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PubMed2003

PSR (paternal sex ratio) chromosomes: the ultimate selfish genetic elements.

PSR (paternal sex ratio) chromosomes are a type of supernumerary (or B) chromosomes that occur in haplodiploid arthropods. They are transmitted through sperm but then cause loss of the paternal chromosomes (except themselves) early in development. As a result, PSR chromosomes convert diploid fertilized eggs (which would normally develop into females) into haploid males that carry a PSR chromosome. Because they act by completely eliminating the haploid genome of their 'hosts', PSR chromosomes are the most extreme form of selfish or parasitic DNA known. PSR was originally described in the parasitic wasp Nasonia vitripennis (Pteromalidae). A second PSR chromosome has been found in Trichogrimmna kaykai, an egg parasitoid from a different family of Hymenoptera (Trichogrammatidae). We argue that PSR chromosomes are likely to be widespread in haplodiploid organisms, but have so far gone under reported due to a paucity of population genetic studies in haplodiploids. We describe the two known PSR systems and related phenomena, and models indicating the conditions conducive to increase of PSR like chromosomes in haplodiploids.

Animals↗
PubMed1997

Antipredator behavior in paradise fish (Macropodus opercularis) larvae: the role of genetic factors and paternal influence.

The paradise fish, a small insectivore, coinhabits marshes of Southeast Asia with several predator fish species. Its ability to recognize and avoid harmful fish may depend upon both genetic factors and experience. Here we demonstrate genetic variability between the 20-day-old larvae of two inbred strains of paradise fish (P and S) in predator exploration and avoidance, using predator models. We show that, in comparison to S larvae, P larvae exhibited an elevated frequency of leaping and backing and an increased approach latency when faced with a predator model with eyespots. Analysis of a classical cross system between the two strains revealed significant departure from an additive-dominance genetic model and suggested the involvement of both epistatic effects of several genes and paternal effects. The effect of the paternal influence during the 5-day postspawning period was found to be strain dependent: later predator avoidance behaviors were influenced by the presence of the father in P larvae but not in S larvae. On the basis of these and previous results, we speculate that the 5 postspawning days may represent a developmentally sensitive period during which specific environmental stimulation, e.g., stimuli associated with the father, is critical for later development of appropriate antipredatory responses. We conclude that developmental aspects of antipredatory behavior in paradise fish are influenced by a complex interplay between genetic and environmental factors.

Animals↗
PubMed2003

Molecular cytogenetic detection of paternal chromosome fragments in allogynogenetic gibel carp, Carassius auratus gibelio Bloch.

In gynogenesis, sperm from related species activates egg and embryonic development, but normally does not contribute genetically to the offspring. In gibel carp, Carassius auratus gibelio Bloch, however, gynogenetic offspring often show some phenotypes apparently derived from the heterologous sperm donor. This paternal effect of allogynogenesis is outstanding in an artificial clone F produced by cold treatment of clone E eggs after insemination with blunt-nose black bream (Megaloabrama amblycephala Yin) sperm. Karyotype analysis revealed 5-15 supernumerary microchromosomes in different individuals of clone F in addition to 156 normal chromosomes inherited from the maternal clone E. A painting probe was prepared from the microdissected microchromosomes, and used to investigate the origin of these microchromosomes. Strong positive signals were detected on each microchromosomes of clone F and on 4 pairs of chromosomes in blunt-nose black bream, whereas no signals were detected on the chromosomes of clone E. This result indicates that some paternal chromosome fragments of blunt-nose black bream have been incorporated into the artificial clone F. Therefore, the manipulation of allogynogenesis may provide a unique method to transfer DNA between diverse species for fish breeding.

Animals↗
PubMed2003

Paternal alcohol abuse: relationship between child adjustment, parental characteristics, and family functioning.

This study examines possible risk factors associated with child adjustment in a sample of children with alcohol abusing fathers in Norway (N = 37). Factors included are socio-economic status, severity of the fathers' alcohol abuse, parental psychological problems, and family functioning. Children of alcohol abusing fathers were found to have more adjustment problems assessed by CBCL compared to a general population sample. The findings further suggest that child adjustment in families with paternal alcohol abuse is the result of an accumulation of risk factors rather than the effects of the paternal alcohol abuse alone. Both general environmental risk factors (psychological problems in the fathers, family climate, family health and conflicts) and environmental factors related to the parental alcohol abuse (severity of the alcohol abuse, the child's level of exposure to the alcohol abuse, changes in routines and rituals due to drinking) were related to child adjustment. The results indicate the need to obtain both parents' assessments of child adjustment, as the fathers' assessment was associated with different risk factors compared to the mothers'.

Adjustment Disorders↗
PubMed1999

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

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

Angelman Syndrome↗
PubMed2002

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa.

We studied a single patient with the lethal (Herlitz) type of junctional epidermolysis bullosa (H-JEB). Screening for mutations in the LAMB3 gene in the patient revealed the previously described hotspot mutation R635X and a novel one basepair deletion in exon 10. The single basepair deletion 1094delA could be detected in the clinically unaffected mother, while the nonsense mutation R635X could not be found in the peripheral blood DNA of either parent. After excluding non-paternity by microsatellite analysis using random markers on chromosomes 3, 8 and 18, we determined that the mutation R635X in the proband was most likely the result of a de novo event or alternatively, germline mosaicism. The parents requested prenatal diagnosis for a second pregnancy, and while the maternal mutation 1094delA could not be detected in DNA from the fetus, unexpectedly, the mutation R635X was present in the chorionic villus DNA. These findings were most consistent with paternal germline mosaicism for the recessive mutation R635X. The results have had a significant impact on the genetic counseling in this family. To our knowledge, this study represents the first documented case of germline mosaicism in junctional epidermolysis bullosa, and serves as a reminder that germline mosaicism should be considered in cases in which a 'new' mutation is found in the offspring of a clinically and/or genetically unaffected parent.

Epidermolysis Bullosa, Junctional↗
PubMed2001

Do adolescent symptomatology and family environment vary over time with fluctuations in paternal alcohol impairment?

This study tested whether adolescent internalizing problems, externalizing problems, heavy alcohol use, fathers' parenting, and family conflict varied over time with fluctuations in fathers' alcohol impairment and also whether children of recovered alcoholic fathers differed from children of nonalcoholic fathers. Fathers and adolescent children (N = 267 families) were interviewed in 3 annual assessments. Results showed that adolescent symptomatology and the family environment did not vary over time as a function of different trajectories of paternal alcohol impairment. However, children of recovered alcoholic fathers exhibited more symptomatology than did children of nonalcoholic fathers. Even though paternal alcoholism has remitted in these families, children of recovered alcoholic fathers might remain on a general higher risk trajectory relative to children of nonalcoholic fathers.

Adolescent↗
PubMed2004

Risk for separation anxiety disorder among girls: paternal absence, socioeconomic disadvantage, and genetic vulnerability.

The authors examined genetic and environmental influences, including the contributions of 2 measured aspects of the shared environment of twins (paternal absence, socioeconomic disadvantage) on the development of mother-reported separation anxiety disorder (SAD) history in a sample of 1,887 female twin pairs. Four different symptom categories of SAD were considered. Results revealed that all 4 SAD symptom categories were significantly heritable, whereas the contribution of shared environmental influences to the variation in risk was significant for only 2 of the 4 SAD categories. Paternal absence was found to have an important influence in vulnerability for SAD, whereas the effect of socioeconomic disadvantage was less robust. Evidence for race differences in the etiology of SAD was not found.

Anxiety, Separation↗
PubMed1993

The role of paternal variables in divorced and married families: predictability of adolescent adjustment.

The predictability of adolescent adjustment, based on teacher reports, in divorced and married families was examined in relationship to four variables: paternal mood, spouse-ex-spouse relationship, father-adolescent relationship, and parental visitation. Analyses indicated that the father-adolescent relationship was predictive of adolescent functioning in divorced families, and the spousal relationship and paternal mood were similarly predictive in married families.

Adaptation, Psychological↗
PubMedDate not supplied

Role of paternal and maternal genomes in mouse development.

There has been much speculation on whether mammalian eggs with two male pronuclei can develop normally. Eggs with two female pronuclei can sometimes develop as far as the 25-somite stage but with only very meagre extraembryonic tissues. We suggested that the genome undergoes specific imprinting during gametogenesis and that some paternal genes may be necessary for normal development of the extraembryonic tissues, in which only the maternal X chromosome remains active. However, the need for the maternal genome for development to term is not yet unequivocally established. The detailed study described here demonstrates that while between 40 and 50% of heterozygous reconstituted eggs with a male and a female pronucleus develop to term, none of the eggs with two male pronuclei does so. Furthermore, embryos in the latter case are very retarded, even though the trophoblast develops relatively well compared with embryos having two female pronuclei. Our combined results indicate that while the paternal genome is essential for the normal development of extraembryonic tissues, the maternal genome may be essential for some stages of embryogenesis.

Animals↗
PubMedDate not supplied

Differential activity of maternally and paternally derived chromosome regions in mice.

Although both parental sexes contribute equivalent genetic information to the zygote, in mammals this information is not necessarily functionally equivalent. Diploid parthenotes possessing two maternal genomes are generally inviable, embryos possessing two paternal genomes in man may form hydatidiform moles, and nuclear transplantation experiments in mice have shown that both parental genomes are necessary for complete embryogenesis. Not all of the genome is involved in these parental effects, however, because zygotes with maternal or paternal disomy for chromosomes 1, 4, 5, 9, 13, 14 and 15 of the mouse survive normally. On the other hand, only the maternal X chromosome is active in mouse extraembryonic membranes, maternal disomy 6 is lethal, while non-complementation of maternal duplication/paternal deficiency or its reciprocal for regions of chromosome 2, 8 and 17 has been recognized. We report that animals with maternal duplication/paternal deficiency and its reciprocal for each of two particular chromosome regions show anomalous phenotypes which depart from normal in opposite directions, suggesting a differential functioning of gene loci within these regions. A further example of non-complementation lethality is also reported.

Animals↗
PubMed1989

Mate guarding as paternity insurance in Idaho ground squirrels.

Following a copulation, males in many species of vertebrates (particularly birds) and invertebrates remain near the inseminated female and repel other suitors with displays or force. Guarding males must delay resumption of competitive mate searching, but they may insure their paternity by reducing possibilities for secondary matings and sperm competition. Among mammals, post-copulatory mate guarding has been reported in rodents, mongooses, ungulates and primates, including humans, but the effects of such behaviour on male reproductive success have not been determined genetically. I report here that mate guarding by male Idaho ground squirrels (Spermophilus brunneus) enhances a male's probability of paternity. Furthermore, an analysis based on game theory shows that mate guarding is an evolutionarily stable strategy for male S. brunneus, but not male Belding's ground squirrels (S. beldingi), which resume searching once copulation is completed.

Animals↗
PubMed1991

Uniparental paternal disomy in a genetic cancer-predisposing syndrome.

The 11p15.5 region of human chromosome 11 seems to contain a locus or loci involved in congenital overgrowth anomalies as well as in the genesis of many tumours associated with the Beckwith-Wiedemann syndrome (BWS). Given the unusual differential parental allele involvement in the different aetiological forms of BWS and the loss of maternal alleles in associated tumours, we have now used 11p15.5 markers to determine the parental origin of chromosome 11 in eight sporadic cases of BWS. Probands in three informative families had uniparental paternal disomy for region 11p15.5. Further, an overall greatly increased frequency of homozygosity for several 11p15.5 markers in 21 sporadic BWS patients suggests that isodisomy probably accounts for an even higher proportion of BWS sporadic cases. This demonstrates that uniparental paternal disomy can be associated with a genetic cancer-predisposing syndrome.

Beckwith-Wiedemann Syndrome↗
PubMed1987

Paternal transmission of an extrachromosomal factor in a wasp: evolutionary implications.

Females of the haplodiploid wasp, Nasonia vitripennis, lay both fertilised eggs (= female) and unfertilised eggs (= male) following matings with ordinary males. Matings with males that carry the extrachromosomal paternal-sex-ratio (psr) factor result in the production of all-male broods. These male offspring are haploid and inherit only the maternal genome, yet some also inherit the psr factor. The proportion of males inheriting psr is highly correlated with the proportion of eggs fertilised in non-psr matings, indicating that transmission of psr is effected by egg fertilisation and concomitant destruction of the paternally-derived chromosomes. A simple model suggests that the frequency of the factor ought to decline rapidly in a population producing only 50 per cent fertilised eggs; this was observed.

Animals↗
PubMed2003

Inheritance of a pre-inactivated paternal X chromosome in early mouse embryos.

In mammals, dosage compensation ensures equal X-chromosome expression between males (XY) and females (XX) by transcriptionally silencing one X chromosome in XX embryos. In the prevailing view, the XX zygote inherits two active X chromosomes, one each from the mother and father, and X inactivation does not occur until after implantation. Here, we report evidence to the contrary in mice. We find that one X chromosome is already silent at zygotic gene activation (2-cell stage). This X chromosome is paternal in origin and exhibits a gradient of silencing. Genes close to the X-inactivation centre show the greatest degree of inactivation, whereas more distal genes show variable inactivation and can partially escape silencing. After implantation, imprinted silencing in extraembryonic tissues becomes globalized and more complete on a gene-by-gene basis. These results argue that the XX embryo is in fact dosage compensated at conception along much of the X chromosome. We propose that imprinted X inactivation results from inheritance of a pre-inactivated X chromosome from the paternal germ line.

Animals↗
PubMed2004

Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting.

Imprinted genes are epigenetically marked during gametogenesis so that they are exclusively expressed from either the paternal or the maternal allele in offspring. Imprinting prevents parthenogenesis in mammals and is often disrupted in congenital malformation syndromes, tumours and cloned animals. Although de novo DNA methyltransferases of the Dnmt3 family are implicated in maternal imprinting, the lethality of Dnmt3a and Dnmt3b knockout mice has precluded further studies. We here report the disruption of Dnmt3a and Dnmt3b in germ cells, with their preservation in somatic cells, by conditional knockout technology. Offspring from Dnmt3a conditional mutant females die in utero and lack methylation and allele-specific expression at all maternally imprinted loci examined. Dnmt3a conditional mutant males show impaired spermatogenesis and lack methylation at two of three paternally imprinted loci examined in spermatogonia. By contrast, Dnmt3b conditional mutants and their offspring show no apparent phenotype. The phenotype of Dnmt3a conditional mutants is indistinguishable from that of Dnmt3L knockout mice, except for the discrepancy in methylation at one locus. These results indicate that both Dnmt3a and Dnmt3L are required for methylation of most imprinted loci in germ cells, but also suggest the involvement of other factors.

Alleles↗
PubMed2006

Outbred embryos rescue inbred half-siblings in mixed-paternity broods of live-bearing females.

Females commonly mate with more than one male, and polyandry has been shown to increase reproductive success in many species. Insemination by multiple males shifts the arena for sexual selection from the external environment to the female reproductive tract, where sperm competition or female choice of sperm could bias fertilization against sperm from genetically inferior or genetically incompatible males. Evidence that polyandry can be a strategy for avoiding incompatibility comes from studies showing that inbreeding cost is reduced in some egg-laying species by postcopulatory mechanisms that favour fertilization by sperm from unrelated males. In viviparous (live-bearing) species, inbreeding not only reduces offspring genetic quality but might also disrupt feto-maternal interactions that are crucial for normal embryonic development. Here we show that polyandry in viviparous pseudoscorpions reduces inbreeding cost not through paternity-biasing mechanisms favouring outbred offspring, but rather because outbred embryos exert a rescuing effect on inbred half-siblings in mixed-paternity broods. The benefits of polyandry may thus be more complex for live-bearing females than for females that lay eggs.

Animals↗
PubMed1993

Preferential amplification of the paternal allele of the N-myc gene in human neuroblastomas.

Genomic imprinting plays a role in influencing the parental origin of genes involved in cancer-specific rearrangements. We have analysed 22 neuroblastomas with N-myc amplification to determine the parental origin of the amplified N-myc allele and the allele that is deleted from chromosome 1p. We analysed DNA from neuroblastoma patients and their parents, using four polymorphisms for 1p and three for the N-myc amplicon. We determined that the paternal allele of N-myc was preferentially amplified (12 out of 13 cases; P = 0.002). However, the paternal allele was lost from 1p in six out of ten cases, consistent with a random distribution (P > 0.2). These results suggest that parental imprinting influences which N-myc allele is amplified in neuroblastomas, but it does not appear to affect the 1p allele that is deleted in the cases that we have examined.

Adrenal Gland Neoplasms↗