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PubMed2001

Maternal and paternal recreational drug use and sudden infant death syndrome.

OBJECTIVE: To determine whether maternal or paternal use of cocaine, opiates, or marijuana during conception and pregnancy and postnatally increases the risk of sudden infant death syndrome (SIDS) during the first year of the infant's life. This is an important issue and may prove useful in further decreasing the rate of SIDS. METHODS: A case-control study was conducted consisting of 239 infants who died of SIDS in southern California between 1989 and 1992, and 239 healthy infants who were matched on the basis of birth hospital, date of birth, age, and sex. Specific drug use at the period of conception, during pregnancy and breastfeeding, and in the presence or vicinity of the infant was ascertained by telephone for the white, African American, Hispanic, Asian American, and Pacific Islander case and control fathers and mothers. RESULTS: Maternal recreational drug use during pregnancy was not associated with the risk of SIDS after adjusting for maternal smoking during pregnancy (adjusted odds ratio [OR] = 2.0; 95% confidence interval [CI], 0.6-6.5). There were statistically significant differences between case and control fathers' use of marijuana during conception (OR = 2.2; 95% CI, 1.2-4.2; P =.01), during pregnancy (OR = 2.0; 95% CI, 1.0-4.1; P =.05), and postnatally (OR = 2.8; 95% CI, 1.1-7.3; P =.04) and the risk of SIDS, while adjusting for paternal smoking and alcohol use. CONCLUSIONS: There was no association between maternal recreational drug use and SIDS. Paternal marijuana use during the periods of conception and pregnancy and postnatally were significantly associated with SIDS. The role of paternal psychoactive drug use, especially the relationship between marijuana and SIDS, is an understudied area; however, before any definitive role for the father can be confirmed, these findings should be investigated and replicated in future studies.

Adult↗
PubMed2005

Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14).

A 14-year-old boy was referred for a genetics evaluation after high-resolution chromosome analysis showed a small amount of extra material in the proximal long arm of chromosome 21. Five years prior, his karyotype analysis was interpreted as normal with a variant chromosome 21. The patient has short palpebral fissures, strabismus, flat antihelices of the ears, long thumbs with bilaterally absent interphalangeal creases, proximal bilateral 3/4 syndactyly, small testes, hypotonia, mental retardation, and speech problems. He has significant depression and behavioral problems including hyperactivity, aggression, and impulsivity. His 8-year-old brother has more severe behavioral disturbances and depression, but less significant mental retardation. A paternal aunt has mental retardation, is unusually docile, and appears similar to our patient. Chromosome analysis and fluorescence in situ hybridization (FISH) whole chromosome paint of chromosome 21 showed that the patient's father carries a "cryptic" balanced translocation, 46,XY, t(14;21)(q11.2;q11.2), as does the patient's paternal grandmother. Uniparental disomy studies using seven informative polymorphic nucleotide repeat markers from 14q and 21q confirmed biparental inheritance of the number 14 and 21 chromosomes for each brother, and indicate that they and the paternal aunt, all of whom inherited the der(14), are monosomic for proximal 21q and trisomic for proximal 14q. These karyotypes arose through an adjacent-2 segregation in the father on two occasions, and from the paternal grandmother on one occasion. This family is an example of recurrent malsegregation with translocations involving the acrocentrics.

Adult↗
PubMed2005

Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features.

We report on segmental and full paternal isodisomy for chromosome 14 in three previously unreported Japanese patients. Patient 1 was a 5(6/12)-year-old girl, Patient 2 was a male neonate, and Patient 3 was a -year-old girl. Physical examination at birth showed various somatic features characteristic of paternal uniparental disomy for chromosome 14 (upd(14)pat) such as hairy forehead, protruding philtrum, micrognathia, small thorax, and abdominal wall defects in Patients 1-3, and the constellation of somatic features was persistently observed in Patients 1 and 3. Radiological studies at birth delineated unique bell-shaped thorax with coat-hanger appearance of the ribs in Patients 1-3, but the thoracic deformity ameliorated in Patients 1 and 3 by mid childhood. Chromosome analysis showed a 46,XX karyotype in Patients 1 and 3 and was not performed in Patient 2. Microsatellite analysis indicated full paternal isodisomy for chromosome 14 in Patients 1 and 2 and segmental paternal isodisomy for chromosome 14 distal to D14S981 at 14q23.3 in Patient 3. Methylation specific PCR assay for the differentially methylated region (DMR) of GTL2 at 14q32 yielded positive products with methylated allele specific primers and no products with unmethylated allele specific primers in Patients 1-3. Since clinical phenotype was similar between Patient 3 with segmental upd(14)pat and Patients 1 and 2 with full upd(14)pat, the results are keeping with the 14q32 localized imprinted genes as the critical components of the phenotype observed in upd(14)pat and help narrow the search for additional genes to the approximately 40 Mb region distal to D14S981. Furthermore, it is likely that the characteristic thoracic deformity ameliorates with age.

Child↗
PubMed2005

Mechanisms and consequences of paternally-transmitted chromosomal abnormalities.

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 maternal susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and that directly affect the risk for abnormal reproductive outcomes.

Aneuploidy↗
PubMed2006

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.

Uniparental disomy (UPD) is a rare genetic abnormality. During a whole genome linkage study we identified a case of paternal uniparental isodisomy 3 serendipitously. This is the first ascertained human paternal UPD for chromosome 3 (UPD3pat). The finding of this paternal UPD case of the entire chromosome 3 with no apparent phenotypic disorders suggests that there are no paternal imprinted genes causing rare genetic disorders on chromosome 3.

Alleles↗
PubMed1997

Social mating system affects the frequency of extra-pair paternity in house wrens

We tested two hypotheses regarding the effect of the social mating system on extra-pair paternity in an Illinois population of house wrens, Troglodytes aedonAccording to the genetic-quality hypothesis, polygynous males are of higher quality than monogamists, and monogamously paired females, in an attempt to obtain high-quality genes, should have a greater proportion of extra-pair nestlings in their nests than polygynously paired females. According to the trade-off hypothesis, polygynists, with temporally overlapping nests, will have a greater proportion of extra-pair nestlings in their nests than monogamists, because polygynists have difficulty guarding one or both of their social mates. DNA fingerprinting revealed that extra-pair paternity was most frequent in secondary nests of polygynists. The proportion of secondary broods with extra-pair nestlings increased with the temporal overlap of polygynists' nests, although this trend was not significant. Both results are consistent with the trade-off hypothesis but not with the genetic-quality hypothesis. We did not address the effects of genetic quality on male success at siring nestlings in the nests of other males. Although the trade-off hypothesis focuses on male mate guarding, female behaviours may also affect frequencies of extra-pair paternity. Secondary females may compensate for reduced male defence by engaging in extra-pair copulations with neighbours to reduce the likelihood that neighbours destroy their nests. Thus, in house wrens, female participation in extra-pair copulations in combination with male mate-guarding constraints may generate higher levels of extra-pair paternity in secondary broods than in primary polygynous or monogamous broods.Copyright 1997 The Association for the Study of Animal Behaviour1997The Association for the Study of Animal Behaviour

Journal Article↗
PubMed1999

The effect of experimental male removals on extrapair paternity in the wheatear, Oenanthe oenanthe.

To examine the role of the pair male in ensuring paternity in the wheatear, we removed pair males for 24 h during the fertile period (days 0 to +1 in 1992 and days -5 to -1 in 1993, where day 0=first egg date). Control males were removed during incubation. The frequency and duration of intrusions, and the frequency of extrapair copulations (EPCs), increased during removals in the fertile period, but not during incubation. The frequency of extrapair paternity (EPP) was marginally higher (25%) in experimental than control broods and the presence of the pair male seemed particularly important in ensuring paternity in those days immediately preceding laying. Females were selective over which males they copulated with in the absence of their mate and rejected the majority of attempted EPCs. Only extrapair males in better body condition than the removed pair male eventually gained successful matings. Experimental males in poorer body condition were also more likely to have EPP in their brood than experimental males in better body condition. Female copulatory behaviour was the most important factor in determining patterns of paternity, and mate-guarding behaviours by the pair male appeared to limit the females' opportunities to engage in EPCs by reducing the frequency and duration of intrusions, rather than to control female behaviour directly. Copyright 1999 The Association for the Study of Animal Behaviour.

Journal Article↗
PubMed1997

Genetic and functional analysis of neuronatin in mice with maternal or paternal duplication of distal Chr 2.

Functional differences between parental genomes are due to differential expression of parental alleles of imprinted genes. Neuronatin (Nnat) is a recently identified paternally expressed imprinted gene that is initially expressed in the rhombomeres and pituitary gland and later more widely in the central and peripheral nervous system mainly in postmitotic and differentiating neuroepithelial cells. Nnat maps to distal chromosome (Chr) 2, which contains an imprinting region that causes morphological abnormalities and early neonatal lethality. More detailed mapping analysis of Nnat showed that it is located between the T26H and T2Wa translocation breakpoints which is, surprisingly, proximal to the reported imprinting region between the T2Wa and T28H translocation breakpoints, suggesting that there may be two distinct imprinting regions on distal chromosome 2. To investigate the potential role of Nnat, we compared normal embryos with those which were PatDp.dist2.T26H (paternal duplication/maternal deficiency of chromosome 2 distal to the translocation breakpoint T26H) and MatDp.dist2.T26H. Expression of Nnat was detected in the PatDp.dist2.T26H embryos, where both copies of Nnat are paternally inherited, and normal embryos but no expression was detected in the MatDp.dist2.T26H embryos with the two maternally inherited copies. The differential expression of Nnat was supported by DNA methylation analysis with the paternally inherited alleles being unmethylated and the maternal alleles fully methylated. Although experimental embryos appeared grossly similar phenotypically in the structures where expression of Nnat was detected, differences in folding of the cerebellum were observed in neonates, and other more subtle developmental or behavioral effects due to gain or loss of Nnat cannot be ruled out.

Animals↗
PubMed2001

Paternal chromosome incorporation into the zygote nucleus is controlled by maternal haploid in Drosophila.

maternal haploid (mh) is a strict maternal effect mutation that causes the production of haploid gynogenetic embryos (eggs are fertilized but only maternal chromosomes participate in development). We conducted a cytological analysis of fertilization and early development in mh eggs to elucidate the mechanism of paternal chromosome elimination. In mh eggs, as in wild-type eggs, male and female pronuclei migrate and appose, the first mitotic spindle forms, and both parental sets of chromosomes congress on the metaphase plate. In contrast to control eggs, mh paternal sister chromatids fail to separate in anaphase of the first division. As a consequence the paternal chromatin stretches and forms a bridge in telophase. During the first three embryonic divisions, damaged paternal chromosomes are progressively eliminated from the spindles that organize around maternal chromosomes. A majority of mh embryos do not survive the deleterious presence of aneuploid nuclei and rapidly arrest their development. The rest of mh embryos develop as haploid gynogenetic embryos and die before hatching. The mh phenotype is highly reminiscent of the early developmental defects observed in eggs fertilized by ms(3)K81 mutant males and in eggs produced in incompatible crosses of Drosophila harboring the endosymbiont bacteria Wolbachia.

Aneuploidy↗
PubMed2000

Paternal effects from methamidophos administration in mice.

In this study, the mouse was used to evaluate paternal germline exposure to the organophosphate methamidophos for its potential to produce adverse effects on spermatozoa and in the offspring. There have been reports that organophosphate exposure can increase abnormal sperm morphology in mice. However, effects transmitted to the offspring following paternal exposure have not been reported previously. The maximum tolerated dose (MTD) was 7.5 mg kg(-1) body weight and this dose resulted in no deaths, although blood plasma cholinesterase activity was still decreased. Males were euthanized 4 weeks after an acute intraperitoneal injection of methamidophos (0.5, 3.75, 5.0, and 7.5 mg kg(-1) body wt) and the number of spermatids per gram testes and sperm morphology were analyzed. In this study, abnormal sperm morphology on a per group basis exhibited a dose-response significantly related to increased methamidophos exposure as indicated by regression analysis and a nested ANOVA (p < 0.0001). Preimplantation embryos that were conceived 6 weeks after paternal methamidophos exposure (5 mg kg(-1) body wt) exhibited a significant increase in cleavage arrest. Fertility of males was also affected as shown by a decrease in the number of two- to four-cell embryos per male (postexposure week 6) and an increase in the number of degenerated embryos (postexposure weeks 4-6). We conclude that methamidophos may have the potential to produce transmissible adverse embryonic effects following an acute paternal germline exposure.

Acetylcholinesterase↗
PubMed2006

Paternal dual barrier by Ifg2-H19 and Dlk1-Gtl2 to parthenogenesis in mice.

The functional difference between the maternal and paternal genome, which is characterized by epigenetic modifications during gametogenesis, that is genomic imprinting, prevents mammalian embryos from parthenogenesis. Genomic imprinting leads to nonequivalent expression of imprinted genes from the maternal and paternal alleles. However, our research showed that alteration of maternal imprinting by oocyte reconstruction using nongrowing oocytes together with deletion of the H19 gene, provides appropriate expression of maternally imprinted genes. Here we discuss that further alteration of paternally imprinted gene expressions at chromosomes 7 and 12 allows the ng/fg parthenogenetic embryos to develop to term, suggesting that the paternal contribution is obligatory for the descendant.

Animals↗
PubMed1989

Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction.

Two cases of 47,XXX males were studied, one of which has been published previously (Bigozzi et al. 1980). Analysis of X-linked restriction fragment length polymorphisms revealed that in this case, one X chromosome was of paternal and two were of maternal origin, whereas in the other case, two X chromosomes were of paternal and one of maternal origin. Southern blot analysis with Y-specific DNA probes demonstrated the presence of Y short arm sequences in both XXX males. In one case, the results obtained pointed to a paracentric inversion on Yp of the patient's father. In situ hybridization indicated that the Y-specific DNA sequences were localized on Xp22.3 in one of the three X chromosomes in both cases. The presence of Y DNA had no effect on random X inactivation. It is concluded that both XXX males originate from aberrant X-Y interchange during paternal meiosis, with coincident nondisjunction of the X chromosome during maternal meiosis in case 1, and during paternal meiosis II in case 2.

Adolescent↗
PubMed1994

Paternity determination in the adder (Vipera berus)--DNA fingerprinting or random amplified polymorphic DNA?

We performed breeding experiments with adders (Vipera berus) to determine whether multiple matings may result in multiple paternity. DNA fingerprinting of mothers, their offspring, and possible fathers using a polydinucleotide probe [(TG)n] gave a low overall similarity between unrelated individuals (0.18 +/- 0.07; SD) and an average of 17 bands that were male-specific. In no cases were there fewer than seven paternal-specific bands present in the fingerprint of an offspring, enabling us unambiguously to identify the biological father among five males. Multiple paternity was detected in the investigated broods with offspring sired exclusively by the captive males. PCR amplification of random amplified polymorphic DNA (RAPD) using 16 decamer primers gave 76 bands and an average similarity of 0.95 (+/- 0.01) between the males, which were collected at different, geographically well-separated localities. Although there were on average 8.3 (+/- 1.9) bands that differ between males in pairwise comparisons, there were only 1.9 (+/- 1.1) bands per male that are specific for a particular individual. Thus, RAPDs are adequate for paternity determination only in experiments with a low number of males, whereas DNA fingerprinting offers sufficient information to discriminate between large numbers of putative fathers.

Animals↗
PubMed1993

An epidemiologic study of paternity after cryptorchidism: initial results.

Paternity has been studied among married men who were formerly cryptorchid. Forty-one of 52 formerly unilateral cryptorchid men were married, 10 of 11 bilaterally cryptorchid and 36 of 42 control men. Thirty-two of the 41 of the unilateral group (78%) had fathered children, 6 of 10 in the bilateral group (60%) and 24 of 36 controls (67%). These limited data from the initial phase of this study of paternity after cryptorchidism do not show any correlation between paternity or time of unprotected intercourse to conception and age of surgery or pretreatment testicular size or location. However, these data suggest that paternity is not decreased after unilateral cryptorchidism.

Adult↗
PubMed1990

Paternal alcohol exposure: paradoxical effect in mice and rats.

Male mice consumed liquid alcohol diets containing 25%, 10% or 0% ethanol-derived calories (EDC). Animals receiving the 10 and 0% EDC diets were pair fed to those consuming the 25% EDC diet. After 7 or 14 weeks of consumption, males were bred to non-treated females. Offspring were tested for swimming behavior at 75 days of age. Offspring sired by alcohol-consuming males were more immobile regardless of duration of paternal alcohol consumption or housing conditions (group or isolated). Imipramine (5, 15 mg/kg) reversed this effect such that after drug treatment, alcohol-sired offspring were less immobile than controls. Propranolol (1, 3 mg/kg) eliminated the group differences. Yohimbine (1, 10 mg/kg) significantly increased immobility in all groups but did not reverse the effects of paternal alcohol consumption. Metergoline (1 mg/kg) increased immobility in all groups but did not reverse the effects of paternal alcohol exposure. When rat offspring of alcohol-consuming fathers were tested, their swimming behavior was opposite to that of mice (i.e., rats were less immobile). However, as observed in mice, the effect was reversed by imipramine. These results extend the evidence for paternally mediated behavioral mutagenesis. They also indicate that the direction of induced changes are species dependent and that some of these effects, regardless of direction of change, are mediated by neurochemical changes sensitive to imipramine.

Animals↗
PubMed1997

Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection?

During intracytoplasmic sperm injection (ICSI) the whole sperm, including head, midpiece and tail, is injected into the middle area of the oocyte. To find out what happens to the sperm mitochondria after ICSI, we checked the first six children born after ICSI treatment for occurrence of paternal mitochondrial DNA (mtDNA). The difference between maternal and paternal mtDNA in the investigated couples in our study was confined to single-base pair substitutions and we had to rely on restriction enzyme cleavage to differentiate between the mitochondrial genomes of the parents. With this kind of assay we were able to reach a sensitivity of about 0.2% for the paternal mtDNA. However, as uneven partition between tissues of heteroplasmic mtDNA is expected to occur, it would not be unlikely that an enrichment to 0.2% would occur in a given tissue if paternal mtDNA was transmitted by the ICSI procedure. We did not detect this level in the blood in any of the six children.

Adult↗
PubMed2006

Paternal insulin resistance and its association with umbilical cord insulin concentrations.

AIMS/HYPOTHESIS: Fetal growth is influenced by genetic factors as well as the intra-uterine environment. We hypothesised that some genetic factors may alter fetal insulin secretion and insulin action. SUBJECTS, MATERIALS AND METHODS: To assess this, we analysed plasma insulin concentration in umbilical cord blood from 644 normal, term, UK Caucasian deliveries from the Exeter Family Study of Childhood Health. We tested for associations between cord insulin and each of parental anthropometry, fasting glucose, insulin and lipids. RESULTS: As expected, cord insulin concentrations correlated with all measures of birth size (weight, length, head and arm circumferences, sum of skinfold thicknesses, ponderal index: r=0.16-0.4, p<0.01 for all) and maternal BMI (r=0.11, p=0.005), maternal glucose (r=0.25, p<0.001) and maternal insulin resistance (r=0.23, p<0.001). Paternal fasting insulin and insulin resistance were correlated with cord insulin (r=0.15, p=0.006; r=0.13, p=0.001, respectively), and this was independent of paternal BMI. Multiple linear regression analysis revealed paternal insulin resistance to be a predictor of cord insulin concentrations, independently of maternal factors. CONCLUSION: Our results show an independent relationship between paternal insulin resistance and cord insulin concentrations. This is consistent with heritability of insulin resistance from father to offspring and a compensatory increase in fetal insulin secretion, the latter occurring pre-natally before the homeostatic feedback loop between glucose and insulin is established.

Adult↗
PubMed2005

Novel paternally expressed intergenic transcripts at the mouse Prader-Willi/Angelman Syndrome locus.

Gene expression profiling was performed on central nervous system (CNS) tissue from neonatal mice carrying the T9H translocation and maternal or paternal duplication of proximal Chromosomes 7 and 15. Our analysis revealed the presence of two novel paternally expressed intergenic transcripts at the Prader-Willi/Angelman Syndrome (PW/AS) locus. The transcripts were termed Pec2 and Pec3, for paternally expressed in the CNS. Imprinting of these transcripts was confirmed by sequencing of RT-PCR products in F(1) hybrids between Mus musculus musculus C57BL/6 and Mus musculus castaneus, following identification of single nucleotide polymorphisms between the two strains. Imprinting of Pec2 was also confirmed by Northern blot analysis. The two transcripts are separated by 0.5 Mb and are transcribed in the same orientation. They are located in a long interspersed transposable element (LINE)-rich region midway between the PW/AS imprinting center and the paternally expressed genes Ndn, Magel2, and Mkrn3, which are under imprinting center control. Our analysis also revealed imprinting of Magel2, Mkrn3, Ndn, Ube3a, and Usp29, as well as Pec2 and Pec3, in embryonic brain 15.5 dpc, and provided a survey of biallelically expressed genes on proximal Chrs 7 and 15 in embryonic and neonatal CNS.

Animals↗