinct subunit bands were observed on SDS-PAGE. Five of nine bands corresponded to the F 1 subunits and the other four bands are likely to be subunits a, a', b, and c of the F 0 segment of the complex. The subunit designated as a' probably arises from proteolytic cleavage of the 25,5000 Mr subunit a. The F 0 F 1 -ATPase complex has a molecular weight of approximately 1,060,000, as determined by Fast Protein Liquid Chromatography (FPLC). It is assumed that the F 0 F 1 -ATPase peak obtained by FPLC was a dimer and that molecular weight of the F 0 F 1 -ATPase monomer was accordingly 530,000. The stoichiometry of the subunits was determined with 14 C-labeled F 0 F 1 -ATPase prepared from cells grown on medium containing 14 C-amino acids. Antibodies to the native and SDS-denatured F 1 and F 0 F 1 -ATPase as well as to individual SDS-dissociated subunits have been generated for immunochemical analysis. The arrangement of the subunits in F 1 and F 0 F 1 -ATPase have been investigated using bifunctional chemical cross-linking agents

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

Science.gov (United States)

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

2009-08-01

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

Avian paternal care had dinosaur origin.

Science.gov (United States)

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

2008-12-19

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

ISFG: Recommendations on biostatistics in paternity testing

DEFF Research Database (Denmark)

Gjertson, David W; Brenner, Charles H; Baur, Max P

2007-01-01

The Paternity Testing Commission (PTC) of the International Society for Forensic Genetics has taken up the task of establishing the biostatistical recommendations in accordance with the ISO 17025 standards and a previous set of ISFG recommendations specific to the genetic investigations...... in paternity cases. In the initial set, the PTC recommended that biostatistical evaluations of paternity are based on a likelihood ratio principle - yielding the paternity index, PI. Here, we have made five supplementary biostatistical recommendations. The first recommendation clarifies and defines basic...... concepts of genetic hypotheses and calculation concerns needed to produce valid PIs. The second and third recommendations address issues associated with population genetics (allele probabilities, Y-chromosome markers, mtDNA, and population substructuring) and special circumstances (deficiency...

Identification of germline transcriptional regulatory elements in Aedes aegypti

Science.gov (United States)

Akbari, Omar S.; Papathanos, Philippos A.; Sandler, Jeremy E.; Kennedy, Katie; Hay, Bruce A.

2014-02-01

The mosquito Aedes aegypti is the principal vector for the yellow fever and dengue viruses, and is also responsible for recent outbreaks of the alphavirus chikungunya. Vector control strategies utilizing engineered gene drive systems are being developed as a means of replacing wild, pathogen transmitting mosquitoes with individuals refractory to disease transmission, or bringing about population suppression. Several of these systems, including Medea, UDMEL, and site-specific nucleases, which can be used to drive genes into populations or bring about population suppression, utilize transcriptional regulatory elements that drive germline-specific expression. Here we report the identification of multiple regulatory elements able to drive gene expression specifically in the female germline, or in the male and female germline, in the mosquito Aedes aegypti. These elements can also be used as tools with which to probe the roles of specific genes in germline function and in the early embryo, through overexpression or RNA interference.

Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression.

Science.gov (United States)

Cabreira, Verónica; Pinto, Carla; Pinheiro, Manuela; Lopes, Paula; Peixoto, Ana; Santos, Catarina; Veiga, Isabel; Rocha, Patrícia; Pinto, Pedro; Henrique, Rui; Teixeira, Manuel R

2017-01-01

Lynch syndrome (LS) accounts for up to 4 % of all colorectal cancers (CRC). Detection of a pathogenic germline mutation in one of the mismatch repair genes is the definitive criterion for LS diagnosis, but it is time-consuming and expensive. Immunohistochemistry is the most sensitive prescreening test and its predictive value is very high for loss of expression of MSH2, MSH6, and (isolated) PMS2, but not for MLH1. We evaluated if LS predictive models have a role to improve the molecular testing algorithm in this specific setting by studying 38 individuals referred for molecular testing and who were subsequently shown to have loss of MLH1 immunoexpression in their tumors. For each proband we calculated a risk score, which represents the probability that the patient with CRC carries a pathogenic MLH1 germline mutation, using the PREMM 1,2,6 and MMRpro predictive models. Of the 38 individuals, 18.4 % had a pathogenic MLH1 germline mutation. MMRpro performed better for the purpose of this study, presenting a AUC of 0.83 (95 % CI 0.67-0.9; P < 0.001) compared with a AUC of 0.68 (95 % CI 0.51-0.82, P = 0.09) for PREMM 1,2,6 . Considering a threshold of 5 %, MMRpro would eliminate unnecessary germline mutation analysis in a significant proportion of cases while keeping very high sensitivity. We conclude that MMRpro is useful to correctly predict who should be screened for a germline MLH1 gene mutation and propose an algorithm to improve the cost-effectiveness of LS diagnosis.

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.

Science.gov (United States)

Virts, Elizabeth L; Jankowska, Anna; Mackay, Craig; Glaas, Marcel F; Wiek, Constanze; Kelich, Stephanie L; Lottmann, Nadine; Kennedy, Felicia M; Marchal, Christophe; Lehnert, Erik; Scharf, Rüdiger E; Dufour, Carlo; Lanciotti, Marina; Farruggia, Piero; Santoro, Alessandra; Savasan, Süreyya; Scheckenbach, Kathrin; Schipper, Jörg; Wagenmann, Martin; Lewis, Todd; Leffak, Michael; Farlow, Janice L; Foroud, Tatiana M; Honisch, Ellen; Niederacher, Dieter; Chakraborty, Sujata C; Vance, Gail H; Pruss, Dmitry; Timms, Kirsten M; Lanchbury, Jerry S; Alpi, Arno F; Hanenberg, Helmut

2015-09-15

Fanconi anemia (FA) is a rare inherited disorder clinically characterized by congenital malformations, progressive bone marrow failure and cancer susceptibility. At the cellular level, FA is associated with hypersensitivity to DNA-crosslinking genotoxins. Eight of 17 known FA genes assemble the FA E3 ligase complex, which catalyzes monoubiquitination of FANCD2 and is essential for replicative DNA crosslink repair. Here, we identify the first FA patient with biallelic germline mutations in the ubiquitin E2 conjugase UBE2T. Both mutations were aluY-mediated: a paternal deletion and maternal duplication of exons 2-6. These loss-of-function mutations in UBE2T induced a cellular phenotype similar to biallelic defects in early FA genes with the absence of FANCD2 monoubiquitination. The maternal duplication produced a mutant mRNA that could encode a functional protein but was degraded by nonsense-mediated mRNA decay. In the patient's hematopoietic stem cells, the maternal allele with the duplication of exons 2-6 spontaneously reverted to a wild-type allele by monoallelic recombination at the duplicated aluY repeat, thereby preventing bone marrow failure. Analysis of germline DNA of 814 normal individuals and 850 breast cancer patients for deletion or duplication of UBE2T exons 2-6 identified the deletion in only two controls, suggesting aluY-mediated recombinations within the UBE2T locus are rare and not associated with an increased breast cancer risk. Finally, a loss-of-function germline mutation in UBE2T was detected in a high-risk breast cancer patient with wild-type BRCA1/2. Cumulatively, we identified UBE2T as a bona fide FA gene (FANCT) that also may be a rare cancer susceptibility gene. © The Author 2015. Published by Oxford University Press.

Paternal Age Alters Social Development in Offspring.

Science.gov (United States)

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

2017-05-01

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

Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Science.gov (United States)

Huang, Dong-Sheng; Tao, Hou-Quan; He, Xu-Jun; Long, Ming; Yu, Sheng; Xia, Ying-Jie; Wei, Zhang; Xiong, Zikai; Jones, Sian; He, Yiping; Yan, Hai; Wang, Xiaoyue

2015-12-01

Besides CDH1, few hereditary gastric cancer predisposition genes have been previously reported. In this study, we discovered two germline ATM mutations (p.Y1203fs and p.N1223S) in a Chinese family with a history of gastric cancer by screening 83 cancer susceptibility genes. Using a published exome sequencing dataset, we found deleterious germline mutations of ATM in 2.7% of 335 gastric cancer patients of different ethnic origins. The frequency of deleterious ATM mutations in gastric cancer patients is significantly higher than that in general population (p=0.0000435), suggesting an association of ATM mutations with gastric cancer predisposition. We also observed biallelic inactivation of ATM in tumors of two gastric cancer patients. Further evaluation of ATM mutations in hereditary gastric cancer will facilitate genetic testing and risk assessment.

Demonstration of paternal inheritance of plastids in Picea (Pinaceae)

International Nuclear Information System (INIS)

Stine, M.

1988-01-01

Chloroplast DNA (cpDNA) was purified from Picea glauca, P. pungens, P. engelmannii, and P. omorika, and was digested with several restriction endonucleases. Interspecific restriction fragment length polymorphisms (RFLPs) of cpDNA were identified. The RFLPs were identified as cpDNA by the hybridization of cloned, 32 -P labeled, petunia cpDNA to the polymorphic bands, and by the lack of hybridization of a cloned and labeled mtDNA probe from maize. Chloroplast DNA RFLPs that showed no intraspecific variation when examined across the natural range for each species, were used as markers to follow the inheritance of plastids in interspecific hybrids. The inheritance of plastids was determined for F 1 -hybrids from reciprocal crosses of P. glauca and P. pungens, P. glauca and P. omorika, and F 1 -hybrids of P. engelmannii x pungens. All 31 F 1 -hybrids examined showed the cpDNA genotypes of the pollen parent, or the paternal species

Isolation and characterization of string-forming female germline stem cells from ovaries of neonatal mice.

Science.gov (United States)

Liu, Jing; Shang, Dantong; Xiao, Yao; Zhong, Pei; Cheng, Hanhua; Zhou, Rongjia

2017-09-29

Germline stem cells are essential in the generation of both male and female gametes. In mammals, the male testis produces sperm throughout the entire lifetime, facilitated by testicular germline stem cells. Oocyte renewal ceases in postnatal or adult life in mammalian females, suggesting that germline stem cells are absent from the mammalian ovary. However, studies in mice, rats, and humans have recently provided evidence for ovarian female germline stem cells (FGSCs). A better understanding of the role of FGSCs in ovaries could help improve fertility treatments. Here, we developed a rapid and efficient method for isolating FGSCs from ovaries of neonatal mice. Notably, our FGSC isolation method could efficiently isolate on average 15 cell "strings" per ovary from mice at 1-3 days postpartum. FGSCs isolated from neonatal mice displayed the string-forming cell configuration at mitosis ( i.e. a "stringing" FGSC (sFGSC) phenotype) and a disperse phenotype in postnatal mice. We also found that sFGSCs undergo vigorous mitosis especially at 1-3 days postpartum. After cell division, the sFGSC membranes tended to be connected to form sFGSCs. Moreover, F-actin filaments exhibited a cell-cortex distribution in sFGSCs, and E-cadherin converged in cell-cell connection regions, resulting in the string-forming morphology. Our new method provides a platform for isolating FGSCs from the neonatal ovary, and our findings indicate that FGCSs exhibit string-forming features in neonatal mice. The sFGSCs represent a valuable resource for analysis of ovary function and an in vitro model for future clinical use to address ovarian dysfunction. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

Meta-analysis of expression of l(3)mbt tumor-associated germline genes supports the model that a soma-to-germline transition is a hallmark of human cancers.

Science.gov (United States)

Feichtinger, Julia; Larcombe, Lee; McFarlane, Ramsay J

2014-05-15

Evidence is starting to emerge indicating that tumorigenesis in metazoans involves a soma-to-germline transition, which may contribute to the acquisition of neoplastic characteristics. Here, we have meta-analyzed gene expression profiles of the human orthologs of Drosophila melanogaster germline genes that are ectopically expressed in l(3)mbt brain tumors using gene expression datasets derived from a large cohort of human tumors. We find these germline genes, some of which drive oncogenesis in D. melanogaster, are similarly ectopically activated in a wide range of human cancers. Some of these genes normally have expression restricted to the germline, making them of particular clinical interest. Importantly, these analyses provide additional support to the emerging model that proposes a soma-to-germline transition is a general hallmark of a wide range of human tumors. This has implications for our understanding of human oncogenesis and the development of new therapeutic and biomarker targets with clinical potential. © 2013 The Authors. Published by Wiley Periodicals, Inc. on behalf of UICC.

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

Science.gov (United States)

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.

Genotype Reconstruction of Paternity in European Lobsters (Homarus gammarus.

Directory of Open Access Journals (Sweden)

Charlie D Ellis

Full Text Available 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.

Multiple paternity in reptiles: patterns and processes.

Science.gov (United States)

Uller, Tobias; Olsson, Mats

2008-06-01

The evolution of female promiscuity poses an intriguing problem as benefits of mating with multiple males often have to arise via indirect, genetic, effects. Studies on birds have documented that multiple paternity is common in natural populations but strong evidence for selection via female benefits is lacking. In an attempt to evaluate the evidence more broadly, we review studies of multiple paternity in natural populations of all major groups of nonavian reptiles. Multiple paternity has been documented in all species investigated so far and commonly exists in over 50% of clutches, with particularly high levels in snakes and lizards. Marine turtles and lizards with prolonged pair-bonding have relatively low levels of multiple paternity but levels are nevertheless higher than in many vertebrates with parental care. There is no evidence that high levels of polyandry are driven by direct benefits to females and the evidence that multiple paternity arises from indirect genetic benefits is weak. Instead, we argue that the most parsimonious explanation for patterns of multiple paternity is that it represents the combined effect of mate-encounter frequency and conflict over mating rates between males and females driven by large male benefits and relatively small female costs, with only weak selection via indirect benefits. A crucial step for researchers is to move from correlative approaches to experimental tests of assumptions and predictions of theory under natural settings, using a combination of molecular techniques and behavioural observations.

The impact of paternity leave on fathers' future earnings.

Science.gov (United States)

Rege, Mari; Solli, Ingeborg F

2013-12-01

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

Selfish genetic elements favor the evolution of a distinction between soma and germline.

Science.gov (United States)

Johnson, Louise J

2008-08-01

Many multicellular organisms have evolved a dedicated germline. This can benefit the whole organism, but its advantages to genetic parasites have not been explored. Here I model the evolutionary success of a selfish element, such as a transposable element or endosymbiont, which is capable of creating or strengthening a germline-soma distinction in a primitively multicellular host, and find that it will always benefit the element to do so. Genes causing germline sequestration can therefore spread in a population even if germline sequestration is maladaptive for the host organism. Costly selfish elements are expected to survive only in sexual populations, so sexual species may experience an additional push toward germline-soma distinction, and hence toward cell differentiation and multicellularity.

The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect

Science.gov (United States)

Tiemann-Boege, Irene; Navidi, William; Grewal, Raji; Cohn, Dan; Eskenazi, Brenda; Wyrobek, Andrew J.; Arnheim, Norman

2002-01-01

The lifelong spermatogonial stem cell divisions unique to male germ cell production are thought to contribute to a higher mutation frequency in males. The fact that certain de novo human genetic conditions (e.g., achondroplasia) increase in incidence with the age of the father is consistent with this idea. Although it is assumed that the paternal age effect is the result of an increasing frequency of mutant sperm as a man grows older, no direct molecular measurement of the germ-line mutation frequency has been made to confirm this hypothesis. Using sperm DNA from donors of different ages, we determined the frequency of the nucleotide substitution in the fibroblast growth factor receptor 3 (FGFR3) gene that causes achondroplasia. Surprisingly, the magnitude of the increase in mutation frequency with age appears insufficient to explain why older fathers have a greater chance of having a child with this condition. A number of alternatives may explain this discrepancy, including selection for sperm that carry the mutation or an age-dependent increase in premutagenic lesions that remain unrepaired in sperm and are inefficiently detected by the PCR assay. PMID:12397172

Germline HVR-II mitochondrial polymorphisms associated with breast cancer in Tunisian women.

Science.gov (United States)

Yacoubi Loueslati, B; Troudi, W; Cherni, L; Rhomdhane, K B; Mota-Vieira, L

2010-08-31

A high incidence of somatic mtDNA polymorphisms has been reported in a wide variety of human cancers; some of them have been proposed as markers for the early detection of breast cancer. However, little attention has been paid to the potential of germline mitochondrial sequence variations as genetic risk factors for cancer. We performed a case-control study of 70 unrelated Tunisian women with breast cancer and 80 healthy age- and gender-matched blood donors, taking into account clinicopathological data, to evaluate germline polymorphism of mitochondrial HVR-II region as a genetic risk factor for breast cancer. Through direct sequencing, we detected 351 polymorphisms in controls and 248 variants in patients, with 47 and 39 segregating sites, respectively. In both groups, more than 50% of the polymorphisms were due to four variants: 315 ins C, 309 ins C, 263 A>G, and 73 A>G. The HVR-II sequences were also classified into haplotypes on the basis of the polymorphisms. Fifty-nine different haplotypes were found, 20 of them shared between patients and controls. Both groups had specific haplotypes, 18 in breast cancer patients and 21 in controls. Statistical analysis revealed a weak protective effect against breast cancer risk for two mitochondrial polymorphisms - 152 T>C (odds ratio (OR) = 0.33, 95% confidence interval (CI) = 0.12-0.91) and 263 A>G (OR = 0.17, 95%CI = 0.06-0.47). In contrast, an increased risk of breast cancer was detected for the 315+C haplotype (OR = 11.66, 95%CI = 1.44-252.23). We conclude that mitochondrial variants can affect breast cancer risk. More extensive studies, involving different types of cancer and patients with different genetic makeup, will be required to improve our understanding of the effects of germline mtDNA polymorphisms on carcinogenesis.

Germline mutation rates in mice following in utero exposure to diesel exhaust particles by maternal inhalation

DEFF Research Database (Denmark)

Ritz, Caitlin; Ruminski, Wojciech; Hougaard, Karin S.

2011-01-01

(PAPs) from industrial environments cause DNA damage and mutations in the sperm of adult male mice. Effects on the female and male germline during critical stages of development (in utero) are unknown. In mice, previous studies have shown that expanded simple tandem repeat (ESTR) loci exhibit high rates......The induction of inherited DNA sequence mutations arising in the germline (i.e., sperm or egg) of mice exposed in utero to diesel exhaust particles (DEPs) via maternal inhalation compared to unexposed controls was investigated in this study. Previous work has shown that particulate air pollutants...... of spontaneous mutation, making this endpoint a valuable tool for studying inherited mutation and genomic instability. In the present study, pregnant C57Bl/6 mice were exposed to 19mg/m3 DEP from gestational day 7 through 19, alongside air exposed controls. Male and female F1 offspring were raised to maturity...

Inclusive production of ρ0(770), f0(980) and f2(1270) mesons in νμ charged current interactions

International Nuclear Information System (INIS)

Astier, P.; Autiero, D.; Baldisseri, A.; Baldo-Ceolin, M.; Banner, M.; Bassompierre, G.; Benslama, K.; Besson, N.; Bird, I.; Blumenfeld, B.; Bobisut, F.; Bouchez, J.; Boyd, S.; Bueno, A.; Bunyatov, S.; Camilleri, L.; Cardini, A.; Cattaneo, P.W.; Cavasinni, V.; Cervera-Villanueva, A.; Collazuol, G.; Conforto, G.; Conta, C.; Contalbrigo, M.; Cousins, R.; Daniels, D.; Degaudenzi, H.; Del Prete, T.; De Santo, A.; Dignan, T.; Di Lella, L.; Couto e Silva, E. do; Dumarchez, J.; Ellis, M.; Fazio, T.; Feldman, G.J.; Ferrari, R.; Ferrere, D.; Flaminio, V.; Fraternali, M.; Gaillard, J.-M.; Gangler, E.; Geiser, A.; Geppert, D.; Gibin, D.; Gninenko, S.; Godley, A.; Gomez-Cadenas, J.-J.; Gosset, J.; Goessling, C.; Gouanere, M.; Grant, A.; Graziani, G.; Guglielmi, A.; Hagner, C.; Hernando, J.; Hubbard, D.; Hurst, P.; Hyett, N.; Iacopini, E.; Joseph, C.; Juget, F.; Kirsanov, M.; Klimov, O.; Kokkonen, J.; Kovzelev, A.; Krasnoperov, A.; Kuznetsov, V.; Lacaprara, S.; Lachaud, C.; Lakic, B.; Lanza, A.; LaRotonda, L.; Laveder, M.; Letessier-Selvon, A.; Levy, J.-M.; Linssen, L.; Ljubicic, A.; Long, J.; Lupi, A.; Marchionni, A.; Martelli, F.; Mechain, X.; Mendiburu, J.-P.; Meyer, J.-P.; Mezzetto, M.; Mishra, S.R.; Moorhead, G.F.; Naumov, D.; Nedelec, P.; Nefedov, Yu.; Nguyen-Mau, C.; Orestano, D.; Pastore, F.; Peak, L.S.; Pennacchio, E.; Pessard, H.; Petti, R.; Placci, A.; Polesello, G.; Pollmann, D.; Polyarush, A.; Popov, B.; Poulsen, C.; Rathouit, P.; Rico, J.; Roda, C.; Rubbia, A.; Salvatore, F.; Schahmaneche, K.; Schmidt, B.; Sevior, M.; Sillou, D.; Soler, F.J.P.; Sozzi, G.; Steele, D.; Stiegler, U.; Stipcevic, M.; Stolarczyk, Th.; Tareb-Reyes, M.; Taylor, G.N.; Tereshchenko, V.; Toropin, A.; Touchard, A.-M.; Tovey, S.N.; Tran, M.-T.; Tsesmelis, E.; Ulrichs, J.; Vacavant, L.; Valdata-Nappi, M.; Valuev, V.; Vannucci, F.; Varvell, K.E.; Veltri, M.; Vercesi, V.; Vidal-Sitjes, G.; Vieira, J.-M.; Vinogradova, T.; Weber, F.V.; Weisse, T.; Wilson, F.F.; Winton, L.J.; Yabsley, B.D.; Zaccone, H.; Zuber, K.; Zuccon, P.

2001-01-01

The inclusive production of the meson resonances ρ 0 (770), f 0 (980) and f 2 (1270) in neutrino-nucleus charged current interactions has been studied with the NOMAD detector exposed to the wide band neutrino beam generated by 450 GeV protons at the CERN SPS. For the first time the f 0 (980) meson is observed in neutrino interactions. The statistical significance of its observation is 6 standard deviations. The presence of f 2 (1270) in neutrino interactions is reliably established. The average multiplicity of these three resonances is measured as a function of several kinematic variables. The experimental results are compared to the multiplicities obtained from a simulation based on the Lund model. In addition, the average multiplicity of ρ 0 (770) in antineutrino-nucleus interactions is measured

fJ(2220) and hadronic anti Bs0 decays

International Nuclear Information System (INIS)

Hsiao, Y.K.; Geng, C.Q.

2015-01-01

We study the hadronic anti B s 0 decays based on the existence of the resonant state f J (2220). In particular,we are able to explain the unexpected large experimental result of B(anti B s 0 → J/ψp anti p) = (3.0 -1.1 +1.2 ± 0.52 ± 0.03) x 10 -6 measured recently by the LHCb collaboration due to the resonant contribution in anti B s 0 → J/ψf J (2220) with f J (2220) → p anti p, while it is estimated to be at most of order 10 -9 in terms of the OZI rule without the resonance. In addition, we find that B(anti B s 0 → D *0 (f J →)p anti p) = (4.70 ± 2.89) x 10 -7 , B(anti B s 0 → J/ψ(f J →)ππ) = (15.6 ± 15.2) x 10 -6 , and B(anti B s 0 → D *0 (f J →)ππ) = (24.5 ± 24.4) x 10 -7 , while B(anti B s 0 → J/ψ(f J →)K anti K) < 1.6 x 10 -5 and B(anti B s 0 → D *0 (f J →)K anti K) < 2.5 x 10 -6 . Moreover, we predict that the decay branching ratios of anti B s 0 → (J/ψ, D *0 )Λ anti Λ are (2.68 ± 1.23) x 10 -7 and (2.25 ± 0.80) x 10 -6 . Some of the predicted anti B s 0 decays are accessible to the experiments at the LHCb. (orig.)

Effect of BRCA germline mutations on breast cancer prognosis

Science.gov (United States)

Baretta, Zora; Mocellin, Simone; Goldin, Elena; Olopade, Olufunmilayo I.; Huo, Dezheng

2016-01-01

Abstract Background: The contribution of BRCA germline mutational status to breast cancer patients’ prognosis is unclear. We aimed to systematically review and perform meta-analysis of the available evidence of effects of BRCA germline mutations on multiple survival outcomes of breast cancer patients as a whole and in specific subgroups of interest, including those with triple negative breast cancer, those with Ashkenazi Jewish ancestry, and patients with stage I–III disease. Methods: Sixty studies met all inclusion criteria and were considered for this meta-analysis. These studies involved 105,220 breast cancer patients, whose 3588 (3.4%) were BRCA mutations carriers. The associations between BRCA genes mutational status and overall survival (OS), breast cancer-specific survival (BCSS), recurrence-free survival (RFS), and distant metastasis-free survival (DMFS) were evaluated using random-effect models. Results: BRCA1 mutation carriers have worse OS than BRCA-negative/sporadic cases (hazard ratio, HR 1.30, 95% CI: 1.11–1.52) and worse BCSS than sporadic/BRCA-negative cases among patients with stage I–III breast cancer (HR 1.45, 95% CI: 1.01–2.07). BRCA2 mutation carriers have worse BCSS than sporadic/BRCA-negative cases (HR 1.29, 95% CI: 1.03–1.62), although they have similar OS. Among triple negative breast cancer, BRCA1/2 mutations carriers had better OS than BRCA-negative counterpart (HR 0.49, 95% CI: 0.26–0.92). Among Ashkenazi Jewish women, BRCA1/2 mutations carriers presented higher risk of death from breast cancer (HR 1.44, 95% CI: 1.05–1.97) and of distant metastases (HR 1.82, 95% CI: 1.05–3.16) than sporadic/BRCA-negative patients. Conclusion: Our results support the evaluation of BRCA mutational status in patients with high risk of harboring BRCA germline mutations to better define the prognosis of breast cancer in these patients. PMID:27749552

File list: His.Adl.50.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

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

Energy Technology Data Exchange (ETDEWEB)

Vaeisaenen, M.L.; Haataja, R.; Leisti, J. [Oulu Univ. Hospital (Finland)

1996-09-01

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

Effect of time in the evaluation of F+20 and F0 diuretic renography

International Nuclear Information System (INIS)

Donoso, G.; Piepsz, A.; Ham, H.

2002-01-01

F0 diuretic renography starts gaining popularity especially because of the practical convenient of avoiding one intravenous injection. Using F0 however, the most adequate parameters for evaluating renal output are still to be determined. Aim: to evaluate which parameter of F0 and F+20 procedures gives rise to the best possible renal drainage. Methods: In this retrospective study we compared F0 and F20 quantitative parameters obtained in 36 clinically stable children, aged 10 days to 17 years, with unilateral (25) or bilateral (11)hydronephrosis, in whom both tests were performed. The mean time interval between the two tests was 17 months. F0 and F+20 Tc-99m MAG3 diuretic renography were carried out using the usual procedure. In all cases, a late image (PM) was acquired after micturition and after changing the position of the patient. The mean time at which this image was acquired was 80 min(SD : 33) for the F+20 test and 48 min(SD : 30) for the F0 test. Following parameters were calculated : Time to the maximum of the basic renogram (Tmax); normalized residual activity (NORA) and output efficiency (OE) at the end of the 20- min renogram, at the end of furosemide test (35 min) and on the post micturition image (NORA 20, NORA 35, NORA PM, OE 20, OE35 and OE PM). On the basis of all available parameters, each of the 47 hydronephrotic kidneys were classified either as 'good drainage' or as 'partial or bad drainage'. All parameters were then evaluated according to this reference. Conclusions: For both the F+20 and the F0 tests, the PM image had obviously a higher performance rate than all the other parameters, underlying the mandatory character of this acquisition. The higher performance of the PM image on F+20 is clearly related to the significantly different time at which the PM image was acquired, underlying the need of standardization of the acquisition time

File list: His.Adl.05.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

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Lifescience Database Archive (English)

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File list: Oth.Adl.20.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

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File list: His.Adl.10.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

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File list: His.Adl.20.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available His.Adl.20.AllAg.Germline_containing_young_adult ce10 Histone Adult Germline containing young adult...archive.biosciencedbc.jp/kyushu-u/ce10/assembled/His.Adl.20.AllAg.Germline_containing_young_adult.bed ...

File list: Oth.Adl.10.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

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File list: Oth.Adl.50.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available Oth.Adl.50.AllAg.Germline_containing_young_adult ce10 TFs and others Adult Germline containing young adult....jp/kyushu-u/ce10/assembled/Oth.Adl.50.AllAg.Germline_containing_young_adult.bed ...

The Role of DNA Methylation Changes in Radiation-Induced Transgenerational Genomic Instability and Bystander Effects in cranial irradiated Mice

Science.gov (United States)

Zhang, Meng; Sun, Yeqing; Gao, Yinglong; Zhang, Baodong

Heavy-ion radiation could lead to genome instability in the germline, and therefore to transgenerational genome and epigenome instability in offspring of exposed males. The exact mechanisms of radiation-induced genome instability in directly exposed and in bystander organ remain obscure, yet accumulating evidence points to the role of DNA methylation changes in genome instability development. The potential of localized body-part exposures to affect the germline and thus induce genome and epigenome changes in the progeny has not been studied. To investigate whether or not the paternal cranial irradiation can exert deleterious changes in the protected germline and the offsprings, we studied the alteration of DNA methylation in the shielded testes tissue. Here we report that the localized paternal cranial irradiation results in a significant altered DNA methylation in sperm cells and leads to a profound epigenetic dysregulation in the unexposed progeny conceived 3 months after paternal exposure. The possible molecular mechanisms and biological consequences of the observed changes are discussed. Keywords: Heavy-ion radiation; Transgenerational effect; Genomic Instability Bystander Effects; DNA methylation.

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Lifescience Database Archive (English)

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File list: Unc.Adl.20.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

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File list: Unc.Adl.50.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

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File list: Pol.Adl.50.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

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File list: Pol.Adl.05.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available Pol.Adl.05.AllAg.Germline_containing_young_adult ce10 RNA polymerase Adult Germline containing young adult... http://dbarchive.biosciencedbc.jp/kyushu-u/ce10/assembled/Pol.Adl.05.AllAg.Germline_containing_young_adult.bed ...

Consistent paternity skew through ontogeny in Peron's tree frog (Litoria peronii.

Directory of Open Access Journals (Sweden)

Craig D H Sherman

Full Text Available BACKGROUND: A large number of studies in postcopulatory sexual selection use paternity success as a proxy for fertilization success. However, selective mortality during embryonic development can lead to skews in paternity in situations of polyandry and sperm competition. Thus, when assessment of paternity fails to incorporate mortality skews during early ontogeny, this may interfere with correct interpretation of results and subsequent evolutionary inference. In a previous series of in vitro sperm competition experiments with amphibians (Litoria peronii, we showed skewed paternity patterns towards males more genetically similar to the female. METHODOLOGY/PRINCIPAL FINDINGS: Here we use in vitro fertilizations and sperm competition trials to test if this pattern of paternity of fully developed tadpoles reflects patterns of paternity at fertilization and if paternity skews changes during embryonic development. We show that there is no selective mortality through ontogeny and that patterns of paternity of hatched tadpoles reflects success of competing males in sperm competition at fertilization. CONCLUSIONS/SIGNIFICANCE: While this study shows that previous inferences of fertilization success from paternity data are valid for this species, rigorous testing of these assumptions is required to ensure that differential embryonic mortality does not confound estimations of true fertilization success.

Probing the germline-dependence of epigenetic inheritance using artificial insemination in mice

Science.gov (United States)

Bohacek, Johannes; von Werdt, Sarah; Mansuy, Isabelle M.

2016-01-01

Abstract We developed a simple, noninvasive artificial insemination technique to study epigenetic germline inheritance in mice. This technique avoids interfering factors introduced by superovulation, surgery, in vitro culture or mating that can confound the transmission of acquired epigenetic information through the germline. Using a stress model, we demonstrate that our method is suited to test the causal involvement of the male germline in transmitting acquired information from father to offspring. PMID:29492284

f{sub 0}(500), f{sub 0}(980), and a{sub 0}(980) production in the χ{sub c1} → ηπ{sup +}π{sup -} reaction

Energy Technology Data Exchange (ETDEWEB)

Liang, Wei-Hong [Guangxi Normal University, Department of Physics, Guilin (China); Xie, Ju-Jun [Chinese Academy of Sciences, Institute of Modern Physics, Lanzhou (China); Lanzhou University, Research Center for Hadron and CSR Physics, Institute of Modern Physics of CAS, Lanzhou (China); Oset, Eulogio [Chinese Academy of Sciences, Institute of Modern Physics, Lanzhou (China); Institutos de Investigacion de Paterna, Departamento de Fisica Teorica y IFIC, Centro Mixto Universidad de Valencia-CSIC, Valencia (Spain)

2016-12-15

We study the χ{sub c1} → ηπ{sup +}π{sup -} decay, paying attention to the production of f{sub 0}(500), f{sub 0}(980), and a{sub 0}(980) from the final state interaction of pairs of mesons that can lead to these three mesons in the final state, which is implemented using the chiral unitary approach. Very clean and strong signals are obtained for the a{sub 0}(980) excitation in the ηπ invariant mass distribution and for the f{sub 0}(500) in the π{sup +}π{sup -} mass distribution. A smaller, but also clear signal for the f{sub 0}(980) excitation is obtained. The results are contrasted with experimental data and the agreement found is good, providing yet one more test in support of the picture where these resonances are dynamically generated from the meson-meson interaction. (orig.)

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

Science.gov (United States)

Drerup, Johannes

2017-01-01

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

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

Science.gov (United States)

Klebanoff, Mark A

2008-01-01

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

The parental non-equivalence of imprinting control regions during mammalian development and evolution.

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Reiner Schulz

2010-11-01

Full Text Available In mammals, imprinted gene expression results from the sex-specific methylation of imprinted control regions (ICRs in the parental germlines. Imprinting is linked to therian reproduction, that is, the placenta and imprinting emerged at roughly the same time and potentially co-evolved. We assessed the transcriptome-wide and ontology effect of maternally versus paternally methylated ICRs at the developmental stage of setting of the chorioallantoic placenta in the mouse (8.5dpc, using two models of imprinting deficiency including completely imprint-free embryos. Paternal and maternal imprints have a similar quantitative impact on the embryonic transcriptome. However, transcriptional effects of maternal ICRs are qualitatively focused on the fetal-maternal interface, while paternal ICRs weakly affect non-convergent biological processes, with little consequence for viability at 8.5dpc. Moreover, genes regulated by maternal ICRs indirectly influence genes regulated by paternal ICRs, while the reverse is not observed. The functional dominance of maternal imprints over early embryonic development is potentially linked to selection pressures favoring methylation-dependent control of maternal over paternal ICRs. We previously hypothesized that the different methylation histories of ICRs in the maternal versus the paternal germlines may have put paternal ICRs under higher mutational pressure to lose CpGs by deamination. Using comparative genomics of 17 extant mammalian species, we show here that, while ICRs in general have been constrained to maintain more CpGs than non-imprinted sequences, the rate of CpG loss at paternal ICRs has indeed been higher than at maternal ICRs during evolution. In fact, maternal ICRs, which have the characteristics of CpG-rich promoters, have gained CpGs compared to non-imprinted CpG-rich promoters. Thus, the numerical and, during early embryonic development, functional dominance of maternal ICRs can be explained as the

The parental non-equivalence of imprinting control regions during mammalian development and evolution.

Science.gov (United States)

Schulz, Reiner; Proudhon, Charlotte; Bestor, Timothy H; Woodfine, Kathryn; Lin, Chyuan-Sheng; Lin, Shau-Ping; Prissette, Marine; Oakey, Rebecca J; Bourc'his, Déborah

2010-11-18

In mammals, imprinted gene expression results from the sex-specific methylation of imprinted control regions (ICRs) in the parental germlines. Imprinting is linked to therian reproduction, that is, the placenta and imprinting emerged at roughly the same time and potentially co-evolved. We assessed the transcriptome-wide and ontology effect of maternally versus paternally methylated ICRs at the developmental stage of setting of the chorioallantoic placenta in the mouse (8.5dpc), using two models of imprinting deficiency including completely imprint-free embryos. Paternal and maternal imprints have a similar quantitative impact on the embryonic transcriptome. However, transcriptional effects of maternal ICRs are qualitatively focused on the fetal-maternal interface, while paternal ICRs weakly affect non-convergent biological processes, with little consequence for viability at 8.5dpc. Moreover, genes regulated by maternal ICRs indirectly influence genes regulated by paternal ICRs, while the reverse is not observed. The functional dominance of maternal imprints over early embryonic development is potentially linked to selection pressures favoring methylation-dependent control of maternal over paternal ICRs. We previously hypothesized that the different methylation histories of ICRs in the maternal versus the paternal germlines may have put paternal ICRs under higher mutational pressure to lose CpGs by deamination. Using comparative genomics of 17 extant mammalian species, we show here that, while ICRs in general have been constrained to maintain more CpGs than non-imprinted sequences, the rate of CpG loss at paternal ICRs has indeed been higher than at maternal ICRs during evolution. In fact, maternal ICRs, which have the characteristics of CpG-rich promoters, have gained CpGs compared to non-imprinted CpG-rich promoters. Thus, the numerical and, during early embryonic development, functional dominance of maternal ICRs can be explained as the consequence of two

Paternal care and litter size coevolution in mammals.

Science.gov (United States)

Stockley, Paula; Hobson, Liane

2016-04-27

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

Maternal and paternal genomes differentially affect myofibre characteristics and muscle weights of bovine fetuses at midgestation.

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Ruidong Xiang

Full Text Available Postnatal myofibre characteristics and muscle mass are largely determined during fetal development and may be significantly affected by epigenetic parent-of-origin effects. However, data on such effects in prenatal muscle development that could help understand unexplained variation in postnatal muscle traits are lacking. In a bovine model we studied effects of distinct maternal and paternal genomes, fetal sex, and non-genetic maternal effects on fetal myofibre characteristics and muscle mass. Data from 73 fetuses (Day153, 54% term of four genetic groups with purebred and reciprocal cross Angus and Brahman genetics were analyzed using general linear models. Parental genomes explained the greatest proportion of variation in myofibre size of Musculus semitendinosus (80-96% and in absolute and relative weights of M. supraspinatus, M. longissimus dorsi, M. quadriceps femoris and M. semimembranosus (82-89% and 56-93%, respectively. Paternal genome in interaction with maternal genome (P<0.05 explained most genetic variation in cross sectional area (CSA of fast myotubes (68%, while maternal genome alone explained most genetic variation in CSA of fast myofibres (93%, P<0.01. Furthermore, maternal genome independently (M. semimembranosus, 88%, P<0.0001 or in combination (M. supraspinatus, 82%; M. longissimus dorsi, 93%; M. quadriceps femoris, 86% with nested maternal weight effect (5-6%, P<0.05, was the predominant source of variation for absolute muscle weights. Effects of paternal genome on muscle mass decreased from thoracic to pelvic limb and accounted for all (M. supraspinatus, 97%, P<0.0001 or most (M. longissimus dorsi, 69%, P<0.0001; M. quadriceps femoris, 54%, P<0.001 genetic variation in relative weights. An interaction between maternal and paternal genomes (P<0.01 and effects of maternal weight (P<0.05 on expression of H19, a master regulator of an imprinted gene network, and negative correlations between H19 expression and fetal muscle mass (P

Paternal identity impacts embryonic development for two species of freshwater fish

DEFF Research Database (Denmark)

Siddique, Mohammad Abdul Momin; Linhart, Otomar; Krejszeff, Sławomir

2017-01-01

then partition variation in embryonic phenotypic performance to maternal, paternal, and parental interactions using the Restricted Maximum Likelihood (REML) model. Results showed that paternal, maternal, and the paternal. ×. maternal interaction terms were highly significant for both species; clearly......Paternal, compared to maternal, contributions were believed to have only a limited influence on embryonic development and larval fitness traits in fishes. Therefore, the perspective of male influence on early life history traits has come under scrutiny. This study was conducted to determine...... demonstrating that certain family combinations were more compatible than others. Paternal effects explained 20.24% of the total variance, which was 2-fold higher than the maternal effects (10.73%) in Ide, while paternal effects explained 18.9% of the total variance, which was 15-fold higher than the maternal...

More on Gopakumar-Vafa formula: coefficients F0 and F1

International Nuclear Information System (INIS)

Dedushenko, M.

2015-01-01

In Type IIA compactified on a Calabi-Yau threefold, the genus zero and one terms of the Gopakumar-Vafa (GV) formula describe F-terms that are related to genus zero and one topological amplitudes. While for higher-genus terms F g ,g≥2, the contribution of a light hypermultiplet can be computed via a sum over Kaluza-Klein harmonics, as has been shown in a recent paper, for g≤1, the sum diverges and it is better to compute F 0 and F 1 directly in five-dimensional field theory. Such a computation is presented here.

Precise determination of the f0(500) and f0(980) parameters in dispersive analysis of the ππ data

International Nuclear Information System (INIS)

Kamiński, Robert; Garcia-Martin, R.; Pelaez, J.R.; Ruiz de Elvira, J.

2013-01-01

Use of the new and precise dispersive equations with imposed crossing symmetry condition to solve the long-standing puzzle in the parameters of the f 0 (500), as well as the f 0 (980) is presented. This puzzle is finally being settled thanks to analyzes carried out during the last years [J. Beringer et al. (Particle Data Group), Phys. Rev. D86, (2012) 010001]. In this report we show how our very recent dispersive data analysis allowed for a precise and model independent determination of the amplitudes for the S, P, D and F waves [R. Garcia-Martin, R. Kaminski, J. R. Pelaez, J. Ruiz de Elvira and F.J. Yndurain, Phys. Rev. D83, (2011) 074004; R. Garcia-Martin, R. Kamiński, J.R. Pelaez and J. Ruiz de Elvira, Phys. Rev. Lett. 107, (2011) 072001; R. Kamiński, Phys. Rev. D83, (2011) 076008]. Especially we present that the analytic continuation of once subtracted dispersion relations for the S 0 wave to the complex energy plane leads to very precise results for the f 0 (500) pole: √(s pole )=457 −13 +14 −i279 −7 +11 MeV and for the f 0 (980) pole: √(s pole )=996±7−i25 −6 +10 MeV. We also mention on first (or one of the first) practical application of presented dispersion relations in refitting and in significant improving of the ππ S-wave amplitudes below 1000 MeV

Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls.

Science.gov (United States)

Buckley, Alexandra R; Standish, Kristopher A; Bhutani, Kunal; Ideker, Trey; Lasken, Roger S; Carter, Hannah; Harismendy, Olivier; Schork, Nicholas J

2017-06-12

Cancer research to date has largely focused on somatically acquired genetic aberrations. In contrast, the degree to which germline, or inherited, variation contributes to tumorigenesis remains unclear, possibly due to a lack of accessible germline variant data. Here we called germline variants on 9618 cases from The Cancer Genome Atlas (TCGA) database representing 31 cancer types. We identified batch effects affecting loss of function (LOF) variant calls that can be traced back to differences in the way the sequence data were generated both within and across cancer types. Overall, LOF indel calls were more sensitive to technical artifacts than LOF Single Nucleotide Variant (SNV) calls. In particular, whole genome amplification of DNA prior to sequencing led to an artificially increased burden of LOF indel calls, which confounded association analyses relating germline variants to tumor type despite stringent indel filtering strategies. The samples affected by these technical artifacts include all acute myeloid leukemia and practically all ovarian cancer samples. We demonstrate how technical artifacts induced by whole genome amplification of DNA can lead to false positive germline-tumor type associations and suggest TCGA whole genome amplified samples be used with caution. This study draws attention to the need to be sensitive to problems associated with a lack of uniformity in data generation in TCGA data.

Maternal KIR in combination with paternal HLA-C2 regulate human birth weight.

Science.gov (United States)

Hiby, Susan E; Apps, Richard; Chazara, Olympe; Farrell, Lydia E; Magnus, Per; Trogstad, Lill; Gjessing, Håkon K; Carrington, Mary; Moffett, Ashley

2014-06-01

Human birth weight is subject to stabilizing selection; babies born too small or too large are less likely to survive. Particular combinations of maternal/fetal immune system genes are associated with pregnancies where the babies are ≤ 5th birth weight centile, specifically an inhibitory maternal KIR AA genotype with a paternally derived fetal HLA-C2 ligand. We have now analyzed maternal KIR and fetal HLA-C combinations at the opposite end of the birth weight spectrum. Mother/baby pairs (n = 1316) were genotyped for maternal KIR as well as fetal and maternal HLA-C. Presence of a maternal-activating KIR2DS1 gene was associated with increased birth weight in linear or logistic regression analyses of all pregnancies >5th centile (p = 0.005, n = 1316). Effect of KIR2DS1 was most significant in pregnancies where its ligand, HLA-C2, was paternally but not maternally inherited by a fetus (p = 0.005, odds ratio = 2.65). Thus, maternal KIR are more frequently inhibitory with small babies but activating with big babies. At both extremes of birth weight, the KIR associations occur when their HLA-C2 ligand is paternally inherited by a fetus. We conclude that the two polymorphic immune gene systems, KIR and HLA-C, contribute to successful reproduction by maintaining birth weight between two extremes with a clear role for paternal HLA.

File list: InP.Adl.50.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available InP.Adl.50.AllAg.Germline_containing_young_adult ce10 Input control Adult Germline containing young adult...p/kyushu-u/ce10/assembled/InP.Adl.50.AllAg.Germline_containing_young_adult.bed ...

Birth outcomes after preconception paternal exposure to methotrexate

DEFF Research Database (Denmark)

Winter, Rachel W; Larsen, Michael Due; Magnussen, Bjarne

2017-01-01

BACKGROUND: Methotrexate (MTX), a folic acid antagonist, is often prescribed for moderate to severe inflammatory related diseases. The safety of paternal MTX use prior to conception is unknown. This study, using the National Danish Registries, aimed to examine the association between paternal MTX...

Libertarian Paternalism Is Not an Oxymoron

OpenAIRE

Sunstein, Cass Robert

2003-01-01

The idea of libertarian paternalism might seem to be an oxymoron, but it is both possible and legitimate for private and public institutions to affect behavior while also respecting freedom of choice. Often people’s preferences are ill-formed, and their choices will inevitably be influenced by default rules, framing effects, and starting points. In these circumstances, a form of paternalism cannot be avoided. Equipped with an understanding of behavioral findings of bounded rationality and bou...

File list: ALL.Adl.20.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ALL.Adl.20.AllAg.Germline_containing_young_adult ce10 All antigens Adult Germline containing young adult...6563,SRX495065,SRX495061,SRX495102,SRX495062,SRX494887,SRX495066 http://dbarchive.biosciencedbc.jp/kyushu-u/ce10/assembled/ALL.Adl.20.AllAg.Germline_containing_young_adult.bed ...

File list: ALL.Adl.05.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ALL.Adl.05.AllAg.Germline_containing_young_adult ce10 All antigens Adult Germline containing young adult...4871,SRX494938,SRX495065,SRX495061,SRX494933,SRX495042,SRX495102 http://dbarchive.biosciencedbc.jp/kyushu-u/ce10/assembled/ALL.Adl.05.AllAg.Germline_containing_young_adult.bed ...

File list: ALL.Adl.10.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available ALL.Adl.10.AllAg.Germline_containing_young_adult ce10 All antigens Adult Germline containing young adult...4938,SRX466563,SRX495065,SRX495061,SRX494933,SRX495102,SRX494887 http://dbarchive.biosciencedbc.jp/kyushu-u/ce10/assembled/ALL.Adl.10.AllAg.Germline_containing_young_adult.bed ...

The making and breaking of paternity secrets in donor insemination.

Science.gov (United States)

Turney, Lyn

2010-07-01

This paper analyses the complex issues faced by regulators of the infertility treatment industry in response to the social and technological changes that heralded a new openness in knowledge about genetics, paternity and the concomitant need for donor offspring to know their genetic origins. The imperative for full information about their donor and biological father, who contributed to their creation and half of their genome, was an outcome unanticipated by the architects of the donor insemination programme. Genetic paternity testing realised the possibility of fixed and certain knowledge about paternity. This paper outlines medicine's role in the formation of normative families through the use of donor insemination. Extending information from an Australian study on the use of DNA paternity testing, it analyses what the social and scientific changes that have emerged and gained currency in the last several decades mean for the new 'openness' and the role of paternity testing in this context. It concludes with recommendations about how to deal with the verification of paternity in linking donor conceived adult children to their donor.

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

Science.gov (United States)

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 date...

Combined association of maternal and paternal family history of diabetes with plasma leptin and adiponectin in overweight Hispanic children.

Science.gov (United States)

Koebnick, C; Kelly, L A; Lane, C J; Roberts, C K; Shaibi, G Q; Toledo-Corral, C M; Davis, J N; Weigensberg, M J; Goran, M I

2008-09-01

To investigate the importance of a maternal and paternal family history of Type 2 diabetes and their combined association with plasma leptin and adiponectin levels in overweight Latino children with a family history of Type 2 diabetes (T2DM). This cross-sectional study investigated the combined association of a maternal and paternal family history of T2DM with leptin and adiponectin in 175 overweight Latino children (age 11.1 +/- 1.7 years). All subjects had a family history of T2DM. Plasma adiponectin and leptin levels, body fat measured by dual-energy X-ray absorptiometry, Tanner stage, age and insulin sensitivity were assessed. After adjustment for age, gestational diabetes, insulin sensitivity and body fat, a combined maternal and paternal family history of T2DM was associated with higher leptin concentrations (P = 0.004) compared with a maternal or paternal family history alone. This association was most pronounced at Tanner stage 1 (P for interaction family history x tanner stage = 0.022). The presence of a combined maternal and paternal family history of T2DM accounted for 4% (P = 0.003) of the variation in leptin concentrations. No such combined association was observed for adiponectin levels. Maternal and paternal family history of T2DM may have an additive impact on leptin, but not on adiponectin levels independent of adiposity and insulin sensitivity in overweight Latino children. This may contribute to a further clinically relevant deterioration of metabolic health in this population.

Theory of Patronized Goods. Liberal Evolution of Paternalism

Directory of Open Access Journals (Sweden)

Rubinstein Aleksandr Yakovlevich

2016-06-01

Full Text Available The neo-classical principles of rational behavior are considered in the context of the nature of paternalism as the basis of the Theory of patronized goods. The formation of society’s normative interests is discussed in concern of political aspects. The article illustrates the theoretical and the practical aspects of the concept of consociation democracy, providing liberalization of the institutions for making political and economic decisions. The results of analysis reveal a pattern of paternalism drifting towards institutional liberalization. Proposed a hypothesis explaining why the economic policy in modern Russia still remains somewhere between archaic and merit paternalism.

File list: NoD.Adl.05.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available NoD.Adl.05.AllAg.Germline_containing_young_adult ce10 No description Adult Germline containing young adult... http://dbarchive.biosciencedbc.jp/kyushu-u/ce10/assembled/NoD.Adl.05.AllAg.Germline_containing_young_adult.bed ...

File list: NoD.Adl.10.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available NoD.Adl.10.AllAg.Germline_containing_young_adult ce10 No description Adult Germline containing young adult... http://dbarchive.biosciencedbc.jp/kyushu-u/ce10/assembled/NoD.Adl.10.AllAg.Germline_containing_young_adult.bed ...

File list: NoD.Adl.20.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available NoD.Adl.20.AllAg.Germline_containing_young_adult ce10 No description Adult Germline containing young adult... http://dbarchive.biosciencedbc.jp/kyushu-u/ce10/assembled/NoD.Adl.20.AllAg.Germline_containing_young_adult.bed ...

File list: NoD.Adl.50.AllAg.Germline_containing_young_adult [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available NoD.Adl.50.AllAg.Germline_containing_young_adult ce10 No description Adult Germline containing young adult... http://dbarchive.biosciencedbc.jp/kyushu-u/ce10/assembled/NoD.Adl.50.AllAg.Germline_containing_young_adult.bed ...

Who wants paternalism?

DEFF Research Database (Denmark)

Pedersen, Sofie Kragh; Koch, Alexander Karl; Nafziger, Julia

these problems, or because people with good self-control want those who lack it to change their behaviors. We find no evidence linking self-control to attitudes towards weak forms of paternalism (e.g. nudges or information about health consequences). But respondents with good selfcontrol are significantly more...

Germline progenitors escape the widespread phenomenon of homolog pairing during Drosophila development.

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Eric F Joyce

Full Text Available Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, which supports organismal-wide pairing throughout development. Discovered over a century ago, such extensive pairing has led to the perception that germline pairing in the adult gonad is an extension of the pairing established during embryogenesis and, therefore, differs from the mechanism utilized in most species to initiate pairing specifically in the germline. Here, we show that, contrary to long-standing assumptions, Drosophila meiotic pairing in the gonad is not an extension of pairing established during embryogenesis. Instead, we find that homologous chromosomes are unpaired in primordial germ cells from the moment the germline can be distinguished from the soma in the embryo and remain unpaired even in the germline stem cells of the adult gonad. We further establish that pairing originates immediately after the stem cell stage. This pairing occurs well before the initiation of meiosis and, strikingly, continues through the several mitotic divisions preceding meiosis. These discoveries indicate that the spatial organization of the Drosophila genome differs between the germline and the soma from the earliest moments of development and thus argue that homolog pairing in the germline is an active process as versus a passive continuation of pairing established during embryogenesis.

Exploration of the Germline Genome of the Ciliate Chilodonella uncinata through Single-Cell Omics (Transcriptomics and Genomics

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Xyrus X. Maurer-Alcalá

2018-01-01

Full Text Available Separate germline and somatic genomes are found in numerous lineages across the eukaryotic tree of life, often separated into distinct tissues (e.g., in plants, animals, and fungi or distinct nuclei sharing a common cytoplasm (e.g., in ciliates and some foraminifera. In ciliates, germline-limited (i.e., micronuclear-specific DNA is eliminated during the development of a new somatic (i.e., macronuclear genome in a process that is tightly linked to large-scale genome rearrangements, such as deletions and reordering of protein-coding sequences. Most studies of germline genome architecture in ciliates have focused on the model ciliates Oxytricha trifallax, Paramecium tetraurelia, and Tetrahymena thermophila, for which the complete germline genome sequences are known. Outside of these model taxa, only a few dozen germline loci have been characterized from a limited number of cultivable species, which is likely due to difficulties in obtaining sufficient quantities of “purified” germline DNA in these taxa. Combining single-cell transcriptomics and genomics, we have overcome these limitations and provide the first insights into the structure of the germline genome of the ciliate Chilodonella uncinata, a member of the understudied class Phyllopharyngea. Our analyses reveal the following: (i large gene families contain a disproportionate number of genes from scrambled germline loci; (ii germline-soma boundaries in the germline genome are demarcated by substantial shifts in GC content; (iii single-cell omics techniques provide large-scale quality germline genome data with limited effort, at least for ciliates with extensively fragmented somatic genomes. Our approach provides an efficient means to understand better the evolution of genome rearrangements between germline and soma in ciliates.

The effects of maternal irradiation during adulthood on mutation induction and transgenerational instability in mice

International Nuclear Information System (INIS)

Abouzeid Ali, Hamdy E.; Barber, Ruth C.; Dubrova, Yuri E.

2012-01-01

The long-term genetic effects of maternal irradiation remain poorly understood. To establish the effects of radiation exposure on mutation induction in the germline of directly exposed females and the possibility of transgenerational effects in their non-exposed offspring, adult female BALB/c and CBA/Ca mice were given 1 Gy of acute X-rays and mated with control males. The frequency of mutation at expanded simple tandem repeat (ESTR) loci in the germline of directly exposed females did not differ from that of controls. Using a single-molecule PCR approach, ESTR mutation frequency was also established for both germline and somatic tissues in the first-generation offspring of irradiated parents. While the frequency of ESTR mutation in the offspring of irradiated males was significantly elevated, maternal irradiation did not affect stability in their F 1 offspring. Considering these data and the results of our previous study, we propose that, in sharp contrast to paternal exposure to ionising radiation, the transgenerational effects of maternal high-dose acute irradiation are likely to be negligible.

The perfect host: a mouse host embryo facilitating more efficient germ line transmission of genetically modified embryonic stem cells.

Directory of Open Access Journals (Sweden)

Robert A Taft

Full Text Available There is a continual need to improve efficiency in creating precise genetic modifications in mice using embryonic stem cells (ESCs. We describe a novel approach resulting in 100% germline transmission from competent injected ESCs. We developed an F1 mouse host embryo (Perfect Host, PH that selectively ablates its own germ cells via tissue-specific induction of diphtheria toxin. This approach allows competent microinjected ESCs to fully dominate the germline, eliminating competition for this critical niche in the developing and adult animal. This is in contrast to conventional methods, where competition from host germ cells results in offspring derived from host cells and ESCs, necessitating extensive breeding of chimeras and genotyping to identify germline. The germline transmission process is also complicated by variability in the actual number of ESCs that colonize the germline niche and the proportion that are germline competent. To validate the PH approach we used ESC lines derived from 129 F1, BALB/cByJ, and BTBR backgrounds as well as an iPS line. Resulting chimeric males produced 194 offspring, all paternally derived from the introduced stem cells, with no offspring being derived from the host genome. We further tested this approach using eleven genetically modified C57BL/6N ESC lines (International Knockout Mouse Consortium. ESC germline transmission was observed in 9/11 (82% lines using PH blastocysts, compared to 6/11 (55% when conventional host blastocysts were used. Furthermore, less than 35% (83/240 of mice born in the first litters from conventional chimeras were confirmed to be of ESC-origin. By comparison, 100% (137/137 of the first litter offspring of PH chimeras were confirmed as ESC-derived. Together, these data demonstrate that the PH approach increases the probability of germline transmission and speeds the generation of ESC derived animals from chimeras. Collectively, this approach reduces the time and costs inherent in the

Factors Associated with Perceived Paternal Involvement in Childrearing.

Science.gov (United States)

Sanderson, Susan; Thompson, Vetta L. Sanders

2002-01-01

Surveyed African American and white fathers living with their young children and the children's mothers regarding variables associated with perceived paternal involvement in child care. Results indicated that ethnicity, gender role orientation, and perceived skill at child care related to higher levels of perceived paternal engagement in and…

Detection of induced male germline mutation: Correlations and comparisons between traditional germline mutation assays, transgenic rodent assays and expanded simple tandem repeat instability assays

Energy Technology Data Exchange (ETDEWEB)

Singer, Timothy M. [Mutagenesis Section, Environmental and Occupational Toxicology Division, Safe Environments Programme, 0803A, Health Canada, Ottawa, Ont., K1A 0K9 (Canada); Department of Biology, Carleton University, 1125 Colonel By Drive, Ottawa, Ont., K1S 5B6 (Canada); Lambert, Iain B. [Department of Biology, Carleton University, 1125 Colonel By Drive, Ottawa, Ont., K1S 5B6 (Canada); Williams, Andrew [Biostatistics and Epidemiology Division, Safe Environments Programme, 6604B, Health Canada, Ottawa, Ont., K1A 0K9 (Canada); Douglas, George R. [Mutagenesis Section, Environmental and Occupational Toxicology Division, Safe Environments Programme, 0803A, Health Canada, Ottawa, Ont., K1A 0K9 (Canada); Yauk, Carole L. [Mutagenesis Section, Environmental and Occupational Toxicology Division, Safe Environments Programme, 0803A, Health Canada, Ottawa, Ont., K1A 0K9 (Canada)]. E-mail: carole_yauk@hc-sc.gc.ca

2006-06-25

Several rodent assays are capable of monitoring germline mutation. These include traditional assays, such as the dominant lethal (DL) assay, the morphological specific locus (SL) test and the heritable translocation (HT) assay, and two assays that have been developed more recently-the expanded simple tandem repeat (ESTR) and transgenic rodent (TGR) mutation assays. In this paper, we have compiled the limited amount of experimental data that are currently available to make conclusions regarding the comparative ability of the more recently developed assays to detect germline mutations induced by chemical and radiological agents. The data suggest that ESTR and TGR assays are generally comparable with SL in detecting germline mutagenicity induced by alkylating agents and radiation, though TGR offered less sensitivity than ESTR in some cases. The DL and HT assays detect clastogenic events and are most susceptible to mutations arising in post-spermatogonial cells, and they may not provide the best comparisons with TGR and ESTR instability. The measurement of induced ESTR instability represents a relatively sensitive method of identifying agents causing germline mutation in rodents, and may also be useful for bio-monitoring exposed individuals in the human population. Any future use of the TGR and ESTR germline mutation assays in a regulatory testing context will entail more robust and extensive characterization of assay performance. This will require substantially more data, including experiments measuring multiple endpoints, a greatly expanded database of chemical agents and a focus on characterizing stage-specific activity of mutagens in these assays, preferably by sampling epididymal sperm exposed at defined pre-meiotic, meiotic and post-meiotic stages of development.

Detection of induced male germline mutation: Correlations and comparisons between traditional germline mutation assays, transgenic rodent assays and expanded simple tandem repeat instability assays

International Nuclear Information System (INIS)

Singer, Timothy M.; Lambert, Iain B.; Williams, Andrew; Douglas, George R.; Yauk, Carole L.

2006-01-01

Several rodent assays are capable of monitoring germline mutation. These include traditional assays, such as the dominant lethal (DL) assay, the morphological specific locus (SL) test and the heritable translocation (HT) assay, and two assays that have been developed more recently-the expanded simple tandem repeat (ESTR) and transgenic rodent (TGR) mutation assays. In this paper, we have compiled the limited amount of experimental data that are currently available to make conclusions regarding the comparative ability of the more recently developed assays to detect germline mutations induced by chemical and radiological agents. The data suggest that ESTR and TGR assays are generally comparable with SL in detecting germline mutagenicity induced by alkylating agents and radiation, though TGR offered less sensitivity than ESTR in some cases. The DL and HT assays detect clastogenic events and are most susceptible to mutations arising in post-spermatogonial cells, and they may not provide the best comparisons with TGR and ESTR instability. The measurement of induced ESTR instability represents a relatively sensitive method of identifying agents causing germline mutation in rodents, and may also be useful for bio-monitoring exposed individuals in the human population. Any future use of the TGR and ESTR germline mutation assays in a regulatory testing context will entail more robust and extensive characterization of assay performance. This will require substantially more data, including experiments measuring multiple endpoints, a greatly expanded database of chemical agents and a focus on characterizing stage-specific activity of mutagens in these assays, preferably by sampling epididymal sperm exposed at defined pre-meiotic, meiotic and post-meiotic stages of development

Human Germline Genome Editing

OpenAIRE

Ormond, Kelly E.; Mortlock, Douglas P.; Scholes, Derek T.; Bombard, Yvonne; Brody, Lawrence C.; Faucett, W. Andrew; Garrison, Nanibaa’ A.; Hercher, Laura; Isasi, Rosario; Middleton, Anna; Musunuru, Kiran; Shriner, Daniel; Virani, Alice; Young, Caroline E.

2017-01-01

With CRISPR/Cas9 and other genome-editing technologies, successful somatic and germline genome editing are becoming feasible. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in March 2017. The workgroup included representatives from the UK Association of Genetic Nurses and Counsellors, Canadian Association of Genetic Counsellors, International Genetic Epidemiology Society, and US National Society of Gen...

C. elegans germline-deficient mutants respond to pathogen infection using shared and distinct mechanisms.

Directory of Open Access Journals (Sweden)

Michael TeKippe

2010-07-01

Full Text Available Reproduction extracts a cost in resources that organisms are then unable to utilize to deal with a multitude of environmental stressors. In the nematode C. elegans, development of the germline shortens the lifespan of the animal and increases its susceptibility to microbial pathogens. Prior studies have demonstrated germline-deficient nematodes to have increased resistance to gram negative bacteria. We show that germline-deficient strains display increased resistance across a broad range of pathogens including gram positive and gram negative bacteria, and the fungal pathogen Cryptococcus neoformans. Furthermore, we show that the FOXO transcription factor DAF-16, which regulates longevity and immunity in C. elegans, appears to be crucial for maintaining longevity in both wild-type and germline-deficient backgrounds. Our studies indicate that germline-deficient mutants glp-1 and glp-4 respond to pathogen infection using common and different mechanisms that involve the activation of DAF-16.

[Effect of paternity leave on maternal postpartum depression].

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

2012-06-01

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

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Wnt6 maintains anterior escort cells as an integral component of the germline stem cell niche.

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Wang, Xiaoxi; Page-McCaw, Andrea

2018-02-07

Stem cells reside in a niche, a local environment whose cellular and molecular complexity is still being elucidated. In Drosophila ovaries, germline stem cells depend on cap cells for self-renewing signals and physical attachment. Germline stem cells also contact the anterior escort cells, and here we report that anterior escort cells are absolutely required for germline stem cell maintenance. When escort cells die from impaired Wnt signaling or hid expression, the loss of anterior escort cells causes loss of germline stem cells. Anterior escort cells function as an integral niche component by promoting DE-cadherin anchorage and by transiently expressing the Dpp ligand to promote full-strength BMP signaling in germline stem cells. Anterior escort cells are maintained by Wnt6 ligands produced by cap cells; without Wnt6 signaling, anterior escort cells die leaving vacancies in the niche, leading to loss of germline stem cells. Our data identify anterior escort cells as constituents of the germline stem cell niche, maintained by a cap cell-produced Wnt6 survival signal. © 2018. Published by The Company of Biologists Ltd.

Qualitative analysis of ionospheric disorders in Solok earthquake (March 6, 2007) viewed from anomalous critical frequency of layer F (f0F2) and genesis spread F

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Pujiastuti, D.; Daniati, S.; Taufiqurrahman, E.; Mustafa, B.; Ednofri

2018-03-01

A qualitative analysis has been conducted by comparing the critical frequency anomalies of layer F (f0F2) and Spread F events to see the correlation with seismic activity before the Solok earthquake (March 6, 2007) in West Sumatra. The ionospherics data used was taken using the FMCW ionosonde at LAPAN SPD Kototabang, Palupuah, West Sumatra. The process of ionogramme scaling is done first to get the daily value of f0F2. The value of f0F2 is then compared with its monthly median to see the daily variations that appear. Anomalies of f0F2 and Spread F events were observed from February 20, 2007 to March 6, 2007. The presence of f0F2 anomalies was the negative deviation and the presence of Spread F before earthquake events were recommended as Solok earthquake precursors as they occurred when geomagneticsics and solar activities were normal.

Design and Evaluation of the Psychometric Properties of a Paternal Adaptation Questionnaire.

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Eskandari, Narges; Simbar, Masoumeh; Vadadhir, AbouAli; Baghestani, Ahmad Reza

2016-07-25

The present study aimed to design and evaluate the psychometric properties of the Paternal Adaptation Questionnaire (PAQ). The study was a mixed (qualitative and quantitative) sequential exploratory study. In the qualitative phase, a preliminary questionnaire with 210 items emerged from in-depth interviews with 17 fathers and 15 key informants. In the quantitative phase, psychometric properties of the PAQ were assessed. Considering cutoff points as 1.5 for item impact, 0.49 for content validity ratio (CVR), and 0.7 for content validity index (CVI), items of the questionnaire were reduced from 210 to 132. Assessment of the content validity of the questionnaire demonstrated S-CVR = 0.68 and S-CVI = 0.92. Exploratory factor analysis resulted in the development of a PAQ with 38 items classified under five factors (ability in performing the roles and responsibilities; perceiving the parental development; stabilization in paternal position; spiritual stability and internal satisfaction; and challenges and concerns), which explained 52.19% of cumulative variance. Measurement of internal consistency reported a Cronbach's α of .89 for PAQ (.61-.86 for subscales), and stability assessment of the PAQ through the test-retest demonstrated Spearman's correlation coefficients and intraclass correlation coefficient of .96 (.81-.97 for subscales). It was identified that the PAQ is a valid and reliable instrument that could be used to assess fatherhood adaptation with the paternal roles and fathers' needs, as well as to design appropriate interventions and to evaluate their effectiveness. © The Author(s) 2016.

Superconducting fluctuation effect in CaFe0.88Co0.12AsF

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Xiao, H.; Gao, B.; Ma, Y. H.; Li, X. J.; Mu, G.; Hu, T.

2016-11-01

Out-of-plane angular dependent torque measurements were performed on CaFe0.88Co0.12AsF single crystals. Superconducting fluctuations, featured by magnetic field enhanced and exponential temperature dependent diamagnetism, are observed above the superconducting transition temperature T c, which is similar to that of cuprate superconductors, but less pronounced. In addition, the ratio of T c versus superfluid density follows well the Uemura line of high-T c cuprates, which suggests the exotic nature of the superconductivity in CaFe0.88Co0.12AsF.

SCHIZOPHRENIA AND BIRTHPLACE OF PATERNAL AND MATERNAL GRANDFATHER IN THE JERUSALEM PERINATAL COHORT PROSPECTIVE STUDY

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Harlap, S; Perrin, M C; Deutsch, L; Kleinhaus, K; Fennig, S; Nahon, D; Teitelbaum, A; Friedlander, Y; Malaspina, D

2009-01-01

Some forms of epigenetic abnormalities transmitted to offspring are manifest in differences in disease incidence that depend on parent-of-origin. To explore whether such phenomena might operate in schizophrenia spectrum disorders, we estimated the relative incidence of these conditions in relation to parent-of-origin by considering the two grandfathers' countries of birth. In a prospective cohort of 88,829 offspring, born in Jerusalem in 1964–76 we identified 637 cases through Israel's psychiatric registry. Relative risks (RR) were estimated for paternal and maternal grandfathers' countries of birth using proportional hazards methods, controlling for parents' ages, low social class and duration of marriage. After adjusting for multiple observations, we found no significant differences between descendants of maternal or paternal grandfathers born in Iraq, Iran, Turkey, Syria, Yemen, Morocco, Algeria, Tunisia, Libya/Egypt, Poland, USSR, Czechoslovakia, Germany or the USA. Those with paternal grandfathers from Romania (RR=1.9, 95% CI=1.3–2.8) or Hungary (1.6, 1.0–2.6) showed an increased incidence; however, those with maternal grandfathers from these countries experienced reduced incidence (RR=0.5, 0.3–0.8 and 0.4, 0.2–0.8). In post-hoc analyses we found that results were similar whether the comparison groups were restricted to descendants of other Europeans or included those from Western Asia and North Africa; and effects of paternal grandfathers from Romania/Hungary were more pronounced in females, while effects of maternal grandfathers from these countries were similar in males and females. These post-hoc “hypothesis-generating” findings lead one to question whether some families with ancestors in Romania or Hungary might carry a variant or mutation at a parentally imprinted locus that is altering susceptibility to schizophrenia. Such a locus, if it exists, might involve the X chromosome. PMID:19361958

Schizophrenia and birthplace of paternal and maternal grandfather in the Jerusalem perinatal cohort prospective study.

Science.gov (United States)

Harlap, S; Perrin, M C; Deutsch, L; Kleinhaus, K; Fennig, S; Nahon, D; Teitelbaum, A; Friedlander, Y; Malaspina, D

2009-06-01

Some forms of epigenetic abnormalities transmitted to offspring are manifested in differences in disease incidence that depend on parent-of-origin. To explore whether such phenomena might operate in schizophrenia spectrum disorders, we estimated the relative incidence of these conditions in relation to parent-of-origin by considering the two grandfathers' countries of birth. In a prospective cohort of 88,829 offspring, born in Jerusalem in 1964-76 we identified 637 cases through Israel's psychiatric registry. Relative risks (RR) were estimated for paternal and maternal grandfathers' countries of birth using proportional hazards methods, controlling for parents' ages, low social class and duration of marriage. After adjusting for multiple observations, we found no significant differences between descendants of maternal or paternal grandfathers born in Iraq, Iran, Turkey, Syria, Yemen, Morocco, Algeria, Tunisia, Libya/Egypt, Poland, USSR, Czechoslovakia, Germany or the USA. Those with paternal grandfathers from Romania (RR=1.9, 95% CI=1.3-2.8) or Hungary (1.6, 1.0-2.6) showed an increased incidence; however, those with maternal grandfathers from these countries experienced reduced incidence (RR=0.5, 0.3-0.8 and 0.4, 0.2-0.8). In post-hoc analyses we found that results were similar whether the comparison groups were restricted to descendants of other Europeans or included those from Western Asia and North Africa; and effects of paternal grandfathers from Romania/Hungary were more pronounced in females, while effects of maternal grandfathers from these countries were similar in males and females. These post-hoc "hypothesis-generating" findings lead one to question whether some families with ancestors in Romania or Hungary might carry a variant or mutation at a parentally imprinted locus that is altering susceptibility to schizophrenia. Such a locus, if it exists, might involve the X chromosome.

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

Science.gov (United States)

Isganaitis, Elvira; Suehiro, Harumi; Cardona, Connie

2017-02-01

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

Growth of congruently melting Ca0.59Sr0.41F2 crystals and study of their properties

Science.gov (United States)

Karimov, D. N.; Komar'kova, O. N.; Sorokin, N. I.; Bezhanov, V. A.; Chernov, S. P.; Popov, P. A.; Sobolev, B. P.

2010-05-01

Homogeneous crystals of Ca0.59Sr0.41F2 alloy (sp. gr., Fm bar 3 m, a = 0.56057 nm), corresponding to the point of minimum in the melting curve in the CaF2-SrF2 phase diagram, have been grown by the vertical Bridgman method. The optical, mechanical, electrical, and thermophysical properties of Ca0.59Sr0.41F2 and MF2 crystals ( M = Ca, Sr) have been studied and comparatively analyzed. Ca0.59Sr0.41F2 crystals are transparent in the range of 0.133-11.5 μm, have refractive index n D = 1.436, microhardness H μ = 2.63 ± 0.10 GPa, ion conductivity σ = 5 × 10-5 S/cm at 825 K, and thermal conductivity k = 4.0 W m-1 K-1 at 300 K. It is shown that the optical properties of Ca0.59Sr0.41F2 crystals are intermediate between those of CaF2 and SrF2, whereas their mechanical and electrical characteristics are better than the latter compounds.

The effect of paternal factors on perinatal and paediatric outcomes

DEFF Research Database (Denmark)

Oldereid, Nan B; Wennerholm, Ulla-Britt; Pinborg, Anja

2018-01-01

BACKGROUND: Maternal factors, including increasing childbearing age and various life-style factors, are associated with poorer short- and long-term outcomes for children, whereas knowledge of paternal parameters is limited. Recently, increasing paternal age has been associated with adverse obstet...... IMPLICATIONS: Although the increased risks of adverse outcome in offspring associated with paternal factors and identified in this report represent serious health effects, the magnitude of these effects seems modest....

ALIX and ESCRT-III coordinately control cytokinetic abscission during germline stem cell division in vivo.

Directory of Open Access Journals (Sweden)

Åsmund H Eikenes

2015-01-01

Full Text Available Abscission is the final step of cytokinesis that involves the cleavage of the intercellular bridge connecting the two daughter cells. Recent studies have given novel insight into the spatiotemporal regulation and molecular mechanisms controlling abscission in cultured yeast and human cells. The mechanisms of abscission in living metazoan tissues are however not well understood. Here we show that ALIX and the ESCRT-III component Shrub are required for completion of abscission during Drosophila female germline stem cell (fGSC division. Loss of ALIX or Shrub function in fGSCs leads to delayed abscission and the consequent formation of stem cysts in which chains of daughter cells remain interconnected to the fGSC via midbody rings and fusome. We demonstrate that ALIX and Shrub interact and that they co-localize at midbody rings and midbodies during cytokinetic abscission in fGSCs. Mechanistically, we show that the direct interaction between ALIX and Shrub is required to ensure cytokinesis completion with normal kinetics in fGSCs. We conclude that ALIX and ESCRT-III coordinately control abscission in Drosophila fGSCs and that their complex formation is required for accurate abscission timing in GSCs in vivo.

Noninvasive prenatal paternity testing (NIPAT) through maternal plasma DNA sequencing

DEFF Research Database (Denmark)

Jiang, Haojun; Xie, Yifan; Li, Xuchao

2016-01-01

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

Cell lineage analysis of the mammalian female germline.

Directory of Open Access Journals (Sweden)

Yitzhak Reizel

Full Text Available Fundamental aspects of embryonic and post-natal development, including maintenance of the mammalian female germline, are largely unknown. Here we employ a retrospective, phylogenetic-based method for reconstructing cell lineage trees utilizing somatic mutations accumulated in microsatellites, to study female germline dynamics in mice. Reconstructed cell lineage trees can be used to estimate lineage relationships between different cell types, as well as cell depth (number of cell divisions since the zygote. We show that, in the reconstructed mouse cell lineage trees, oocytes form clusters that are separate from hematopoietic and mesenchymal stem cells, both in young and old mice, indicating that these populations belong to distinct lineages. Furthermore, while cumulus cells sampled from different ovarian follicles are distinctly clustered on the reconstructed trees, oocytes from the left and right ovaries are not, suggesting a mixing of their progenitor pools. We also observed an increase in oocyte depth with mouse age, which can be explained either by depth-guided selection of oocytes for ovulation or by post-natal renewal. Overall, our study sheds light on substantial novel aspects of female germline preservation and development.

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

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Romirowsky, Abigail Mintz; Chronis-Tuscano, Andrea

2013-01-01

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

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

Science.gov (United States)

Romirowsky, A M; Chronis-Tuscano, A

2014-09-01

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

Paternal influences on adolescent sexual risk behaviors: a structured literature review.

Science.gov (United States)

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

2012-11-01

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

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

Science.gov (United States)

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

2012-01-01

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

Paternal programming of offspring cardiometabolic diseases in later life

Science.gov (United States)

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

2016-01-01

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

Germline Polymorphisms of the VEGF Pathway Predict Recurrence in Nonadvanced Differentiated Thyroid Cancer.

Science.gov (United States)

Marotta, Vincenzo; Sciammarella, Concetta; Capasso, Mario; Testori, Alessandro; Pivonello, Claudia; Chiofalo, Maria Grazia; Gambardella, Claudio; Grasso, Marica; Antonino, Antonio; Annunziata, Annamaria; Macchia, Paolo Emidio; Pivonello, Rosario; Santini, Luigi; Botti, Gerardo; Losito, Simona; Pezzullo, Luciano; Colao, Annamaria; Faggiano, Antongiulio

2017-02-01

Tumor angiogenesis is determined by host genetic background rather than environment. Germline single nucleotide polymorphisms (SNPs) of the vascular endothelial growth factor (VEGF) pathway have demonstrated prognostic value in different tumors. Our main objective was to test the prognostic value of germline SNPs of the VEGF pathway in nonadvanced differentiated thyroid cancer (DTC). Secondarily, we sought to correlate analyzed SNPs with microvessel density (MVD). Multicenter, retrospective, observational study. Four referral centers. Blood samples were obtained from consecutive DTC patients. Genotyping was performed according to the TaqMan protocol, including 4 VEGF-A (-2578C>A, -460T>C, +405G>C, and +936C>T) and 2 VEGFR-2 (+1192 C>T and +1719 T>A) SNPs. MVD was estimated by means of CD34 staining. Rate of recurrent structural disease/disease-free survival (DFS). Difference in MVD between tumors from patients with different genotype. Two hundred four patients with stage I-II DTC (mean follow-up, 73 ± 64 months) and 240 patients with low- to intermediate-risk DTC (mean follow-up, 70 ± 60 months) were enrolled. Two "risk" genotypes were identified by combining VEGF-A SNPs -2578 C>A, -460 T>C, and +405 G>C. The ACG homozygous genotype was protective in both stage I-II (odds ratio [OR], 0.08; 95% confidence interval [CI], 0.01 to 1.43; P = 0.018) and low- to intermediate-risk (OR, 0.14; 95% CI, 0.01 to 1.13; P = 0.035) patients. The CTG homozygous genotype was significantly associated with recurrence in stage I-II (OR, 5.47; 95% CI, 1.15 to 26.04; P = 0.018) and was slightly deleterious in low- to intermediate-risk (OR, 3.39; 95% CI, 0.8 to 14.33; P = 0.079) patients. MVD of primary tumors from patients harboring a protective genotype was significantly lower (median MVD, 76.5 ± 12.7 and 86.7 ± 27.9, respectively; P = 0.024). Analysis of germline VEGF-A SNPs could empower a prognostic approach to DTC. Copyright © 2017 by the Endocrine Society

A novel molecular diagnostics platform for somatic and germline precision oncology.

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Cabanillas, Rubén; Diñeiro, Marta; Castillo, David; Pruneda, Patricia C; Penas, Cristina; Cifuentes, Guadalupe A; de Vicente, Álvaro; Durán, Noelia S; Álvarez, Rebeca; Ordóñez, Gonzalo R; Cadiñanos, Juan

2017-07-01

Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have developed a novel NGS diagnostic platform aimed at detecting (1) somatic genomic alterations associated with the response to approved targeted cancer therapies and (2) germline mutations predisposing to hereditary malignancies. Next-generation sequencing libraries enriched in the exons of 215 cancer genes (97 for therapy selection and 148 for predisposition, with 30 informative for both applications), as well as selected introns from 17 genes involved in drug-related rearrangements, were prepared from 39 tumors (paraffin-embedded tissues/cytologies), 36 germline samples (blood) and 10 cell lines using hybrid capture. Analysis of NGS results was performed with specifically developed bioinformatics pipelines. The platform detects single-nucleotide variants (SNVs) and insertions/deletions (indels) with sensitivity and specificity >99.5% (allelic frequency ≥0.1), as well as copy-number variants (CNVs) and rearrangements. Somatic testing identified tailored approved targeted drugs in 35/39 tumors (89.74%), showing a diagnostic yield comparable to that of leading commercial platforms. A somatic EGFR p.E746_S752delinsA mutation in a mediastinal metastasis from a breast cancer prompted its anatomopathologic reassessment, its definite reclassification as a lung cancer and its treatment with gefitinib (partial response sustained for 15 months). Testing of 36 germline samples identified two pathogenic mutations (in CDKN2A and BRCA2 ). We propose a strategy for interpretation and reporting of results adaptable to the aim of the request, the availability of tumor and/or normal samples and the scope of the informed consent. With an adequate methodology, it is possible to

Search for the glueball candidates f/sub 0/(1500) and f/sub J/(1710) in gamma gamma collisions

CERN Document Server

Shan, Jin

2001-01-01

Summary form only given. Data taken with the ALEPH detector at LEP1 have been used to search for gamma gamma production of the glueball candidates f/sub 0/(1500) and f/sub J/(1710) via their decay to pi /sup +/ pi /sup -//sub ./ No signal is observed and upper limits to the product of gamma gamma width and pi /sup +/ pi /sup b/ranching ratio of the f/sub 0/(1500) and the f/sub J/(1710) have been measured to be Gamma ( gamma gamma to f/sub 0/(1500)) BR(f/sub 0/(1500) to pi /sup +/ pi /sup -/) < 0 31keV and Gamma ( gamma gamma to f/sub J /(1710)) BR(f/sub J/(1710) to pi /sup +/ pi /sup -/) < 0 55keV at 95% confidence level.

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

Science.gov (United States)

Rasing, Sanne P. A.; Creemers, Daan H. M.; Janssens, Jan M. A. M.; Scholte, Ron H. J.

2015-01-01

Exposure to parental depression and anxiety is known to heighten the risk of internalizing symptoms and disorders in children and adolescents. Ample research has focused on the influence of maternal depression and anxiety, but the contribution of psychopathology in fathers remains unclear. We studied the relationships of perceived maternal and paternal psychopathology with adolescents’ depression and anxiety symptoms in a general population sample of 862 adolescent girls (age M = 12.39, SD = 0.79). Assessments included adolescents’ self-reports of their own depression and anxiety as well as their reports of maternal and paternal psychopathology. We found that perceived maternal and paternal psychopathology were both related to depression and anxiety symptoms in adolescent girls. A combination of higher maternal and paternal psychopathology was related to even higher levels of depression and anxiety in adolescent girls. Our findings showed that adolescents’ perceptions of their parents’ psychopathology are significantly related to their own emotional problems. PMID:26257664

Multiple paternity and hybridization in two smooth-hound sharks.

Science.gov (United States)

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

2015-08-10

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

Economics of paternalism: the hidden costs of self-commanding strategies

Directory of Open Access Journals (Sweden)

Christophe Salvat

2015-11-01

Full Text Available The paper proposes an economic assessment of paternalism by comparing different alternative responses to dynamically inconsistent behaviors consecutive to hyperbolic discounting. Two main types of action are possible, self-commanding strategies and paternalism The first category includes personal rules and pre-commitment The second can be subcategorized between coercive and non-coercive forms of paternalism, which are respectively associated (although it is debatable with legal paternalism and with ‘nudges’. Despite being self-inflicted, self-commanding strategies are actually not cost free and can result in a dramatic cutback of people’s freedom of choice. Likewise, legal paternalism can, on occasion, be less harmful than personal rules or pre-commitment; similarly, nudges can be more invasive and less effective than their proponents want us to believe. The aim of this paper is not to propose any standardized form of response to irrational behavior (whatever that may mean but to argue, on the contrary, that every case should be individually appraised. Individual situations can be remedied by self-commanding strategies or by paternalistic policies, either in isolation or in combination.

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

Science.gov (United States)

Peretti, Peter O.; Statum, Jo Ann

1984-01-01

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

Male germline stem cells in non-human primates

Directory of Open Access Journals (Sweden)

S. Sharma

2017-09-01

Full Text Available Over the past few decades, several studies have attempted to decipher the biology of mammalian germline stem cells (GSCs. These studies provide evidence that regulatory mechanisms for germ cell specification and migration are evolutionarily conserved across species. The characteristics and functions of primate GSCs are highly distinct from rodent species; therefore the findings from rodent models cannot be extrapolated to primates. Due to limited availability of human embryonic and testicular samples for research purposes, two non-human primate models (marmoset and macaque monkeys are extensively employed to understand human germline development and differentiation. This review provides a broader introduction to the in vivo and in vitro germline stem cell terminology from primordial to differentiating germ cells. Primordial germ cells (PGCs are the most immature germ cells colonizing the gonad prior to sex differentiation into testes or ovaries. PGC specification and migratory patterns among different primate species are compared in the review. It also reports the distinctions and similarities in expression patterns of pluripotency markers (OCT4A, NANOG, SALL4 and LIN28 during embryonic developmental stages, among marmosets, macaques and humans. This review presents a comparative summary with immunohistochemical and molecular evidence of germ cell marker expression patterns during postnatal developmental stages, among humans and non-human primates. Furthermore, it reports findings from the recent literature investigating the plasticity behavior of germ cells and stem cells in other organs of humans and monkeys. The use of non-human primate models would enable bridging the knowledge gap in primate GSC research and understanding the mechanisms involved in germline development. Reported similarities in regulatory mechanisms and germ cell expression profile in primates demonstrate the preclinical significance of monkey models for development of

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

Science.gov (United States)

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

2018-06-11

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

Mechanisms and consequences of paternally transmitted chromosomal abnormalities

Energy Technology Data Exchange (ETDEWEB)

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.

Widespread differential maternal and paternal genome effects on fetal bone phenotype at mid-gestation.

Science.gov (United States)

Xiang, Ruidong; Lee, Alice M C; Eindorf, Tanja; Javadmanesh, Ali; Ghanipoor-Samami, Mani; Gugger, Madeleine; Fitzsimmons, Carolyn J; Kruk, Zbigniew A; Pitchford, Wayne S; Leviton, Alison J; Thomsen, Dana A; Beckman, Ian; Anderson, Gail I; Burns, Brian M; Rutley, David L; Xian, Cory J; Hiendleder, Stefan

2014-11-01

Parent-of-origin-dependent (epi)genetic factors are important determinants of prenatal development that program adult phenotype. However, data on magnitude and specificity of maternal and paternal genome effects on fetal bone are lacking. We used an outbred bovine model to dissect and quantify effects of parental genomes, fetal sex, and nongenetic maternal effects on the fetal skeleton and analyzed phenotypic and molecular relationships between fetal muscle and bone. Analysis of 51 bone morphometric and weight parameters from 72 fetuses recovered at day 153 gestation (54% term) identified six principal components (PC1-6) that explained 80% of the variation in skeletal parameters. Parental genomes accounted for most of the variation in bone wet weight (PC1, 72.1%), limb ossification (PC2, 99.8%), flat bone size (PC4, 99.7%), and axial skeletal growth (PC5, 96.9%). Limb length showed lesser effects of parental genomes (PC3, 40.8%) and a significant nongenetic maternal effect (gestational weight gain, 29%). Fetal sex affected bone wet weight (PC1, p maternal genome effects on bone wet weight (74.1%, p paternal genome controlled limb ossification (95.1%, p maternal genome effects on growth plate height (98.6%, p maternal genome effects on fetal serum 25-hydroxyvitamin D (96.9%, p paternal genome effects on alkaline phosphatase (90.0%, p maternally controlled bone wet weight and paternally controlled limb ossification, respectively. Bone wet weight and flat bone size correlated positively with muscle weight (r = 0.84 and 0.77, p maternally expressed H19 regulates growth factors by miRNA interference, this suggests muscle-bone interaction via epigenetic factors. © 2014 American Society for Bone and Mineral Research.

Search for the glueball candidates $f_{0}$(1500) and $f_{J}$(1710) in $\\gamma\\gamma$ collisions in ALEPH Detector

CERN Document Server

Barate, R.; Ghez, Philippe; Goy, C.; Lees, J.P.; Merle, E.; Minard, M.N.; Pietrzyk, B.; Alemany, R.; Bravo, S.; Casado, M.P.; Chmeissani, M.; Crespo, J.M.; Fernandez, E.; Fernandez-Bosman, M.; Garrido, L.; Grauges, E.; Juste, A.; Martinez, M.; Merino, G.; Miquel, R.; Mir, L.M.; Pacheco, A.; Riu, I.; Ruiz, H.; Colaleo, A.; Creanza, D.; De Palma, M.; Iaselli, G.; Maggi, G.; Maggi, M.; Nuzzo, S.; Ranieri, A.; Raso, G.; Ruggieri, F.; Selvaggi, G.; Silvestris, L.; Tempesta, P.; Tricomi, A.; Zito, G.; Huang, X.; Lin, J.; Ouyang, Q.; Wang, T.; Xie, Y.; Xu, R.; Xue, S.; Zhang, J.; Zhang, L.; Zhao, W.; Abbaneo, D.; Boix, G.; Buchmuller, O.; Cattaneo, M.; Cerutti, F.; Ciulli, V.; Dissertori, G.; Drevermann, H.; Forty, R.W.; Frank, M.; Greening, T.C.; Halley, A.W.; Hansen, J.B.; Harvey, John; Janot, P.; Jost, B.; Lehraus, I.; Leroy, O.; Mato, P.; Minten, A.; Moutoussi, A.; Ranjard, F.; Rolandi, Gigi; Schlatter, D.; Schmitt, M.; Schneider, O.; Spagnolo, P.; Tejessy, W.; Teubert, F.; Tournefier, E.; Wright, A.E.; Ajaltouni, Z.; Badaud, F.; Chazelle, G.; Deschamps, O.; Falvard, A.; Ferdi, C.; Gay, P.; Guicheney, C.; Henrard, P.; Jousset, J.; Michel, B.; Monteil, S.; Montret, J.C.; Pallin, D.; Perret, P.; Podlyski, F.; Hansen, J.D.; Hansen, J.R.; Hansen, P.H.; Nilsson, B.S.; Rensch, B.; Waananen, A.; Daskalakis, G.; Kyriakis, A.; Markou, C.; Simopoulou, E.; Siotis, I.; Vayaki, A.; Blondel, A.; Bonneaud, G.; Brient, J.C.; Rouge, A.; Rumpf, M.; Swynghedauw, M.; Verderi, M.; Videau, H.; Focardi, E.; Parrini, G.; Zachariadou, K.; Corden, M.; Georgiopoulos, C.; Antonelli, A.; Bencivenni, G.; Bologna, G.; Bossi, F.; Campana, P.; Capon, G.; Chiarella, V.; Laurelli, P.; Mannocchi, G.; Murtas, F.; Murtas, G.P.; Passalacqua, L.; Pepe-Altarelli, M.; Curtis, L.; Lynch, J.G.; Negus, P.; O'Shea, V.; Raine, C.; Teixeira-Dias, P.; Thompson, A.S.; Cavanaugh, R.; Dhamotharan, S.; Geweniger, C.; Hanke, P.; Hansper, G.; Hepp, V.; Kluge, E.E.; Putzer, A.; Sommer, J.; Tittel, K.; Werner, S.; Wunsch, M.; Beuselinck, R.; Binnie, D.M.; Cameron, W.; Dornan, P.J.; Girone, M.; Goodsir, S.; Martin, E.B.; Marinelli, N.; Sciaba, A.; Sedgbeer, J.K.; Thomson, Evelyn J.; Williams, M.D.; Ghete, V.M.; Girtler, P.; Kneringer, E.; Kuhn, D.; Rudolph, G.; Bowdery, C.K.; Buck, P.G.; Finch, A.J.; Foster, F.; Hughes, G.; Jones, R.W.L.; Robertson, N.A.; Williams, M.I.; Giehl, I.; Jakobs, K.; Kleinknecht, K.; Quast, G.; Renk, B.; Rohne, E.; Sander, H.G.; Wachsmuth, H.; Zeitnitz, C.; Aubert, J.J.; Bonissent, A.; Carr, J.; Coyle, P.; Payre, P.; Rousseau, D.; Aleppo, M.; Antonelli, M.; Ragusa, F.; Buescher, Volker; Dietl, H.; Ganis, G.; Huttmann, K.; Lutjens, G.; Mannert, C.; Manner, W.; Moser, H.G.; Schael, S.; Settles, R.; Seywerd, H.; Stenzel, H.; Wiedenmann, W.; Wolf, G.; Azzurri, P.; Boucrot, J.; Callot, O.; Chen, S.; Cordier, A.; Davier, M.; Duflot, L.; Grivaz, J.F.; Heusse, P.; Jacholkowska, A.; Le Diberder, F.; Lefrancois, J.; Lutz, A.M.; Schune, M.H.; Veillet, J.J.; Videau, I.; Zerwas, D.; Bagliesi, Giuseppe; Boccali, T.; Bozzi, C.; Calderini, G.; Dell'Orso, R.; Ferrante, I.; Foa, L.; Giassi, A.; Gregorio, A.; Ligabue, F.; Marrocchesi, P.S.; Messineo, A.; Palla, F.; Rizzo, G.; Sanguinetti, G.; Sguazzoni, G.; Tenchini, R.; Venturi, A.; Verdini, P.G.; Blair, G.A.; Cowan, G.; Green, M.G.; Medcalf, T.; Strong, J.A.; Botterill, D.R.; Clifft, R.W.; Edgecock, T.R.; Norton, P.R.; Thompson, J.C.; Tomalin, I.R.; Bloch-Devaux, Brigitte; Colas, P.; Emery, S.; Kozanecki, W.; Lancon, E.; Lemaire, M.C.; Locci, E.; Perez, P.; Rander, J.; Renardy, J.F.; Roussarie, A.; Schuller, J.P.; Schwindling, J.; Trabelsi, A.; Vallage, B.; Black, S.N.; Dann, J.H.; Johnson, R.P.; Kim, H.Y.; Konstantinidis, N.; Litke, A.M.; McNeil, M.A.; Taylor, G.; Booth, C.N.; Cartwright, S.; Combley, F.; Lehto, M.; Thompson, L.F.; Affholderbach, K.; Boehrer, Armin; Brandt, S.; Grupen, C.; Hess, J.; Misiejuk, A.; Prange, G.; Sieler, U.; Giannini, G.; Gobbo, B.; Rothberg, J.; Wasserbaech, S.; Armstrong, S.R.; Elmer, P.; Ferguson, D.P.S.; Gao, Y.; Gonzalez, S.; Hayes, O.J.; Hu, H.; Jin, S.; Kile, J.; McNamara, P.A., III; Nielsen, J.; Orejudos, W.; Pan, Y.B.; Saadi, Y.; Scott, I.J.; Walsh, J.; von Wimmersperg-Toeller, J.H.; Wu, Sau Lan; Wu, X.; Zobernig, G.

2000-01-01

Data taken with the ALEPH detector at LEP1 have been used to search for gamma gamma production of the glueball candidates f0(1500) and fJ(1710) via their decay to pi+pi-. No signal is observed and upper limits to the product of gamma gamma width and pi+pi- branching ratio of the f0(1500) and the fJ(1710) have been measured to be Gamma_(gamma gamma -> f0(1500)). BR(f0(1500)->pi+pi-) fJ(1710)). BR(fJ(1710)->pi+pi-) < 0.55 keV at 95\\-onfidence level.

Germline APC mutations in hepatoblastoma.

Science.gov (United States)

Yang, Adeline; Sisson, Rebecca; Gupta, Anita; Tiao, Greg; Geller, James I

2018-04-01

Conflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB. An Institutional Review Board approved retrospective review of clinical data collected from patients with HB who received APC testing at our institution was conducted. All HB patients seen at Cincinnati Children's Hospital Medical Center were eligible for testing. Potential genotype/phenotype correlations were assessed. As of July 2015, 29 patients with HB had received constitutional APC testing. Four (14%) were found to have APC pathogenic truncations of the APC protein and in addition two (7%) had APC missense variants of unknown clinical significance. Two patients (7%) had family histories indicative of familial adenomatous polyposis (FAP). Response to chemotherapy tracked differently in APC pathogenic cases, with a slower imaging response despite an equivalent or slightly faster α-fetoprotein (AFP) response. The prevalence of pathogenic APC variants in apparently sporadic HB may be higher than previously detected. Differences in time to imaging response, despite similar AFP response, may impact surgical planning. All patients with HB warrant germline APC mutation testing for underlying FAP. © 2017 Wiley Periodicals, Inc.

Resolving Questioned Paternity Issues Using a Philippine Genetic Database

Directory of Open Access Journals (Sweden)

Maria Corazon De Ungria

2002-06-01

Full Text Available The utility of the Philippines genetic database consisting of seven Short Tandem Repeat (STR markers for testing of ten questioned paternity cases was investigated. The markers used were HUMvWA, HUMTH01, HUMCSF1PO, HUMFOLP23, D8S306, HUMFES/FPS, and HUMF13A01. These markers had a combined Power of Paternity Exclusion of 99.17%. Due to the gravity of some cases handled in the laboratory, routine procedures must be assessed to determine the capacity of the analysis to exclude a non-father of predict paternity. Clients showed a preference for only testing father and child to lower costs and reduce conflicts, particularly when the mother objects to the conduct of DNA tests, or when she is deceased or cannot be located. The Probability of Paternity was calculated with and without the mother’s profile in each of the cases. In all instances, results were more informative when the mother’s DNA profile was included. Moreover, variations in the allelic distribution of five STR markers among eight Caucasian, one African-American, and two Amerindian (Argentina populations resulted in significant differences in Probability of Paternity estimates compared to those calculated using the Philippine Database.Based on the results of the present study, it is recommended that tests on alleged father-child samples be performed to screen for at least two mismatches. In the absence of theses mismatches, further analysis that includes the mother’s DNA profile is recommended. Moreover, it is recommended that a Philippines genetic database be used for DNA-based paternity testing in the Philippines.

Flow cytometry sorting of nuclei enables the first global characterization of Paramecium germline DNA and transposable elements.

Science.gov (United States)

Guérin, Frédéric; Arnaiz, Olivier; Boggetto, Nicole; Denby Wilkes, Cyril; Meyer, Eric; Sperling, Linda; Duharcourt, Sandra

2017-04-26

DNA elimination is developmentally programmed in a wide variety of eukaryotes, including unicellular ciliates, and leads to the generation of distinct germline and somatic genomes. The ciliate Paramecium tetraurelia harbors two types of nuclei with different functions and genome structures. The transcriptionally inactive micronucleus contains the complete germline genome, while the somatic macronucleus contains a reduced genome streamlined for gene expression. During development of the somatic macronucleus, the germline genome undergoes massive and reproducible DNA elimination events. Availability of both the somatic and germline genomes is essential to examine the genome changes that occur during programmed DNA elimination and ultimately decipher the mechanisms underlying the specific removal of germline-limited sequences. We developed a novel experimental approach that uses flow cell imaging and flow cytometry to sort subpopulations of nuclei to high purity. We sorted vegetative micronuclei and macronuclei during development of P. tetraurelia. We validated the method by flow cell imaging and by high throughput DNA sequencing. Our work establishes the proof of principle that developing somatic macronuclei can be sorted from a complex biological sample to high purity based on their size, shape and DNA content. This method enabled us to sequence, for the first time, the germline DNA from pure micronuclei and to identify novel transposable elements. Sequencing the germline DNA confirms that the Pgm domesticated transposase is required for the excision of all ~45,000 Internal Eliminated Sequences. Comparison of the germline DNA and unrearranged DNA obtained from PGM-silenced cells reveals that the latter does not provide a faithful representation of the germline genome. We developed a flow cytometry-based method to purify P. tetraurelia nuclei to high purity and provided quality control with flow cell imaging and high throughput DNA sequencing. We identified 61

Protection of germline gene expression by the C. elegans Argonaute CSR-1.

Science.gov (United States)

Wedeles, Christopher J; Wu, Monica Z; Claycomb, Julie M

2013-12-23

In Caenorhabditis elegans, the Piwi-interacting small RNA (piRNA)-mediated germline surveillance system encodes more than 30,000 unique 21-nucleotide piRNAs, which silence a variety of foreign nucleic acids. What mechanisms allow endogenous germline-expressed transcripts to evade silencing by the piRNA pathway? One likely candidate in a protective mechanism is the Argonaute CSR-1, which interacts with 22G-small RNAs that are antisense to nearly all germline-expressed genes. Here, we use an in vivo RNA tethering assay to demonstrate that the recruitment of CSR-1 to a transcript licenses expression of the transcript, protecting it from piRNA-mediated silencing. Licensing occurs mainly at the level of transcription, as we observe changes in pre-mRNA levels consistent with transcriptional activation when CSR-1 is tethered. Furthermore, the recruitment of CSR-1 to a previously silenced locus transcriptionally activates its expression. Together, these results demonstrate a rare positive role for an endogenous Argonaute pathway in heritably licensing and protecting germline transcripts.

TGF-β superfamily signaling in testis formation and early male germline development.

Science.gov (United States)

Young, Julia C; Wakitani, Shoichi; Loveland, Kate L

2015-09-01

The TGF-β ligand superfamily contains at least 40 members, many of which are produced and act within the mammalian testis to facilitate formation of sperm. Their progressive expression at key stages and in specific cell types determines the fertility of adult males, influencing testis development and controlling germline differentiation. BMPs are essential for the interactive instructions between multiple cell types in the early embryo that drive initial specification of gamete precursors. In the nascent foetal testis, several ligands including Nodal, TGF-βs, Activins and BMPs, serve as key masculinizing switches by regulating male germline pluripotency, somatic and germline proliferation, and testicular vascularization and architecture. In postnatal life, local production of these factors determine adult testis size by regulating Sertoli cell multiplication and differentiation, in addition to specifying germline differentiation and multiplication. Because TGF-β superfamily signaling is integral to testis formation, it affects processes that underlie testicular pathologies, including testicular cancer, and its potential to contribute to subfertility is beginning to be understood. Copyright © 2015 Elsevier Ltd. All rights reserved.

Case-control analysis of paternal age and trisomic anomalies

DEFF Research Database (Denmark)

De Souza, E; Morris, David Jackson; Garne, Ester

2010-01-01

To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome.......To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome....

Paternal Involvement in Child- Rearing Activities: The Perspective of ...

African Journals Online (AJOL)

In recognition of the need to widen the scope of fatherhood scholarship, this article centered on examining paternal involvement but in a socio- cultural context and developmental stage that has headed little attention in previous research. An attempt was made to investigate the nature of paternal involvement (ways, desires ...

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

Science.gov (United States)

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

2013-02-01

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

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

Science.gov (United States)

Zagorsky, Jay L

2017-03-01

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

Is advanced paternal age a health risk for the offspring?

DEFF Research Database (Denmark)

Andersen, Anne-Marie Nybo; Urhoj, Stine Kjaer

2017-01-01

consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and retinoblastoma, and neurodevelopmental disorders in the autism spectrum and schizophrenia. Finally, we consider the public health impact of the increasing paternal age...

Inclusive production of {rho}{sup 0}(770), f{sub 0}(980) and f{sub 2}(1270) mesons in {nu}{sub {mu}} charged current interactions

Energy Technology Data Exchange (ETDEWEB)

Astier, P.; Autiero, D.; Baldisseri, A.; Baldo-Ceolin, M.; Banner, M.; Bassompierre, G.; Benslama, K.; Besson, N.; Bird, I.; Blumenfeld, B.; Bobisut, F.; Bouchez, J.; Boyd, S.; Bueno, A.; Bunyatov, S.; Camilleri, L.; Cardini, A.; Cattaneo, P.W.; Cavasinni, V.; Cervera-Villanueva, A.; Collazuol, G.; Conforto, G.; Conta, C.; Contalbrigo, M.; Cousins, R.; Daniels, D.; Degaudenzi, H.; Del Prete, T.; De Santo, A.; Dignan, T.; Di Lella, L.; Couto e Silva, E. do; Dumarchez, J.; Ellis, M.; Fazio, T.; Feldman, G.J.; Ferrari, R.; Ferrere, D.; Flaminio, V.; Fraternali, M.; Gaillard, J.-M.; Gangler, E.; Geiser, A.; Geppert, D.; Gibin, D.; Gninenko, S.; Godley, A.; Gomez-Cadenas, J.-J.; Gosset, J.; Goessling, C.; Gouanere, M.; Grant, A.; Graziani, G.; Guglielmi, A.; Hagner, C.; Hernando, J.; Hubbard, D.; Hurst, P.; Hyett, N.; Iacopini, E.; Joseph, C.; Juget, F.; Kirsanov, M. E-mail: mikhail.kirsanov@cern.ch; Klimov, O.; Kokkonen, J.; Kovzelev, A.; Krasnoperov, A.; Kuznetsov, V.; Lacaprara, S.; Lachaud, C.; Lakic, B.; Lanza, A.; LaRotonda, L.; Laveder, M.; Letessier-Selvon, A.; Levy, J.-M.; Linssen, L.; Ljubicic, A.; Long, J.; Lupi, A.; Marchionni, A.; Martelli, F.; Mechain, X.; Mendiburu, J.-P.; Meyer, J.-P.; Mezzetto, M.; Mishra, S.R.; Moorhead, G.F.; Naumov, D.; Nedelec, P.; Nefedov, Yu.; Nguyen-Mau, C.; Orestano, D.; Pastore, F.; Peak, L.S.; Pennacchio, E.; Pessard, H.; Petti, R.; Placci, A.; Polesello, G.; Pollmann, D.; Polyarush, A.; Popov, B.; Poulsen, C.; Rathouit, P.; Rico, J.; Roda, C.; Rubbia, A.; Salvatore, F.; Schahmaneche, K.; Schmidt, B.; Sevior, M.; Sillou, D.; Soler, F.J.P.; Sozzi, G.; Steele, D.; Stiegler, U.; Stipcevic, M.; Stolarczyk, Th.; Tareb-Reyes, M.; Taylor, G.N.; Tereshchenko, V.; Toropin, A.; Touchard, A.-M.; Tovey, S.N.; Tran, M.-T.; Tsesmelis, E.; Ulrichs, J.; Vacavant, L.; Valdata-Nappi, M.; Valuev, V.; Vannucci, F.; Varvell, K.E.; Veltri, M.; Vercesi, V.; Vidal-Sitjes, G.; Vieira, J.-M.; Vinogradova, T.; Weber, F.V.; Weisse, T. [and others

2001-05-07

The inclusive production of the meson resonances {rho}{sup 0}(770), f{sub 0}(980) and f{sub 2}(1270) in neutrino-nucleus charged current interactions has been studied with the NOMAD detector exposed to the wide band neutrino beam generated by 450 GeV protons at the CERN SPS. For the first time the f{sub 0}(980) meson is observed in neutrino interactions. The statistical significance of its observation is 6 standard deviations. The presence of f{sub 2}(1270) in neutrino interactions is reliably established. The average multiplicity of these three resonances is measured as a function of several kinematic variables. The experimental results are compared to the multiplicities obtained from a simulation based on the Lund model. In addition, the average multiplicity of {rho}{sup 0}(770) in antineutrino-nucleus interactions is measured.

25 CFR 11.609 - Determination of paternity and support.

Science.gov (United States)

2010-04-01

... OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... 25 Indians 1 2010-04-01 2010-04-01 false Determination of paternity and support. 11.609 Section 11... child and to obtain a judgment for the support of the child. A judgment of the court establishing the...

Effects of paternal age and offspring cognitive ability in early adulthood on the risk of schizophrenia and related disorders

DEFF Research Database (Denmark)

Sørensen, Holger J; Pedersen, Carsten B; Nordentoft, Merete

2014-01-01

Advanced paternal age (APA) and intelligence quotient (IQ) are both associated with the risk of schizophrenia spectrum disorder (SSD) in young adult offspring. We hypothesized that the offspring SSD risk gradient associated with paternal age is mediated by offspring IQ. We investigated joint...... the incidence rate ratio (IRR) of SSD. During the follow-up, 528 men developed SSD (incidence rate [IR] 5.2 and 8.6 per 10,000 person-years in the first and second cohorts, respectively). APA was associated with higher risk of SSD (IRR, 1.32; 95% CI, 1.10-1.60 per a ten-year increase in paternal age). A higher...... IQ was associated with lower SSD risk (IRR, 0.68; 95% confidence interval [CI], 0.63-0.74 per one SD increase). The IR of SSD was higher among persons who were draft-exempt for health reasons (APA-related SSD (individuals...

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

Science.gov (United States)

ünüvar, Perihan

2017-01-01

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

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

DEFF Research Database (Denmark)

Ylisaukko-oja, Sanna K.; Cybulski, Cezary; Lehtonen, Rainer

2006-01-01

Germline mutations in the fumarate hydratase (FH) gene were recently shown to predispose to the dominantly inherited syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is characterized by benign leiomyomas of the skin and the uterus, renal cell carcinoma, and uterine...... leiomyosarcoma. The aim of this study was to identify new families with FH mutations, and to further examine the tumor spectrum associated with FH mutations. FH germline mutations were screened from 89 patients with RCC, skin leiomyomas or ovarian tumors. Subsequently, 13 ovarian and 48 bladder carcinomas were...

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

Science.gov (United States)

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

2015-12-01

The purpose of the present study is to determine if paternal or maternal history of diabetes mellitus (DM) and hypertension (HT) contributes to the prevalence and phenotype of polycystic ovary syndrome (PCOS). We performed an epidemiologic study about PCOS from four districts in Beijing, China, between 2008 and 2009. Parental histories of DM and HT were collected, and the basic characteristics and serum indices of 123 PCOS patients and 718 non-PCOS controls were tested. The prevalence of a parental history of DM and HT was significantly higher in PCOS patients than non-PCOS women (17.1 % vs. 9.2 % and 42.3 % vs. 26.0 %, P PCOS and non-PCOS patients (odds ratio (OR) = 3.42, 95 % confidence interval (CI) = 1.69-6.91; OR = 2.50, 95 % CI = 1.58-3.93, respectively). A paternal history of both DM and HT was significantly associated with sex hormone-binding globulin, fasting plasma glucose, and fasting insulin levels, the free androgen index, and the homeostatic model assessment-insulin resistance in PCOS patients (P PCOS. PCOS patients with a positive paternal history of both DM and HT have an adverse endocrine and metabolic profile. A paternal history of DM and HT poses a risk to PCOS.

Impact of maternal and paternal smoking on birth outcomes.

Science.gov (United States)

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

2017-09-01

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

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

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Nuno D Pires

2016-01-01

Full Text Available 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.

Intergenerational Comparisons of Paternal Korean Child Rearing Practices and Attitudes.

Science.gov (United States)

Jung, Kwanghee; Honig, Alice Sterling

2000-01-01

Explored possible antecedents of paternal child rearing in middle-class, two-parent, Korean families. Found that fathers reported disciplinary practices similar to those of their own fathers. Fathers reported more nurturance and acceptance/flexibility than grandfathers. Paternal job satisfaction, relationship with own mother, and educational…

Risk of Adverse Pregnancy Outcome After Paternal Exposure to Methotrexate Within 90 Days Before Pregnancy

DEFF Research Database (Denmark)

Eck, Lasse Karlsen; Jensen, Thomas Bo; Mastrogiannis, Dimitrios

2017-01-01

OBJECTIVE: To study the association between paternal exposure to methotrexate within the 90-day period before pregnancy and congenital malformations and stillbirth in the offspring. METHODS: We conducted a nationwide register study. Our cohort consisted of all live births in Denmark between 1997...... group and no increased risk of preterm birth (adjusted OR 1.31, 95% CI 0.66-2.59) among the children from exposed fathers. CONCLUSION: We found no association between paternal exposure to methotrexate within 90 days before pregnancy and congenital malformations, stillbirths, or preterm birth. Available...

Cancer-germline antigen vaccines and epigenetic enhancers

DEFF Research Database (Denmark)

Gjerstorff, Morten Frier; Burns, Jorge; Ditzel, Henrik Jorn

2010-01-01

IMPORTANCE OF THE FIELD: Immunotherapy holds great potential for disseminated cancer, and cancer-germline (CG) antigens are among the most promising tumor targets. They are widely expressed in different cancer types and are essentially tumor-specific, since their expression in normal tissues is l...

Risk profile of the RET A883F germline mutation

DEFF Research Database (Denmark)

Mathiesen, Jes Sloth; Habra, Mouhammed Amir; Bassett, John Howard Duncan

2017-01-01

the highest to high risk level, although no well-defined risk profile for this mutation exists. Objective: To create a risk profile for the A883F mutation for appropriate classification in the ATA risk levels. Design: Retrospective analysis. Setting: International collaboration. Patients: Included were 13 A...... seems to have a more indolent natural course compared to that of M918T carriers. Our results support the classification of the A883F mutation in the ATA high risk level....

Paternity analysis based on NGM SElect system in the Medical and Forensic Genetics Laboratory, Department of Forensic Medicine, Medical University of Lodz

Directory of Open Access Journals (Sweden)

Beata Markiewicz-Knyziak

2015-08-01

Full Text Available The aim of the study was to evaluate the usefulness of the NGM SElect multiplex kit for paternity testing in the population of central Poland, and compare it with the IDENTIFILER system. The study material consisted of buccal swabs taken from individuals who reported to the Medical and Forensic Genetics Laboratory in Lodz. Samples from 450 trio cases of disputed paternity carried out in 2010–2014 were investigated. Genomic DNA was extracted from buccal swabs collected from 1,350 individuals using the Swab kit (A&A Biotechnology according to the manufacturer’s protocol. DNA amplification was performed using the AmpFℓSTR ® NGM Select TM PCR Amplification Kit (Life Technologies. PCR products were separated by capillary electrophoresis using HID 3500 Genetic Analyzer. In the analyzed cases with paternity confirmation in the NGM SElect system, the maximum value of PI was 3.9 × 10 12 , which corresponds to the probability of paternity W = 99.9999999999%. It was thus significantly higher than analogical parameters obtained in the IDENTIFILER system (PI = 6.0 × 10 10 , W = 99.99999999%. The NGM SElect kit was unable to resolve just one case out of 450, which represents only 0.2% of all analyzed disputed paternity cases. The study showed the SE33 (ACTBP2 locus to have the highest evidence value in paternity analysis out of all investigated autosomal STRs.

From killer to carer: steroid hormones and paternal behaviour | de ...

African Journals Online (AJOL)

Mammalian parental investment (i.e. care of descendant offspring) is largely biased towards maternal contributions due to the specific feeding needs of mammalian offspring; however, varying degrees of paternal investment have been reported in about 10% of all mammalian species. Within the order Carnivora, paternal ...

CSR-1 and P granules suppress sperm-specific transcription in the C. elegans germline.

Science.gov (United States)

Campbell, Anne C; Updike, Dustin L

2015-05-15

Germ granules (P granules) in C. elegans are required for fertility and function to maintain germ cell identity and pluripotency. Sterility in the absence of P granules is often accompanied by the misexpression of soma-specific proteins and the initiation of somatic differentiation in germ cells. To investigate whether this is caused by the accumulation of somatic transcripts, we performed mRNA-seq on dissected germlines with and without P granules. Strikingly, we found that somatic transcripts do not increase in the young adult germline when P granules are impaired. Instead, we found that impairing P granules causes sperm-specific mRNAs to become highly overexpressed. This includes the accumulation of major sperm protein (MSP) transcripts in germ cells, a phenotype that is suppressed by feminization of the germline. A core component of P granules, the endo-siRNA-binding Argonaute protein CSR-1, has recently been ascribed with the ability to license transcripts for germline expression. However, impairing CSR-1 has very little effect on the accumulation of its mRNA targets. Instead, we found that CSR-1 functions with P granules to prevent MSP and sperm-specific mRNAs from being transcribed in the hermaphrodite germline. These findings suggest that P granules protect germline integrity through two different mechanisms, by (1) preventing the inappropriate expression of somatic proteins at the level of translational regulation, and by (2) functioning with CSR-1 to limit the domain of sperm-specific expression at the level of transcription. © 2015. Published by The Company of Biologists Ltd.

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.

Science.gov (United States)

Lowery, Maeve A; Wong, Winston; Jordan, Emmet J; Lee, Jonathan W; Kemel, Yelena; Vijai, Joseph; Mandelker, Diana; Zehir, Ahmet; Capanu, Marinela; Salo-Mullen, Erin; Arnold, Angela G; Yu, Kenneth H; Varghese, Anna M; Kelsen, David P; Brenner, Robin; Kaufmann, Erica; Ravichandran, Vignesh; Mukherjee, Semanti; Berger, Michael F; Hyman, David M; Klimstra, David S; Abou-Alfa, Ghassan K; Tjan, Catherine; Covington, Christina; Maynard, Hannah; Allen, Peter J; Askan, Gokce; Leach, Steven D; Iacobuzio-Donahue, Christine A; Robson, Mark E; Offit, Kenneth; Stadler, Zsofia K; O'Reilly, Eileen M

2018-02-28

Identification of pathogenic germline alterations (PGAs) has important clinical and therapeutic implications in pancreas cancer. We performed comprehensive germline testing (GT) in an unselected prospective cohort of patients with exocrine pancreatic neoplasms with genotype and phenotype association to facilitate identification of prognostic and/or predictive biomarkers and examine potential therapeutic implications. Six hundred fifteen unselected patients with exocrine pancreatic neoplasms were prospectively consented for somatic tumor and matched sample profiling for 410-468 genes. GT for PGAs in 76 genes associated with cancer susceptibility was performed in an "identified" manner in 356 (57.9%) patients and in an "anonymized" manner in 259 (42.1%) patients, using an institutional review board-approved protocol. Detailed clinical and pathological features, response to platinum, and overall survival (OS) were collected for the identified cohort. OS was analyzed with Kaplan-Meier curves. PGAs were present in 122 (19.8%) of 615 patients involving 24 different genes, including BRCA1/2, ATM, PALB2, and multiple additional genes associated with the DNA damage response pathway. Of 122 patients with germline alterations, 41.8% did not meet current guidelines for GT. The difference in median OS was not statistically significant between patients with and without PGA (50.8 months, 95% confidence interval = 34.5 to not reached, two-sided P = .94). Loss of heterozygosity was found in 60.0% of BRCA1/2. PGAs frequently occur in pancreas exocrine neoplasms and involve multiple genes beyond those previously associated with hereditary pancreatic cancer. These PGAs are therapeutically actionable in about 5% to 10% of patients. These data support routinely offering GT in all pancreatic ductal adenocarcimona patients with a broad panel of known hereditary cancer predisposition genes.

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

Science.gov (United States)

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

2008-09-01

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

Psychosocial factors associated with paternal postnatal depression.

Science.gov (United States)

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

2013-08-15

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

Associations Between Paternal Responsiveness and Stress Responsiveness in the Biparental California Mouse, Peromyscus californicus

OpenAIRE

Chauke, Miyetani

2012-01-01

The mechanistic basis of paternal behavior in mammals is poorly understood. Assuming there are parallels between the factors mediating maternal and paternal behavior, it can be expected that the onset of paternal behavior is facilitated by reductions in stress responsiveness, as occurs in females of several mammalian species. This dissertation describes studies investigating the role of stress responsiveness in the expression of paternal behavior in biparental, monogamous California mice (Per...

Drosophila interspecific hybrids phenocopy piRNA-pathway mutants.

Directory of Open Access Journals (Sweden)

Erin S Kelleher

Full Text Available The Piwi-interacting RNA (piRNA pathway defends the germline of animals from the deleterious activity of selfish transposable elements (TEs through small-RNA mediated silencing. Adaptation to novel invasive TEs is proposed to occur by incorporating their sequences into the piRNA pool that females produce and deposit into their eggs, which then propagates immunity against specific TEs to future generations. In support of this model, the F1 offspring of crosses between strains of the same Drosophila species sometimes suffer from germline derepression of paternally inherited TE families, caused by a failure of the maternal strain to produce the piRNAs necessary for their regulation. However, many protein components of the Drosophila piRNA pathway exhibit signatures of positive selection, suggesting that they also contribute to the evolution of host genome defense. Here we investigate piRNA pathway function and TE regulation in the F1 hybrids of interspecific crosses between D. melanogaster and D. simulans and compare them with intraspecific control crosses of D. melanogaster. We confirm previous reports showing that intraspecific crosses are characterized by derepression of paternally inherited TE families that are rare or absent from the maternal genome and piRNA pool, consistent with the role of maternally deposited piRNAs in shaping TE silencing. In contrast to the intraspecific cross, we discover that interspecific hybrids are characterized by widespread derepression of both maternally and paternally inherited TE families. Furthermore, the pattern of derepression of TE families in interspecific hybrids cannot be attributed to their paucity or absence from the piRNA pool of the maternal species. Rather, we demonstrate that interspecific hybrids closely resemble piRNA effector-protein mutants in both TE misregulation and aberrant piRNA production. We suggest that TE derepression in interspecific hybrids largely reflects adaptive divergence of pi

How consistent are associations between maternal and paternal education and child growth and development outcomes across 39 low-income and middle-income countries?

Science.gov (United States)

Jeong, Joshua; Kim, Rockli; Subramanian, S V

2018-05-01

Maternal and paternal education are associated with improved early child outcomes. However, less is known about how these relative associations compare for preschool children's growth versus development outcomes; and across country contexts. We analysed data from 89 663 children aged 36 to 59 months in 39 low-income and middle-income countries (LMICs). We used linear regression models with country fixed effects to estimate the joint associations between maternal and paternal education and children's growth and development outcomes. Additionally, we examined the variability in these relationships by each country and within subgroups of countries. In the pooled sample, maternal and paternal education were independently associated with 0.37 (95% CI 0.33 to 0.41) and 0.20 (95% CI 0.16 to 0.24) higher height-for-age z-scores, and 0.31 (95% CI 0.29 to 0.34) and 0.16 (95% CI 0.14 to 0.18) higher Early Childhood Development Index z-scores, respectively (comparing secondary or higher to no education). Associations were stronger for maternal education than paternal education but comparable between child outcomes. In country-specific regressions, we found the most heterogeneity in the associations between maternal education and children's growth; and between paternal education and children's development. Subgroup analyses suggested that these associations may be systematically patterned by country-level adult illiteracy, infant mortality and food insecurity. Our findings highlight variability in the statistical significance and magnitude of the associations between caregivers' education and children's outcomes. Further research is needed to understand the sources of variation that may promote or constrain the benefits of caregivers' education for children's early health and development in LMICs. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly

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

Directory of Open Access Journals (Sweden)

F Hashemian

2016-01-01

Full Text Available 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.

Magnetic anisotropy of cobalt nanoparticle 2D arrays grown on corrugated MnF{sub 2}(1 1 0) and CaF{sub 2}(1 1 0) surfaces

Energy Technology Data Exchange (ETDEWEB)

Baranov, D.A., E-mail: dbaranov@mail.ioffe.ru [Ioffe Physical-Technical Institute, Russian Academy of Sciences, 26 Polytechnicheskaya str., St. Petersburg 194021 (Russian Federation); Krichevtsov, B.B.; Gastev, S.V.; Banschikov, A.G.; Fedorov, V.V. [Ioffe Physical-Technical Institute, Russian Academy of Sciences, 26 Polytechnicheskaya str., St. Petersburg 194021 (Russian Federation); Koshmak, K.V. [Ioffe Physical-Technical Institute, Russian Academy of Sciences, 26 Polytechnicheskaya str., St. Petersburg 194021 (Russian Federation); Dipartimento di Ingegneria dei Materiali e dell’Ambiente, Università di Modena e Reggio Emilia, Via Vignolese 905, 41100 Modena (Italy); Suturin, S.M.; Sokolov, N.S. [Ioffe Physical-Technical Institute, Russian Academy of Sciences, 26 Polytechnicheskaya str., St. Petersburg 194021 (Russian Federation)

2013-02-15

Cobalt nanoparticle 2D arrays with different effective thicknesses of cobalt layer (2 nm < d{sub eff} < 10 nm) were grown by molecular beam epitaxy on CaF{sub 2}(1 1 0)/Si(0 0 1) and MnF{sub 2}(1 1 0)/CaF{sub 2}(1 1 0)/Si(0 0 1) substrates with corrugated morphology of the surface. Surface morphology analysis showed that for effective thickness of cobalt layer d{sub eff} = 5 nm the lateral dimensions of cobalt islands are about 5–10 nm and the distances between the islands differs in a half along and across the grooves. In both types of the heterostructures the shape of hysteresis loops measured by LMOKE depend on orientation of in-plane magnetic field relative to the direction of the grooves. The azimuthal dependence of coercive field H{sub c} in Co/CaF{sub 2}(1 1 0)/Si(0 0 1) structures corresponds to Stoner–Wohlfarth model's predictions, which takes into account the anisotropy of individual particles. In contrast to that, in Co/MnF{sub 2}(1 1 0)/CaF{sub 2}(1 1 0)/Si(0 0 1) structures these dependences are analogous to those predicted by the model based on account of magnetic–dipole interaction between particles which are placed in chains (chain-of-spheres-model). Possible explanations of the difference in magnetic anisotropy are suggested.

Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature

International Nuclear Information System (INIS)

Corso, Giovanni; Marrelli, Daniele; Pascale, Valeria; Vindigni, Carla; Roviello, Franco

2012-01-01

The frequency of E-cadherin germline mutations in countries with different incidence rates for gastric carcinoma has not been well established. The goal of this study was to assess the worldwide frequency of CDH1 germline mutations in gastric cancers coming from low- and high-risk areas. English articles using MEDLINE access (from 1998 to 2011). Search terms included CDH1, E-cadherin, germline mutation, gastric cancer, hereditary, familial and diffuse histotype. The study included all E-cadherin germline mutations identified in gastric cancer patients; somatic mutations and germline mutations reported in other tumors were excluded. The method of this study was scheduled in accordance with the 'PRISMA statement for reporting systematic reviews and meta-analyses'. Countries were classified as low- or middle/high risk-areas for gastric carcinoma incidence. Statistical analysis was performed to correlate the CDH1 mutation frequency with gastric cancer incidence areas. A total of 122 E-cadherin germline mutations have been identified; the majority (87.5%) occurred in gastric cancers coming from low-risk areas. In high-risk areas, we identified 16 mutations in which missense mutations were predominant. (68.8%). We verified a significant association between the mutation frequency and the gastric cancer risk area (p < 0.001: overall identified mutations in low- vs. middle/high-risk areas). E-cadherin genetic screenings performed in low-risk areas for gastric cancer identified a higher frequency of CDH1 germline mutations. This data could open new approaches in the gastric cancer prevention test; before proposing a proband candidate for the CDH1 genetic screening, geographic variability, alongside the family history should be considered

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

Science.gov (United States)

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

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

Science.gov (United States)

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

2014-07-01

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

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

Science.gov (United States)

Hector, Colin

2012-01-01

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

Fitness loss and germline mutations in barn swallows breeding in Chernobyl

Energy Technology Data Exchange (ETDEWEB)

Ellegren, Hans; Lindgren, Gabriella; Primmer, C.R. [Swedish Univ. of Agricultural Sciences, Animal Breeding and Genetics Dept., Uppsala (Sweden); Moeller, A.P. [Universite Pierre et Marie Curie. Lab. d`Ecologie, Paris, 75 (France)

1997-10-09

The severe nuclear accident at Chernobyl in 1986 resulted in the worst reported accidental exposure of radioactive material to free-living organisms. Short-term effects on human populations inhabiting polluted areas include increased incidence of thyroid cancer, infant leukaemia, and congenital malformations in newborns. Two recent studies have reported, although with some controversy, that germline mutation rates were increased in humans and voles living close to Chernobyl, but little is known about the viability of the organisms affected. Here we report an increased frequency of partial albinism, a morphological aberration associated with a loss of fitness, among barn swallows, Hirundo rustica, breeding close to Chernobyl. Heretability estimates indicate that mutations causing albinism were at least partly of germline origin. Furthermore, evidence for an increased germline mutation rate was obtained from segregation analysis at two hypervariable microsatellite loci, indicating that mutation events in barn swallows from Chernobyl were two- to tenfold higher than in birds from control areas in Ukraine and Italy. (author).

Fitness loss and germline mutations in barn swallows breeding in Chernobyl

International Nuclear Information System (INIS)

Ellegren, Hans; Lindgren, Gabriella; Primmer, C.R.; Moeller, A.P.

1997-01-01

The severe nuclear accident at Chernobyl in 1986 resulted in the worst reported accidental exposure of radioactive material to free-living organisms. Short-term effects on human populations inhabiting polluted areas include increased incidence of thyroid cancer, infant leukaemia, and congenital malformations in newborns. Two recent studies have reported, although with some controversy, that germline mutation rates were increased in humans and voles living close to Chernobyl, but little is known about the viability of the organisms affected. Here we report an increased frequency of partial albinism, a morphological aberration associated with a loss of fitness, among barn swallows, Hirundo rustica, breeding close to Chernobyl. Heretability estimates indicate that mutations causing albinism were at least partly of germline origin. Furthermore, evidence for an increased germline mutation rate was obtained from segregation analysis at two hypervariable microsatellite loci, indicating that mutation events in barn swallows from Chernobyl were two- to tenfold higher than in birds from control areas in Ukraine and Italy. (author)

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

DEFF Research Database (Denmark)

Møller, Rikke S; Weckhuysen, Sarah; Chipaux, Mathilde

2016-01-01

OBJECTIVE: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. METHODS: We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel...... sequencing. Germline mutations in MTOR were assessed in a French research cohort of 93 probands with focal epilepsies and in a diagnostic Danish cohort of 245 patients with a broad range of epilepsies. Data sharing among collaborators allowed us to ascertain additional germline variants in MTOR. RESULTS: We...... detected recurrent somatic variants (p.Ser2215Phe, p.Ser2215Tyr, and p.Leu1460Pro) in the MTOR gene in 37% of participants with FCD II and showed histologic evidence for activation of the mTORC1 signaling cascade in brain tissue. We further identified 5 novel de novo germline missense MTOR variants in 6...

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

Science.gov (United States)

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

2017-05-01

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

The certainty that engendered doubt: paternity and DNA

Directory of Open Access Journals (Sweden)

Claudia Fonseca

Full Text Available There has been a surge in the use of DNA paternity tests in Brazil in both private and government laboratories. This raises interesting questions about the influence of the medical and legal spheres on gender and kinship relations in contemporary society. To analyze this phenomenon, we conducted research and observations in various government agencies in Porto Alegre (the Public Defender's office, Mediation Hearings, Family Court and the Court's Medical Service of people involved in legal disputes over paternal identification. We also studied how recent changes in the laws concerning paternal recognition are applied by the different personalities on the scene. Based on this data, we present the hypothesis that far from inspiring greater tranquility, the simple existence of the test instigates doubt. This has profound repercussions on our form of "knowing" who is the father. The situation described in this paper raises new challenges for an anthropology of knowledge, which focuses on an analysis of Western beliefs - including scientific ones.

Perceived childhood paternal acceptance-rejection among adults

International Nuclear Information System (INIS)

Hussain, S.; Alvi, T.; Zeeshan, A.; Nadeem, S.

2013-01-01

Objective: To determine the childhood perceptual difference of paternal acceptance-rejection between those having psychological disorders and non-clinical population during adulthood. Study Design: Comparative study. Place and Duration of Study: Karwan-e-Hayat, Psychiatric Care and Rehabilitation Centre, Keamari, Karachi, Pakistan, from January to August 2011. Methodology: To test our hypotheses, 69 participants were selected from Karwan-e-Hayat Psychiatric Care and Rehabilitation Centre, Karachi on the basis of purposive sampling technique and 79 from Karachi city on the basis of convenient sampling technique. To measure their perceived paternal acceptance-rejection during childhood, Adult Parental acceptance-rejection questionnaire (PARQ)/control: father-short form (Urdu translation) was administered. The statistical analysis of data was done with the predictive analytics software (PASW). Results: One hundred and forty eight (78 males and 70 females) participants with mean age of 31.28 +- 9.54 years were included. Out of them 69 (40 males and 29 females) were clinical cases of depression, mania and psychosis with mean age of 33.26 +- 9.51 years. Seventy nine (38 males and 41 females) were normal individuals with mean age of 29.54 +- 9.29 years of the demographics corresponding to the clinical population. Independent t-test revealed a significant difference in perceived childhood father acceptance-rejection between clinical and non-clinical population (p < 0.05) and significant gender difference (p < 0.05). Conclusion: The studied clinical population and male participants perceived to be more rejected by their father during their childhood than non-clinical population and female participants. (author)

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia

NARCIS (Netherlands)

Georgitsi, Marianthi; Raitila, Anniina; Karhu, Auli; van der Luijt, Rob B.; Aalfs, Cora M.; Sane, Timo; Vierimaa, Outi; Mäkinen, Markus J.; Tuppurainen, Karoliina; Paschke, Ralph; Gimm, Oliver; Koch, Christian A.; Gündogdu, Sadi; Lucassen, Anneke; Tischkowitz, Marc; Izatt, Louise; Aylwin, Simon; Bano, Gul; Hodgson, Shirley; de Menis, Ernesto; Launonen, Virpi; Vahteristo, Pia; Aaltonen, Lauri A.

2007-01-01

Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two

Paternal occupational exposure to radiofrequency electromagnetic fields and risk of adverse pregnancy outcome

International Nuclear Information System (INIS)

Mjoen, Geir; Saetre, Dag Ottar; Lie, Rolv T.; Tynes, Tore; Blaasaas, Karl Gerhard; Hannevik, Merete; Irgens, Lorentz M.

2006-01-01

Background:During the last decades, public concern that radiofrequency radiation (RFR) may be related to adverse reproductive outcomes has been emerging. Our objective was to assess associations between paternal occupational exposure to RFR and adverse pregnancy outcomes including birth defects using population-based data from Norway.Methods:Data on reproductive outcomes derived from the Medical Birth Registry of Norway were linked with data on paternal occupation derived from the general population censuses. An expert panel categorized occupations according to exposure. Using logistic regression, we analyzed 24 categories of birth defects as well as other adverse outcomes.Results:In the offspring of fathers most likely to have been exposed, increased risk was observed for preterm birth (odds ratio (OR): 1.08, 95% confidence interval (CI): 1.03, 1.15). In this group we also observed a decreased risk of cleft lip (OR: 0.63, 95% CI: 0.41, 0.97). In the medium exposed group, we observed increased risk for a category of ,other defects' (OR: 2.40, 95% CI: 1.22, 4.70), and a decreased risk for a category of ,other syndromes' (OR: 0.75, 95% CI: 0.56, 0.99) and upper gastrointestinal defects (OR: 0.61, 95% CI: 0.40, 0.93).Conclusion:The study is partly reassuring for occupationally exposed fathers

Four pion decay modes of the f0(1500) resonance

International Nuclear Information System (INIS)

Vinh Mau, R.; Strohmeier-Presicek, M.; Gutsche, T.; Faessler, A.

1999-01-01

We investigate the two-body decay modes ρρ, ππ * (1300) and σσ of the f 0 (1500), all leading to the four pion decay channel, in a three-state mixing scheme, where the f 0 (1500) is a mixture of the lowest lying scalar glueball with the nearby isoscalar states of the 0 ++ Q Q-bar nonet. In the leading order of this scheme, the decay mechanism of the f 0 (1500) proceeds dominantly via its quarkonium components, which can be described in the framework of the 3 P 0 pair creation model. We predict the hierarchy of decay branching ratios B with B(ρρ) ≥ B(ππ) ≥ B(σσ) > B(ππ * ), providing a key signature of the proposed mixing scheme in this leading order approach. (authors)

The causal effect of paternal unemployment on children's personality

OpenAIRE

Angelini, Viola; Bertoni, Marco; Corazzini, Luca

2015-01-01

Using longitudinal data from the German Socio-Economic Panel (SOEP), we show that paternal unemployment has a surprisingly positive causal effect on the "Big 5" personality traits of children aged 17 to 25. In particular, our results from longitudinal value-added models for personality suggest that paternal unemployment makes children significantly more conscientious and less neurotic. Our results are robust to different estimation methods and to selection on unobservables. Furthermore, these...

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

Science.gov (United States)

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

2013-01-01

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

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

Directory of Open Access Journals (Sweden)

Jonatan Axelsson

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

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

Science.gov (United States)

Sato, Ken; Sato, Miyuki

2017-10-01

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

Genotype and phenotype spectrum of NRAS germline variants

NARCIS (Netherlands)

Altmuller, F.; Lissewski, C.; Bertola, D.; Flex, E.; Stark, Z.; Spranger, S.; Baynam, G.; Buscarilli, M.; Dyack, S.; Gillis, J.; Yntema, H.G.; Pantaleoni, F.; Loon, R.L. van; MacKay, S.; Mina, K.; Schanze, I.; Tan, T.Y.; Walsh, M.; White, S.M.; Niewisch, M.R.; Garcia-Minaur, S.; Plaza, D.; Ahmadian, M.R.; Cave, H.; Tartaglia, M.; Zenker, M.

2017-01-01

RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly

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

Science.gov (United States)

Månsdotter, Anna; Lindholm, Lars; Winkvist, Anna

2007-06-01

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

PPO.46 Risk of Miscarriage associated with Maternal and Paternal Smoking

NARCIS (Netherlands)

Meaney, S.; Corcoran, P.; Lutomski, J.E.; Spillane, N.; O'Donoghue, K.

2014-01-01

OBJECTIVE: Maternal smoking has been associated with increased risk of miscarriage. However little is known about the influence of paternal smoking. The study aimed to examine maternal and paternal smoking as risk factors for miscarriage. STUDY DESIGN: A cohort study was conducted in a large,

Germline RAD51B truncating mutation in a family with cutaneous melanoma

DEFF Research Database (Denmark)

Wadt, Karin A W; Aoude, Lauren G; Golmard, Lisa

2015-01-01

Known melanoma predisposition genes only account for around 40% of high-density melanoma families. Other rare mutations are likely to play a role in melanoma predisposition. RAD51B plays an important role in DNA repair through homologous recombination, and inactivation of RAD51B has been implicated...... in tumorigenesis. Thus RAD51B is a good candidate melanoma susceptibility gene, and previously, a germline splicing mutation in RAD51B has been identified in a family with early-onset breast cancer. In order to find genetic variants associated with melanoma predisposition, whole-exome sequencing was carried out...... on blood samples from a three-case cutaneous melanoma family. We identified a novel germline RAD51B nonsense mutation, and we demonstrate reduced expression of RAD51B in melanoma cells indicating inactivation of RAD51B. This is only the second report of a germline truncating RAD51B mutation. While...

Development and validation of library MUSE-F1.0

International Nuclear Information System (INIS)

Tang Haibo; Chen Yixue; Wu Jun

2013-01-01

The multi-group transport library MUSE-F1.0 based on ENDF/B-VII.0 with 175-group neutron and 42-group photon was developed by NJOY99. Weighting function is thermal--l/e--fast reactor-fission + fusion, and Legendre order is six. The library was validated by a series of critical and shielding benchmarks. The shielding test involves nuclear data including fission reactor, fusion reactor and accelerator. The result shows that MUSE-F1.0 is suitable for critical and shielding calculation. And it is competent for the application of fast neutron reactor design. (authors)

Contracts and Capabilities: An Evolutionary Perspective on the Autonomy-Paternalism Debate

NARCIS (Netherlands)

S. Deakin (Simon)

2010-01-01

textabstractAn evolutionary conception of contract law is suggested as a basis for assessing claims made in the autonomy-paternalism debate. Paternalism forms one part – although by no means the whole – of a discriminating approach to contract enforcement. Selective enforcement is a long-standing

Experimental study of f0(975) in the J/ψ decays

International Nuclear Information System (INIS)

Bai Jingzhi; Chen Guangpei; Chen Shaomin

1995-01-01

Based on 7.8 x 10 6 J/ψ events collected by the BES at BEPC, through study of the hadronic decays J/ψ→φπ + π - and J/ψ→ωπ + π - , the branching ratios of the processes and the mass positions and the widths of f 0 are obtained. The angular distributions of J/ψ→φf 0 , f 0 →π + π - are fitted and the helicity amplitude ratio of this process is firstly given

Teenage pregnancy and the influence of paternal involvement on fetal outcomes.

Science.gov (United States)

Alio, Amina P; Mbah, Alfred K; Grunsten, Ryan A; Salihu, Hamisu M

2011-12-01

We sought to assess the impact of paternal involvement on adverse birth outcomes in teenage mothers. Using vital records data, we generated odds ratios (OR) and 95% confidence intervals (CI) to assess the association between paternal involvement and fetal outcomes in 192,747 teenage mothers. Paternal involvement status was based on presence/absence of paternal first and/or last name on the birth certificate. Data were obtained from vital records data from singleton births in Florida between 1998 and 2007. The study population consisted of 192,747 teenage mothers ≤ 20 years old with live single births in the State of Florida. Low birth weight, very low birth weight, preterm birth, very preterm birth, small for gestational age (SGA), neonatal death, post-neonatal death, and infant death. Risks of SGA (OR = 1.06; 95% CI: 1.03-1.10), low birth weight (OR = 1.19; 95% CI: 1.15-1.23), very low birth weight (OR = 1.53; 95% CI: 1.41-1.67), preterm birth (OR = 1.21; 95% CI: 1.17-1.25), and very preterm birth (OR = 1.49; 95% CI: 1.38-1.62) were elevated for mothers in the father-absent group. When results were stratified by race, black teenagers in the father-absent group had the highest risks of adverse birth outcomes when compared to white teenagers in the father-involved group. Lack of paternal involvement is a risk factor for adverse birth outcomes among teenage mothers; risks are most pronounced among African-American teenagers. Our findings suggest that increased paternal involvement can have a positive impact on birth outcomes for teenage mothers, which may be important for decreasing the racial disparities in infant morbidities. More studies assessing the impact of greater paternal involvement on birth outcomes are needed. Copyright © 2011 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Shared decision making, paternalism and patient choice.

Science.gov (United States)

Sandman, Lars; Munthe, Christian

2010-03-01

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

Reconstruction of major maternal and paternal lineages of the Cape Muslim population

Directory of Open Access Journals (Sweden)

Shafieka Isaacs

2013-01-01

Full Text Available The earliest Cape Muslims were brought to the Cape (Cape Town -South Africa from Africa and Asia from 1652 to 1834. They were part of an involuntary migration of slaves, political prisoners and convicts, and they contributed to the ethnic diversity of the present Cape Muslim population of South Africa. The history of the Cape Muslims has been well documented and researched however no in-depth genetic studies have been undertaken. The aim of the present study was to determine the respective African, Asian and European contributions to the mtDNA (maternal and Y-chromosomal (paternal gene pool of the Cape Muslim population, by analyzing DNA samples of 100 unrelated Muslim males born in the Cape Metropolitan area. A panel of six mtDNA and eight Y-chromosome SNP markers were screened using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP. Overall admixture estimates for the maternal line indicated Asian (0.4168 and African mtDNA (0.4005 as the main contributors. The admixture estimates for the paternal line, however, showed a predominance of the Asian contribution (0.7852. The findings are in accordance with historical data on the origins of the early Cape Muslims.

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

Science.gov (United States)

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

2016-08-02

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

Chimerism representing both paternal alleles detected by HLA typing before kidney transplantation

DEFF Research Database (Denmark)

Christiansen, Mette; Petersen, Mikkel Steen; Møller, Bjarne Kuno

2014-01-01

trisomy 6p or by chimerism. Flow cytometric analysis, employing antibodies specific for the two paternal HLA-A alleles, clearly showed two distinct populations of cells: 83% expressing HLA-A11 and 12% expressing HLA-A2, suggesting a paternal chimerism. We are studying these cell populations to possibly...... identify the mechanism behind this rather unusual paternally derived chimerism. This exceptional case illustrates that careful scrutiny of HLA-typing results may produce atypical conclusions. Clinically, the father is considered the best donor based on immunogenetics....

Multiple Paternity and Preliminary Population Genetics of Giant Pacific Octopuses, Enteroctopus dofleini, in Oregon, Washington and the Southeast Coast of Vancouver Island, BC

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Shawn Larson

2015-06-01

Full Text Available A total of 77 giant Pacific octopus, Enteroctopus dofleini, tissue samples were collected from the Oregon Coast (OR, Neah Bay Washington (NB, Puget Sound Washington (PS and the southeast coast of Vancouver Island, British Columbia, Canada (BC for genetic analyses. A suite of eight variable microsatellite markers developed from giant Pacific octopuses were amplified in these samples to determine population diversity, structure, relatedness and paternity. The majority of loci met Hardy-Weinberg equilibrium expectations within each population. We found moderate genetic diversity (average observed heterozygosity = 0.445, range = 0.307–0.515 and average expected heterozygosity = 0.567, range = 0.506–0.696 and moderate population structuring with distinct separation of groups (FST values ranged from 0.101 between BC and PS to 0.237 between BC and NB. Several egg strings from the BC population were collected from three female octopus dens for relatedness and paternity analyses. Results suggest strong support for multiple paternity within one egg clutch with progeny sired by between two to four males.

Low birthweight and prematurity in relation to paternal factors

DEFF Research Database (Denmark)

Basso, Olga; Olsen, Jørn; Christensen, Kaare

1999-01-01

BACKGROUND: The importance of paternal determinants in the occurrence of low birthweight and prematurity is not well known. We investigated these outcomes in siblings and paternal half siblings as a function of changes in putative external determinants between two births in fathers who had...... experienced the birth of a premature and/or low birthweight (PTB/LBW) infant. METHODS: All fathers who, between 1980 and 1992, had an infant born before 37 completed weeks' gestation or weighing

The role of germline promoters and I exons in cytokine-induced gene-specific class switch recombination.

Science.gov (United States)

Dunnick, Wesley A; Shi, Jian; Holden, Victoria; Fontaine, Clinton; Collins, John T

2011-01-01

Germline transcription precedes class switch recombination (CSR). The promoter regions and I exons of these germline transcripts include binding sites for activation- and cytokine-induced transcription factors, and the promoter regions/I exons are essential for CSR. Therefore, it is a strong hypothesis that the promoter/I exons regions are responsible for much of cytokine-regulated, gene-specific CSR. We tested this hypothesis by swapping the germline promoter and I exons for the murine γ1 and γ2a H chain genes in a transgene of the entire H chain C-region locus. We found that the promoter/I exon for γ1 germline transcripts can direct robust IL-4-induced recombination to the γ2a gene. In contrast, the promoter/I exon for the γ2a germline transcripts works poorly in the context of the γ1 H chain gene, resulting in expression of γ1 H chains that is level. Nevertheless, the small amount of recombination to the chimeric γ1 gene is induced by IFN-γ. These results suggest that cytokine regulation of CSR, but not the magnitude of CSR, is regulated by the promoter/I exons.

Human mutagens: evidence from paternal exposure

International Nuclear Information System (INIS)

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

Triangle singularity enhancing isospin violation in {\\bar{{\\rm{B}}}}_{{\\rm{s}}}^{0}\\to {\\rm{J}}/{\\rm{\\psi }}{\\pi }^{0}{{\\rm{f}}}_{0}(980)

Science.gov (United States)

Liang, Wei-Hong; Sakai, S.; Xie, Ju-Jun; Oset, E.

2018-04-01

We perform calculations for the {\\bar{{{B}}}}{{s}}0\\to {{J}}/{{\\psi }}{π }0{{{f}}}0(980) and {\\bar{{{B}}}}{{s}}0\\to {{J}}/{{\\psi }}{π }0{{{a}}}0(980) reactions, showing that the first is isospin-suppressed while the second is isospin-allowed. The reaction proceeds via a triangle mechanism, with {\\bar{{{B}}}}{{s}}0\\to {{J}}/{{\\psi }}{{{K}}}{{* }}\\bar{{{K}}}+{{c}}.{{c}}., followed by the decay K* → Kπ and a further fusion of {{K}}\\bar{{{K}}} into the {{{f}}}0(980) or a0(980). We show that the mechanism develops a singularity around the π0 f0(980) or π0 a0(980) invariant mass of 1420 MeV, where the π0 f0 and π0 a0 decay modes are magnified and also the ratio of π0 f0 to π0 a0 production. Using experimental information for the {\\bar{{{B}}}}{{s}}0\\to {{J}}/{{\\psi }}{{{K}}}{{* }}\\bar{{{K}}}+{{c}}.{{c}}. decay, we are able to obtain absolute values for the reactions studied which fall into the experimentally accessible range. The reactions proposed and the observables evaluated, when contrasted with actual experiments, should be very valuable to obtain information on the nature of the low lying scalar mesons. Supported by National Natural Science Foundation of China (11565007, 11747307, 11647309, 11735003, 11475227), the Youth Innovation Promotion Association CAS (2016367). This work is also partly supported by the Spanish Ministerio de Economia y Com- petitividad and European FEDER funds (FIS2011-28853-C02-01, FIS2011-28853-C02-02, FIS2014-57026-REDT, FIS2014-51948-C2-1-P, FIS2014-51948-C2-2-P) and the Generalitat Valenciana in the program Prometeo (II-2014/068)

Germline Hypermethylation of MLH1 and EPCAM Deletions Are a Frequent Cause of Lynch Syndrome

NARCIS (Netherlands)

Niessen, Renee C.; Hofstra, Robert M. W.; Westers, Helga; Ligtenberg, Marjolijn J. L.; Kooi, Krista; Jager, Paul O. J.; de Groote, Marloes L.; Dijkhuizen, Trijnie; Olderode-Berends, Maran J. W.; Hollema, Harry; Kleibeuker, Jan H.; Sijmons, Rolf H.

It was shown that Lynch syndrome can be caused by germline hypermethylation of the MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently that germline deletions of the 3' region of EPCAM cause transcriptional read-through which results in silencing of MSH2 by hypermethylation.

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

NARCIS (Netherlands)

Niessen, R.C.; Hofstra, R.M.; Westers, H.; Ligtenberg, M.J.L.; Kooi, K.; Jager, P.O.; Groote, M.L. de; Dijkhuizen, T.; Olderode-Berends, M.J.; Hollema, H.; Kleibeuker, J.H.; Sijmons, R.H.

2009-01-01

It was shown that Lynch syndrome can be caused by germline hypermethylation of the MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently that germline deletions of the 3' region of EPCAM cause transcriptional read-through which results in silencing of MSH2 by hypermethylation.

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

Science.gov (United States)

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

2015-09-01

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

Germline competence of mouse ES and iPS cell lines: Chimera technologies and genetic background.

Science.gov (United States)

Carstea, Ana Claudia; Pirity, Melinda K; Dinnyes, Andras

2009-12-31

In mice, gene targeting by homologous recombination continues to play an essential role in the understanding of functional genomics. This strategy allows precise location of the site of transgene integration and is most commonly used to ablate gene expression ("knock-out"), or to introduce mutant or modified alleles at the locus of interest ("knock-in"). The efficacy of producing live, transgenic mice challenges our understanding of this complex process, and of the factors which influence germline competence of embryonic stem cell lines. Increasingly, evidence indicates that culture conditions and in vitro manipulation can affect the germline-competence of Embryonic Stem cell (ES cell) lines by accumulation of chromosome abnormalities and/or epigenetic alterations of the ES cell genome. The effectiveness of ES cell derivation is greatly strain-dependent and it may also influence the germline transmission capability. Recent technical improvements in the production of germline chimeras have been focused on means of generating ES cells lines with a higher germline potential. There are a number of options for generating chimeras from ES cells (ES chimera mice); however, each method has its advantages and disadvantages. Recent developments in induced pluripotent stem (iPS) cell technology have opened new avenues for generation of animals from genetically modified somatic cells by means of chimera technologies. The aim of this review is to give a brief account of how the factors mentioned above are influencing the germline transmission capacity and the developmental potential of mouse pluripotent stem cell lines. The most recent methods for generating specifically ES and iPS chimera mice, including the advantages and disadvantages of each method are also discussed.

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

Science.gov (United States)

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

2011-12-01

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

The complete maternally and paternally inherited mitochondrial genomes of the endangered freshwater mussel Solenaia carinatus (Bivalvia: Unionidae and implications for Unionidae taxonomy.

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Xiao-Chen Huang

Full Text Available Doubly uniparental inheritance (DUI is an exception to the typical maternal inheritance of mitochondrial (mt DNA in Metazoa, and found only in some bivalves. In species with DUI, there are two highly divergent gender-associated mt genomes: maternal (F and paternal (M, which transmit independently and show different tissue localization. Solenaia carinatus is an endangered freshwater mussel species exclusive to Poyang Lake basin, China. Anthropogenic events in the watershed greatly threaten the survival of this species. Nevertheless, the taxonomy of S. carinatus based on shell morphology is confusing, and the subfamilial placement of the genus Solenaia remains unclear. In order to clarify the taxonomic status and discuss the phylogenetic implications of family Unionidae, the entire F and M mt genomes of S. carinatus were sequenced and compared with the mt genomes of diverse freshwater mussel species. The complete F and M mt genomes of S. carinatus are 16716 bp and 17102 bp in size, respectively. The F and M mt genomes of S. carinatus diverge by about 40% in nucleotide sequence and 48% in amino acid sequence. Compared to F counterparts, the M genome shows a more compact structure. Different gene arrangements are found in these two gender-associated mt genomes. Among these, the F genome cox2-rrnS gene order is considered to be a genome-level synapomorphy for female lineage of the subfamily Gonideinae. From maternal and paternal mtDNA perspectives, the phylogenetic analyses of Unionoida indicate that S. carinatus belongs to Gonideinae. The F and M clades in freshwater mussels are reciprocal monophyly. The phylogenetic trees advocate the classification of sampled Unionidae species into four subfamilies: Gonideinae, Ambleminae, Anodontinae, and Unioninae, which is supported by the morphological characteristics of glochidia.

Growth of solid solutions with colquiriite structure LiCa0,2Sr0,8AlF6: Ce3+

International Nuclear Information System (INIS)

Shavelev, A A; Nizamutdinov, A S; Semashko, V V; Marisov, M A

2014-01-01

Aim of this work were experiments on growing new materials based on fluoride crystals with the colquiriite structure LiSr 0,8 Ca 0,2 F 6 , as well as the study of their phase composition. It is shown that for a series of crystals LiSr 0,8 Ca 0,2 F 6 distribution of reflections observed corresponds to the colquiriite structure, and the dependence of the lattice constant in the transition from LiCaAlF 6 crystal to LiSrAlF 6 crystal is linear. Also it found that absorption coefficient in mixed samples is much larger than in not mixed

Stronger influence of maternal than paternal obesity on infant and early childhood body mass index: the Fels Longitudinal Study.

Science.gov (United States)

Linabery, A M; Nahhas, R W; Johnson, W; Choh, A C; Towne, B; Odegaard, A O; Czerwinski, S A; Demerath, E W

2013-06-01

also included parental covariates, infant sex, age and birth variables, and interactions with child's age. Infant BMI curves were significantly different across the three maternal BMI categories (Poverall  obese mothers had greater mean BMI at birth and between 1.5 and 3.5 years than those of over- and normal weight mothers (P ≤ 0.02). Average differences between offspring of obese and normal weight mothers were similar at birth (0.8 kg m(-2) , P = 0.0009) and between 2 and 3.5 years (0.7-0.8 kg m(-2) , P obese fathers also had BMI growth curves distinct from those of normal weight fathers (P = 0.02). Infant BMI was more strongly associated with maternal than paternal obesity overall (P maternal BMI has a stronger influence on BMI growth than paternal BMI, suggesting weight control in reproductive age women may be of particular benefit for preventing excess infant BMI. © 2012 The Authors. Pediatric Obesity © 2012 International Association for the Study of Obesity.

Paternal body mass index (BMI is associated with offspring intrauterine growth in a gender dependent manner.

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You-Peng Chen

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

Proposed amendments to the legal proposition on establishment of non-marital paternity from 1855

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Kulauzov Maša M.

2015-01-01

Full Text Available Proposed amendments to the article 130 of Serbian Civil Code (henceforth: SCC of 1844 regarding establishment of non-marital paternity were scrutinized in this paper. Originally, establishment of non-marital paternity was granted, but with significant restriction that presumed parent could have been declared the father of an illegitimate child only if he had recognized paternity. That is the reason why in 1855 the Supreme Court suggested amendment to the provision concerning determination of paternity. According to proposed modification, evidence that presumed father was on intimate terms with child's mother in the time of conception should have been sufficient for establishment of paternity. As non-marital relationships were condemned in patriarchal Serbian 19th century society, illegitimate children were considered a product of sin and family disgrace. Hence, the Ministry of Justice, the State Council and Prince Aleksandar Karađorđević were not interested in bettering their position by widening possibilities of determination of fatherhood. Subsequently, in 1868 the amendment was passed by which non-marital paternity could not have been established by a court order, subject to certain exceptions (if one raped or abducted a woman, and the time of conception coincided with the time of abduction or rape. Since 1868 paternity could have been determined solely subject to the consent, i.e. recognition of the illegitimate father.

Unusual Critical Behavior of the Diluted Uniaxial Dipolar Ferromagnet LiTb0.3Y0.7F4

DEFF Research Database (Denmark)

Seiden, P.; Seiden, J.; Laursen, Ib

1980-01-01

The experimental critical behavior of the susceptibility of LiTb0.3Y0.7F4 is described by the power law χ=Γ[(T-Tc) / Tc]-γ with Tc=0.520±0.003 K and γ=1.80±0.04. This behavior is dramatically different from that previously observed in LiTbF4 and is evidence of a departure from marginal...

[Influence of paternal age in schizophrenia].

Science.gov (United States)

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

2011-06-01

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

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

Science.gov (United States)

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

2011-12-01

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

Religion, Convention, and Paternal Involvement.

Science.gov (United States)

Wilcox, W. Bradford

2002-01-01

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

Superconductivity in REO0.5F0.5BiS2 with high-entropy-alloy-type blocking layers

Science.gov (United States)

Sogabe, Ryota; Goto, Yosuke; Mizuguchi, Yoshikazu

2018-05-01

We synthesized new REO0.5F0.5BiS2 (RE: rare earth) superconductors with high-entropy-alloy-type (HEA-type) REO blocking layers. The lattice constant a systematically changed in the HEA-type samples with the RE concentration and the RE ionic radius. A sharp superconducting transition was observed in the resistivity measurements for all the HEA-type samples, and the transition temperature of the HEA-type samples was higher than that of typical REO0.5F0.5BiS2. The sharp superconducting transition and the enhanced superconducting properties of the HEA-type samples may indicate the effectiveness of the HEA states of the REO blocking layers in the REO0.5F0.5BiS2 system.

The age-related patterns of preterm birth among urban African-American and non-Latina White mothers: The effect of paternal involvement.

Science.gov (United States)

Hibbs, Shayna D; Rankin, Kristin M; DeSisto, Carla; Collins, James W

2018-05-30

Few studies have examined contributions of paternal factors to birth outcomes. Weathering is a pattern of increasing rates of adverse birth outcome with increasing maternal age. This study evaluates for an association between paternal involvement and weathering in the context of preterm birth (PTB, poverty. Using the Illinois transgenerational dataset with appended US census income information of infants (1989-1991) and their mothers (1956-1976), we compared infants of women by degree of paternal involvement: married, unmarried with father named on birth certificate, and unnamed father. Data were stratified by maternal residence in higher or lower income neighborhoods at both the time of mothers' birth and infants' birth, estimating maternal lifelong economic context. We computed race-specific PTB rates according to maternal age, lifelong neighborhood income, and paternal involvement. We calculated Mantel-Haenszel chi-square tests of linear trend from contingency tables to evaluate weathering. Among African-Americans (n = 39,991) with unnamed fathers and lifelong residence in lower income neighborhoods, PTB rate was lowest among teens at 18.8%, compared to 21.5% for 30-35 year-old mothers (p for linear trend rate among teens was 16%, compared to 25% for 30-35 year-old mothers (p = 0.21). Among married African-Americans with lifelong residence in lower income neighborhoods, PTB rate among teens was 16.4%, compared to 12.5% for 30-35 year-old mothers (p = 0.79). Among married African-Americans with lifelong residence in higher income neighborhoods, PTB rate among teens was 20%, compared to 11.4% for 30-35 year-old mothers (p = 0.40). White mothers (n = 31,981) did not demonstrate weathering, regardless of paternal involvement and neighborhood poverty. We conclude that weathering was not seen among married African-Americans, independent of neighborhood income, suggesting a potentially protective mechanism associated with paternal involvement

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

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Sofia Nora

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

Paternal age at birth is associated with offspring leukocyte telomere length in the nurses' health study.

Science.gov (United States)

Prescott, J; Du, M; Wong, J Y Y; Han, J; De Vivo, I

2012-12-01

current analysis was limited to healthy controls. We also included existing LTL data from a small random sample of women participating in a cognitive sub-study. LTL was measured using the quantitative PCR-based method. Exposure and covariate information are extracted from biennial questionnaires completed by the participants. We found a strong association between paternal age at birth and participant LTL (P = 1.6 × 10(-5)) that remained robust after controlling for indicators of early life SES. Maternal age at birth showed a weak inverse association with participant LTL after adjusting for age at blood collection and paternal age at birth (P = 0.01). We also noted a stronger association between paternal age at birth and participant LTL among premenopausal than among postmenopausal women (P(interaction) = 0.045). However, this observation may be due to chance as premenopausal women represented only 12.6% (N = 535) of the study population and LTL was not correlated with age at menopause, total or estrogen-only hormone therapy (HT) use suggesting that changes in in vivo estrogen exposure do not influence telomere length regulation. The women in our study are not representative of the general US female population, with an underrepresentation of non-white and low social class groups. Although the interaction was not significant, we noted that the paternal age at birth association with offspring LTL appeared weaker among women whose parents did not own their home at the time of the participant's birth. As telomere dynamics may differ among individuals who are most socioeconomically deprived, SES indicators may have more of an influence on the relationship between paternal age at birth and offspring LTL in such populations. As of yet, our and prior studies have not identified childhood or adult characteristics that confound the paternal age at birth association with offspring LTL, supporting the hypothesis that offspring may inherit the longer telomeres found in sperm of older

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

Science.gov (United States)

Haskins, Anna R

2016-12-07

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

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

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

2014-06-01

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

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

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Haskins, Anna R.

2017-01-01

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

Angular dependent torque measurements on CaFe0.88Co0.12AsF

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Xiao, H.; Gao, B.; Ma, Y. H.; Li, X. J.; Mu, G.; Hu, T.

2016-08-01

Out-of-plane angular dependent torque measurements were performed on CaFe0.88Co0.12AsF (Ca1 1 1 1) single crystals. In the normal state, the torque data shows \\sin 2θ angular dependence and H 2 magnetic field dependence, as a result of paramagnetism. In the mixed state, the torque signal is a combination of the vortex torque and paramagnetic torque, and the former allows the determination of the anisotropy parameter γ. At T   =  11.5 K, γ (11.5 K ≃ 0.5 T c)  =  19.1, which is similar to the result of SmFeAsO0.8F0.2, γ ≃ 23 at T≃ 0.4{{T}\\text{c}} . So the 11 1 1 is more anisotropic compared to 11 and 122 families of iron-based superconductors. This may suggest that the electronic coupling between layers in 1 1 1 1 is less effective than in 11 and 122 families.

Tissue-Specific Contributions of Paternally Expressed Gene 3 in Lactation and Maternal Care of Mus musculus.

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Wesley D Frey

Full Text Available Paternally Expressed Gene 3 (Peg3 is an imprinted gene that controls milk letdown and maternal-caring behaviors. In this study, a conditional knockout allele has been developed in Mus musculus to further characterize these known functions of Peg3 in a tissue-specific manner. The mutant line was first crossed with a germline Cre. The progeny of this cross displayed growth retardation phenotypes. This is consistent with those seen in the previous mutant lines of Peg3, confirming the usefulness of the new mutant allele. The mutant line was subsequently crossed individually with MMTV- and Nkx2.1-Cre lines to test Peg3's roles in the mammary gland and hypothalamus, respectively. According to the results, the milk letdown process was impaired in the nursing females with the Peg3 mutation in the mammary gland, but not in the hypothalamus. This suggests that Peg3's roles in the milk letdown process are more critical in the mammary gland than in the hypothalamus. In contrast, one of the maternal-caring behaviors, nest-building, was interrupted in the females with the mutation in both MMTV- and Nkx2.1-driven lines. Overall, this is the first study to introduce a conditional knockout allele of Peg3 and to further dissect its contribution to mammalian reproduction in a tissue-specific manner.

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

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

2015-02-01

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

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

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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:…

Individual variation in paternal responses of virgin male California mice (Peromyscus californicus): behavioral and physiological correlates

NARCIS (Netherlands)

de Jong, T.R.; Korosi, A.; Harris, B.N.; Perea-Rodriguez, J.P.; Saltzman, W.

2012-01-01

California mice Peromyscus californicus are a rodent species in which fathers provide extensive paternal care; however, behavioral responses of virgin males toward conspecific neonates vary from paternal behavior to tolerance to infanticide. Indirect evidence suggests that paternal responses might

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

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

2013-01-01

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

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

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

2014-03-01

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

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

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

2014-01-01

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

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

Science.gov (United States)

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

2014-01-01

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

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

Directory of Open Access Journals (Sweden)

Debby Tsuang

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

Testosterone and paternal care in East African foragers and pastoralists

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

2008-01-01

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

Analysis of the cytoskeleton organization and its possible functions in male earthworm germ-line cysts equipped with a cytophore.

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Małota, Karol; Świątek, Piotr

2016-10-01

We studied the organization of F-actin and the microtubular cytoskeleton in male germ-line cysts in the seminal vesicles of the earthworm Dendrobaena veneta using light, fluorescent and electron microscopy along with both chemically fixed tissue and life cell imaging. Additionally, in order to follow the functioning of the cytoskeleton, we incubated the cysts in colchicine, nocodazole, cytochalasin D and latrunculin A. The male germ-line cells of D. veneta are interconnected via stable intercellular bridges (IB), and form syncytial cysts. Each germ cell has only one IB that connects it to the anuclear central cytoplasmic mass, the cytophore. During the studies, we analyzed the cytoskeleton in spermatogonial, spermatocytic and spermatid cysts. F-actin was detected in the cortical cytoplasm and forms distinct rings in the IBs. The arrangement of the microtubules changed dynamically during spermatogenesis. The microtubules are distributed evenly in whole spermatogonial and spermatocytic cysts; however, they primarily accumulate within the IBs in spermatogonia. In early spermatids, microtubules pass through the IBs and are present in whole cysts. During spermatid elongation, the microtubules form a manchette while they are absent in the cytophore and in the IBs. Use of cytoskeletal drugs did not alter the general morphology of the cysts. Detectable effects-the occurrence of nuclei in the late spermatids and manchette fragments in the cytophore-were observed only after incubation in nocodazole. Our results suggest that the microtubules are responsible for cytoplasmic/organelle transfer between the germ cells and the cytophore during spermatogenesis and for the positioning of the spermatid nuclei.

Unconventional superconductivity in CaFe0.85Co0.15AsF evidenced by torque measurements

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Xiao, Hong; Li, X. J.; Mu, G.; Hu, T.

Out-of-plane angular dependent torque measurements were performed on CaFe0.85Co0.15AsF single crystals. Abnormal superconducting fluctuation, featured by enhanced diamagnetism with magnetic field, is detected up to about 1.5 times superconducting transition temperature Tc. Compared to cuprate superconductors, the fluctuation effect in iron-based superconductor is less pronounced. Anisotropy parameter γ is obtained from the mixed state torque data and it is found that γ shows both magnetic field and temperature depenence, pointing to multiband superconductivity. The temperature dependence of penetration depth λ (T) suggests unconventional superconductivity in CaFe0.85Co0.15AsF.

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

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

2012-01-01

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

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

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Chih-Chiang Wu

2012-01-01

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

Pou4f2 knock-in Cre mouse: A multifaceted genetic tool for vision researchers.

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Simmons, Aaron B; Bloomsburg, Samuel J; Billingslea, Samuel A; Merrill, Morgan M; Li, Shuai; Thomas, Marshall W; Fuerst, Peter G

2016-01-01

A transgenic mouse that expresses Cre recombinase under control of the Pou4f2-promoter (also referred to as Brn-3b and Brn-3.2) was characterized. Pou4f2 expression has been reported in a subset of retinal ganglion cells (RGCs) in the retina, in the midbrain, and in the germline. In this study, we characterize the expression pattern of this Cre-recombinase line and report its utility in targeted deletion, temporal deletion, RGC depletion, and germline targeting, which can be regulated by the sex of the Cre-carrying mouse. Pou4f2(Cre) was mapped by using a combination of PCR and sequencing of PCR products to better understand the construct and to locate where it was inserted within the Pou4f2 locus. Cre expression patterns were examined by crossing Pou4f2(Cre/+) mice to Cre reporter mice. Immunohistochemistry was used to further define the pattern of Cre expression and Cre-mediated recombination within the retina, brain, and other tissues. An internal ribosome entry site (IRES)-Cre cassette was inserted into the Pou4f2 gene disrupting normal gene function, as verified by the depletion of RGCs in mice homozygous for the insert. Pou4f2(Cre) expression was observed in the retina, brain, peripheral neurons, and male germ cells. Germline recombination was observed when the sire carried the Cre and the target for recombination. In all other breeding schemes, recombination was observed within subsets of cells within the retina, brain, intestines, heart, and gonads. In the retina, Cre efficiently targets recombination in neurons within the RGC layer (RGL), the inner nuclear layer (INL), and a small percentage of photoreceptors, activity that has not been previously reported. Unlike most other Cre lines active in the inner retina, recombination in Müller and other glia was not observed in mice carrying Pou4f2(Cre) . Within the visual centers of the brain, Cre targets recombination in about 15% of cells within the superchiasmatic nucleus, lateral geniculate nucleus, and

Paternal Pregnancy Intention and Breastfeeding Duration: Findings from the National Survey of Family Growth.

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Wallenborn, Jordyn T; Masho, Saba W; Ratliff, Scott

2017-03-01

Objectives Despite the benefits of breastfeeding, less than a fifth of American mothers breastfeed for the recommended duration. Paternal support plays a major role in maternal and child health outcomes; however, the influence of paternal pregnancy intention on breastfeeding duration is under investigated. This study examines the relationship between fathers' pregnancy intention and breastfeeding duration. Methods Data from the 2011-2013 National Survey of Family Growth were analyzed using cross-sectional methodology. Women who were pregnant, never received medical help to become pregnant, whose partner was aged 18-49 years, and who responded to questions related to paternal pregnancy intention and breastfeeding were included in the analysis (N = 2089). Multinomial logistic regression, odds ratios and 95 % confidence intervals were calculated. There was a statistically significant interaction between father's age and father's pregnancy intention (P = 0.0385) and all models were stratified by paternal age. Results Fathers aged 18-24 years with a mistimed pregnancy were 2.3 times more likely to have a child who was never breastfed, (AOR 2.27, 95 % CI 1.39-3.70) and 1.7 times more likely to have a child who was breastfed 6 months or less (AOR 1.69, 95 % CI 1.28-2.23) compared to fathers with an intended pregnancy. No statistically significant association was observed among fathers aged 25-49 years. Conclusion Findings from this study show a relationship between mistimed pregnancies and breastfeeding duration among younger fathers. Healthcare professionals should develop breastfeeding interventions targeting fathers and young families.

A Study of the Hadronic Production of $D^0$ and $\\overline{D}\\,{^0}$ Mesons: $x_F$ and $p_t$ Distributions

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de Mello Neto, Joao Torres [Rio de Janeiro, CBPF

1992-04-01

Using a 250 Ge V hadron beam incident on thin targets foils of Be, Al, Cu and W, the $x_F$ and $p_t$ distributions of $D^0$ and $\\bar{D}^0$ were measured from Fermilab experiment E769 using the decay mode $D^0 \\to K^- \\pi^+$ and c.c. The measurements were made with the $\\pi^-$ induced sample, 607 ± 29 events. Fitting the $x_F$ distribution to (1- $x_F)^{\\eta}$ it was measured $\\eta$ = 3.86 ± 0.25 ± 0.10 for $D0/\\bar{D}^0$ , $\\eta$ = 3.89 ± 0.40 for $D^0$ and $\\eta$ = 3.74 ± 0.34 for $\\bar{D}^0$ • Fitting the $p^2_t$ distribuition to exp $bp^2_t$;, it was measured $b$ = 1.05 ± 0.06 ± 0.02 for $DO/\\bar{D}^0$ $b$ = 1.12 ± 0.09 for $D^0$ and $b$ = 1.00 ± 0.07 for $\\bar{D}^0$. The $x_F$ distribution is consistent with the perturbative QCD calculations.

Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.

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Frebourg, T; Kassel, J; Lam, K T; Gryka, M A; Barbier, N; Andersen, T I; Børresen, A L; Friend, S H

1992-07-15

Germ-line mutations in the p53 tumor suppressor gene have been observed in patients with Li-Fraumeni syndrome, brain tumors, second malignancies, and breast cancers. It is unclear whether all of these mutations have inactivated p53 and thereby provide an increased risk for cancer. Therefore, it is necessary to establish the biological significance of these germ-line mutations by the functional and structural analysis of the resulting mutant p53 proteins. We analyzed the ability of seven germ-line mutant proteins observed in patients with Li-Fraumeni syndrome, second primary neoplasms, or familial breast cancer to block the growth of malignant cells and compared the structural properties of the mutant proteins to that of the wild-type protein. Six of seven missense mutations disrupted the growth inhibitory properties and structure of the wild-type protein. One germ-line mutation retained the features of the wild-type p53. Genetic analysis of the breast cancer family in which this mutation was observed indicated that this germ-line mutation was not associated with the development of cancer. These results demonstrate that germ-line p53 mutations observed in patients with Li-Fraumeni syndrome and with second malignancies have inactivated the p53 tumor suppressor gene. The inability of the germ-line p53 mutants to block the growth of malignant cells can explain why patients with these germ-line mutations have an increased risk for cancer. The observation of a functionally silent germ-line mutation indicates that, before associating a germ-line tumor suppressor gene mutation with cancer risk, it is prudent to consider its functional significance.

Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.

Science.gov (United States)

Frebourg, T; Kassel, J; Lam, K T; Gryka, M A; Barbier, N; Andersen, T I; Børresen, A L; Friend, S H

1992-01-01

Germ-line mutations in the p53 tumor suppressor gene have been observed in patients with Li-Fraumeni syndrome, brain tumors, second malignancies, and breast cancers. It is unclear whether all of these mutations have inactivated p53 and thereby provide an increased risk for cancer. Therefore, it is necessary to establish the biological significance of these germ-line mutations by the functional and structural analysis of the resulting mutant p53 proteins. We analyzed the ability of seven germ-line mutant proteins observed in patients with Li-Fraumeni syndrome, second primary neoplasms, or familial breast cancer to block the growth of malignant cells and compared the structural properties of the mutant proteins to that of the wild-type protein. Six of seven missense mutations disrupted the growth inhibitory properties and structure of the wild-type protein. One germ-line mutation retained the features of the wild-type p53. Genetic analysis of the breast cancer family in which this mutation was observed indicated that this germ-line mutation was not associated with the development of cancer. These results demonstrate that germ-line p53 mutations observed in patients with Li-Fraumeni syndrome and with second malignancies have inactivated the p53 tumor suppressor gene. The inability of the germ-line p53 mutants to block the growth of malignant cells can explain why patients with these germ-line mutations have an increased risk for cancer. The observation of a functionally silent germ-line mutation indicates that, before associating a germ-line tumor suppressor gene mutation with cancer risk, it is prudent to consider its functional significance. Images PMID:1631137

Proven germline mosaicism in a father of two children with CHARGE syndrome.

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Pauli, S; Pieper, L; Häberle, J; Grzmil, P; Burfeind, P; Steckel, M; Lenz, U; Michelmann, H W

2009-05-01

CHARGE syndrome is an autosomal dominant malformation syndrome caused by mutations in the CHD7 gene. The majority of cases are sporadic and only few familial cases have been reported. In these families, mosaicism in one parent, as well as parent- to-child transmission of a CHD7 mutation, has been described. In some further cases, germline mosaicism has been suggested. Here, we report the first case in which germline mosaicism could be demonstrated in a father of two affected children with CHARGE syndrome. The truncating mutation c.7302dupA in exon 34 of the CHD7 gene was found in both affected children but was not detected in parental lymphocytes. However, in DNA extracted from the father's spermatozoa, the c.7302dupA mutation could be identified. Furthermore, mutation analysis of DNA isolated from 59 single spermatozoa revealed that the c.7302dupA mutation occurs in 16 spermatozoa, confirming germline mosaicism in the father of the affected children. This result has a high impact for genetic counselling of the family and for their recurrence risk in further pregnancies.

Molecular evidence for extra-pair paternity and intraspecific brood parasitism in the Black-headed Gull

Czech Academy of Sciences Publication Activity Database

Ležalová-Piálková, Radka

2011-01-01

Roč. 152, č. 2 (2011), s. 291-295 ISSN 0021-8375 Institutional research plan: CEZ:AV0Z60930519 Keywords : Black-headed Gull * genetic mating system * extra-pair paternity * intraspecific brood parasitism Subject RIV: EG - Zoology Impact factor: 1.636, year: 2011

The protein kinase MBK-1 contributes to lifespan extension in daf-2 mutant and germline-deficient Caenorhabditis elegans.

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Mack, Hildegard I D; Zhang, Peichuan; Fonslow, Bryan R; Yates, John R

2017-05-25

In Caenorhabditis elegans , reduction of insulin/IGF-1 like signaling and loss of germline stem cells both increase lifespan by activating the conserved transcription factor DAF-16 (FOXO). While the mechanisms that regulate DAF-16 nuclear localization in response to insulin/IGF-1 like signaling are well characterized, the molecular pathways that act in parallel to regulate DAF-16 transcriptional activity, and the pathways that couple DAF-16 activity to germline status, are not fully understood at present. Here, we report that inactivation of MBK-1, the C. elegans ortholog of the human FOXO1-kinase DYRK1A substantially shortens the prolonged lifespan of daf-2 and glp-1 mutant animals while decreasing wild-type lifespan to a lesser extent. On the other hand, lifespan-reduction by mutation of the MBK-1-related kinase HPK-1 was not preferential for long-lived mutants. Interestingly, mbk-1 loss still allowed for DAF-16 nuclear accumulation but reduced expression of certain DAF-16 target genes in germline-less, but not in daf-2 mutant animals. These findings indicate that mbk-1 and daf-16 functionally interact in the germline- but not in the daf-2 pathway. Together, our data suggest mbk-1 as a novel regulator of C. elegans longevity upon both, germline ablation and DAF-2 inhibition, and provide evidence for mbk-1 regulating DAF-16 activity in germline-deficient animals.

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

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Shufen Xing

2017-10-01

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

Human germline gene editing: Recommendations of ESHG and ESHRE

NARCIS (Netherlands)

de Wert, Guido; Pennings, Guido; Clarke, Angus; Eichenlaub-Ritter, Ursula; van El, Carla G.; Forzano, Francesca; Goddijn, Mariëtte; Heindryckx, Björn; Howard, Heidi C.; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Tarlatzis, Basil C.; Cornel, Martina C.

2018-01-01

Technological developments in gene editing raise high expectations for clinical applications, first of all for somatic gene editing but in theory also for germline gene editing (GLGE). GLGE is currently not allowed in many countries. This makes clinical applications in these countries impossible

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

Science.gov (United States)

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.

Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population

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Karina Miranda Santiago

2015-04-01

Full Text Available Xeroderma pigmentosum (XP is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazilian patients have been reported to carry a germline mutation in this gene. In this study, the germline mutational status of XPA was determined in Brazilian patients exhibiting major clinical features of XP syndrome. The study was conducted on 27 unrelated patients from select Brazilian families. A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter was identified in only one patient with a history of neurological impairment and mild skin abnormalities. These findings suggest that XP syndrome is rarely associated with inherited disease-causing XPA mutations in the Brazilian population. Additionally, this report demonstrates the effectiveness of genotype-phenotype correlation as a valuable tool to guide direct genetic screening.

Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.

Science.gov (United States)

Santiago, Karina Miranda; França de Nóbrega, Amanda; Rocha, Rafael Malagoli; Rogatto, Silvia Regina; Achatz, Maria Isabel

2015-04-22

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by DNA repair defects that cause photophobia, sunlight-induced cancers, and neurodegeneration. Prevalence of germline mutations in the nucleotide excision repair gene XPA vary significantly in different populations. No Brazilian patients have been reported to carry a germline mutation in this gene. In this study, the germline mutational status of XPA was determined in Brazilian patients exhibiting major clinical features of XP syndrome. The study was conducted on 27 unrelated patients from select Brazilian families. A biallelic inactivating transition mutation c.619C>T (p.Arg207Ter) was identified in only one patient with a history of neurological impairment and mild skin abnormalities. These findings suggest that XP syndrome is rarely associated with inherited disease-causing XPA mutations in the Brazilian population. Additionally, this report demonstrates the effectiveness of genotype-phenotype correlation as a valuable tool to guide direct genetic screening.

45 CFR 303.5 - Establishment of paternity.

Science.gov (United States)

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, and...

Influence of paternal 252Cf neutron exposure on abnormal sperm, embryonal lethality, and liver tumorigenesis in the F1 offspring of mice

International Nuclear Information System (INIS)

Watanabe, Hiromitsu; Takahashi, Tadateru; Lee, Juing-Yi

1996-01-01

Experiments were conducted to determine whether neutron-induced genetic damage in parental germline cells can lead to the development of cancer in the offspring. Seven-week-old C3H male mice were irradiated with 252 Cf neutrons at a dose of 0, 50, 100, or 200 cGy. Two weeks or 3 months after irradiation, the male mice were mated with virgin 9-week-old C57BL females. Two weeks after irradiation, the irradiated male mice showed an increased incidence of sperm abnormalities, which led to embryo lethalities in a dose-dependent manner when they were mated with unirradiated female mice. Furthermore, liver tumors in male offspring of male mice in the 50 cGy group were significantly increased in 19 of 44 (43.2%) animals, in clear contrast to the unirradiated group (1 of 31; 3.2%) (P 1 generation may be caused by genetic transmission of hepatoma-associated trait (s) induced by 252 Cf neutron irradiation. (author)

Germline TERT promoter mutations are rare in familial melanoma

DEFF Research Database (Denmark)

Harland, Mark; Petljak, Mia; Robles-Espinoza, Carla Daniela

2016-01-01

Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP, POT1), have also been implicated in melanomagenesis. Mutation of the promoter of the telomerase reverse transcriptase (TERT) gene (c.-57...... T>G variant) has been reported in one family. We tested for the TERT promoter variant in 675 multicase families wild-type for the known high penetrance familial melanoma genes, 1863 UK population-based melanoma cases and 529 controls. Germline lymphocyte telomere length was estimated in carriers....... The c.-57 T>G TERT promoter variant was identified in one 7-case family with multiple primaries and early age of onset (earliest, 15 years) but not among population cases or controls. One family member had multiple primary melanomas, basal cell carcinomas and a bladder tumour. The blood leukocyte...

A study of the efficacy of fathers’ attachment training on paternal-fetal attachment and parental anxiety

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Sara Setodeh

2017-12-01

Full Text Available Background . Attachment behaviors play an important role in accepting the identity of the fathers, the pleasant outcome of pregnancy and the child’s growth and development in the future. Objectives . This study aimed to investigate the effect of father’s attachment training (awaiting a child on paternal-fetal attachment and parental anxiety. Material and methods . This clinical trial was conducted on 150 spouses of eligible pregnant women. In the intervention group, four 90-minute training sessions were designed on maternal-fetal attachment, while the control group received routine prenatal care. The questionnaire of paternal-fetal attachment was completed both before and after intervention in both cases and control groups. Data analysis was done in SPSS software using a paired t-test and independent t-test (the significant level was 0.05. Results . The mean score of attachment was reported as 56.61 ± 6.05 and 64.53 ± 6.94 both before and after intervention, respectively. According to the paired t-test, there was a significant difference in the attachment score after intervention (p < 0.001. According to the independent t-test applied a month after intervention, the comparison of fathers’ anxiety scores before and after intervention showed a significant difference between the control and intervention groups (p < 0.001. Conclusions . Training fathers about attachment skills leads to increased paternal-fetal attachment and a lower anxiety score. Therefore, it seems necessary to include education of fathers in prenatal care.

Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study.

NARCIS (Netherlands)

Desrosiers, T.A.; Herring, A.H.; Shapira, S.K.; Hooiveld, M.; Luben, T.J.; Herdt-Losavio, M.L.; Lin, S.; Olshan, A.F.

2012-01-01

Objectives: Several epidemiological studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, the authors investigated the association between paternal occupation

Epigenetic modulation of cancer-germline antigen gene expression in tumorigenic human mesenchymal stem cells: implications for cancer therapy

DEFF Research Database (Denmark)

Gjerstorff, Morten; Burns, Jorge S; Nielsen, Ole

2009-01-01

Cancer-germline antigens are promising targets for cancer immunotherapy, but whether such therapies will also eliminate the primary tumor stem cell population remains undetermined. We previously showed that long-term cultures of telomerized adult human bone marrow mesenchymal stem cells can...... spontaneously evolve into tumor-initiating, mesenchymal stem cells (hMSC-TERT20), which have characteristics of clinical sarcoma cells. In this study, we used the hMSC-TERT20 tumor stem cell model to investigate the potential of cancer-germline antigens to serve as tumor stem cell targets. We found...... of cancer-germline antigens in hMSC-TERT20 cells, while their expression levels in primary human mesenchymal stem cells remained unaffected. The expression pattern of cancer-germline antigens in tumorigenic mesenchymal stem cells and sarcomas, plus their susceptibility to enhancement by epigenetic...

Large-scale parent–child comparison confirms a strong paternal influence on telomere length

OpenAIRE

Nordfjäll, Katarina; Svenson, Ulrika; Norrback, Karl-Fredrik; Adolfsson, Rolf; Roos, Göran

2009-01-01

Telomere length is documented to have a hereditary component, and both paternal and X-linked inheritance have been proposed. We investigated blood cell telomere length in 962 individuals with an age range between 0 and 102 years. Telomere length correlations were analyzed between parent–child pairs in different age groups and between grandparent–grandchild pairs. A highly significant correlation between the father's and the child's telomere length was observed (r=0.454, P

Stem cells are units of natural selection for tissue formation, for germline development, and in cancer development.

Science.gov (United States)

Weissman, Irving L

2015-07-21

It is obvious that natural selection operates at the level of individuals and collections of individuals. Nearly two decades ago we showed that in multi-individual colonies of protochordate colonial tunicates sharing a blood circulation, there exists an exchange of somatic stem cells and germline stem cells, resulting in somatic chimeras and stem cell competitions for gonadal niches. Stem cells are unlike other cells in the body in that they alone self-renew, so that they form clones that are perpetuated for the life of the organism. Stem cell competitions have allowed the emergence of competitive somatic and germline stem cell clones. Highly successful germline stem cells usually outcompete less successful competitors both in the gonads of the genotype partner from which they arise and in the gonads of the natural parabiotic partners. Therefore, natural selection also operates at the level of germline stem cell clones. In the colonial tunicate Botryllus schlosseri the formation of natural parabionts is prevented by a single-locus highly polymorphic histocompatibility gene called Botryllus histocompatibility factor. This limits germline stem cell predation to kin, as the locus has hundreds of alleles. We show that in mice germline stem cells compete for gonad niches, and in mice and humans, blood-forming stem cells also compete for bone marrow niches. We show that the clonal progression from blood-forming stem cells to acute leukemias by successive genetic and epigenetic events in blood stem cells also involves competition and selection between clones and propose that this is a general theme in cancer.

Multiple song features are related to paternal effort in common nightingales.

Science.gov (United States)

Bartsch, Conny; Weiss, Michael; Kipper, Silke

2015-06-18

Sexual ornamentation may be related to the degree of paternal care and the 'good-parent' model predicts that male secondary characters honestly advertise paternal investment. In most birds, males are involved in bringing up the young and successful reproduction highly depends on male contribution during breeding. In passerines, male song is indicative of male attributes and for few species it has been shown that song features also signal paternal investment to females. Males of nightingales Luscinia megarhynchos are famous for their elaborate singing but so far there is only little knowledge on the role of male song in intersexual communication, and it is unknown whether male song predicts male parenting abilities. Using RFID technology to record male feeding visits to the nest, we found that nightingale males substantially contribute to chick feeding. Also, we analyzed male nocturnal song with focus on song features that have been shown to signal male quality before. We found that several song features, namely measures of song complexity and song sequencing, were correlated with male feeding rates. Moreover, the combination of these song features had strong predictive power for male contribution to nestling feeding. Since male nightingales are involved in chick rearing, paternal investment might be a crucial variable for female mate choice in this species. Females may assess future paternal care on the basis of song features identified in our study and thus these features may have evolved to signal direct benefits to females. Additionally we underline the importance of multiple acoustic cues for female mating decisions especially in species with complex song such as the nightingale.

Von Hippel-Lindau (VHL inactivation in sporadic clear cell renal cancer: associations with germline VHL polymorphisms and etiologic risk factors.

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Lee E Moore

2011-10-01

Full Text Available Renal tumor heterogeneity studies have utilized the von Hippel-Lindau VHL gene to classify disease into molecularly defined subtypes to examine associations with etiologic risk factors and prognosis. The aim of this study was to provide a comprehensive analysis of VHL inactivation in clear cell renal tumors (ccRCC and to evaluate relationships between VHL inactivation subgroups with renal cancer risk factors and VHL germline single nucleotide polymorphisms (SNPs. VHL genetic and epigenetic inactivation was examined among 507 sporadic RCC/470 ccRCC cases using endonuclease scanning and using bisulfite treatment and Sanger sequencing across 11 CpG sites within the VHL promoter. Case-only multivariate analyses were conducted to identify associations between alteration subtypes and risk factors. VHL inactivation, either through sequence alterations or promoter methylation in tumor DNA, was observed among 86.6% of ccRCC cases. Germline VHL SNPs and a haplotype were associated with promoter hypermethylation in tumor tissue (OR = 6.10; 95% CI: 2.28-16.35, p = 3.76E-4, p-global = 8E-5. Risk of having genetic VHL inactivation was inversely associated with smoking due to a higher proportion of wild-type ccRCC tumors [former: OR = 0.70 (0.20-1.31 and current: OR = 0.56 (0.32-0.99; P-trend = 0.04]. Alteration prevalence did not differ by histopathologic characteristics or occupational exposure to trichloroethylene. ccRCC cases with particular VHL germline polymorphisms were more likely to have VHL inactivation through promoter hypermethylation than through sequence alterations in tumor DNA, suggesting that the presence of these SNPs may represent an example of facilitated epigenetic variation (an inherited propensity towards epigenetic variation in renal tissue. A proportion of tumors from current smokers lacked VHL alterations and may represent a biologically distinct clinical entity from inactivated cases.

The relative cueing power of F0 and duration in German prominence perception

DEFF Research Database (Denmark)

Niebuhr, Oliver; Winkler, Jana

2017-01-01

hierarchy further by putting numbers on the interplay of duration and F0. German listeners indirectly judged through lexical identification the relative prominence levels of two neighboring syllables. Results show that an increase in F0 of between 0.49 and 0.76 st is required to outweigh the prominence...... effect of a 30% increase in duration of a neighboring syllable. These numbers are fairly stable across a large range of absolute F0 and duration levels and hence useful in speech technology....

Probing spin dynamics and quantum relaxation in Li Y0.998 Ho0.002 F4 via 19F NMR

Science.gov (United States)

Graf, M. J.; Lascialfari, A.; Borsa, F.; Tkachuk, A. M.; Barbara, B.

2006-01-01

We report measurements of F19 nuclear spin-lattice relaxation 1/T1 as a function of temperature and external magnetic field in a LiY0.998Ho0.002F4 single crystal, a single-ion magnet exhibiting interesting quantum effects. The F19 1/T1 is found to depend on the coupling with the diluted rare-earth (RE) moments, making it an effective probe of the rare-earth spin dynamics. The results for 1/T1 show a behavior similar to that observed in molecular nanomagnets, a result which we attribute to the discreteness of the energy levels in both cases. At intermediate temperatures the lifetime broadening of the crystal field split RE magnetic levels follows a T3 power law. At low temperature the field dependence of 1/T1 shows peaks in correspondence to the critical magnetic fields for energy level crossings (LC). A key result of this study is that the broadening of the levels at LC is found to become extremely small at low temperatures, about 1.7mT , a value which is comparable to the weak dipolar fields at the RE lattice positions. Thus, unlike the molecular magnets, decoherence effects are strongly suppressed, and it may be possible to measure directly the level repulsions at avoided level crossings.

C. elegans DAF-16/FOXO interacts with TGF-ß/BMP signaling to induce germline tumor formation via mTORC1 activation.

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Wenjing Qi

2017-05-01

Full Text Available Activation of the FOXO transcription factor DAF-16 by reduced insulin/IGF signaling (IIS is considered to be beneficial in C. elegans due to its ability to extend lifespan and to enhance stress resistance. In the germline, cell-autonomous DAF-16 activity prevents stem cell proliferation, thus acting tumor-suppressive. In contrast, hypodermal DAF-16 causes a tumorous germline phenotype characterized by hyperproliferation of the germline stem cells and rupture of the adjacent basement membrane. Here we show that cross-talk between DAF-16 and the transforming growth factor ß (TGFß/bone morphogenic protein (BMP signaling pathway causes germline hyperplasia and results in disruption of the basement membrane. In addition to activating MADM/NRBP/hpo-11 gene alone, DAF-16 also directly interacts with both R-SMAD proteins SMA-2 and SMA-3 in the nucleus to regulate the expression of mTORC1 pathway. Knocking-down of BMP genes or each of the four target genes in the hypodermis was sufficient to inhibit germline proliferation, indicating a cell-non-autonomously controlled regulation of stem cell proliferation by somatic tissues. We propose the existence of two antagonistic DAF-16/FOXO functions, a cell-proliferative somatic and an anti-proliferative germline activity. Whereas germline hyperplasia under reduced IIS is inhibited by DAF-16 cell-autonomously, activation of somatic DAF-16 in the presence of active IIS promotes germline proliferation and eventually induces tumor-like germline growth. In summary, our results suggest a novel pathway crosstalk of DAF-16 and TGF-ß/BMP that can modulate mTORC1 at the transcriptional level to cause stem-cell hyperproliferation. Such cell-type specific differences may help explaining why human FOXO activity is considered to be tumor-suppressive in most contexts, but may become oncogenic, e.g. in chronic and acute myeloid leukemia.

C. elegans DAF-16/FOXO interacts with TGF-ß/BMP signaling to induce germline tumor formation via mTORC1 activation.

Science.gov (United States)

Qi, Wenjing; Yan, Yijian; Pfeifer, Dietmar; Donner V Gromoff, Erika; Wang, Yimin; Maier, Wolfgang; Baumeister, Ralf

2017-05-01

Activation of the FOXO transcription factor DAF-16 by reduced insulin/IGF signaling (IIS) is considered to be beneficial in C. elegans due to its ability to extend lifespan and to enhance stress resistance. In the germline, cell-autonomous DAF-16 activity prevents stem cell proliferation, thus acting tumor-suppressive. In contrast, hypodermal DAF-16 causes a tumorous germline phenotype characterized by hyperproliferation of the germline stem cells and rupture of the adjacent basement membrane. Here we show that cross-talk between DAF-16 and the transforming growth factor ß (TGFß)/bone morphogenic protein (BMP) signaling pathway causes germline hyperplasia and results in disruption of the basement membrane. In addition to activating MADM/NRBP/hpo-11 gene alone, DAF-16 also directly interacts with both R-SMAD proteins SMA-2 and SMA-3 in the nucleus to regulate the expression of mTORC1 pathway. Knocking-down of BMP genes or each of the four target genes in the hypodermis was sufficient to inhibit germline proliferation, indicating a cell-non-autonomously controlled regulation of stem cell proliferation by somatic tissues. We propose the existence of two antagonistic DAF-16/FOXO functions, a cell-proliferative somatic and an anti-proliferative germline activity. Whereas germline hyperplasia under reduced IIS is inhibited by DAF-16 cell-autonomously, activation of somatic DAF-16 in the presence of active IIS promotes germline proliferation and eventually induces tumor-like germline growth. In summary, our results suggest a novel pathway crosstalk of DAF-16 and TGF-ß/BMP that can modulate mTORC1 at the transcriptional level to cause stem-cell hyperproliferation. Such cell-type specific differences may help explaining why human FOXO activity is considered to be tumor-suppressive in most contexts, but may become oncogenic, e.g. in chronic and acute myeloid leukemia.

Multiple paternity in polyandrous barn owls (Tyto alba.

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Isabelle Henry

Full Text Available 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.

The paternal-sex-ratio (PSR) chromosome in natural populations of Nasonia (Hymenoptera Chalcidoidea)

NARCIS (Netherlands)

Beukeboom, L.W.; Werren, J.H.

2000-01-01

Selfish genetic elements may be important in promoting evolutionary change. Paternal sex ratio (PSR) is a selfish B chromosome that causes all-male families in the haplodiploid parasitic wasp Nasonia vitripennis, by inducing paternal genome loss in fertilized eggs. The natural distribution and

Spontaneous germline excision of Tol1, a DNA-based transposable element naturally occurring in the medaka fish genome.

Science.gov (United States)

Watanabe, Kohei; Koga, Hajime; Nakamura, Kodai; Fujita, Akiko; Hattori, Akimasa; Matsuda, Masaru; Koga, Akihiko

2014-04-01

DNA-based transposable elements are ubiquitous constituents of eukaryotic genomes. Vertebrates are, however, exceptional in that most of their DNA-based elements appear to be inactivated. The Tol1 element of the medaka fish, Oryzias latipes, is one of the few elements for which copies containing an undamaged gene have been found. Spontaneous transposition of this element in somatic cells has previously been demonstrated, but there is only indirect evidence for its germline transposition. Here, we show direct evidence of spontaneous excision in the germline. Tyrosinase is the key enzyme in melanin biosynthesis. In an albino laboratory strain of medaka fish, which is homozygous for a mutant tyrosinase gene in which a Tol1 copy is inserted, we identified de novo reversion mutations related to melanin pigmentation. The gamete-based reversion rate was as high as 0.4%. The revertant fish carried the tyrosinase gene from which the Tol1 copy had been excised. We previously reported the germline transposition of Tol2, another DNA-based element that is thought to be a recent invader of the medaka fish genome. Tol1 is an ancient resident of the genome. Our results indicate that even an old element can contribute to genetic variation in the host genome as a natural mutator.

Association of paternal IQ in early adulthood with offspring mortality and hospital admissions for injuries: a cohort study of 503 492 Swedish children.

Science.gov (United States)

Jelenkovic, Aline; Silventoinen, Karri; Tynelius, Per; Rasmussen, Finn

2014-07-01

Higher intelligence (IQ) has been related to a lower risk of mortality and hospital admissions for injuries, but little is known about the effect of parental IQ on offspring outcomes. We explored associations of paternal IQ with mortality and hospitalisations for injuries from all external causes in offspring. A cohort of 503 492 Swedish children under 5 years of age with information on paternal IQ was obtained by record linkage of national registers. HR with 95% CIs were estimated using Cox regression. There was some evidence that paternal IQ was inversely associated with total and external-cause mortality in offspring, although the effects were modest and disappeared when controlling for parents' socioeconomic position (SEP). The only robust gradient was found between paternal IQ and hospital admissions for injuries (HRper 1-SD increase in IQ 0.93, 95% CI 0.92 to 0.94; pIQ may have an increased risk of injury by external causes. Messages on family safety and injury prevention might be tailored according to parental cognitive abilities. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Germline genetic variants in the Wnt/beta-catenin pathway as predictors of colorectal cancer risk

Science.gov (United States)

Hildebrandt, Michelle A.T.; Reyes, Monica E.; Lin, Moubin; He, Yonggang; Nguyen, Son V.; Hawk, Ernest T.; Wu, Xifeng

2016-01-01

Background The Wnt/beta-catenin signaling pathway plays a key role in stem cell maintenance in the colorectum. Rare high penetrance genetic mutations in components of this pathway result in familial colorectal cancer, yet the impact of common, germline variants remains unknown. Methods We assessed 172 variants in 26 genes from the Wnt/beta-catenin pathway in 809 CRC cases and 814 healthy controls, followed by replication of the top findings in another 691 cases and 775 controls. In silico informatic tools were used to predict functional effects of variants. Results Eighteen SNPs in the pathway were significantly associated with CRC risk (P <0.05) in the discovery phase. We observed a significant dose-response increase in CRC risk by number of risk genotypes carried (P = 4.19 × 10−8). Gene-based analysis implicated CSNK1D (P = 0.014), FZD3 (P = 0.023), and APC (P = 0.027) as significant for CRC risk. In the replication phase, FZD3:rs11775139 remained significantly associated with reduced risk with a pooled OR of 0.85 (95% CI: 0.76–0.94, P = 0.001). Although borderline significant in the replication population, APC:rs2545162 was highly significant in the pooled analysis - OR: 1.42, 95% CI: 1.16–1.74, P =0.00085. Functional assessment identified several potential biological mechanisms underlying these associations. Conclusions Our findings suggest that common germline variants in the Wnt/beta-catenin pathway maybe involved in CRC development. Impact These variants may be informative in CRC risk assessment to identify individuals at increased risk who would be candidates for screening. PMID:26809274

Psychopathology in 7-year-old children: Differences in maternal and paternal ratings and the genetic epidemiology.

Science.gov (United States)

Wesseldijk, Laura W; Fedko, Iryna O; Bartels, Meike; Nivard, Michel G; van Beijsterveldt, Catharina E M; Boomsma, Dorret I; Middeldorp, Christel M

2017-04-01

The assessment of children's psychopathology is often based on parental report. Earlier studies have suggested that rater bias can affect the estimates of genetic, shared environmental and unique environmental influences on differences between children. The availability of a large dataset of maternal as well as paternal ratings of psychopathology in 7-year old children enabled (i) the analysis of informant effects on these assessments, and (ii) to obtain more reliable estimates of the genetic and non-genetic effects. DSM-oriented measures of affective, anxiety, somatic, attention-deficit/hyperactivity, oppositional-defiant, conduct, and obsessive-compulsive problems were rated for 12,310 twin pairs from the Netherlands Twin Register by mothers (N = 12,085) and fathers (N = 8,516). The effects of genetic and non-genetic effects were estimated on the common and rater-specific variance. For all scales, mean scores on maternal ratings exceeded paternal ratings. Parents largely agreed on the ranking of their child's problems (r 0.60-0.75). The heritability was estimated over 55% for maternal and paternal ratings for all scales, except for conduct problems (44-46%). Unbiased shared environmental influences, i.e., on the common variance, were significant for affective (13%), oppositional (13%), and conduct problems (37%). In clinical settings, different cutoffs for (sub)clinical scores could be applied to paternal and maternal ratings of their child's psychopathology. Only for conduct problems, shared environmental and genetic influences explain an equal amount in differences between children. For the other scales, genetic factors explain the majority of the variance, especially for the common part that is free of rater bias. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley

Sex differences in life history drive evolutionary transitions among maternal, paternal, and bi-parental care.

Science.gov (United States)

Klug, Hope; Bonsall, Michael B; Alonzo, Suzanne H

2013-04-01

Evolutionary transitions among maternal, paternal, and bi-parental care have been common in many animal groups. We use a mathematical model to examine the effect of male and female life-history characteristics (stage-specific maturation and mortality) on evolutionary transitions among maternal, paternal, and bi-parental care. When males and females are relatively similar - that is, when females initially invest relatively little into eggs and both sexes have similar mortality and maturation - transitions among different patterns of care are unlikely to be strongly favored. As males and females become more different, transitions are more likely. If females initially invest heavily into eggs and this reduces their expected future reproductive success, transitions to increased maternal care (paternal → maternal, paternal → bi-parental, bi-parental → maternal) are favored. This effect of anisogamy (i.e., the fact that females initially invest more into each individual zygote than males) might help explain the predominance of maternal care in nature and differs from previous work that found no effect of anisogamy on the origin of different sex-specific patterns of care from an ancestral state of no care. When male mortality is high or male egg maturation rate is low, males have reduced future reproductive potential and transitions to increased paternal care (maternal → paternal, bi-parental → paternal, maternal → bi-parental) are favored. Offspring need (i.e., low offspring survival in the absence of care) also plays a role in transitions to paternal care. In general, basic life-history differences between the sexes can drive evolutionary transitions among different sex-specific patterns of care. The finding that simple life-history differences can alone lead to transitions among maternal and paternal care suggests that the effect of inter-sexual life-history differences should be considered as a baseline scenario when attempting to understand how other

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

Science.gov (United States)

Komdeur, J

2001-10-22

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

Factor VIII (F8) inversions in severe hemophilia A: Male germ cell origin and diagnosis with RT-PCR

Energy Technology Data Exchange (ETDEWEB)

Antonarakis, S.E. [Geneva Medical School (Switzerland)]|[Johns Hopkins School of Medicine, Baltimore, MD (United States); Rossiter, J.P. [Johns Hopkins School of Medicine, Baltimore, MD (United States); Young, M. [Geneva Medical School (Switzerland)] [and others

1994-09-01

The Factor VIII (F8) gene, which is defective in hemophilia A, is located in the most telomeric megabase of Xq. Inversions due to intrachromosomal homologous recombination between mispaired copies of gene A located within intron 22 of the gene and about 500 kb telomeric to it account for nearly half of the cases of severe hemophilia A. We hypothesized that pairing of Xq with its homolog inhibits the inversion process, and that therefore the event originates predominantly in male germ cells. In all 21 informative cases in which the inversion originated in a maternal grandparent, DNA polymorphism analysis using markers within or very closely linked to F8, determined that it occurred in the male germline. In addition, all but one of 56 mothers of sporadic cases due to inversions were carriers. The data indicate that the F8 gene inversions leading to severe hemophilia A occur almost exclusively in male germ cells. The mean age of maternal grandfathers at the birth of their carrier daughters was 29.9 years (13 cases), i.e. not different from the mean paternal age in the general population, supporting the hypothesis that the inversions occur in meiosis. The inversions can be diagnosed by Southern blot analysis. For more rapid diagnosis we have used RT-PCR of RNA ectopically expressed in blood. Oligonucleotides were used to PCR amplify, after the initial RT reaction of RNA samples using random hexamers, either the normal transcript (F8 exons 21 to 24;312 bp product) or the novel abnormal transcript that is generated after the inversion. Both type 1 and 2 inversions can be recognized in affecteds and carriers by the presence of the diagnostic PcR product of 248 bp. Correct diagnoses were made in samples from 6 patients and 2 carriers with type 1 inversions, 2 patients and 2 carriers with type 2 inversions and 5 normal controls.

Impact of functional germline variants and a deletion polymorphism in APOBEC3A and APOBEC3B on breast cancer risk and survival in a Swedish study population.

Science.gov (United States)

Göhler, Stella; Da Silva Filho, Miguel Inacio; Johansson, Robert; Enquist-Olsson, Kerstin; Henriksson, Roger; Hemminki, Kari; Lenner, Per; Försti, Asta

2016-01-01

The C → T mutation signature caused by APOBEC family members contributes to the development of breast cancer (BC). Also overexpression of APOBEC3B and a ~29.5-kb deletion polymorphism between APOBEC3A and APOBEC3B have been associated with increased BC risk. We investigated in a population-based study, with 782 Swedish BC cases and 1559 controls, associations between potentially functional germline variants in APOBEC3A or APOBEC3B gene and BC risk and survival. Additionally, we identified deletion polymorphism carriers and explored possible associations with BC. No evidence of association between any germline variant, including the deletion polymorphism, and BC risk or survival was observed. Only APOBEC3A promoter polymorphism rs5757402 was associated with low stage (OR = 0.69, 95 % CI 0.50-0.96, dominant model). The reported association between the deletion polymorphism and BC risk was not confirmed in the Swedish population, nor did any genotyped germline variant show any association with BC risk or survival.

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

Science.gov (United States)

Luetjens, C M; Wesselmann, R

2008-06-01

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

Paternal effects on the human sex ratio at birth: evidence from interracial crosses.

Science.gov (United States)

Khoury, M J; Erickson, J D; James, L M

1984-01-01

The effects of interracial crossing on the human sex ratio at birth were investigated using United States birth-certificate data for 1972-1979. The sex ratio was 1.059 for approximately 14 million singleton infants born to white couples, 1.033 for 2 million born to black couples, and 1.024 for 64,000 born to American Indian couples. Paternal and maternal race influences on the observed racial differences in sex ratio were analyzed using additional data on approximately 97,000 singleton infants born to white-black couples and 60,000 born to white-Indian couples. After adjustment for mother's race, white fathers had significantly more male offspring than did black fathers (ratio of sex ratios [RSR] = 1.027) and Indian fathers (RSR = 1.022). On the other hand, after adjustment for father's race, white mothers did not have more male offspring than did black mothers (RSR = 0.998) or Indian mothers (RSR = 1.009). The paternal-race effect persisted after adjustment for parental ages, education, birth order, and maternal marital status. The study shows that the observed racial differences in the sex ratio at birth are due to the effects of father's race and not the mother's. The study points to paternal determinants of the human sex ratio at fertilization and/or of the prenatal differential sex survival. PMID:6496474

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

Science.gov (United States)

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

2012-08-15

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

Statistical properties of the deviations of f 0 F 2 from monthly medians

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Y. Tulunay

2002-06-01

Full Text Available The deviations of hourly f 0 F 2 from monthly medians for 20 stations in Europe during the period 1958-1998 are studied. Spectral analysis is used to show that, both for original data (for each hour and for the deviations from monthly medians, the deterministic components are the harmonics of 11 years (solar cycle, 1 year and its harmonics, 27 days and 12 h 50.49 m (2nd harmonic of lunar rotation period L 2 periodicities. Using histograms for one year samples, it is shown that the deviations from monthly medians are nearly zero mean (mean < 0.5 and approximately Gaussian (relative difference range between %10 to %20 and their standard deviations are larger for daylight hours (in the range 5-7. It is shown that the amplitude distribution of the positive and negative deviations is nearly symmetrical at night hours, but asymmetrical for day hours. The positive and negative deviations are then studied separately and it is observed that the positive deviations are nearly independent of R12 except for high latitudes, but negative deviations are modulated by R12 . The 90% confidence interval for negative deviations for each station and each hour is computed as a linear model in terms of R12. After correction for local time, it is shown that for all hours the confidence intervals increase with latitude but decrease above 60N. Long-term trend analysis showed that there is an increase in the amplitude of positive deviations from monthly means irrespective of the solar conditions. Using spectral analysis it is also shown that the seasonal dependency of negative deviations is more accentuated than the seasonal dependency of positive deviations especially at low latitudes. In certain stations, it is also observed that the 4th harmonic of 1 year corresponding to a periodicity of 3 months, which is missing in f 0 F 2 data, appears in the spectra of negative variations.

C. elegans AMPKs promote survival and arrest germline development during nutrient stress

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Masamitsu Fukuyama

2012-08-01

Mechanisms controlling development, growth, and metabolism are coordinated in response to changes in environmental conditions, enhancing the likelihood of survival to reproductive maturity. Much remains to be learned about the molecular basis underlying environmental influences on these processes. C. elegans larvae enter a developmentally dormant state called L1 diapause when hatched into nutrient-poor conditions. The nematode pten homologue daf-18 is essential for maintenance of survival and germline stem cell quiescence during this period (Fukuyama et al., 2006; Sigmond et al., 2008, but the details of the signaling network(s in which it functions remain to be elucidated. Here, we report that animals lacking both aak-1 and aak-2, which encode the two catalytic α subunits of AMP-activated protein kinase (AMPK, show reduced viability and failure to maintain mitotic quiescence in germline stem cells during L1 diapause. Furthermore, failure to arrest germline proliferation has a long term consequence; aak double mutants that have experienced L1 diapause develop into sterile adults when returned to food, whereas their continuously fed siblings are fertile. Both aak and daf-18 appear to maintain germline quiescence by inhibiting activity of the common downstream target, TORC1 (TOR Complex 1. In contrast, rescue of the lethality phenotype indicates that aak-2 acts not only in the intestine, as does daf-18, but also in neurons, likely promoting survival by preventing energy deprivation during L1 diapause. These results not only provide evidence that AMPK contributes to survival during L1 diapause in a manner distinct from that by which it controls dauer diapause, but they also suggest that AMPK suppresses TORC1 activity to maintain stem cell quiescence.

Paternalistic Leadership in Korean Small and Medium Scale Enterprises: Applicability of a Turkish Paternalism Scale

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Ulaş Çakar

2015-10-01

Full Text Available Social and cultural exchange between Korea and Turkey has been rapidly increasing and is expected to be accelerated for the future. Especially business exchange is interest of many people in both countries. This paper aims to provide insights for business people in Korea and Turkey to understand each country’s cultural aspects. Among different perspectives, paternalism is focused in the study. Paternalism is an important intersection of both cultures but it did not receive much attention. Even though both Turkish and Korean leaders are paternalistic, the origin of the characteristic is based on different background. The current studies of paternalism in Korea are based on Confucianism and economic crisis whereas those of Turkey are based on nomadic history, military Coup d'Etat, complicated bureaucracy, and economic instability. Using a paternalism scale developed with Turkish sample, this study measured Korean employees’ perception on paternalism and paternalistic leadership. The results showed that the scale is applicable in Korean organizations as well.

Disrupting Dominant Discourses about Paternal Participation.

Science.gov (United States)

Brownson, Chris

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

Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.

Science.gov (United States)

Bruno, William; Martinuzzi, Claudia; Dalmasso, Bruna; Andreotti, Virginia; Pastorino, Lorenza; Cabiddu, Francesco; Gualco, Marina; Spagnolo, Francesco; Ballestrero, Alberto; Queirolo, Paola; Grillo, Federica; Mastracci, Luca; Ghiorzo, Paola

2018-01-19

Due to the high mutational somatic burden of Cutaneous Malignant Melanoma (CMM) a thorough profiling of the driver mutations and their interplay is necessary to explain the timing of tumorigenesis or for the identification of actionable genetic events. The aim of this study was to establish the mutation rate of some of the key drivers in melanoma tumorigenesis combining molecular analyses and/or immunohistochemistry in 93 primary CMMs from an Italian cohort also characterized for germline status, and to investigate an interplay between germline and somatic variants. BRAF mutations were present in 68% of cases, while CDKN2A germline mutations were found in 16 % and p16 loss in tissue was found in 63%. TERT promoter somatic mutations were detected in 38% of cases while the TERT -245T>C polymorphism was found in 51% of cases. NRAS mutations were found in 39% of BRAF negative or undetermined cases. NF1 was expressed in all cases analysed. MC1R variations were both considered as a dichotomous variable or scored. While a positive, although not significant association between CDKN2A germline mutations, but not MC1R variants, and BRAF somatic mutation was found, we did not observe other associations between germline and somatic events. A yet undescribed inverse correlation between TERT -245T>C polymorphism and the presence of BRAF mutation was found. It is possible to hypothesize that -245T>C polymorphism could be included in those genotypes which may influence the occurrence of BRAF mutations. Further studies are needed to investigate the role of -245T>C polymorphism as a germline predictor of BRAF somatic mutation status.

The Ovary of Tubifex tubifex (Clitellata, Naididae, Tubificinae Is Composed of One, Huge Germ-Line Cyst that Is Enriched with Cytoskeletal Components.

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Anna Z Urbisz

Full Text Available Recent studies on the ovary organization and oogenesis in Tubificinae have revealed that their ovaries are small polarized structures that are composed of germ cells in subsequent stages of oogenesis that are associated with somatic cells. In syncytial cysts, as a rule, each germ cell is connected to the central cytoplasmic mass, the cytophore, via only one stable intercellular bridge (ring canal. In this paper we present detailed data about the composition of germ-line cysts in Tubifex tubifex with special emphasis on the occurrence and distribution of the cytoskeletal elements. Using fixed material and live cell imaging techniques, we found that the entire ovary of T. tubifex is composed of only one, huge multicellular germ-line cyst, which may contain up to 2,600 cells. Its architecture is broadly similar to the cysts that are found in other clitellate annelids, i.e. a common, anuclear cytoplasmic mass in the center of the cyst and germ cells that are connected to it via intercellular bridges. The cytophore in the T. tubifex cyst extends along the long axis of the ovary in the form of elongated and branched cytoplasmic strands. Rhodamine-coupled phalloidin staining revealed that the prominent strands of actin filaments occur inside the cytophore. Similar to the cytophore, F-actin strands are branched and they are especially well developed in the middle and outermost parts of the ovary. Microfilaments are also present in the ring canals that connect the germ cells with the cytophore in the narrow end of the ovary. Using TubulinTracker, we found that the microtubules form a prominent network of loosely and evenly distributed tubules inside the cytophore as well as in every germ cell. The well-developed cytoskeletal elements in T. tubifex ovary seem to ensure the integrity of such a huge germ-line cyst of complex (germ cells-ring canals-cytophore organization. A comparison between the cysts that are described here and other well-known female

Measurements of time-dependent CP violation in B0→ωKS0, f0(980)KS0, KS0π0 and K+K-KS0 decays

Science.gov (United States)

Chao, Y.; Chen, K.-F.; Miyake, H.; Tajima, O.; Trabelsi, K.; Abe, K.; Abe, K.; Adachi, I.; Aihara, H.; Anipko, D.; Bakich, A. M.; Barberio, E.; Bitenc, U.; Bizjak, I.; Blyth, S.; Bondar, A.; Bračko, M.; Browder, T. E.; Chang, M.-C.; Chang, P.; Chen, A.; Chen, W. T.; Cheon, B. G.; Chistov, R.; Choi, Y.; Choi, Y. K.; Cole, S.; Dalseno, J.; Danilov, M.; Dash, M.; Dragic, J.; Drutskoy, A.; Eidelman, S.; Fratina, S.; Gabyshev, N.; Golob, B.; Ha, H.; Haba, J.; Hara, K.; Hara, T.; Hastings, N. C.; Hayashii, H.; Hazumi, M.; Heffernan, D.; Higuchi, T.; Hokuue, T.; Hoshi, Y.; Hou, W.-S.; Hsiung, Y. B.; Iijima, T.; Ikado, K.; Inami, K.; Ishikawa, A.; Ishino, H.; Itoh, R.; Iwasaki, M.; Iwasaki, Y.; Kaji, H.; Kang, J. H.; Kapusta, P.; Kawai, H.; Kawasaki, T.; Kim, H. J.; Kim, H. O.; Kim, Y. J.; Kinoshita, K.; Korpar, S.; Križan, P.; Krokovny, P.; Kulasiri, R.; Kumar, R.; Kuo, C. C.; Kuzmin, A.; Kwon, Y.-J.; Lee, M. J.; Lesiak, T.; Limosani, A.; Lin, S.-W.; Liventsev, D.; Matsumoto, T.; McOnie, S.; Miyabayashi, K.; Miyata, H.; Miyazaki, Y.; Mizuk, R.; Mohapatra, D.; Moloney, G. R.; Nakahama, Y.; Nakano, E.; Nakao, M.; Natkaniec, Z.; Nishida, S.; Nitoh, O.; Ogawa, S.; Okuno, S.; Olsen, S. L.; Onuki, Y.; Ozaki, H.; Pakhlov, P.; Pakhlova, G.; Park, C. W.; Pestotnik, R.; Piilonen, L. E.; Sakai, Y.; Satoyama, N.; Schietinger, T.; Schneider, O.; Schwartz, A. J.; Seidl, R.; Senyo, K.; Sevior, M. E.; Shapkin, M.; Shibuya, H.; Singh, J. B.; Somov, A.; Soni, N.; Stanič, S.; Starič, M.; Stoeck, H.; Sumisawa, K.; Sumiyoshi, T.; Suzuki, S.; Takasaki, F.; Tamai, K.; Tanaka, M.; Taylor, G. N.; Teramoto, Y.; Tian, X. C.; Tikhomirov, I.; Tsukamoto, T.; Uehara, S.; Ueno, K.; Unno, Y.; Uno, S.; Ushiroda, Y.; Usov, Y.; Varner, G.; Varvell, K. E.; Villa, S.; Vinokurova, A.; Wang, C. H.; Watanabe, Y.; Won, E.; Yabsley, B. D.; Yamaguchi, A.; Yamashita, Y.; Yamauchi, M.; Yusa, Y.; Zhilich, V.; Zhulanov, V.; Zupanc, A.

2007-11-01

We present measurements of time-dependent CP asymmetries in B0→ωKS0, f0(980)KS0, KS0π0 and K+K-KS0 decays based on a sample of 535×106 BB¯ pairs collected at the Υ(4S) resonance with the Belle detector at the KEKB energy-asymmetric e+e- collider. One neutral B meson is fully reconstructed in one of the specified decay channels, and the flavor of the accompanying B meson is identified from its decay products. CP-violation parameters for each of the decay modes are obtained from the asymmetries in the distributions of the proper-time intervals between the two B decays.

Young Adult South African Daughters’ Perceptions of Paternal Involvement and Nurturance

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Sonja Wessels

2014-12-01

Full Text Available This study aimed to assess current and retrospective levels of reported and desired paternal involvement experienced by young adult daughters, as well as current and retrospective levels of paternal nurturance. A sample of 89, female, third year South African Psychology students completed self-administered questionnaires, consisting of a biographical questionnaire, four Father Involvement Scales and two Nurturant Father Scales. Daughters reported their fathers as having been involved and nurturing while growing up. Although they indicated that they perceived fathers as somewhat less involved in young adulthood; they reported being satisfied with the level of father involvement. Daughters also reported high current paternal nurturance. The findings therefore indicate that a group of middle to upper middle-class South African daughters perceived their fathers as relatively involved in their lives and suggest that their fathers’ involvement extends beyond traditional father roles.

Induction of atherosclerosis in mice and hamsters without germline genetic engineering

DEFF Research Database (Denmark)

Bjørklund, Martin Mæng; Hollensen, Anne Kruse; Hagensen, Mette Kallestrup

2014-01-01

RATIONALE: Atherosclerosis can be achieved in animals by germline genetic engineering, leading to hypercholesterolemia, but such models are constrained to few species and strains, and they are difficult to combine with other powerful techniques involving genetic manipulation or variation. OBJECTIVE......: To develop a method for induction of atherosclerosis without germline genetic engineering. METHODS AND RESULTS: Recombinant adeno-associated viral vectors were engineered to encode gain-of-function proprotein convertase subtilisin/kexin type 9 mutants, and mice were given a single intravenous vector...... injection followed by high-fat diet feeding. Plasma proprotein convertase subtilisin/kexin type 9 and total cholesterol increased rapidly and were maintained at high levels, and after 12 weeks, mice had atherosclerotic lesions in the aorta. Histology of the aortic root showed progression of lesions...

Paternal age at birth and the risk of obesity in young adulthood: a register-based birth cohort study of Norwegian males.

Science.gov (United States)

Eriksen, Willy; Sundet, Jon M; Tambs, Kristian

2013-01-01

The aim of this study was to determine the relationship between paternal age at birth and the risk of obesity in young adulthood. Data from the medical birth register of Norway were linked with register data from the Norwegian National Conscript Service and the national statistics agency, Statistics Norway. This study used the data on 346,609 registered males who were born at term in single birth without physical anomalies during 1967-1984 and who were examined at the time of the mandatory military conscription (age 18-20 years). The relationship between paternal age at birth and the occurrence of obesity (body mass index (BMI) ≥ 30.0 kg/m(2) ) at conscription was examined using a multinomial logistic regression analysis with BMI birth but did not increase (P = 0.52) with maternal age at birth. Men born when their fathers were 50 years or older had a 55% (95% confidence interval (CI): 14%, 110%) higher relative risk of obesity than men born when their fathers were younger than 20 years of age, after adjustment for age at conscription, birth order, birth year, maternal age at birth, the mother's total number of children, and maternal and paternal education levels. The risk of obesity in young Norwegian men increases with advancing paternal age at birth but does not increase with advancing maternal age at birth. Copyright © 2012 Wiley Periodicals, Inc.

Paternal genetic contribution influences fetal vulnerability to maternal alcohol consumption in a rat model of fetal alcohol spectrum disorder.

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Laura J Sittig

2010-04-01

Full Text Available Fetal alcohol exposure causes in the offspring a collection of permanent physiological and neuropsychological deficits collectively termed Fetal Alcohol Spectrum Disorder (FASD. The timing and amount of exposure cannot fully explain the substantial variability among affected individuals, pointing to genetic influences that mediate fetal vulnerability. However, the aspects of vulnerability that depend on the mother, the father, or both, are not known.Using the outbred Sprague-Dawley (SD and inbred Brown Norway (BN rat strains as well as their reciprocal crosses, we administered ethanol (E, pair-fed (PF, or control (C diets to the pregnant dams. The dams' plasma levels of free thyroxine (fT4, triiodothyronine (T3, free T3 (fT3, and thyroid stimulating hormone (TSH were measured to elucidate potential differences in maternal thyroid hormonal environment, which affects specific aspects of FASD. We then compared alcohol-exposed, pair fed, and control offspring of each fetal strain on gestational day 21 (G21 to identify maternal and paternal genetic effects on bodyweight and placental weight of male and female fetuses.SD and BN dams exhibited different baseline hypothalamic-pituitary-thyroid function. Moreover, the thyroid function of SD dams was more severely affected by alcohol consumption while that of BN dams was relatively resistant. This novel finding suggests that genetic differences in maternal thyroid function are one source of maternal genetic effects on fetal vulnerability to FASD. The fetal vulnerability to decreased bodyweight after alcohol exposure depended on the genetic contribution of both parents, not only maternal contribution as previously thought. In contrast, the effect of maternal alcohol consumption on placental weight was consistent and not strain-dependent. Interestingly, placental weight in fetuses with different paternal genetic contributions exhibited opposite responses to caloric restriction (pair feeding. In summary

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

Science.gov (United States)

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

2010-06-01

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

Protein-protein docking with F(2Dock 2.0 and GB-rerank.

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Rezaul Chowdhury

Full Text Available Computational simulation of protein-protein docking can expedite the process of molecular modeling and drug discovery. This paper reports on our new F(2 Dock protocol which improves the state of the art in initial stage rigid body exhaustive docking search, scoring and ranking by introducing improvements in the shape-complementarity and electrostatics affinity functions, a new knowledge-based interface propensity term with FFT formulation, a set of novel knowledge-based filters and finally a solvation energy (GBSA based reranking technique. Our algorithms are based on highly efficient data structures including the dynamic packing grids and octrees which significantly speed up the computations and also provide guaranteed bounds on approximation error.The improved affinity functions show superior performance compared to their traditional counterparts in finding correct docking poses at higher ranks. We found that the new filters and the GBSA based reranking individually and in combination significantly improve the accuracy of docking predictions with only minor increase in computation time. We compared F(2 Dock 2.0 with ZDock 3.0.2 and found improvements over it, specifically among 176 complexes in ZLab Benchmark 4.0, F(2 Dock 2.0 finds a near-native solution as the top prediction for 22 complexes; where ZDock 3.0.2 does so for 13 complexes. F(2 Dock 2.0 finds a near-native solution within the top 1000 predictions for 106 complexes as opposed to 104 complexes for ZDock 3.0.2. However, there are 17 and 15 complexes where F(2 Dock 2.0 finds a solution but ZDock 3.0.2 does not and vice versa; which indicates that the two docking protocols can also complement each other.The docking protocol has been implemented as a server with a graphical client (TexMol which allows the user to manage multiple docking jobs, and visualize the docked poses and interfaces. Both the server and client are available for download. Server: http://www.cs.utexas.edu/~bajaj/cvc/software/f

Protein-Protein Docking with F2Dock 2.0 and GB-Rerank

Science.gov (United States)

Chowdhury, Rezaul; Rasheed, Muhibur; Keidel, Donald; Moussalem, Maysam; Olson, Arthur; Sanner, Michel; Bajaj, Chandrajit

2013-01-01

Motivation Computational simulation of protein-protein docking can expedite the process of molecular modeling and drug discovery. This paper reports on our new F2 Dock protocol which improves the state of the art in initial stage rigid body exhaustive docking search, scoring and ranking by introducing improvements in the shape-complementarity and electrostatics affinity functions, a new knowledge-based interface propensity term with FFT formulation, a set of novel knowledge-based filters and finally a solvation energy (GBSA) based reranking technique. Our algorithms are based on highly efficient data structures including the dynamic packing grids and octrees which significantly speed up the computations and also provide guaranteed bounds on approximation error. Results The improved affinity functions show superior performance compared to their traditional counterparts in finding correct docking poses at higher ranks. We found that the new filters and the GBSA based reranking individually and in combination significantly improve the accuracy of docking predictions with only minor increase in computation time. We compared F2 Dock 2.0 with ZDock 3.0.2 and found improvements over it, specifically among 176 complexes in ZLab Benchmark 4.0, F2 Dock 2.0 finds a near-native solution as the top prediction for 22 complexes; where ZDock 3.0.2 does so for 13 complexes. F2 Dock 2.0 finds a near-native solution within the top 1000 predictions for 106 complexes as opposed to 104 complexes for ZDock 3.0.2. However, there are 17 and 15 complexes where F2 Dock 2.0 finds a solution but ZDock 3.0.2 does not and vice versa; which indicates that the two docking protocols can also complement each other. Availability The docking protocol has been implemented as a server with a graphical client (TexMol) which allows the user to manage multiple docking jobs, and visualize the docked poses and interfaces. Both the server and client are available for download. Server: http://www.cs.utexas.edu/~bajaj/cvc/software/f

the realities surrounding the applicability of medical paternalism

African Journals Online (AJOL)

theories and arguments for and against medical paternalism, this study further ... situations yet the process of medical decision ... Poststgraduate School, Faculty of Law, University of Ilorin, Ilorin, Nigeria. ..... 'patient-centered' medicine now.

Paternal social experience affects male reproductive behaviour in ...

Indian Academy of Sciences (India)

[Dasgupta P., Halder S. and Nandy B. 2016 Paternal social experience affects male reproductive behaviour in Drosophila .... allowed to the competitor male to interact with the female. Following ... conditions including maternal environment.

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Science.gov (United States)

Andrews, Katrina A; Ascher, David B; Pires, Douglas Eduardo Valente; Barnes, Daniel R; Vialard, Lindsey; Casey, Ruth T; Bradshaw, Nicola; Adlard, Julian; Aylwin, Simon; Brennan, Paul; Brewer, Carole; Cole, Trevor; Cook, Jackie A; Davidson, Rosemarie; Donaldson, Alan; Fryer, Alan; Greenhalgh, Lynn; Hodgson, Shirley V; Irving, Richard; Lalloo, Fiona; McConachie, Michelle; McConnell, Vivienne P M; Morrison, Patrick J; Murday, Victoria; Park, Soo-Mi; Simpson, Helen L; Snape, Katie; Stewart, Susan; Tomkins, Susan E; Wallis, Yvonne; Izatt, Louise; Goudie, David; Lindsay, Robert S; Perry, Colin G; Woodward, Emma R; Antoniou, Antonis C; Maher, Eamonn R

2018-06-01

Germline pathogenic variants in SDHB/SDHC / SDHD are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. We estimate penetrance for symptomatic tumours and elucidate genotype-phenotype correlations in a large cohort of SDHB/SDHC / SDHD mutation carriers. A retrospective survey of 1832 individuals referred for genetic testing due to a personal or family history of phaeochromocytoma/paraganglioma. 876 patients (401 previously reported) had a germline mutation in SDHB/SDHC / SDHD (n=673/43/160). Tumour risks were correlated with in silico structural prediction analyses. Tumour risks analysis provided novel penetrance estimates and genotype-phenotype correlations. In addition to tumour type susceptibility differences for individual genes, we confirmed that the SDHD: p.Pro81Leu mutation has a distinct phenotype and identified increased age-related tumour risks with highly destabilising SDHB missense mutations. By Kaplan-Meier analysis, the penetrance (cumulative risk of clinically apparent tumours) in SDHB and (paternally inherited) SDHD mutation-positive non-probands (n=371/67 with detailed clinical information) by age 60 years was 21.8% (95% CI 15.2% to 27.9%) and 43.2% (95% CI 25.4% to 56.7%), respectively. Risk of malignant disease at age 60 years in non-proband SDHB mutation carriers was 4.2%(95% CI 1.1% to 7.2%). With retrospective cohort analysis to adjust for ascertainment, cumulative tumour risks for SDHB mutation carriers at ages 60 years and 80 years were 23.9% (95% CI 20.9% to 27.4%) and 30.6% (95% CI 26.8% to 34.7%). Overall risks of clinically apparent tumours for SDHB mutation carriers are substantially lower than initially estimated and will improve counselling of affected families. Specific genotype-tumour risk associations provides a basis for novel investigative strategies into succinate dehydrogenase

Long-term culture of chicken primordial germ cells isolated from embryonic blood and production of germline chimaeric chickens.

Science.gov (United States)

Naito, Mitsuru; Harumi, Takashi; Kuwana, Takashi

2015-02-01

Production of germline chimaeric chickens by the transfer of cultured primordial germ cells (PGC) is a useful system for germline manipulation. A novel culture system was developed for chicken PGC isolated from embryonic blood. The isolated PGC were cultured on feeder cells derived from chicken embryonic fibroblast. The cultured PGC formed colonies and they proliferated about 300-times during the first 30 days. The cultured PGC retained the ability to migrate to recipient gonads and were also chicken VASA homologue (CVH)-positive. Female PGC were present in the mixed-sex PGC populations cultured for more than 90 days and gave rise to viable offspring efficiently via germline chimaeric chickens. Male cultured PGC were transferred to recipient embryos and produced putative chimaeric chickens. The DNA derived from the cultured PGC was detected in the sperm samples of male putative chimaeric chickens, but no donor derived offspring were obtained. Donor-derived offspring were also obtained from germline chimaeric chickens by the transfer of frozen-thawed cultured PGC. The culture method for PGC developed in the present study is useful for manipulation of the germline in chickens, such as preservation of genetic resources and gene transfer. Copyright © 2014 Elsevier B.V. All rights reserved.

Radiative decays involving f0(980) and a0(980) and mixing between low and high mass scalar mesons

International Nuclear Information System (INIS)

Teshima, T.; Kitamura, I.; Morisita, N.

2005-01-01

We analyze the experimental data for φ->f 0 (980)γ, φ->a 0 (980)γ, f 0 (980)->γγ and a 0 (980)->γγ decay widths in a framework where f 0 (980) and a 0 (980) are assumed to be mainly qqq-bar q-bar low mass scalar mesons and mixed with qq-bar high mass scalar mesons. Applied the vector meson dominance model (VDM), these decays amplitudes are expressed by coupling parameters B describing the S (qqq-bar q-bar scalar meson)-V (vector meson)-V (vector meson) coupling and B ' describing the S ' (qq-bar scalar meson)-V-V coupling. Adopting the magnitudes for B and B ' as 3∼2.8 GeV -1 and ∼12 GeV -1 , respectively, the mixing angle between a 0 (980) and a 0 (1450) as ∼9 o , and the mixing parameter λ 01 causing the mixing between I=0 qqq-bar q-bar state and qq-bar state as ∼0.24 GeV 2 , we can interpret these experimental data, consistently

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

Science.gov (United States)

Ploug, Thomas; Holm, Søren; Brodersen, John

2012-12-01

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

No evidence of extra-pair paternity in a colonial seabird, the common tern (Sterna hirundo)

DEFF Research Database (Denmark)

Griggio, M.; Matessi, Giuliano; Marin, G.

2004-01-01

The incidence of extra-pair paternity and egg dumping was investigated in a colony of common terns (Sterna hirundo), a colonial seabird, in the Venetian lagoon. Ten families were sampled and multilocus DNA fingerprinting analysis was performed. No indication of extra-pair paternity or egg dumping...... was found in any of the families. The results are discussed in the light of life-history strategies, the benefits of coloniality and the evolution of adoption behaviour in the species.......The incidence of extra-pair paternity and egg dumping was investigated in a colony of common terns (Sterna hirundo), a colonial seabird, in the Venetian lagoon. Ten families were sampled and multilocus DNA fingerprinting analysis was performed. No indication of extra-pair paternity or egg dumping...

Developmental expression of "germline"- and "sex determination"-related genes in the ctenophore Mnemiopsis leidyi.

Science.gov (United States)

Reitzel, Adam M; Pang, Kevin; Martindale, Mark Q

2016-01-01

An essential developmental pathway in sexually reproducing animals is the specification of germ cells and the differentiation of mature gametes, sperm and oocytes. The "germline" genes vasa, nanos and piwi are commonly identified in primordial germ cells, suggesting a molecular signature for the germline throughout animals. However, these genes are also expressed in a diverse set of somatic stem cells throughout the animal kingdom leaving open significant questions for whether they are required for germline specification. Similarly, members of the Dmrt gene family are essential components regulating sex determination and differentiation in bilaterian animals, but the functions of these transcription factors, including potential roles in sex determination, in early diverging animals remain unknown. The phylogenetic position of ctenophores and the genome sequence of the lobate Mnemiopsis leidyi motivated us to determine the compliment of these gene families in this species and determine expression patterns during development. Our phylogenetic analyses of the vasa, piwi and nanos gene families show that Mnemiopsis has multiple genes in each family with multiple lineage-specific paralogs. Expression domains of Mnemiopsis nanos, vasa and piwi, during embryogenesis from fertilization to the cydippid stage, were diverse, with little overlapping expression and no or little expression in what we think are the germ cells or gametogenic regions. piwi paralogs in Mnemiopsis had distinct expression domains in the ectoderm during development. We observed overlapping expression domains in the apical organ and tentacle apparatus of the cydippid for a subset of "germline genes," which are areas of high cell proliferation, suggesting that these genes are involved with "stem cell" specification and maintenance. Similarly, the five Dmrt genes show diverse non-overlapping expression domains, with no clear evidence for expression in future gametogenic regions of the adult. We also

Large-xF spin asymmetry in π0 production by 200-GeV polarized protons

International Nuclear Information System (INIS)

Adams, D.L.; Corcoran, M.D.; Cranshaw, J.; Nessi-Tedaldi, F.; Nessi, M.; Nguyen, C.; Roberts, J.B.; Skeens, J.; White, J.L.; Bystricky, J.; Lehar, F.; Lesquen, A. de; Cossairt, J.D.; Read, A.L.; En'yo, H.; Funahashi, H.; Goto, Y.; Imai, K.; Itow, Y.; Makino, S.; Masaike, A.; Miyake, K.; Nagamine, T.; Saito, N.; Yamashita, S.; Iwatani, K.; Krueger, K.W.; Kuroda, K.; Michalowicz, A.; Luehring, F.C.; Miller, D.H.; Pauletta, G.; Penzo, A.; Schiavon, P.; Zanetti, A.; Salvato, G.; Villari, A.; Takeutchi, F.; Tamura, N.; Tanaka, N.; Yoshida, T.

1992-01-01

The spin asymmetry A N for inclusive π 0 production by 200-GeV transversely-polarized protons on a liquid hydrogen target has been measured at Fermilab over a wide range of x F , with 0.5 T F >0.3, the asymmetry rises with increasing x F and reaches a value of A N =0.15±0.03 in the region 0.6 F <0.8. This result provides new input regarding the question of the internal spin structure of transversely-polarized protons. (orig.)

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

OpenAIRE

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

2012-01-01

Asthma is a hereditary disease associated with IgE-mediated reaction. Whether maternal atopy and paternal atopy have different impacts on perinatal IgE production and asthma development remains unclear. This paper reviews and summarizes the effects of maternal and paternal atopy on the developmental aspects of IgE production and asthma. Maternal atopy affects both pre- and postnatal IgE production, whereas paternal atopy mainly affects the latter. Maternally transmitted genes GSTP1 and FceRI-...

Uniqueness of Positive Solutions of Δu+f(u)=0 in N, N<=3

Science.gov (United States)

Cortázar, Carmen; Elgueta, Manuel; Felmer, Patricio

We study the uniqueness of radial ground states for the semilinear elliptic partial differential equation $Δ u+f(u)=0 {(*)}$ in N. We assume that the function f has two zeros, the origin and u0>0. Above u0 the function f is positive, is locally Lipschitz continuous and satisfies convexity and growth conditions of a superlinear nature. Below u0, f is assumed to be non-positive, non-identically zero and merely continuous. Our results are obtained through a careful analysis of the solutions of an associated initial-value problem, and the use of a monotone separation theorem. It is known that, for a large class of functions f, the ground states of (*) are radially symmetric. In these cases our result implies that (*) possesses at most one ground state.

Offspring's Leukocyte Telomere Length, Paternal Age, and Telomere Elongation in Sperm

DEFF Research Database (Denmark)

Kimura, Masayuki; Cherkas, Lynn F; Kato, Bernet S

2008-01-01

), the NHLBI Family Heart Study (NHLBI-Heart), the Longitudinal Study of Aging Danish Twins (Danish Twins), and the UK Adult Twin Registry (UK Twins). Using Southern blots, Q-FISH, and flow-FISH, we also measured telomere parameters in sperm from 46 young (50 years) donors. Paternal age...... had an independent effect, expressed by a longer LTL in males of the Framingham Offspring and Danish Twins, males and females of the NHLBI-Heart, and females of UK Twins. For every additional year of paternal age, LTL in offspring increased at a magnitude ranging from half to more than twice......Leukocyte telomere length (LTL) is a complex genetic trait. It shortens with age and is associated with a host of aging-related disorders. Recent studies have observed that offspring of older fathers have longer LTLs. We explored the relation between paternal age and offspring's LTLs in 4 different...

Late manifestation of subclinical hyperthyroidism after goitrogenesis in an index patient with a N670S TSH receptor germline mutation masquerading as TSH receptor antibody negative Graves' disease.

Science.gov (United States)

Schaarschmidt, J; Paschke, S; Özerden, M; Jäschke, H; Huth, S; Eszlinger, M; Meller, J; Paschke, R

2012-12-01

In 27 families with familial non-autoimmune hyperthyroidism (FNAH) reported up to date, the onset of hyperthyroidism varies from 18 months to 60 years. Also the manifestation of goitres is variable in these families. A 74-year-old woman first presented at the age of 69 years with tachyarrhythmia and hypertension. After initial treatment of her hypertension and oral anticoagulation for her intermittent atrial fibrillation, a thyroid workup revealed a suppressed TSH and normal fT3 and fT4. TPO, TSH receptor (TSHR), and thyroglobulin antibodies were negative. Thyroid ultrasound revealed a thyroid volume of 102 ml with several nodules with diameters of up to 2.6 cm right and up to 1.8 cm left. Scintigraphy showed a homogeneous Technetium-99 m ((99 m)Tc) uptake of 1.27%. She was subsequently treated with 1 GBq radioiodine ((131)I). At the age of 74, her thyroid function was normal and her thyroid volume decreased to 90 ml. Because of the diffuse (99 m)Tc uptake and the negative TPO, TSHR, and thyroglobulin antibodies, genetic analysis of her TSHR gene was performed, in spite of her negative family history for hyperthyroidism. Sequencing revealed a N670S TSHR germline mutation. Previous in vitro characterisation of this TSHR mutation suggests a weak constitutive activity, yet the experimental data are ambiguous. This case illustrates the necessity to analyse patients with hyperthyroidism accompanied by diffuse (99 m)Tc uptake and negative TPO, TSHR, and thyroglobulin antibodies for TSHR germline mutations. Moreover, it demonstrates that TSHR germline mutations may first lead to longstanding nodular goitrogenesis before the late manifestation of subclinical hyperthyroidism. © Georg Thieme Verlag KG Stuttgart · New York.

The association between paternal and adolescent depressive symptoms: evidence from two population-based cohorts.

Science.gov (United States)

Lewis, Gemma; Neary, Martha; Polek, Ela; Flouri, Eirini; Lewis, Glyn

2017-12-01

Incidence of depression increases markedly around age 13 years, and nearly three-quarters of adults report that their mental health problems started in adolescence. Although maternal depression is a risk factor for adolescent depression, evidence about the association between paternal and adolescent depression is inconclusive, and many studies have methodological limitations. We aimed to assess the association between paternal and adolescent depressive symptoms in two large population-based cohort studies. We used data for two-parent families from two representative prospective cohorts in Ireland (Growing up in Ireland [GUI]) and the UK (Millennium Cohort Study [MCS]). Parental depressive symptoms were measured with the Centre for Epidemiological Studies Depression Scale in the GUI cohort when children were 9 years old, and the Kessler six-item psychological distress scale in the MCS cohort when children were 7 years old. Adolescent depressive symptoms were measured with the Short Mood and Feelings Questionnaire (SMFQ) at age 13 years in the GUI cohort and age 14 years in the MCS cohort. We analysed data using linear regression models, before and after adjustment for confounders, in both multiply imputed and complete case samples. There were 6070 families in GUI and 7768 in MCS. After all adjustments, a 1 SD (three-point) increase in paternal depressive symptoms was associated with an increase of 0·24 SMFQ points (95% CI 0·03-0·45; p=0·023) in the GUI cohort and 0·18 SMFQ points (0·01-0·36; p=0·041) in the MCS cohort. This association was independent of, and not different in magnitude to, the association between maternal and adolescent depressive symptoms (Wald test p=0·435 in the GUI cohort and 0·470 in the MCS cohort). Our results show an association between depressive symptoms in fathers and depressive symptoms in their adolescent offspring. These findings support the involvement of fathers as well as mothers in early interventions to reduce the

Dosage-dependent copy number gains in E2f1 and E2f3 drive hepatocellular carcinoma.

Science.gov (United States)

Kent, Lindsey N; Bae, Sooin; Tsai, Shih-Yin; Tang, Xing; Srivastava, Arunima; Koivisto, Christopher; Martin, Chelsea K; Ridolfi, Elisa; Miller, Grace C; Zorko, Sarah M; Plevris, Emilia; Hadjiyannis, Yannis; Perez, Miguel; Nolan, Eric; Kladney, Raleigh; Westendorp, Bart; de Bruin, Alain; Fernandez, Soledad; Rosol, Thomas J; Pohar, Kamal S; Pipas, James M; Leone, Gustavo

2017-03-01

Disruption of the retinoblastoma (RB) tumor suppressor pathway, either through genetic mutation of upstream regulatory components or mutation of RB1 itself, is believed to be a required event in cancer. However, genetic alterations in the RB-regulated E2F family of transcription factors are infrequent, casting doubt on a direct role for E2Fs in driving cancer. In this work, a mutation analysis of human cancer revealed subtle but impactful copy number gains in E2F1 and E2F3 in hepatocellular carcinoma (HCC). Using a series of loss- and gain-of-function alleles to dial E2F transcriptional output, we have shown that copy number gains in E2f1 or E2f3b resulted in dosage-dependent spontaneous HCC in mice without the involvement of additional organs. Conversely, germ-line loss of E2f1 or E2f3b, but not E2f3a, protected mice against HCC. Combinatorial mapping of chromatin occupancy and transcriptome profiling identified an E2F1- and E2F3B-driven transcriptional program that was associated with development and progression of HCC. These findings demonstrate a direct and cell-autonomous role for E2F activators in human cancer.

F-theory and 2d (0,2) theories

Energy Technology Data Exchange (ETDEWEB)

Schäfer-Nameki, Sakura [Department of Mathematics, King’s College London, The Strand, London WC2R 2LS (United Kingdom); Weigand, Timo [Institut für Theoretische Physik, Ruprecht-Karls-Universität,Philosophenweg 19, 69120 Heidelberg (Germany)

2016-05-11

F-theory compactified on singular, elliptically fibered Calabi-Yau five-folds gives rise to two-dimensional gauge theories preserving N=(0,2) supersymmetry. In this paper we initiate the study of such compactifications and determine the dictionary between the geometric data of the elliptic fibration and the 2d gauge theory such as the matter content in terms of (0,2) superfields and their supersymmetric couplings. We study this setup both from a gauge-theoretic point of view, in terms of the partially twisted 7-brane theory, and provide a global geometric description based on the structure of the elliptic fibration and its singularities. Global consistency conditions are determined and checked against the dual M-theory compactification to one dimension. This includes a discussion of gauge anomalies, the structure of the Green-Schwarz terms and the Chern-Simons couplings in the dual M-theory supersymmetric quantum mechanics. Furthermore, by interpreting the resulting 2d (0,2) theories as heterotic worldsheet theories, we propose a correspondence between the geometric data of elliptically fibered Calabi-Yau five-folds and the target space of a heterotic gauged linear sigma-model (GLSM). In particular the correspondence between the Landau-Ginsburg and sigma-model phase of a 2d (0,2) GLSM is realized via different T-branes or gluing data in F-theory.

The gravitational sector of 2d (0,2) F-theory vacua

International Nuclear Information System (INIS)

Lawrie, Craig; Schäfer-Nameki, Sakura; Weigand, Timo

2017-01-01

F-theory compactifications on Calabi-Yau fivefolds give rise to two-dimensional N=(0,2) supersymmetric field theories coupled to gravity. We explore the dilaton supergravity defined by the moduli sector of such compactifications. The massless moduli spectrum is found by uplifting Type IIB compactifications on Calabi-Yau fourfolds. This spectrum matches expectations from duality with M-theory on the same elliptic fibration. The latter defines an N=2 Supersymmetric Quantum Mechanics related to the 2d (0,2) F-theory supergravity via circle reduction. Using our recent results on the gravitational anomalies of duality twisted D3-branes wrapping curves in Calabi-Yau fivefolds we show that the F-theory spectrum is anomaly free. We match the classical Chern-Simons terms of the M-theory Super Quantum Mechanics to one-loop contributions to the effective action by S 1 reduction of the dual F-theory.

The gravitational sector of 2d (0,2) F-theory vacua

Energy Technology Data Exchange (ETDEWEB)

Lawrie, Craig [Institut für Theoretische Physik, Ruprecht-Karls-Universität,Philosophenweg 19, Heidelberg, 69120 (Germany); Schäfer-Nameki, Sakura [Mathematical Institute, University of Oxford,Woodstock Road, Oxford, OX2 6GG (United Kingdom); Weigand, Timo [Institut für Theoretische Physik, Ruprecht-Karls-Universität,Philosophenweg 19, Heidelberg, 69120 (Germany)

2017-05-19

F-theory compactifications on Calabi-Yau fivefolds give rise to two-dimensional N=(0,2) supersymmetric field theories coupled to gravity. We explore the dilaton supergravity defined by the moduli sector of such compactifications. The massless moduli spectrum is found by uplifting Type IIB compactifications on Calabi-Yau fourfolds. This spectrum matches expectations from duality with M-theory on the same elliptic fibration. The latter defines an N=2 Supersymmetric Quantum Mechanics related to the 2d (0,2) F-theory supergravity via circle reduction. Using our recent results on the gravitational anomalies of duality twisted D3-branes wrapping curves in Calabi-Yau fivefolds we show that the F-theory spectrum is anomaly free. We match the classical Chern-Simons terms of the M-theory Super Quantum Mechanics to one-loop contributions to the effective action by S{sup 1} reduction of the dual F-theory.

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

Science.gov (United States)

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

2017-09-01

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

Antibody Heavy Chain Variable Domains of Different Germline Gene Origins Diversify through Different Paths

Directory of Open Access Journals (Sweden)

Ufuk Kirik

2017-11-01

Full Text Available B cells produce antibodies, key effector molecules in health and disease. They mature their properties, including their affinity for antigen, through hypermutation events; processes that involve, e.g., base substitution, codon insertion and deletion, often in association with an isotype switch. Investigations of antibody evolution define modes whereby particular antibody responses are able to form, and such studies provide insight important for instance for development of efficient vaccines. Antibody evolution is also used in vitro for the design of antibodies with improved properties. To better understand the basic concepts of antibody evolution, we analyzed the mutational paths, both in terms of amino acid substitution and insertions and deletions, taken by antibodies of the IgG isotype. The analysis focused on the evolution of the heavy chain variable domain of sets of antibodies, each with an origin in 1 of 11 different germline genes representing six human heavy chain germline gene subgroups. Investigated genes were isolated from cells of human bone marrow, a major site of antibody production, and characterized by next-generation sequencing and an in-house bioinformatics pipeline. Apart from substitutions within the complementarity determining regions, multiple framework residues including those in protein cores were targets of extensive diversification. Diversity, both in terms of substitutions, and insertions and deletions, in antibodies is focused to different positions in the sequence in a germline gene-unique manner. Altogether, our findings create a framework for understanding patterns of evolution of antibodies from defined germline genes.

Parallel germline infiltration of a lentivirus in two Malagasy lemurs.

Directory of Open Access Journals (Sweden)

Clément Gilbert

2009-03-01

Full Text Available Retroviruses normally infect the somatic cells of their host and are transmitted horizontally, i.e., in an exogenous way. Occasionally, however, some retroviruses can also infect and integrate into the genome of germ cells, which may allow for their vertical inheritance and fixation in a given species; a process known as endogenization. Lentiviruses, a group of mammalian retroviruses that includes HIV, are known to infect primates, ruminants, horses, and cats. Unlike many other retroviruses, these viruses have not been demonstrably successful at germline infiltration. Here, we report on the discovery of endogenous lentiviral insertions in seven species of Malagasy lemurs from two different genera -- Cheirogaleus and Microcebus. Combining molecular clock analyses and cross-species screening of orthologous insertions, we show that the presence of this endogenous lentivirus in six species of Microcebus is the result of one endogenization event that occurred about 4.2 million years ago. In addition, we demonstrate that this lentivirus independently infiltrated the germline of Cheirogaleus and that the two endogenization events occurred quasi-simultaneously. Using multiple proviral copies, we derive and characterize an apparently full length and intact consensus for this lentivirus. These results provide evidence that lentiviruses have repeatedly infiltrated the germline of prosimian species and that primates have been exposed to lentiviruses for a much longer time than what can be inferred based on sequence comparison of circulating lentiviruses. The study sets the stage for an unprecedented opportunity to reconstruct an ancestral primate lentivirus and thereby advance our knowledge of host-virus interactions.

The Definition of Nudge and Libertarian Paternalism

DEFF Research Database (Denmark)

Hansen, Pelle Guldborg

2016-01-01

paternalism, but also clarifies how nudges relate to incentives and information, and may even be consistent with the removal of certain types of choices. In the end we are left with a revised definition of the concept of nudge that allows for consistently categorising behaviour change interventions...

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

Science.gov (United States)

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 (birth order and the Flynn effect. PMID:24587224

High-pressure studies of superconductivity in BiO0. 75F0. 25BiS2

Indian Academy of Sciences (India)

). We have investigated the effect of pressure on magnetization measurements. Our studies suggest improved superconducting properties in polycrystalline samples of BiO 0.75 F 0.25 BiS 2 . The Tc in our sample is 5.3 K, at ambient pressure, ...

Offspring mortality was a determinant factor in the evolution of paternal investment in humans: An evolutionary game approach.

Science.gov (United States)

López Alonso, Diego; Ortiz-Rodríguez, Isabel M

2017-04-21

Some researchers support the belief that man evolved philandering behavior because of the greater reproductive success of promiscuous males. According to this idea, deserting behavior from the man should be expected along with null paternal involvement in offspring care. Paradoxically however, the average offspring investment in the human male is far higher than that of any other male mammal, including other primates. In our work, we have addressed this conundrum by employing evolutionary game theory, using objective payoffs instead of, as are commonly used, arbitrary payoffs. Payoffs were computed as reproductive successes by a model based on trivial probabilities, implemented within the Barreto's Population Dynamics Toolbox (2014). The evolution of the parent conflict was simulated by a game with two players (the woman and the man). First, a simple game was assayed with two strategies, 'desert-unfaithful' and 'care-faithful'. Then, the game was played with a third mixed strategy, 'care-unfaithful'. The two-strategy game results were mainly determined by the offspring survival rate (s) and the non-paternity rate (z), with remaining factors playing a secondary role. Starting from two empirical estimates for both rates (s = 0.617 and z = 0.033) and decreasing the offspring mortality from near 0.4 to 0.1, the results were consistent with a win for the 'care-faithful' strategy. The 'desert-unfaithful' strategy only won at unrealistically high non-paternity rates (z>0.2). When three-strategy games were played, the mixed strategy of 'care-unfaithful' man could win the game in some less frequent cases. Regardless of the number of game strategies, 'care' fathers always won. These results strongly suggest that offspring mortality was the key factor in the evolution of paternal investment within the Homo branch. The 'care-faithful' strategy would have been the main strategy in human evolution but 'care-unfaithful' men did evolve at a lesser frequency. It can therefore be

Understanding the role of p53 in adaptive response to radiation-induced germline mutations

International Nuclear Information System (INIS)

Langlois, N.L.; Quinn, J.S.; Somers, C.M.; Boreham, D.R.; Mitchel, R.E.J.

2003-01-01

Full text: Radiation-induced adaptive response is now a widely studied area of radiation biology. Studies have demonstrated reduced levels of radiation-induced biological damage when an 'adaptive dose' is given before a higher 'challenge dose' compared to when the challenge dose is given alone. It has been shown in some systems to be a result of inducible cellular repair systems. The adaptive response has been clearly demonstrated in many model systems, however its impact on heritable effects in the mammalian germline has never been studied. Expanded Simple Tandem Repeat (ESTR) loci have been used as markers demonstrating that induced heritable mutations in mice follow a dose-response relationship. Recent data in our laboratory show preliminary evidence of radiation-induced adaptive response suppressing germline mutations at ESTR loci in wild type mice. The frequency of heritable mutations was significantly reduced when a priming dose of 0.1 Gy was given 24 hours prior to a 1 Gy acute challenging dose. We are now conducting a follow-up study to attempt to understand the mechanism of this adaptive response. P53 is known to play a significant role in governing apoptosis, DNA repair and cancer induction. In order to determine what function p53 has in the adaptive response for heritable mutations, we have mated radiation treated Trp53+/- male mice (C57Bl) to untreated, normal females (C57Bl). Using DNA fingerprinting, we are investigating the rate of inherited radiation-induced mutations on pre- and post-meiotic radiation-treated gametocytes by examining mutation frequencies in offspring DNA. If p53 is integral in the mechanism of adaptive response, we should not see an adaptive response in radiation-induced heritable mutations in these mice. This research is significant in that it will provide insight to understanding the mechanism behind radiation-induced adaptive response in the mammalian germline

Daddy issues: paternal effects on phenotype.

Science.gov (United States)

Rando, Oliver J

2012-11-09

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

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

Science.gov (United States)

Anastasaki, Corina; Woo, Albert S; Messiaen, Ludwine M; Gutmann, David H

2015-06-15

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurologic condition characterized by significant clinical heterogeneity, ranging from malignant cancers to cognitive deficits. Recent studies have begun to reveal rare genotype-phenotype correlations, suggesting that the specific germline NF1 gene mutation may be one factor underlying disease heterogeneity. The purpose of this study was to define the impact of the germline NF1 gene mutation on brain neurofibromin function relevant to learning. Herein, we employ human NF1-patient primary skin fibroblasts, induced pluripotent stem cells and derivative neural progenitor cells (NPCs) to demonstrate that NF1 germline mutations have dramatic effects on neurofibromin expression. Moreover, while all NF1-patient NPCs exhibit increased RAS activation and reduced cyclic AMP generation, there was a neurofibromin dose-dependent reduction in dopamine (DA) levels. Additionally, we leveraged two complementary Nf1 genetically-engineered mouse strains in which hippocampal-based learning and memory is DA-dependent to establish that neuronal DA levels and signaling as well as mouse spatial learning are controlled in an Nf1 gene dose-dependent manner. Collectively, this is the first demonstration that different germline NF1 gene mutations differentially dictate neurofibromin function in the brain. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.

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Jian Li

Full Text Available The hotspots of structural polymorphisms and structural mutability in the human genome remain to be explained mechanistically. We examine associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination (NAHR mediated by low-copy repeats (LCRs. Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability. Specifically, methylation deserts, the ~1% fraction of the human genome with the lowest methylation in the germline, show a tenfold enrichment for structural rearrangements that occurred in the human genome since the branching of chimpanzee and are highly enriched for fast-evolving loci that regulate tissue-specific gene expression. Analysis of copy number variants (CNVs from 400 human samples identified using a custom-designed array comparative genomic hybridization (aCGH chip, combined with publicly available structural variation data, indicates that association of structural mutability with germline hypomethylation is comparable in magnitude to the association of structural mutability with LCR-mediated NAHR. Moreover, rare CNVs occurring in the genomes of individuals diagnosed with schizophrenia, bipolar disorder, and developmental delay and de novo CNVs occurring in those diagnosed with autism are significantly more concentrated within hypomethylated regions. These findings suggest a new connection between the epigenome, selective mutability, evolution, and human disease.

Paternal Attachment, Parenting Beliefs and Children's Attachment

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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…

What difference can fathers make? Early paternal absence compromises Peruvian children's growth.

Science.gov (United States)

Dearden, Kirk; Crookston, Benjamin; Madanat, Hala; West, Joshua; Penny, Mary; Cueto, Santiago

2013-01-01

Considerable evidence suggests that fathers' absence from home has a negative short- and long-term impact on children's health, psychosocial development, cognition and educational experience. We assessed the impact of father presence during infancy and childhood on children's height-for-age z-score (HAZ) at 5 years old. We conducted secondary data analysis from a 15-year cohort study (Young Lives) focusing on one of four Young Lives countries (Peru, n = 1821). When compared with children who saw their fathers on a daily or weekly basis during infancy and childhood, children who did not see their fathers regularly at either period had significantly lower HAZ scores (-0.23, P = 0.0094) after adjusting for maternal age, wealth and other contextual factors. Results also suggest that children who saw their fathers during childhood (but not infancy) had better HAZ scores than children who saw their fathers in infancy and childhood (0.23 z-score, P = 0.0388). Findings from analyses of resilient children (those who did not see their fathers at either round but whose HAZ > -2) show that a child's chances of not being stunted in spite of paternal absence at 1 and 5 years old were considerably greater if he or she lived in an urban area [odds ratio (OR) = 9.3], was from the wealthiest quintile (OR = 8.7) and lived in a food secure environment (OR = 3.8). Interventions designed to reduce malnutrition must be based on a fuller understanding of how paternal absence puts children at risk of growth failure. © 2011 Blackwell Publishing Ltd.

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

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Marina Rafajlović

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

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

KAUST Repository

Rafajlović, Marina

2013-10-28

Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration) has been reached. During colonisation, multiple mating by 2-10 males increased the heterozygosity by 10-300% in comparison with single paternity, while in the steady state the increase was 10-50% compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity. 2013 Rafajlovi? et al.

Germline Genetic Modification and Identity: the Mitochondrial and Nuclear Genomes.

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Scott, Rosamund; Wilkinson, Stephen

2017-12-01

In a legal 'first', the UK removed a prohibition against modifying embryos in human reproduction, to enable mitochondrial replacement techniques (MRTs), a move the Government distanced from 'germline genetic modification', which it aligned with modifying the nuclear genome. This paper (1) analyzes the uses and meanings of this term in UK/US legal and policy debates; and (2) evaluates related ethical concerns about identity. It shows that, with respect to identity, MRTs and nuclear genome editing techniques such as CRISPR/Cas-9 (now a policy topic), are not as different as has been supposed. While it does not follow that the two should be treated exactly alike, one of the central reasons offered for treating MRTs more permissively than nuclear genetic modification, and for not regarding MRTs as 'germline genetic modification', is thereby in doubt. Identity cannot, by itself, do the work thus far assigned to it, explicitly or otherwise, in law and policy.

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

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Martin F Breed

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

The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.

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Weigelt, Britta; Bi, Rui; Kumar, Rahul; Blecua, Pedro; Mandelker, Diana L; Geyer, Felipe C; Pareja, Fresia; James, Paul A; Couch, Fergus J; Eccles, Diana M; Blows, Fiona; Pharoah, Paul; Li, Anqi; Selenica, Pier; Lim, Raymond S; Jayakumaran, Gowtham; Waddell, Nic; Shen, Ronglai; Norton, Larry; Wen, Hannah Y; Powell, Simon N; Riaz, Nadeem; Robson, Mark E; Reis-Filho, Jorge S; Chenevix-Trench, Georgia

2018-02-28

Pathogenic germline variants in ataxia-telangiectasia mutated (ATM), a gene that plays a role in DNA damage response and cell cycle checkpoints, confer an increased breast cancer (BC) risk. Here, we investigated the phenotypic characteristics and landscape of somatic genetic alterations in 24 BCs from ATM germline mutation carriers by whole-exome and targeted sequencing. ATM-associated BCs were consistently hormone receptor positive and largely displayed minimal immune infiltrate. Although 79.2% of these tumors exhibited loss of heterozygosity of the ATM wild-type allele, none displayed high activity of mutational signature 3 associated with defective homologous recombination DNA (HRD) repair. No TP53 mutations were found in the ATM-associated BCs. Analysis of an independent data set confirmed that germline ATM variants and TP53 somatic mutations are mutually exclusive. Our findings indicate that ATM-associated BCs often harbor bi-allelic inactivation of ATM, are phenotypically distinct from BRCA1/2-associated BCs, lack HRD-related mutational signatures, and that TP53 and ATM genetic alterations are likely epistatic.

A Mononucleotide Markers Panel to Identify hMLH1/hMSH2 Germline Mutations

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M. Pedroni

2007-01-01

Full Text Available Hereditary NonPolyposis Colorectal Cancer (Lynch syndrome is an autosomal dominant disease caused by germline mutations in a class of genes deputed to maintain genomic integrity during cell replication, mutations result in a generalized genomic instability, particularly evident at microsatellite loci (Microsatellite Instability, MSI. MSI is present in 85–90% of colorectal cancers that occur in Lynch Syndrome. To standardize the molecular diagnosis of MSI, a panel of 5 microsatellite markers was proposed (known as the “Bethesda panel”. Aim of our study is to evaluate if MSI testing with two mononucleotide markers, such as BAT25 and BAT26, was sufficient to identify patients with hMLH1/hMSH2 germline mutations. We tested 105 tumours for MSI using both the Bethesda markers and the two mononucleotide markers BAT25 and BAT26. Moreover, immunohistochemical evaluation of MLH1 and MSH2 proteins was executed on the tumours with at least one unstable microsatellite, whereas germline hMLH1/hMSH2 mutations were searched for all cases showing two or more unstable microsatellites.

Maternal Depression, Paternal Psychopathology, and Toddlers’ Behavior Problems

Science.gov (United States)

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

2013-01-01

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

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

Science.gov (United States)

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

2013-01-01

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

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

Science.gov (United States)

Ohannessian, Christine McCauley

2015-11-01

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

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

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Takeru Miyajima

2017-09-01

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

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

Science.gov (United States)

Miyajima, Takeru; Yamaguchi, Hiroyuki

2017-01-01

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

Synthesis, structure and electrochemical properties of LiNaCo{sub 0.5}Fe{sub 0.5}PO{sub 4}F fluoride-phosphate

Energy Technology Data Exchange (ETDEWEB)

Fedotov, Stanislav S. [Department of Chemistry, Lomonosov Moscow State University, 119991 Moscow (Russian Federation); Skoltech Center for Electrochemical Energy Storage, Skolkovo Institute of Science and Technology, 143026 Moscow (Russian Federation); Kuzovchikov, Sergey M.; Khasanova, Nellie R.; Drozhzhin, Oleg A.; Filimonov, Dmitriy S. [Department of Chemistry, Lomonosov Moscow State University, 119991 Moscow (Russian Federation); Karakulina, Olesia M.; Hadermann, Joke [EMAT, University of Antwerp, Groenenborgerlaan 171, B-2020 Antwerp (Belgium); Abakumov, Artem M. [Department of Chemistry, Lomonosov Moscow State University, 119991 Moscow (Russian Federation); Skoltech Center for Electrochemical Energy Storage, Skolkovo Institute of Science and Technology, 143026 Moscow (Russian Federation); EMAT, University of Antwerp, Groenenborgerlaan 171, B-2020 Antwerp (Belgium); Antipov, Evgeny V. [Department of Chemistry, Lomonosov Moscow State University, 119991 Moscow (Russian Federation)

2016-10-15

LiNaCo{sub 0.5}Fe{sub 0.5}PO{sub 4}F fluoride-phosphate was synthesized via conventional solid-state and novel freeze-drying routes. The crystal structure was refined based on neutron powder diffraction (NPD) data and validated by electron diffraction (ED) and high-resolution transmission electron microscopy (HRTEM). The alkali ions are ordered in LiNaCo{sub 0.5}Fe{sub 0.5}PO{sub 4}F and the transition metals jointly occupy the same crystallographic sites. The oxidation state and oxygen coordination environment of the Fe atoms were verified by {sup 57}Fe Mössbauer spectroscopy. Electrochemical tests of the LiNaCo{sub 0.5}Fe{sub 0.5}PO{sub 4}F cathode material demonstrated a reversible activity of the Fe{sup 3+}/Fe{sup 2+} redox couple at the electrode potential near 3.4 V and minor activity of the Co{sup 3+}/Co{sup 2+} redox couple over 5 V vs Li/Li{sup +}. The material exhibited the discharge capacity of more than 82% (theo.) regarding Fe{sup 3+}/Fe{sup 2+} in the 2.4÷4.6 V vs Li/Li{sup +} potential range. - Graphical abstract: The ball-polyhedral representation of the LiNaCo{sub 0.5}Fe{sub 0.5}PO{sub 4}F crystal structure. The MO{sub 4}F{sub 2} units are depicted as blue octahedra, PO{sub 4} units as orange tetrahedra, sodium atoms are designated as yellow (Na1), lithium – red and brown (Li2, Li3 resp.), fluorine – green, oxygen – violet spheres. - Highlights: • Freeze-drying method was successfully applied to the synthesis of LiNaCo{sub 0.5}Fe{sub 0.5}PO{sub 4}F. • The crystal structure of LiNaCo{sub 0.5}Fe{sub 0.5}PO{sub 4}F was refined based on NPD and validated by ED and HRTEM. • LiNaCo{sub 0.5}Fe{sub 0.5}PO{sub 4}F demonstrated a reversible Li de/intercalation in the 2.5÷4.6 V vs Li/Li{sup +} range.

Experimental evidence showing that no mitotically active female germline progenitors exist in postnatal mouse ovaries.

Science.gov (United States)

Zhang, Hua; Zheng, Wenjing; Shen, Yan; Adhikari, Deepak; Ueno, Hiroo; Liu, Kui

2012-07-31

It has been generally accepted for more than half a century that, in most mammalian species, oocytes cannot renew themselves in postnatal or adult life, and that the number of oocytes is already fixed in fetal or neonatal ovaries. This assumption, however, has been challenged over the past decade. In this study, we have taken an endogenous genetic approach to this question and generated a multiple fluorescent Rosa26(rbw/+);Ddx4-Cre germline reporter mouse model for in vivo and in vitro tracing of the development of female germline cell lineage. Through live cell imaging and de novo folliculogenesis experiments, we show that the Ddx4-expressing cells from postnatal mouse ovaries did not enter mitosis, nor did they contribute to oocytes during de novo folliculogenesis. Our results provide evidence that supports the traditional view that no postnatal follicular renewal occurs in mammals, and no mitotically active Ddx4-expressing female germline progenitors exist in postnatal mouse ovaries.

Paternal work stress and prolonged time to pregnancy.

Science.gov (United States)

Lee, Mi-Sun; Paek, Domyung; Eum, Ki-Do; Siegrist, Johannes; Li, Jian; Lee, Hye-Eun; Cho, Sung-Il

2009-01-01

The aim of this study was to explore an association between psychosocial stress at work in married men and their spouses' prolonged time to pregnancy (TTP). All married male workers of a large Korean petrochemical enterprise and their wives fulfilling the selection criteria were included. Main selection criteria were lack of use of contraceptives and experienced pregnancy in recent past. Data were available from 322 couples. Psychosocial stress at work was measured by the effort-reward imbalance questionnaire. Prolonged TTP was measured by the "TTP questionnaire". After adjustment for confounding effects of demographic and life-style characteristics and benzene exposure, delayed TTP, defined by frequency of first-cycle pregnancy, was associated with one standard deviation (SD) increase of the effort-reward ratio in the chronically stressed group of married men (OR = 0.47; 95% CI = 0.22-0.99) in logistic regression analysis. A similar, but somewhat weaker effect, was found for the overall group (OR = 0.67; 95% CI = 0.47-0.94). Paternal stress at work, as measured by effort-reward imbalance, seemed to be associated with a decreased number of conceptions in the first menstrual cycle.

Observation of B(s)(0) → J/ψ f1(1285) decays and measurement of the f1(1285) mixing angle.

Science.gov (United States)

Aaij, R; Adeva, B; Adinolfi, M; Adrover, C; Affolder, A; Ajaltouni, Z; Albrecht, J; Alessio, F; Alexander, M; Ali, S; Alkhazov, G; Alvarez Cartelle, P; Alves, A A; Amato, S; Amerio, S; Amhis, Y; Anderlini, L; Anderson, J; Andreassen, R; Andreotti, M; Andrews, J E; Appleby, R B; Aquines Gutierrez, O; Archilli, F; Artamonov, A; Artuso, M; Aslanides, E; Auriemma, G; Baalouch, M; Bachmann, S; Back, J J; Badalov, A; Baesso, C; Balagura, V; Baldini, W; Barlow, R J; Barschel, C; Barsuk, S; Barter, W; Batozskaya, V; Bauer, Th; Bay, A; Beddow, J; Bedeschi, F; Bediaga, I; Belogurov, S; Belous, K; Belyaev, I; Ben-Haim, E; Bencivenni, G; Benson, S; Benton, J; Berezhnoy, A; Bernet, R; Bettler, M-O; van Beuzekom, M; Bien, A; Bifani, S; Bird, T; Bizzeti, A; Bjørnstad, P M; Blake, T; Blanc, F; Blouw, J; Blusk, S; Bocci, V; Bondar, A; Bondar, N; Bonivento, W; Borghi, S; Borgia, A; Bowcock, T J V; Bowen, E; Bozzi, C; Brambach, T; van den Brand, J; Bressieux, J; Brett, D; Britsch, M; Britton, T; Brook, N H; Brown, H; Bursche, A; Busetto, G; Buytaert, J; Cadeddu, S; Calabrese, R; Callot, O; Calvi, M; Calvo Gomez, M; Camboni, A; Campana, P; Campora Perez, D; Carbone, A; Carboni, G; Cardinale, R; Cardini, A; Carranza-Mejia, H; Carson, L; Carvalho Akiba, K; Casse, G; Castillo Garcia, L; Cattaneo, M; Cauet, Ch; Cenci, R; Charles, M; Charpentier, Ph; Cheung, S-F; Chiapolini, N; Chrzaszcz, M; Ciba, K; Cid Vidal, X; Ciezarek, G; Clarke, P E L; Clemencic, M; Cliff, H V; Closier, J; Coca, C; Coco, V; Cogan, J; Cogneras, E; Collins, P; Comerma-Montells, A; Contu, A; Cook, A; Coombes, M; Coquereau, S; Corti, G; Couturier, B; Cowan, G A; Craik, D C; Cruz Torres, M; Cunliffe, S; Currie, R; D'Ambrosio, C; David, P; David, P N Y; Davis, A; De Bonis, I; De Bruyn, K; De Capua, S; De Cian, M; De Miranda, J M; De Paula, L; De Silva, W; De Simone, P; Decamp, D; Deckenhoff, M; Del Buono, L; Déléage, N; Derkach, D; Deschamps, O; Dettori, F; Di Canto, A; Dijkstra, H; Dogaru, M; Donleavy, S; Dordei, F; Dosil Suárez, A; Dossett, D; Dovbnya, A; Dupertuis, F; Durante, P; Dzhelyadin, R; Dziurda, A; Dzyuba, A; Easo, S; Egede, U; Egorychev, V; Eidelman, S; van Eijk, D; Eisenhardt, S; Eitschberger, U; Ekelhof, R; Eklund, L; El Rifai, I; Elsasser, Ch; Falabella, A; Färber, C; Farinelli, C; Farry, S; Ferguson, D; Fernandez Albor, V; Ferreira Rodrigues, F; Ferro-Luzzi, M; Filippov, S; Fiore, M; Fiorini, M; Fitzpatrick, C; Fontana, M; Fontanelli, F; Forty, R; Francisco, O; Frank, M; Frei, C; Frosini, M; Furfaro, E; Gallas Torreira, A; Galli, D; Gandelman, M; Gandini, P; Gao, Y; Garofoli, J; Garosi, P; Garra Tico, J; Garrido, L; Gaspar, C; Gauld, R; Gersabeck, E; Gersabeck, M; Gershon, T; Ghez, Ph; Gibson, V; Giubega, L; Gligorov, V V; Göbel, C; Golubkov, D; Golutvin, A; Gomes, A; Gorbounov, P; Gordon, H; Grabalosa Gándara, M; Graciani Diaz, R; Granado Cardoso, L A; Graugés, E; Graziani, G; Grecu, A; Greening, E; Gregson, S; Griffith, P; Grillo, L; Grünberg, O; Gui, B; Gushchin, E; Guz, Yu; Gys, T; Hadjivasiliou, C; Haefeli, G; Haen, C; Hafkenscheid, T W; Haines, S C; Hall, S; Hamilton, B; Hampson, T; Hansmann-Menzemer, S; Harnew, N; Harnew, S T; Harrison, J; Hartmann, T; He, J; Head, T; Heijne, V; Hennessy, K; Henrard, P; Hernando Morata, J A; van Herwijnen, E; Heß, M; Hicheur, A; Hicks, E; Hill, D; Hoballah, M; Hombach, C; Hulsbergen, W; Hunt, P; Huse, T; Hussain, N; Hutchcroft, D; Hynds, D; Iakovenko, V; Idzik, M; Ilten, P; Jacobsson, R; Jaeger, A; Jans, E; Jaton, P; Jawahery, A; Jing, F; John, M; Johnson, D; Jones, C R; Joram, C; Jost, B; Kaballo, M; Kandybei, S; Kanso, W; Karacson, M; Karbach, T M; Kenyon, I R; Ketel, T; Khanji, B; Kochebina, O; Komarov, I; Koopman, R F; Koppenburg, P; Korolev, M; Kozlinskiy, A; Kravchuk, L; Kreplin, K; Kreps, M; Krocker, G; Krokovny, P; Kruse, F; Kucharczyk, M; Kudryavtsev, V; Kurek, K; Kvaratskheliya, T; La Thi, V N; Lacarrere, D; Lafferty, G; Lai, A; Lambert, D; Lambert, R W; Lanciotti, E; Lanfranchi, G; Langenbruch, C; Latham, T; Lazzeroni, C; Le Gac, R; van Leerdam, J; Lees, J-P; Lefèvre, R; Leflat, A; Lefrançois, J; Leo, S; Leroy, O; Lesiak, T; Leverington, B; Li, Y; Li Gioi, L; Liles, M; Lindner, R; Linn, C; Liu, B; Liu, G; Lohn, S; Longstaff, I; Lopes, J H; Lopez-March, N; Lu, H; Lucchesi, D; Luisier, J; Luo, H; Luppi, E; Lupton, O; Machefert, F; Machikhiliyan, I V; Maciuc, F; Maev, O; Malde, S; Manca, G; Mancinelli, G; Maratas, J; Marconi, U; Marino, P; Märki, R; Marks, J; Martellotti, G; Martens, A; Martín Sánchez, A; Martinelli, M; Martinez Santos, D; Martins Tostes, D; Martynov, A; Massafferri, A; Matev, R; Mathe, Z; Matteuzzi, C; Maurice, E; Mazurov, A; McCann, M; McCarthy, J; McNab, A; McNulty, R; McSkelly, B; Meadows, B; Meier, F; Meissner, M; Merk, M; Milanes, D A; Minard, M-N; Molina Rodriguez, J; Monteil, S; Moran, D; Morawski, P; Mordà, A; Morello, M J; Mountain, R; Mous, I; Muheim, F; Müller, K; Muresan, R; Muryn, B; Muster, B; Naik, P; Nakada, T; Nandakumar, R; Nasteva, I; Needham, M; Neubert, S; Neufeld, N; Nguyen, A D; Nguyen, T D; Nguyen-Mau, C; Nicol, M; Niess, V; Niet, R; Nikitin, N; Nikodem, T; Nomerotski, A; Novoselov, A; Oblakowska-Mucha, A; Obraztsov, V; Oggero, S; Ogilvy, S; Okhrimenko, O; Oldeman, R; Onderwater, G; Orlandea, M; Otalora Goicochea, J M; Owen, P; Oyanguren, A; Pal, B K; Palano, A; Palutan, M; Panman, J; Papanestis, A; Pappagallo, M; Parkes, C; Parkinson, C J; Passaleva, G; Patel, G D; Patel, M; Patrick, G N; Patrignani, C; Pavel-Nicorescu, C; Pazos Alvarez, A; Pearce, A; Pellegrino, A; Penso, G; Pepe Altarelli, M; Perazzini, S; Perez Trigo, E; Pérez-Calero Yzquierdo, A; Perret, P; Perrin-Terrin, M; Pescatore, L; Pesen, E; Pessina, G; Petridis, K; Petrolini, A; Phan, A; Picatoste Olloqui, E; Pietrzyk, B; Pilař, T; Pinci, D; Playfer, S; Plo Casasus, M; Polci, F; Polok, G; Poluektov, A; Polycarpo, E; Popov, A; Popov, D; Popovici, B; Potterat, C; Powell, A; Prisciandaro, J; Pritchard, A; Prouve, C; Pugatch, V; Puig Navarro, A; Punzi, G; Qian, W; Rachwal, B; Rademacker, J H; Rakotomiaramanana, B; Rangel, M S; Raniuk, I; Rauschmayr, N; Raven, G; Redford, S; Reichert, S; Reid, M M; Dos Reis, A C; Ricciardi, S; Richards, A; Rinnert, K; Rives Molina, V; Roa Romero, D A; Robbe, P; Roberts, D A; Rodrigues, A B; Rodrigues, E; Rodriguez Perez, P; Roiser, S; Romanovsky, V; Romero Vidal, A; Rotondo, M; Rouvinet, J; Ruf, T; Ruffini, F; Ruiz, H; Ruiz Valls, P; Sabatino, G; Saborido Silva, J J; Sagidova, N; Sail, P; Saitta, B; Salustino Guimaraes, V; Sanmartin Sedes, B; Santacesaria, R; Santamarina Rios, C; Santovetti, E; Sapunov, M; Sarti, A; Satriano, C; Satta, A; Savrie, M; Savrina, D; Schiller, M; Schindler, H; Schlupp, M; Schmelling, M; Schmidt, B; Schneider, O; Schopper, A; Schune, M-H; Schwemmer, R; Sciascia, B; Sciubba, A; Seco, M; Semennikov, A; Senderowska, K; Sepp, I; Serra, N; Serrano, J; Seyfert, P; Shapkin, M; Shapoval, I; Shcheglov, Y; Shears, T; Shekhtman, L; Shevchenko, O; Shevchenko, V; Shires, A; Silva Coutinho, R; Sirendi, M; Skidmore, N; Skwarnicki, T; Smith, N A; Smith, E; Smith, E; Smith, J; Smith, M; Sokoloff, M D; Soler, F J P; Soomro, F; Souza, D; Souza De Paula, B; Spaan, B; Sparkes, A; Spradlin, P; Stagni, F; Stahl, S; Steinkamp, O; Stevenson, S; Stoica, S; Stone, S; Storaci, B; Straticiuc, M; Straumann, U; Subbiah, V K; Sun, L; Sutcliffe, W; Swientek, S; Syropoulos, V; Szczekowski, M; Szczypka, P; Szilard, D; Szumlak, T; T'jampens, S; Teklishyn, M; Tellarini, G; Teodorescu, E; Teubert, F; Thomas, C; Thomas, E; van Tilburg, J; Tisserand, V; Tobin, M; Tolk, S; Tomassetti, L; Tonelli, D; Topp-Joergensen, S; Torr, N; Tournefier, E; Tourneur, S; Tran, M T; Tresch, M; Tsaregorodtsev, A; Tsopelas, P; Tuning, N; Ubeda Garcia, M; Ukleja, A; Ustyuzhanin, A; Uwer, U; Vagnoni, V; Valenti, G; Vallier, A; Vazquez Gomez, R; Vazquez Regueiro, P; Vázquez Sierra, C; Vecchi, S; Velthuis, J J; Veltri, M; Veneziano, G; Vesterinen, M; Viaud, B; Vieira, D; Vilasis-Cardona, X; Vollhardt, A; Volyanskyy, D; Voong, D; Vorobyev, A; Vorobyev, V; Voß, C; Voss, H; Waldi, R; Wallace, C; Wallace, R; Wandernoth, S; Wang, J; Ward, D R; Watson, N K; Webber, A D; Websdale, D; Whitehead, M; Wicht, J; Wiechczynski, J; Wiedner, D; Wiggers, L; Wilkinson, G; Williams, M P; Williams, M; Wilson, F F; Wimberley, J; Wishahi, J; Wislicki, W; Witek, M; Wormser, G; Wotton, S A; Wright, S; Wu, S; Wyllie, K; Xie, Y; Xing, Z; Yang, Z; Yuan, X; Yushchenko, O; Zangoli, M; Zavertyaev, M; Zhang, F; Zhang, L; Zhang, W C; Zhang, Y; Zhelezov, A; Zhokhov, A; Zhong, L; Zvyagin, A

2014-03-07

Decays of B(s)(0) and B(0) mesons into J/ψ π+π-π+π- final states, produced in pp collisions at the LHC, are investigated using data corresponding to an integrated luminosity of 3 fb-1 collected with the LHCb detector. B(s)(0) → J/ψ f1(1285) decays are seen for the first time, and the branching fractions are measured. Using these rates, the f1(1285) mixing angle between strange and nonstrange components of its wave function in the qq structure model is determined to be ±(24.0-2.6-0.8+3.1+0.6)°. Implications on the possible tetraquark nature of the f1(1285) are discussed.

Asymmetric distribution of pl10 and bruno2, new members of a conserved core of early germline determinants in cephalochordates

Directory of Open Access Journals (Sweden)

Simon eDailey

2016-01-01

Full Text Available Molecular fingerprinting of conserved germline and somatic ¨stemness¨ markers in different taxa have been key in defining the mechanism of germline specification (preformation or epigenesis, as well as expression domains of somatic progenitors. The distribution of molecular markers for primordial germ cells (PGCs, including vasa, nanos and piwil1, as well as Vasa antibody staining, support a determinative mechanism of germline specification in the cephalochordate Branchiostoma lanceolatum, similarly to other amphioxus species. pl10 and bruno2, but not bruno4/6, are also expressed in a pattern consistent with these other germline genes, adding to our repertoire of PGC markers in lancelets. Expression of nanos, vasa and the remaining markers (musashi, pufA, pufB, pumilio and piwil2 may define populations of putative somatic progenitors in the tailbud, the amphioxus posterior growth zone, or zones of proliferative activity. Finally, we also identify a novel expression domain for musashi, a classic neural stem cell marker, during notochord development in amphioxus. These results are discussed in the context of germline determination in other taxa, stem cell regulation and regenerative capacity in adult amphioxus.

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

Science.gov (United States)

Cherny, Nathan I

2012-01-01

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

Adoptive paternal age and risk of psychosis in adoptees: a register based cohort study.

Directory of Open Access Journals (Sweden)

Mats Ek

Full Text Available The association between advancing paternal age and increased risk of schizophrenia in the off-spring is well established. The underlying mechanisms are unknown. In order to investigate whether the psychosocial environment associated with growing up with an aged father explains the increased risk we conducted a study of all adoptive children in Sweden from 1955-1985 (n =31 188. Their risk of developing schizophrenia or non-affective psychosis in relation to advancing age of their adoptive fathers' was examined. We found no association between risk of psychoses and advancing adoptive paternal age. There was no support of psychosocial environmental factors explaining the "paternal age effect".

In Genes We Trust: Germline Engineering, Eugenics, and the Future of the Human Genome.

Science.gov (United States)

Powell, Russell

2015-12-01

Liberal proponents of genetic engineering maintain that developing human germline modification technologies is morally desirable because it will result in a net improvement in human health and well-being. Skeptics of germline modification, in contrast, fear evolutionary harms that could flow from intervening in the human germline, and worry that such programs, even if well intentioned, could lead to a recapitulation of the scientifically and morally discredited projects of the old eugenics. Some bioconservatives have appealed as well to the value of retaining our "given" human biological nature as a reason for restraining the development and use of human genetic modification technologies even where they would tend to increase well-being. In this article, I argue that germline intervention will be necessary merely to sustain the levels of genetic health that we presently enjoy for future generations-a goal that should appeal to bioliberals and bioconservatives alike. This is due to the population-genetic consequences of relaxed selection pressures in human populations caused by the increasing efficacy and availability of conventional medicine. This heterodox conclusion, which I present as a problem of intergenerational justice, has been overlooked in medicine and bioethics due to certain misconceptions about human evolution, which I attempt to rectify, as well as the sordid history of Darwinian approaches to medicine and social policy, which I distinguish from the present argument. © The Author 2015. Published by Oxford University Press, on behalf of the Journal of Medicine and Philosophy Inc. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

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

Science.gov (United States)

McCullough, Laurence B

2011-02-01

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

Habitat geometry does not affect levels of extrapair paternity in an extremely unfaithful fairy-wren

NARCIS (Netherlands)

Brouwer, L.; Van de Pol, M.; Cockburn, A.

2014-01-01

Density of potential mates has often been proposed to explain the enormous variation in extrapair paternity. However, density is often confounded by other ecological factors that might affect extrapair paternity in their own way. Furthermore, extrapair mating shows strong phylogenetic inertia,

DAF-16 and TCER-1 Facilitate Adaptation to Germline Loss by Restoring Lipid Homeostasis and Repressing Reproductive Physiology in C. elegans

Science.gov (United States)

Amrit, Francis Raj Gandhi; Steenkiste, Elizabeth Marie; Ratnappan, Ramesh; Chen, Shaw-Wen; McClendon, T. Brooke; Kostka, Dennis; Yanowitz, Judith; Olsen, Carissa Perez; Ghazi, Arjumand

2016-01-01

Elimination of the proliferating germline extends lifespan in C. elegans. This phenomenon provides a unique platform to understand how complex metazoans retain metabolic homeostasis when challenged with major physiological perturbations. Here, we demonstrate that two conserved transcription regulators essential for the longevity of germline-less adults, DAF-16/FOXO3A and TCER-1/TCERG1, concurrently enhance the expression of multiple genes involved in lipid synthesis and breakdown, and that both gene classes promote longevity. Lipidomic analyses revealed that key lipogenic processes, including de novo fatty acid synthesis, triglyceride production, desaturation and elongation, are augmented upon germline removal. Our data suggest that lipid anabolic and catabolic pathways are coordinately augmented in response to germline loss, and this metabolic shift helps preserve lipid homeostasis. DAF-16 and TCER-1 also perform essential inhibitory functions in germline-ablated animals. TCER-1 inhibits the somatic gene-expression program that facilitates reproduction and represses anti-longevity genes, whereas DAF-16 impedes ribosome biogenesis. Additionally, we discovered that TCER-1 is critical for optimal fertility in normal adults, suggesting that the protein acts as a switch supporting reproductive fitness or longevity depending on the presence or absence of the germline. Collectively, our data offer insights into how organisms adapt to changes in reproductive status, by utilizing the activating and repressive functions of transcription factors and coordinating fat production and degradation. PMID:26862916

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

Science.gov (United States)

Weiss, Jennifer; Teuscher, David

2016-09-01

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

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

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Patricia Horn

2017-12-01

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

Measurement of the CP violating phase $\\phi_s$ in $\\overline{B}^0_s \\to J/\\psi f_0(980)$

CERN Document Server

Aaij, R.; Adeva, B.; Adinolfi, M.; Adrover, C.; Affolder, A.; Ajaltouni, Z.; Albrecht, J.; Alessio, F.; Alexander, M.; Alkhazov, G.; Alvarez Cartelle, P.; Alves Jr, A.A.; Amato, S.; Amhis, Y.; Anderson, J.; Appleby, R.B.; Aquines Gutierrez, O.; Archilli, F.; Arrabito, L.; Artamonov, A.; Artuso, M.; Aslanides, E.; Auriemma, G.; Bachmann, S.; Back, J.J.; Bailey, D.S.; Balagura, V.; Baldini, W.; Barlow, R.J.; Barschel, C.; Barsuk, S.; Barter, W.; Bates, A.; Bauer, C.; Bauer, Th.; Bay, A.; Bediaga, I.; Belogurov, S.; Belous, K.; Belyaev, I.; Ben-Haim, E.; Benayoun, M.; Bencivenni, G.; Benson, S.; Benton, J.; Bernet, R.; Bettler, M.O.; van Beuzekom, M.; Bien, A.; Bifani, S.; Bird, T.; Bizzeti, A.; Bjornstad, P.M.; Blake, T.; Blanc, F.; Blanks, C.; Blouw, J.; Blusk, S.; Bobrov, A.; Bocci, V.; Bondar, A.; Bondar, N.; Bonivento, W.; Borghi, S.; Borgia, A.; Bowcock, T.J.V.; Bozzi, C.; Brambach, T.; van den Brand, J.; Bressieux, J.; Brett, D.; Britsch, M.; Britton, T.; Brook, N.H.; Brown, H.; Buchler-Germann, A.; Burducea, I.; Bursche, A.; Buytaert, J.; Cadeddu, S.; Callot, O.; Calvi, M.; Calvo Gomez, M.; Camboni, A.; Campana, P.; Carbone, A.; Carboni, G.; Cardinale, R.; Cardini, A.; Carson, L.; Carvalho Akiba, K.; Casse, G.; Cattaneo, M.; Cauet, Ch.; Charles, M.; Charpentier, Ph.; Chiapolini, N.; Ciba, K.; Cid Vidal, X.; Ciezarek, G.; Clarke, P.E.L.; Clemencic, M.; Cliff, H.V.; Closier, J.; Coca, C.; Coco, V.; Cogan, J.; Collins, P.; Comerma-Montells, A.; Constantin, F.; Contu, A.; Cook, A.; Coombes, M.; Corti, G.; Cowan, G.A.; Currie, R.; D'Ambrosio, C.; David, P.; David, P.N.Y.; De Bonis, I.; De Capua, S.; De Cian, M.; De Lorenzi, F.; De Miranda, J.M.; De Paula, L.; De Simone, P.; Decamp, D.; Deckenhoff, M.; Degaudenzi, H.; Del Buono, L.; Deplano, C.; Derkach, D.; Deschamps, O.; Dettori, F.; Dickens, J.; Dijkstra, H.; Diniz Batista, P.; Domingo Bonal, F.; Donleavy, S.; Dordei, F.; Dosil Suarez, A.; Dossett, D.; Dovbnya, A.; Dupertuis, F.; Dzhelyadin, R.; Dziurda, A.; Easo, S.; Egede, U.; Egorychev, V.; Eidelman, S.; van Eijk, D.; Eisele, F.; Eisenhardt, S.; Ekelhof, R.; Eklund, L.; Elsasser, Ch.; Elsby, D.; Esperante Pereira, D.; Esteve, L.; Falabella, A.; Fanchini, E.; Farber, C.; Fardell, G.; Farinelli, C.; Farry, S.; Fave, V.; Fernandez Albor, V.; Ferro-Luzzi, M.; Filippov, S.; Fitzpatrick, C.; Fontana, M.; Fontanelli, F.; Forty, R.; Frank, M.; Frei, C.; Frosini, M.; Furcas, S.; Gallas Torreira, A.; Galli, D.; Gandelman, M.; Gandini, P.; Gao, Y.; Garnier, J-C.; Garofoli, J.; Garra Tico, J.; Garrido, L.; Gascon, D.; Gaspar, C.; Gauvin, N.; Gersabeck, M.; Gershon, T.; Ghez, Ph.; Gibson, V.; Gligorov, V.V.; Gobel, C.; Golubkov, D.; Golutvin, A.; Gomes, A.; Gordon, H.; Grabalosa Gandara, M.; Graciani Diaz, R.; Granado Cardoso, L.A.; Grauges, E.; Graziani, G.; Grecu, A.; Greening, E.; Gregson, S.; Gui, B.; Gushchin, E.; Guz, Yu.; Gys, T.; Haefeli, G.; Haen, C.; Haines, S.C.; Hampson, T.; Hansmann-Menzemer, S.; Harji, R.; Harnew, N.; Harrison, J.; Harrison, P.F.; Hartmann, T.; He, J.; Heijne, V.; Hennessy, K.; Henrard, P.; Hernando Morata, J.A.; van Herwijnen, E.; Hicks, E.; Holubyev, K.; Hopchev, P.; Hulsbergen, W.; Hunt, P.; Huse, T.; Huston, R.S.; Hutchcroft, D.; Hynds, D.; Iakovenko, V.; Ilten, P.; Imong, J.; Jacobsson, R.; Jaeger, A.; Jahjah Hussein, M.; Jans, E.; Jansen, F.; Jaton, P.; Jean-Marie, B.; Jing, F.; John, M.; Johnson, D.; Jones, C.R.; Jost, B.; Kaballo, M.; Kandybei, S.; Karacson, M.; Karbach, T.M.; Keaveney, J.; Kenyon, I.R.; Kerzel, U.; Ketel, T.; Keune, A.; Khanji, B.; Kim, Y.M.; Knecht, M.; Koppenburg, P.; Kozlinskiy, A.; Kravchuk, L.; Kreplin, K.; Kreps, M.; Krocker, G.; Krokovny, P.; Kruse, F.; Kruzelecki, K.; Kucharczyk, M.; Kvaratskheliya, T.; La Thi, V.N.; Lacarrere, D.; Lafferty, G.; Lai, A.; Lambert, D.; Lambert, R.W.; Lanciotti, E.; Lanfranchi, G.; Langenbruch, C.; Latham, T.; Lazzeroni, C.; Le Gac, R.; van Leerdam, J.; Lees, J.P.; Lefevre, R.; Leflat, A.; Lefrancois, J.; Leroy, O.; Lesiak, T.; Li, L.; Li Gioi, L.; Lieng, M.; Liles, M.; Lindner, R.; Linn, C.; Liu, B.; Liu, G.; von Loeben, J.; Lopes, J.H.; Lopez Asamar, E.; Lopez-March, N.; Lu, H.; Luisier, J.; Mac Raighne, A.; Machefert, F.; Machikhiliyan, I.V.; Maciuc, F.; Maev, O.; Magnin, J.; Malde, S.; Mamunur, R.M.D.; Manca, G.; Mancinelli, G.; Mangiafave, N.; Marconi, U.; Marki, R.; Marks, J.; Martellotti, G.; Martens, A.; Martin, L.; Martin Sanchez, A.; Martinez Santos, D.; Massafferri, A.; Mathe, Z.; Matteuzzi, C.; Matveev, M.; Maurice, E.; Maynard, B.; Mazurov, A.; McGregor, G.; McNulty, R.; Meissner, M.; Merk, M.; Merkel, J.; Messi, R.; Miglioranzi, S.; Milanes, D.A.; Minard, M.N.; Molina Rodriguez, J.; Monteil, S.; Moran, D.; Morawski, P.; Mountain, R.; Mous, I.; Muheim, F.; Muller, K.; Muresan, R.; Muryn, B.; Muster, B.; Musy, M.; Mylroie-Smith, J.; Naik, P.; Nakada, T.; Nandakumar, R.; Nasteva, I.; Nedos, M.; Needham, M.; Neufeld, N.; Nguyen-Mau, C.; Nicol, M.; Niess, V.; Nikitin, N.; Nomerotski, A.; Novoselov, A.; Oblakowska-Mucha, A.; Obraztsov, V.; Oggero, S.; Ogilvy, S.; Okhrimenko, O.; Oldeman, R.; Orlandea, M.; Otalora Goicochea, J.M.; Owen, P.; Pal, K.; Palacios, J.; Palano, A.; Palutan, M.; Panman, J.; Papanestis, A.; Pappagallo, M.; Parkes, C.; Parkinson, C.J.; Passaleva, G.; Patel, G.D.; Patel, M.; Paterson, S.K.; Patrick, G.N.; Patrignani, C.; Pavel-Nicorescu, C.; Pazos Alvarez, A.; Pellegrino, A.; Penso, G.; Pepe Altarelli, M.; Perazzini, S.; Perego, D.L.; Perez Trigo, E.; Perez-Calero Yzquierdo, A.; Perret, P.; Perrin-Terrin, M.; Pessina, G.; Petrella, A.; Petrolini, A.; Phan, A.; Picatoste Olloqui, E.; Pie Valls, B.; Pietrzyk, B.; Pilar, T.; Pinci, D.; Plackett, R.; Playfer, S.; Plo Casasus, M.; Polok, G.; Poluektov, A.; Polycarpo, E.; Popov, D.; Popovici, B.; Potterat, C.; Powell, A.; Prisciandaro, J.; Pugatch, V.; Puig Navarro, A.; Qian, W.; Rademacker, J.H.; Rakotomiaramanana, B.; Rangel, M.S.; Raniuk, I.; Raven, G.; Redford, S.; Reid, M.M.; dos Reis, A.C.; Ricciardi, S.; Rinnert, K.; Roa Romero, D.A.; Robbe, P.; Rodrigues, E.; Rodrigues, F.; Rodriguez Perez, P.; Rogers, G.J.; Roiser, S.; Romanovsky, V.; Rosello, M.; Rouvinet, J.; Ruf, T.; Ruiz, H.; Sabatino, G.; Saborido Silva, J.J.; Sagidova, N.; Sail, P.; Saitta, B.; Salzmann, C.; Sannino, M.; Santacesaria, R.; Santamarina Rios, C.; Santinelli, R.; Santovetti, E.; Sapunov, M.; Sarti, A.; Satriano, C.; Satta, A.; Savrie, M.; Savrina, D.; Schaack, P.; Schiller, M.; Schleich, S.; Schlupp, M.; Schmelling, M.; Schmidt, B.; Schneider, O.; Schopper, A.; Schune, M.H.; Schwemmer, R.; Sciascia, B.; Sciubba, A.; Seco, M.; Semennikov, A.; Senderowska, K.; Sepp, I.; Serra, N.; Serrano, J.; Seyfert, P.; Shapkin, M.; Shapoval, I.; Shatalov, P.; Shcheglov, Y.; Shears, T.; Shekhtman, L.; Shevchenko, O.; Shevchenko, V.; Shires, A.; Silva Coutinho, R.; Skwarnicki, T.; Smith, A.C.; Smith, N.A.; Smith, E.; Sobczak, K.; Soler, F.J.P.; Solomin, A.; Soomro, F.; Souza De Paula, B.; Spaan, B.; Sparkes, A.; Spradlin, P.; Stagni, F.; Stahl, S.; Steinkamp, O.; Stoica, S.; Stone, S.; Storaci, B.; Straticiuc, M.; Straumann, U.; Subbiah, V.K.; Swientek, S.; Szczekowski, M.; Szczypka, P.; Szumlak, T.; T'Jampens, S.; Teodorescu, E.; Teubert, F.; Thomas, C.; Thomas, E.; van Tilburg, J.; Tisserand, V.; Tobin, M.; Topp-Joergensen, S.; Torr, N.; Tournefier, E.; Tran, M.T.; Tsaregorodtsev, A.; Tuning, N.; Ubeda Garcia, M.; Ukleja, A.; Urquijo, P.; Uwer, U.; Vagnoni, V.; Valenti, G.; Vazquez Gomez, R.; Vazquez Regueiro, P.; Vecchi, S.; Velthuis, J.J.; Veltri, M.; Viaud, B.; Videau, I.; Vilasis-Cardona, X.; Visniakov, J.; Vollhardt, A.; Volyanskyy, D.; Voong, D.; Vorobyev, A.; Voss, H.; Wandernoth, S.; Wang, J.; Ward, D.R.; Watson, N.K.; Webber, A.D.; Websdale, D.; Whitehead, M.; Wiedner, D.; Wiggers, L.; Wilkinson, G.; Williams, M.P.; Williams, M.; Wilson, F.F.; Wishahi, J.; Witek, M.; Witzeling, W.; Wotton, S.A.; Wyllie, K.; Xie, Y.; Xing, F.; Xing, Z.; Yang, Z.; Young, R.; Yushchenko, O.; Zavertyaev, M.; Zhang, F.; Zhang, L.; Zhang, W.C.; Zhang, Y.; Zhelezov, A.; Zhong, L.; Zverev, E.

2012-01-01

Measurement of mixing-induced $CP$ violation in $\\overline{B}^0_s$ decays is of prime importance in probing new physics. So far only the channel $\\overline{B}^0_s\\to J/\\psi\\phi$ has been used. Here we report on a measurement using an LHCb data sample of 0.41\\,fb$^{-1}$, in the $CP$ odd eigenstate $J/\\psi f_0(980)$, where $f_0(980)\\to\\pi^+\\pi^-$. A time dependent fit of the data with the $\\overline{B}^0_s$ lifetime and the difference in widths of the heavy and light eigenstates constrained to the values obtained from $\\overline{B}^0_s \\to J/\\psi\\phi$ yields a value of the $CP$ violating phase of $-0.44\\pm 0.44\\pm0.02~{\\rm\\,rad}$, consistent with the Standard Model expectation.

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

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Kessler Sharon E

2012-11-01

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

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

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Shenk, Mary K; Scelza, Brooke A

2012-09-01

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

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

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

2011-09-01

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

High-pressure studies of superconductivity in BiO0.75F0.25BiS2

Indian Academy of Sciences (India)

2017-09-25

Sep 25, 2017 ... The upper critical field Hc2(0) is greater than 3 T, which is higher than earlier report on this material. ... in Tc of LaO0.5F0.5BiS2 is accompanied by a structural phase transition .... and it follows the same model of Arrhenius-type thermally activated .... GST thank UGC and CSIR, respectively, for a fellowship.

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

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Schneider, Nayê Balzan; Pastor, Tatiane; Paula, André Escremim de; Achatz, Maria Isabel; Santos, Ândrea Ribeiro Dos; Vianna, Fernanda Sales Luiz; Rosset, Clévia; Pinheiro, Manuela; Ashton-Prolla, Patricia; Moreira, Miguel Ângelo Martins; Palmero, Edenir Inêz

2018-05-01

Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by germline mutations in one of the major genes involved in mismatch repair (MMR): MLH1, MSH2, MSH6 and more rarely, PMS2. Recently, germline deletions in EPCAM have been also associated to the syndrome. Most of the pathogenic MMR mutations found in LS families occur in MLH1 or MSH2. Gene variants include missense, nonsense, frameshift mutations, large genomic rearrangements and splice-site variants and most of the studies reporting the molecular characterization of LS families have been conducted outside South America. In this study, we analyzed 60 unrelated probands diagnosed with colorectal cancer and LS criteria. Testing for germline mutations and/or rearrangements in the most commonly affected MMR genes (MLH1, MSH2, EPCAM and MSH6) was done by Sanger sequencing and MLPA. Pathogenic or likely pathogenic variants were identified in MLH1 or MSH2 in 21 probands (35.0%). Of these, approximately one-third were gene rearrangements. In addition, nine variants of uncertain significance (VUS) were identified in 10 (16.6%) of the sixty probands analyzed. Other four novel variants were identified, only in MLH1. Our results suggest that MSH6 pathogenic variants are not common among Brazilian LS probands diagnosed with CRC and that MMR gene rearrangements account for a significant proportion of the germline variants in this population underscoring the need to include rearrangement analysis in the molecular testing of Brazilian individuals with suspected Lynch syndrome. © 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

Complete lift of a structure satisfying FK−(−K+1F=0

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Lovejoy S. Das

1992-01-01

Full Text Available The idea of f-structure manifold on a differentiable manifold was initiated and developed by Yano [1], Ishihara and Yano [2], Goldberg [3] and among others. The horizontal and complete lifts from a differentiable manifold Mn of class C∞ to its cotangent bundles have been studied by Yano and Patterson [4,5]. Yano and Ishihara [6] have studied lifts of an f-structure in the tangent and cotangent bundles. The purpose of this paper is to obtain integrability conditions of a structure satisfying FK−(−K+1F=0 and FW−(−W+1F≠0 for 1

High-pressure studies of superconductivity in BiO0. 75F0. 25BiS2

Indian Academy of Sciences (India)

Home; Journals; Bulletin of Materials Science; Volume 40; Issue 6. High-pressure studies of superconductivity in BiO 0.75 F 0.25 BiS 2. ZEBA HAQUE GOHIL S THAKUR GANESAN KALAI SELVAN SONACHALAM ARUMUGAM L C GUPTA A K GANGULI. Volume 40 Issue 6 October 2017 pp 1121-1125 ...

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

Science.gov (United States)

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

2013-06-25

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

Impact of germline and somatic missense variations on drug binding sites.

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Yan, C; Pattabiraman, N; Goecks, J; Lam, P; Nayak, A; Pan, Y; Torcivia-Rodriguez, J; Voskanian, A; Wan, Q; Mazumder, R

2017-03-01

Advancements in next-generation sequencing (NGS) technologies are generating a vast amount of data. This exacerbates the current challenge of translating NGS data into actionable clinical interpretations. We have comprehensively combined germline and somatic nonsynonymous single-nucleotide variations (nsSNVs) that affect drug binding sites in order to investigate their prevalence. The integrated data thus generated in conjunction with exome or whole-genome sequencing can be used to identify patients who may not respond to a specific drug because of alterations in drug binding efficacy due to nsSNVs in the target protein's gene. To identify the nsSNVs that may affect drug binding, protein-drug complex structures were retrieved from Protein Data Bank (PDB) followed by identification of amino acids in the protein-drug binding sites using an occluded surface method. Then, the germline and somatic mutations were mapped to these amino acids to identify which of these alter protein-drug binding sites. Using this method we identified 12 993 amino acid-drug binding sites across 253 unique proteins bound to 235 unique drugs. The integration of amino acid-drug binding sites data with both germline and somatic nsSNVs data sets revealed 3133 nsSNVs affecting amino acid-drug binding sites. In addition, a comprehensive drug target discovery was conducted based on protein structure similarity and conservation of amino acid-drug binding sites. Using this method, 81 paralogs were identified that could serve as alternative drug targets. In addition, non-human mammalian proteins bound to drugs were used to identify 142 homologs in humans that can potentially bind to drugs. In the current protein-drug pairs that contain somatic mutations within their binding site, we identified 85 proteins with significant differential gene expression changes associated with specific cancer types. Information on protein-drug binding predicted drug target proteins and prevalence of both somatic and

Male rhesus macaques use vocalizations to distinguish female maternal, but not paternal, kin from non-kin.

Science.gov (United States)

Pfefferle, Dana; Ruiz-Lambides, Angelina V; Widdig, Anja

Recognizing close kin and adjusting one's behavior accordingly (i.e., favor kin in social interactions, but avoid mating with them) would be an important skill that can increase an animals' inclusive fitness. Previous studies showed that philopatric female rhesus macaques ( Macaca mulatta ) bias their social behavior toward maternal and paternal kin. Benefits gained from selecting kin should, however, not only apply to the philopatric sex, for which the enduring spatial proximity facilitates kin discrimination. Given that dispersal is costly, the dispersing sex may benefit from migrating together with their kin or into groups containing kin. In male rhesus macaques, natal migrants bias their spatial proximity toward familiar male kin rather than familiar non-kin. Here, we set up playback experiments to test if males use the acoustic modality to discriminate familiar female kin from non-kin in a non-sexual context. Males responded differently to the presentation of "coo" calls of related and unrelated females, with their reaction depending on the interaction between kin-line (maternal vs paternal kin) and degree of relatedness ( r  = 0.5, 0.25). Specifically, males were more likely to respond to close kin compared to more distant kin or unrelated females, with this effect being significant in the maternal, but not paternal kin-line. The present study adds to our knowledge of kin recognition abilities of the dispersing sex, suggesting that male rhesus macaques are also able to identify kin using the acoustic modality. We discuss that the probability of response might be affected by the potential benefit of the social partner.

Dielectric, Piezoelectric, and Vibration Properties of the LiF-Doped (Ba0.95Ca0.05(Ti0.93Sn0.07O3 Lead-Free Piezoceramic Sheets

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Chien-Min Cheng

2018-01-01

Full Text Available By the conventional solid state reaction method, a small amount of lithium fluoride (LiF was used as the sintering promoter to improve the sintering and piezoelectric characteristics of (Ba0.95Ca0.05(Ti0.93Sn0.07O3 (BCTS lead-free piezoceramic sheets. Using X-ray diffraction (XRD and a scanning electron microscope (SEM, the inferences of the crystalline and surface microstructures were obtained and analyzed. Then, the impedance analyzer and d33-meter were used to measure the dielectric and piezoelectric characteristics. In this study, the optimum sintering temperature of the BCTS sheets decreased from 1450 °C to 1390 °C due to LiF doping. For the 0.07 wt % LiF-doped BCTS sheets sintered at 1390 °C, the piezoelectric constant (d33 is 413 pC/N, the electric–mechanical coupling coefficient (kp is 47.5%, the dielectric loss (tan δ is 3.9%, and the dielectric constant (εr is 8100, which are all close to or even better than that of the pure undoped BCTS ceramics. The Curie temperature also improved, from 85 °C for pure BCTS to 140 °C for BCTS–0.07 LiF sheets. Furthermore, by using the vibration system and fixing 1.5 g tip mass at the end of the sheets, as the vibration frequency is 20 Hz, the proposed piezoelectric ceramic sheets also reveal a good energy harvesting performance at the maximum output peak voltage of 4.6 V, which is large enough and can be applied in modern low-power electronic products.

Paternal age in relation to offspring intelligence in the West of Scotland Twenty-07 prospective cohort study.

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Elise Whitley

Full Text Available BACKGROUND: The adverse effects of advancing maternal age on offspring's health and development are well understood. Much less is known about the impact of paternal age. METHODS: We explored paternal age-offspring cognition associations in 772 participants from the West of Scotland Twenty-07 study. Offspring cognitive ability was assessed using Part 1 of the Alice Heim 4 (AH4 test of General Intelligence and by reaction time (RT. RESULTS: There was no evidence of a parental age association with offspring RT. However, we observed an inverse U-shaped association between paternal age and offspring AH4 score with the lowest scores observed for the youngest and oldest fathers. Adjustment for parental education and socioeconomic status somewhat attenuated this association. Adjustment for number of, particularly older, siblings further reduced the scores of children of younger fathers and appeared to account for the lower offspring scores in the oldest paternal age group. CONCLUSION: We observed a paternal age association with AH4 but not RT, a measure of cognition largely independent of social and educational experiences. Factors such as parental education, socioeconomic status and number of, particularly older, siblings may play an important role in accounting for paternal age-AH4 associations. Future studies should include parental intelligence.

Securing Paternity by Mutilating Female Genitalia in Spiders.

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

2015-11-16

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

No evidence of extra-pair paternity in a colonial seabird, the common tern (Sterna hirundo)

DEFF Research Database (Denmark)

Griggio, M.; Matessi, Giuliano; Marin, G.

2004-01-01

The incidence of extra-pair paternity and egg dumping was investigated in a colony of common terns (Sterna hirundo), a colonial seabird, in the Venetian lagoon. Ten families were sampled and multilocus DNA fingerprinting analysis was performed. No indication of extra-pair paternity or egg dumping...

Subset of Kappa and Lambda Germline Sequences Result in Light Chains with a Higher Molecular Mass Phenotype.

Science.gov (United States)

Barnidge, David R; Lundström, Susanna L; Zhang, Bo; Dasari, Surendra; Murray, David L; Zubarev, Roman A

2015-12-04

In our previous work, we showed that electrospray ionization of intact polyclonal kappa and lambda light chains isolated from normal serum generates two distinct, Gaussian-shaped, molecular mass distributions representing the light-chain repertoire. During the analysis of a large (>100) patient sample set, we noticed a low-intensity molecular mass distribution with a mean of approximately 24 250 Da, roughly 800 Da higher than the mean of the typical kappa molecular-mass distribution mean of 23 450 Da. We also observed distinct clones in this region that did not appear to contain any typical post-translational modifications that would account for such a large mass shift. To determine the origin of the high molecular mass clones, we performed de novo bottom-up mass spectrometry on a purified IgM monoclonal light chain that had a calculated molecular mass of 24 275.03 Da. The entire sequence of the monoclonal light chain was determined using multienzyme digestion and de novo sequence-alignment software and was found to belong to the germline allele IGKV2-30. The alignment of kappa germline sequences revealed ten IGKV2 and one IGKV4 sequences that contained additional amino acids in their CDR1 region, creating the high-molecular-mass phenotype. We also performed an alignment of lambda germline sequences, which showed additional amino acids in the CDR2 region, and the FR3 region of functional germline sequences that result in a high-molecular-mass phenotype. The work presented here illustrates the ability of mass spectrometry to provide information on the diversity of light-chain molecular mass phenotypes in circulation, which reflects the germline sequences selected by the immunoglobulin-secreting B-cell population.

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

Science.gov (United States)

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)

Oyster vasa-like gene as a marker of the germline cell development in Crassostrea gigas

International Nuclear Information System (INIS)

Fabioux, C.; Huvet, A.; Lelong, C.; Robert, R.; Pouvreau, S.; Daniel, J.Y.; Minguant, C.; Le Pennec, M.

2004-01-01

The oyster vasa-like gene was previously demonstrated to be specifically expressed in germline cells of adult oysters Crassostrea gigas. In the present study, this gene was used as a molecular marker to establish the developmental pattern of germline cells during oyster ontogenesis, using whole-mount in situ hybridization and real-time PCR. The Oyvlg transcripts appeared to be localized to the vegetal pole of unfertilized oocytes and maternally transmitted to embryos. At early development, these maternal transcripts were observed to segregate into a single blastomere, from the CD macromere of 2-cell stage to the 4d mesentoblast of blastula. From late blastula stage, the mesentoblast divided into two cell clumps that migrated to both sides of the larvae body and that would correspond to primordial germ cells (PGCs). Based on these results, we postulate that the germline of C. gigas is specified at early development by maternal cytoplasmic determinants including Oyvlg mRNAs, in putative PGCs that would differentiate into germinal stem cells in juvenile oysters

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

Science.gov (United States)

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

2015-01-01

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

Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

Science.gov (United States)

Hirasawa, Akira; Imoto, Issei; Naruto, Takuya; Akahane, Tomoko; Yamagami, Wataru; Nomura, Hiroyuki; Masuda, Kiyoshi; Susumu, Nobuyuki; Tsuda, Hitoshi; Aoki, Daisuke

2017-12-22

Pathogenic germline BRCA1 , BRCA2 ( BRCA1/2 ), and several other gene variants predispose women to primary ovarian, fallopian tube, and peritoneal carcinoma (OC), although variant frequency and relevance information is scarce in Japanese women with OC. Using targeted panel sequencing, we screened 230 unselected Japanese women with OC from our hospital-based cohort for pathogenic germline variants in 75 or 79 OC-associated genes. Pathogenic variants of 11 genes were identified in 41 (17.8%) women: 19 (8.3%; BRCA1 ), 8 (3.5%; BRCA2 ), 6 (2.6%; mismatch repair genes), 3 (1.3%; RAD51D ), 2 (0.9%; ATM ), 1 (0.4%; MRE11A ), 1 ( FANCC ), and 1 ( GABRA6 ). Carriers of BRCA1/2 or any other tested gene pathogenic variants were more likely to be diagnosed younger, have first or second-degree relatives with OC, and have OC classified as high-grade serous carcinoma (HGSC). After adjustment for these variables, all 3 features were independent predictive factors for pathogenic variants in any tested genes whereas only the latter two remained for variants in BRCA1/2 . Our data indicate similar variant prevalence in Japanese patients with OC and other ethnic groups and suggest that HGSC and OC family history may facilitate genetic predisposition prediction in Japanese patients with OC and referring high-risk patients for genetic counseling and testing.

Crystal structure and magnetic properties of LaCa0.143 (4O0.857 (4F0.143 (4Bi0.857 (4S2

Directory of Open Access Journals (Sweden)

Rongtie Huang

2016-06-01

Full Text Available The synthesis, structure, and magnetic properties of lithium dibarium calcium oxide fluoride disulfide are reported. LaCa0.143 (4O0.857 (4F0.143 (4Bi0.857 (4S2 crystallizes in the tetragonal space group P4/nmm. The structure exhibits disorder of the Ca2+ and Bi3+ cations, and the O2− and F− anions. The structure is composed of a stacking of [(O,F2La2] layers and double [(Bi,CaS2] layers. Magnetic property measurements indicate a very small magnetization at 300 K and the existence of weak ferromagnetism at 2 K.

Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood.

Directory of Open Access Journals (Sweden)