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PubMed1988

A "selfish" B chromosome that enhances its transmission by eliminating the paternal genome.

In the parasitic wasp, Nasonia vitripennis, males are haploid and usually develop from unfertilized eggs, whereas females are diploid and develop from fertilized eggs. Some individuals in this species carry a genetic element, termed psr (paternal sex ratio), which is transmitted through sperm and causes condensation and subsequent loss of paternal chromosomes in fertilized eggs, thus converting diploid females into haploid males. In this report the psr trait was shown to be caused by a supernumerary chromosome. This B chromosome contains at least three repetitive DNA sequences that do not cross-hybridize to each other or to the host genome. The psr chromosome apparently produces a trans-acting product responsible for condensation of the paternal chromosomes, but is itself insensitive to the effect. Because the psr chromosome enhances its transmission by eliminating the rest of the genome, it can be considered the most "selfish" genetic element yet described.

Animals↗
PubMed1981

Multiple paternity in Belding's ground squirrel litters.

Sexually receptive female Spermophilus beldingi (Rodentia: Sciuridae) usually mate with several different males. The paternity of 27 litters born in 1977 and 1978 was ascertained by combining field observations of mating with laboratory paternity exclusion analyses. Most of the litters (78 percent) were multiply sired, usually by two or three males. This may be the highest frequency of multiple paternity ever directly demonstrated in a natural population.

Animals↗
PubMed1997

A 5' 2-kilobase-pair region of the imprinted mouse H19 gene exhibits exclusive paternal methylation throughout development.

The imprinted mouse H19 gene is hypermethylated on the inactive paternal allele in somatic tissues and sperm. Previous observations from a limited analysis have suggested that methylation of a few CpG dinucleotides in the region upstream from the start of transcription may be the mark that confers parental identity to the H19 alleles. Here we exploit bisulfite mutagenesis coupled with genomic sequencing to derive the methylation status of 68 CpGs that reside in a 4-kb region 5' to the start of transcription. This method reveals a 2-kb region positioned between 2 and 4 kb upstream from the start of transcription that is strikingly differentially methylated in midgestation embryos. At least 12 of the cytosine residues in this region are exclusively methylated on the paternal allele in blastocysts. In contrast, a 350-bp promoter-proximal region is less differentially methylated in midgestation embryos and, like most of the genome, is largely devoid of methylation on both alleles in blastocysts. We also demonstrate exclusive expression of the maternal H19 allele in the embryos that exhibit paternal methylation of the upstream 2-kb region. These data suggest that the 2-kb differentially methylated region acts as a key regulatory domain for imprinted H19 expression.

Alleles↗
PubMed2002

Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity.

Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14.

Abnormalities, Multiple↗
PubMed2001

Paternal contribution to birth weight.

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

Adult↗
PubMed1996

Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22.

The t(11;22) (q23;q11) translocation is the most frequently identified familial reciprocal translocation in humans. In translocation carriers, 3:1 meiotic segregation with tertiary trisomy can occur resulting in abnormal progeny with the der(22) as the supernumary chromosome. Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We have identified a child with developmental delay and multiple anomalies consistent with the der(22) phenotype. Cytogenetic analysis showed an abnormal chromosome complement of 47,XX,+der(22)t(11;22)(q23; q11) in all 50 cells analysed. FISH analysis using chromosome 11 and 22 painting probes showed a pattern consistent with a reciprocal translocation of the distal bands 11q23 and 22q11 respectively. Parental karyotypes were normal. RFLP analysis of locus D22S43, which maps above the t(11;22) breakpoint, showed that the der(22) was paternal in origin and indicated that the normal chromosomes 22 were the probable result of maternal heterodisomy. RFLP analysis of locus D22S94, which maps below the t(11;22) breakpoint, also suggested that both normal chromosomes 22 of the child represented the two maternal homologues. Non-paternity was excluded through the analysis of 10 microsatellite markers distributed on 10 different chromosomes and three VNTRs on three different chromosomes. To the best of our knowledge, this is the first reported case of a patient with an abnormal karyotype resulting from a de novo translocation in the paternal germline with probable unbalanced adjacent 1 segregation and maternal non-disjunction of chromosome 22 in meiosis I.

Abnormalities, Multiple↗
PubMed1999

Towards identification of individual homologous chromosomes: comparative genomic hybridization and spectral karyotyping discriminate between paternal and maternal euchromatin in Mus musculus x M. spretus interspecific hybrids.

We have developed an in situ technique to label individual euchromatic chromosome arms in interspecific crosses between Mus musculus (MMU) and M. spretus (MSP). The MMU and MSP genomes diverged 2-3 million years ago and show an overall sequence divergence of approximately 1%. Comparative hybridization of MMU versus MSP DNA and subsequent spectral analysis of the euchromatic hybridization profiles discriminated between maternal (MMU) and paternal (MSP) chromosomes in F(1) hybrids. Dispersed repetitive DNA elements were the preferred hybridization target of MMU DNA on maternal chromosomes and of MSP DNA on paternal chromosomes. Differences in centromeric satellite DNAs were detected by conventional fluorescence in situ hybridization and served as internal controls. Our experiments suggest that it is possible, in principle, to discriminate between paternal and maternal chromosomes on the basis of sequence differences.

Animals↗
PubMed2006

Non-invasive prenatal detection of paternal origin hb lepore in a male fetus at the 7th week of gestation.

OBJECTIVE: To perform a reliable non-invasive prenatal detection of the Hb Lepore paternal mutation and determine the fetal gender in the first trimester of pregnancy. METHODS: DNA was extracted from a serum sample obtained from a pregnant woman at the mid first trimester of gestation. Hb Lepore-specific, mutant and normal, primers as well as Y-chromosome-specific STSs were used to carry out the analysis. RESULTS: Paternal Hb Lepore and the DYS14 and DYZ1 gene-specific sequences were detected in the serum sample obtained at the 7th week of pregnancy. None of the above sequences was detectable in the maternal peripheral blood cell DNA. CONCLUSION: Conventional polymerase chain reaction analysis of cell-free fetal DNA can be used to determine fetal gender and paternal Hb Lepore as early as the 7th week of pregnancy.

Adult↗
PubMed2001

Exposure-response relationship between paternal smoking and children's pulmonary function.

We conducted a cross-sectional study to investigate paternal smoking and children's pulmonary function in rural communities of Anqing, China. Our analysis included 1,718 children 8 to 15 yr of age whose mothers were never-smokers. Multiple linear regression models were used to estimate the effect of paternal smoking on children's pulmonary function, with adjustment for children's age, sex, weight, height, square of height, asthma, and father's education. When compared with children of never-smoking fathers, children of smoking fathers had small, but detectable deficits in FEV(1) (-36 ml, SE = 20) and FVC (-37 ml, SE = 22). When children of smoking fathers were subdivided into two subgroups, father smoked < 30 cigarettes/day and >/= 30 cigarettes/day, we found that children whose fathers smoked >/= 30 cigarettes/day had the largest deficits in both FEV(1) (-79 ml, SE = 30) and FVC (-71 ml, SE = 34). This monotonic exposure-response relationship remained in all strata when we further stratified our analysis by children's sex and asthma status. Our data also suggested that the relationship was greatest among nonasthmatic girls, although neither sex nor asthma interaction terms were statistically significant. We conclude that there is a monotonic exposure-response relationship between paternal smoking and decline of pulmonary function in children in this rural Chinese population.

Adolescent↗
PubMed1989

Concordance by sex in sibling pairs with schizophrenia is paternally inherited. Evidence for a pseudoautosomal locus.

The hypothesis that the gene for schizophrenia is located in the pseudoautosomal region of the sex chromosomes predicts that same-sex concordance will occur in paternally rather than maternally derived pairs. In 120 families that included at least one sibling pair with schizophrenia, affected members were significantly more likely to be of the same sex when there was a history of illness on the paternal than on the maternal side, the difference remaining significant when parent of origin was assessed by three different methods. The finding is as predicted by the pseudoautosomal hypothesis: therefore a search for the gene should be focused on this small (three megabase) region of the genome. The ratio of same to mixed sex pairs in paternally-derived cases (approximately 3:1) suggests the gene is located in the centromeric one-third of the pseudoautosomal region.

Adult↗
PubMed2000

The influence of autonomy and paternalism on communicative behaviors in mother-daughter relationships prior to dependency.

Parents and their adult children rarely have discussions regarding caregiving preferences, especially before the onset of dependency. Families develop decision-making practices during caregiving, ideally, ones that maintain the care recipient's autonomy. Maintaining autonomy is essential because limiting autonomy leads to potentially negative health consequences. This study examined the attitudes of older, independent mothers and their adult daughters (n = 36 dyads) as well as their communication behaviors during decision making. All the mothers and daughters (100%) held strong beliefs in shared autonomy. Mothers (55.6%) and daughters (58.3%) were about evenly split in their strength of belief in independent autonomy. More mothers (63.9%) held strong beliefs in paternalism than did daughters (36.1%). In their conversations, daughters talked more when the mother and daughter held stronger beliefs in paternalism. These findings suggest that an individual's attitudes toward paternalism influence who controls conversations between parents and their adult children regarding caregiving, even before the parent has begun to show any signs of dependency. Once caregiving begins, it can be too late to change already ingrained patterns of decision making. Although this study takes a step toward establishing an understanding of how families develop decision-making processes utilized during caregiving, the sample size and composition limit generalizability. Future studies should follow families, as the parents make the transition from independence to dependence, to develop a better understanding of the factors involved in successfully making such a critical transition in the family's life.

Adult↗
PubMed2006

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.

CONTEXT: Obesity is a prominent feature of Albright hereditary osteodystrophy (AHO), a disorder caused by heterozygous GNAS mutations that disrupt the stimulatory G protein alpha-subunit Galpha(s). Because Galpha(s) is paternally imprinted in certain hormone target tissues, maternal inheritance of AHO leads to multihormone resistance [pseudohypoparathyroidism type 1a (PHP1a)], whereas paternal inheritance leads to AHO alone [pseudopseudohypoparathyroidism (pseudoPHP)]. Classically, the obesity in AHO is described as occurring similarly in both conditions. SETTING: This observational study was conducted at the General Clinical Research Center, Johns Hopkins University School of Medicine; National Institutes of Health. PATIENTS: Fifty-three patients with AHO (40 with PHP1a and 13 with pseudoPHP) and two with progressive osseous heteroplasia were studied. MAIN OUTCOME MEASURES: Main outcome measures were weight and height sd score (SDS), body mass index (BMI) percentiles, and BMI z-scores. RESULTS: Patients with PHP1a had significantly greater mean weight SDS, BMI percentages, and BMI z-scores compared with patients with pseudoPHP. These differences in BMI were secondary to adipose content based on dual energy x-ray absorptiometry analysis. The mean BMI z-score +/- sem for PHP1a was 2.31 +/- 0.18 compared with 0.65 +/- 0.31 in pseudoPHP (P = 0.000032). Twenty-five of 40 (62.5%) patients with PHP1a had mean BMI z-scores greater than two SDS above the mean, whereas no patients with pseudoPHP had BMI z-scores in this range. CONCLUSIONS: Although the AHO phenotype for PHP1a and pseudoPHP has been thought to be similar, we have found that obesity is a more prominent feature in PHP1a than in pseudoPHP and that severe obesity is characteristic of PHP1a specifically. These findings may implicate paternal imprinting of Galpha(s) in the development of human obesity.

Adolescent↗
PubMed1996

Mouse embryos with paternal duplication of an imprinted chromosome 7 region die at midgestation and lack placental spongiotrophoblast.

Imprinted genomic regions have been defined by the production of mice with uniparental inheritance or duplication of homologous chromosome regions. With most of the genome investigated, paternal duplication of only distal chromosomes 7 and 12 results in the lack of offspring, and prenatal lethality is presumed. Aberrant expression of imprinted genes in these two autosomal regions is therefore strongly implicated in the periimplantation lethality of androgenetic embryos. We report that mouse embryos with paternal duplication of distal chromosome 7 (PatDup.d7) die at midgestation and lack placental spongiotrophoblast. Thus, the much earlier death of androgenones must involve paternal duplication of other autosomal regions, acting independently of or synergistically with PatDup.d7. The phenotype observed is similar, if not identical to, that resulting from mutation of the imprinted distal chromosome 7 gene, Mash2, which in normal midgestation embryos exhibits spongiotrophoblast-specific maternally active/paternally inactive (m+/p-) allelic expression. Thus, the simplest explanation for the PatDup.d7 phenotype is p-/p- expression of this gene. We also confirm that PatDup.d7 embryos lack H19 RNA and posses excess Igf2 RNA as might be expected from the parental-specific activities of these genes in normal embryos.

Animals↗
PubMed1998

Localization of genes encoding egg modifiers of paternal genome function to mouse chromosomes one and two.

It is now well established that genomic imprinting effects in mammals require a combination of epigenetic modifications imposed during gametogenesis and additional modifications imposed after fertilization. The earliest post-fertilization modifications to be imposed on the genome are those thought to be mediated by factors in the egg cytoplasm. Strain-dependent differences in the actions of these egg modifiers in mice reveal an important potential for genetic variability in the imprinting process, and also provide valuable genetic systems with which to identify some of the factors that participate in imprinting. Previous studies documented a strain-dependent difference in the modification of paternal genome function between the C57BL/6 and DBA/2 mouse strains. This difference is revealed as a difference in developmental potential of androgenetic embryos produced with eggs from females of the two strains by nuclear transplantation. The specificity of the effect for the paternal genome is consistent with an effect on imprinted genes. The egg phenotype is largely independent of the genotype of the fertilizing sperm, and the C57BL/6 phenotype is dominant in reciprocal F1 hybrids. Genetic studies demonstrated that the difference in egg phenotypes between the two strains is most likely controlled by two independently segregating loci. We now report the results of experiments in which the egg phenotypes of the available BxD recombinant inbred mouse strains have been determined. The results of the analysis are consistent with the two locus model, and we have identified candidate chromosomal locations for the two loci. These data demonstrate clearly that differences in how the egg cytoplasm modifies the incoming paternal genome are indeed genetically determined, and vary accordingly.

Animals↗
PubMed2002

Differential regulation of maternal and paternal chromosome condensation in mitotic zygotes.

A-kinase anchoring protein AKAP95 is implicated in somatic mitotic chromosome condensation by recruiting the condensin complex. Here, we report a differential regulation of condensation of maternal and paternal chromosomes mediated by AKAP95 in mitotic mouse zygotes. AKAP95 is synthesized upon oocyte activation, targeted to the female pronucleus and specifically associates with maternal chromosomes at mitosis. AKAP95 mRNA is highly restricted to the vicinity of the meiotic spindle in metaphase II oocytes. In vivo displacement of endogenous AKAP95 in female pronuclei by microinjection of competitor peptides and rescue experiments show that AKPA95 is required for recruitment of the mCAP-D2 condensin subunit to, and condensation of, maternal chromosomes. In contrast, AKAP95 is dispensable for mCAP-D2 recruitment to, and condensation of, paternal chromosomes. Our results indicate that at first embryonic mitosis, paternal chromosomes target condensins and condense independently of AKAP95, whereas maternal chromosomes require AKAP95 for condensin recruitment and condensation. We propose a concept whereby condensation of chromosomes in gametes, zygotes and somatic cells involves related but distinct mechanisms.

Adenosine Triphosphatases↗
PubMed2005

The glucose response to an oral fat tolerance test in young men with a paternal history of premature myocardial infarction: possible early indication of insulin resistance. The EARS 2 study.

BACKGROUND: Concentrations of cholesterol, triglycerides and glucose are higher in young men with a paternal history of premature myocardial infarction than in age- and sex-matched controls. AIM: To test the hypothesis that insulin resistance constitutes the biological expression of increased coronary risk in these subjects. DESIGN: A total of 407 male university students with a paternal history of premature myocardial infarction (cases) and 415 age- and sex-matched controls were investigated for differences in insulin sensitivity. METHODS: Four methods of assessing insulin sensitivity were used: (i) insulin and glucose responses to an oral glucose tolerance test (OGTT); (ii) insulin and glucose responses to an oral fat tolerance test (OFTT); (iii) minimal modelling of insulin and glucose data from a frequent sample intravenous glucose tolerance test performed on a subset of 55 cases and 50 controls and (iv) homeostasis model assessment (HOMA) of insulin resistance. RESULTS: The OFTT glucose response discriminated between cases and controls, with a smaller fall in glucose in cases compared with controls. The negative area under the glucose curve (AUC) (mean [standard error of the mean (SEM)]) was -1.42 (0.09) mmol min/L in cases and -1.76 (0.09) in controls (P = 0.004). Peak height (mean [SEM]) was -0.65 (0.02) mmol/L in cases and -0.73 (0.02) in controls (P = 0.007). The insulin responses were similar in cases and controls. Insulin AUC (mean [SEM]) was 161 (10) mU min/L in cases and 148 (10) in controls (P = 0.34). This combination of findings suggests that insulin-stimulated glucose uptake was reduced in the cases. These findings were consistent across European regions. None of the other methods revealed any differences between cases and controls. CONCLUSION: In young men with a paternal history of myocardial infarction, an OFTT detects altered insulin sensitivity that is not identified by an OGTT, minimal modelling or HOMA.

Administration, Oral↗
PubMed2004

Diagnosis and treatment of recurrent miscarriage associated with immunologic disorders: Is paternal lymphocyte immunization a relic of the past?

Miscarriage is the most common complication of human pregnancy. Although the causes of recurrent miscarriage (RM) are various, immunologic aberrations between mother and fetus might be one of the causes of miscarriage. Immune responses fall into two categories: autoimmune and alloimmune. Currently, no appropriate diagnostic method has been established to identify alloimmune causes. We observed that NK cell activity in women with RM was higher than that in women without a history of miscarriage. Functional or quantitative analysis of NK cells could be used to identify alloimmune causes. Paternal lymphocyte immunization has been the most widely used treatment for alloimmune-mediated miscarriages. However, the latest Cochrane review by Scott reached the current conclusion that lymphocyte immunization therapy provided no significant beneficial effect over placebo in preventing further miscarriage. Approximately 70% of Japanese university hospitals are still performing paternal lymphocyte immunization. Is paternal lymphocyte immunization a relic of the past? Randomized controlled trials based on adequate patient selection in Japan should provide an answer to this question.

Abortion, Habitual↗
PubMed2006

Paternal, perceived maternal, and youth risk factors as predictors of youth stage of substance use a longitudinal study.

This longitudinal study examined paternal, perceived maternal, and youth risk factors at Time 1 (T1) (e.g., substance use, violent victimization, parental rules) as predictors of the stage of substance use in the adolescent child at Time 2 (T2). Participants (N = 296) consisted of drug-abusing fathers and one of their adolescent children, aged 12 to 20 years. Fathers and youths were each administered structured interviews separately and in private. Adolescents were re-interviewed approximately one year later. Pearson correlation analyses showed that the paternal, perceived maternal, and youth risk factors were significantly related to adolescent stage of substance use at T2. With an increase in risk factors, there was an increase in T2 stage of substance use in the child. Findings imply that father-oriented treatment programs should focus on how paternal behaviors, such as illegal drug use, inadequate parenting skills, and a poor father-child relationship contribute to youth problem behaviors, including alcohol, tobacco, and illicit drug use.

Adaptation, Psychological↗