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At least 1,153 records · Page 64Linked to original sources
PubMed1997

Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal.

OBJECTIVE: To determine the etiology for recurrent 46,XY sex reversal in a family with two Swyer siblings. DESIGN: Deoxyribonucleic acid (DNA) from peripheral lymphocytes and sperm were analyzed for duplication of the dosage sensitive sex locus (DSS) and for mutations in sex-determining region on Y (SRY). SETTING: An academic teaching hospital. PATIENTS: A family consisting of mother, father, and five phenotypic daughters, of which two were 46,XY sex-reversed females. INTERVENTION: Deoxyribonucleic acid (DNA) extraction, polymerase chain reaction (PCR), Southern blotting, dosage densitometry, single-strand conformation polymorphism (SSCP), and sequencing. MAIN OUTCOME MEASURE: Comparison of control and subject DNA. RESULTS: Deoxyribonucleic acid (DNA) analysis of SRY in genomic DNA from the 46,XY sex-reversed siblings revealed identical missense mutations (T-->G) in both sisters. Analysis of the SRY gene in paternal lymphocyte and sperm DNA revealed mosaicism for wild and mutant (T-->G) SRY sequences. SRY analysis of sperm DNA also demonstrated the same mosaicism for the T-->G missense mutation. CONCLUSION: A postembryonic SRY mutation gave rise to paternal mosaicism for two distinct cell populations (SRY+/SRY-). The presence of a wild type SRY in the somatic cell line may account for a normal pattern of male sexual differentiation, whereas the presence of a mutated SRY in the germ line resulted in two 46,XY sex-reversed offspring. These results confirm a proposed mechanism for the condition of recurrent 46,XY sex-reversed females.

Adolescent↗
PubMed1975

Older paternal age and fresh gene mutation: data on additional disorders.

Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown.

Age Factors↗
PubMed2000

Paternal contributions to the mammalian zygote: fertilization after sperm-egg fusion.

Mammalian fertilization has traditionally been regarded as a simple blending of two gametes, during which the haploid genome of the fertilizing spermatozoon constitutes the primary paternal contribution to the resulting embryo. In contrast to this view, new research provides evidence of important cytoplasmic contributions made by the fertilizing spermatozoon to the zygotic makeup, to the organization of preimplantation development, and even reproductive success of new forms of assisted fertilization. The central role of the sperm-contributed centriole in the reconstitution of zygotic centrosome has been established in most mammalian species and is put in contrast with strictly maternal centrosomal inheritance in rodents. The complementary reduction or multiplication of sperm and oocyte organelles during gametogenesis, exemplified by the differences in the biogenesis of centrosome in sperm and oocytes, represents an intriguing mechanism for avoiding their redundancy during early embryogenesis. New studies on perinuclear theca of sperm revealed its importance for both spermatogenesis and fertilization. Remodeling of the sperm chromatin into a male pronucleus is guided by oocyte-produced, reducing peptide glutathione and a number of molecules required for the reconstitution of the functional nuclear envelope and nuclear skeleton. Although some of the sperm structures are transformed into zygotic components, the elimination of others is vital to early stages of embryonic development. Sperm mitochondria, carrying potentially harmful paternal mtDNA, appear to be eliminated by a ubiquitin-dependent mechanism. Other accessory structures of the sperm axoneme, including fibrous sheath, microtubule doublets, outer dense fibers, and the striated columns of connecting piece, are discarded in an orderly fashion. The new methods of assisted fertilization, represented by intracytoplasmic sperm injection and round spermatid injection, bypass multiple steps of natural fertilization by introducing an intact spermatozoon or spermatogenic cell into oocyte cytoplasm. Consequently, the carryover of sperm accessory structures that would normally be eliminated before or during the entry of sperm into oocyte cytoplasm persist therein and may interfere with early embryonic development, thus decreasing the success rate of assisted fertilization and possibly causing severe embryonic anomalies. Similarly, foreign organelles, proteins, messenger RNAs, and mitochondrial DNAs, which may have a profound impact on the embryonic development, are propagated by the nuclear transfer of embryonic blastomeres and somatic cell nuclei. This aspect of assisted fertilization is yet to be explored by a focused effort.

Cell Membrane↗
PubMed1996

Paternal exposures: impact on reproductive and developmental outcome. An overview.

Experimental and epidemiologic investigations document the adverse consequences of an array of paternal exposures on the development of subsequent offspring. Male-mediated abnormalities have been reported after exposure to therapeutic and recreational drugs, to chemicals in the workplace and environment and to ionizing radiation. The impact on progeny outcome includes: an increase in congenital malformations, spontaneous abortions, fetal resorptions; low birth weight; increase in childhood cancers; developmental, neurobehavioral, neuroendocrine, neurochemical abnormalities; effects in F2 generation progeny. Fertility is often unaffected. The comparative influence of genetic, epigenetic and nongenetic mechanisms in the etiology of paternally-mediated adverse outcomes is unknown. There is no a priori reason to assume that male-mediated effects are limited to the agents studied to date. The broad spectrum of alterations recorded after exposure to a variety of unrelated agents suggests the need for a more focused effort and multidisciplinary exploration of the potential impact of the male parent on reproductive outcome.

Animals↗
PubMedDate not supplied

Paternal depression in the postnatal period and child development: a prospective population study.

BACKGROUND: Depression is common and frequently affects mothers and fathers of young children. Postnatal depression in mothers affects the quality of maternal care, and can lead to disturbances in their children's social, behavioural, cognitive, and physical development. However, the effect of depression in fathers during the early years of a child's life has received little attention. METHODS: As part of a large, population-based study of childhood, we assessed the presence of depressive symptoms in mothers (n=13,351) and fathers (n=12,884) 8 weeks after the birth of their child with the Edinburgh postnatal depression scale (EPDS). Fathers were reassessed at 21 months. We identified any subsequent development of behavioural and emotional problems in their children (n=10,024) at age 3.5 years with maternal reports on the Rutter revised preschool scales. FINDINGS: Information was available for 8431 fathers, 11,833 mothers, and 10,024 children. Depression in fathers during the postnatal period was associated with adverse emotional and behavioural outcomes in children aged 3.5 years (adjusted odds ratio 2.09, 95% CI 1.42-3.08), and an increased risk of conduct problems in boys (2.66, 1.67-4.25). These effects remained even after controlling for maternal postnatal depression and later paternal depression. INTERPRETATION: Our findings indicate that paternal depression has a specific and persisting detrimental effect on their children's early behavioural and emotional development.

Child Behavior Disorders↗
PubMed1998

Expanded cohorts of maternal CD8+ T-cells specific for paternal MHC class I accumulate during pregnancy.

A recombinant H-2Kb transgene, GK, containing the human HLA-G gene promoter is expressed throughout the trophoblast when inherited paternally. Male GK transgenic mice were mated with female T-cell receptor (TCR) transgenic mice to assess the effect of fetal H-2Kb expression on maternal H-2Kb-specific CD8+ T-cells during pregnancy. The number of maternal H-2Kb-specific CD8+ T-cells in spleen increased significantly (approximately 3-fold) 10 days post coitus when the GK transgene was inherited from the father. A smaller (approximately 2-fold) increase was observed in the spleen of pregnant females mated with C57BL/10 (H-2b) males. No increase was observed in mothers mated to syngeneic male mice. In both cases where expanded cohorts of maternal CD8+ T-cells were observed the amount of surface CD8 and to a lesser extent, TCR molecules was reduced. No change in the amount of surface CD44 or CD45RB was detected when levels were compared with naive T-cells from control virgin female mice. Expanded cohorts of CD8+ T-cells were also detected in para-aortic and inguinal lymph nodes draining the uterus but no changes were observed in mesenteric lymph nodes. This study concludes that maternal CD8+ T-cells are exposed to paternally inherited fetal MHC class I antigens during pregnancy. Moreover, the phenotype of the CD8+ T-cells in maternal spleen and lymph nodes that drain the uterus is not typical of activated, antigen-experienced T-cells suggesting that contact with fetal H-2Kb molecules induces a state of functional unresponsiveness.

Animals↗
PubMed2002

Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia.

We report a boy with Down syndrome and leukemia who acquired uniparental isodisomy of chromosome 7q as a secondary chromosomal change during recurrence of the disease. His karyotype before therapy was 46,XY,der(1)t(1;1)(p36;q32),-7,+21c/46,idem,del(9)(p22), whereas at recurrence it was 46,XY,der(1)t(1;1)(p36;q32,-7,der(7)(qter-->p22 through pter::q10-->qter),del(9)(p22),+21c/47,XY,+21c. By using polymerase chain reaction amplification of D7S493 and D7S527 markers, we identified the loss of the maternal chromosome 7 with a consequent paternal isodisomy in the clone with dup7q. This rearrangement could be implicated in the progression of the disease by causing (1) nullisomy for a gene or genes located on 7p22-->pter, (2) functional double doses of exclusively paternal expressed genes, and (3) restoration of the effects produced by haploinsufficiency of biparental expressed genes.

Child, Preschool↗
PubMed1999

Central deafness in a young child with Moyamoya disease: paternal linkage in a Caucasian family: two case reports and a review of the literature.

A case of 'central deafness' is presented in a 3-year-old male Caucasian child with Moyamoya disease (MMD); a rare, progressive and occlusive cerebrovascular disorder predominantly affecting the carotid artery system. Documentation of normal peripheral auditory function and brainstem pathway integrity is provided by acoustic admittance, otoacoustic emission and brainstem auditory evoked potential measurements. The lack of behavioral response to sound, and absent middle and long latency auditory evoked potentials suggest thalamo-cortical dysfunction. Magnetic resonance imaging showed diffuse ischemic damage in subcortical white matter including areas of the temporal lobes. In addition, there were multiple and focal cortical infarctions in both cerebral hemispheres, focused primarily in the frontal, parietal and temporal areas. Taken together, these structural and functional abnormalities in addition to severely delayed speech and language development are consistent with the diagnosis of central deafness and suggest a disconnection between higher brainstem and cortical auditory areas. The child's father also has MMD, but was diagnosed only recently. The presence of paternal linkage is informative since it rules out x-linked recessive and maternal inheritance. To our knowledge, this represents the first documented case of paternal linkage in MMD with central deafness in a Caucasian child with no apparent Japanese ancestry. Herein, we focus on central auditory dysfunction and consider how lesion-induced changes have contributed to a deficit in basic auditory responsiveness, including a severe disturbance in receptive and expressive auditory-based speech and language skills.

Adult↗
PubMed1997

Clinical and immunological condition of newborns of mothers treated for recurrent spontaneous abortions with paternal lymphocytes immunization.

OBJECTIVE: The aim of this study was to evaluate the clinical condition at birth and some laboratory parameters in newborns of mothers treated for recurrent spontaneous abortion (RSA) of unknown etiology with paternal lymphocytes immunization. STUDY DESIGN: The study comprised 104 newborns delivered by 102 women with RSA, who underwent alloimmunization and 90 randomly chosen control newborns. The following parameters were analysed in two groups of newborns: general condition at birth, physical development, course of adaptation period, values of hematological and immunological (percentage of CD3, CD4, CD8, CD19 and CD3/CD25 lymphocytes, chemiluminescence of neutrophils at rest and stimulated with opsonized zymosane) parameters in umbilical arterial blood. RESULTS: No statistically significant differences were noted between the two groups of newborns as to the duration of pregnancy, birth weight, general condition at birth, occurrence of complications in the adaptation period and values of studied hematological and immunological parameters. CONCLUSION: These results suggest that immunization with paternal lymphocytes in women with RSA of unknown etiology not only creates better prognosis for the outcome of the pregnancy, but is also safe for the fetus and the newborn.

Abortion, Habitual↗
PubMed2000

Paternal alcoholism, parental psychopathology, and aggravation with infants.

The purpose of this study was to examine the role of paternal alcohol problems, antisocial behavior, and depression in predicting parental attitudes toward their 12-month-old infants. Families were recruited from birth records and the final sample consisted of 216 families, 101 in the control group and 115 families with alcoholic fathers (92 with light drinking partners and 23 with heavy drinking partners). Results indicated that fathers' alcoholism was associated with higher paternal aggravation with the infant. Further, fathers' depression mediated the relationship between fathers' current alcohol problems and aggravation. Fathers' alcoholism was indirectly associated with maternal aggravation and warmth through the relationship with maternal antisocial behavior and depression. Results suggest that at least during early infancy, parental psychopathology associated with fathers' alcohol problems may play a more important role in predicting parental attitudes toward their infants than alcoholism per se. Results are further discussed in terms of their implications for parenting and later development among infants of alcoholics.

Adult↗
PubMed1997

The role of the paternal genome in the development of the mouse germ line.

The mouse germ line originates at 6.5 days post coitum (dpc) in the proximal epiblast, apparently in response to signals from the primitive endoderm or the extraembryonic mesoderm [1,2]. Some studies have implied a significant role for imprinted genes in germ-line development [3,4]. These genes, whose expression is determined by their parental origin [5], serve complementary functions during mammalian development [6-9] and exert striking reciprocal phenotypic effects on androgenetic (AG: two paternal genomes) and parthenogenetic (GG/PG: two maternal genomes) cells [3,4,10]. This may include a fundamental effect on germ-cell development because PG but not AG cells can differentiate into viable gametes [3,4,11], suggesting that the maternal genome is obligatory for development of the mammalian germ line. Here we show unequivocally that AG cells can differentiate into germ cells, and that in chimeras with normal cells they produce functional sperm. These studies establish that the paternal and maternal genomes can individually provide both the signal and the response required for the specification of germ cells in mammals.

Animals↗
PubMed2006

Paternal and maternal factors in preimplantation embryogenesis: interaction with the biochemical environment.

Paternal effect on embryonic development occurs as early as fertilization. Incorrect formation of the spermatozoon due to centrosome defects and abnormal concentrations of any components involved in the activation process lead to failure immediately or in the subsequent cell cycles. Sperm chromosomal abnormalities result in early embryo developmental arrests. Generally poor spermatozoa lead to poor blastocyst formation. Sperm DNA fragmentation may impair even late post-implantation development. The DNA repair capacity of the oocytes is of major importance. Early preimplantation development, i.e. until maternal to zygotic transition, is maternally driven. Maternal mRNAs and proteins are of major importance, as there is an unavoidable turnover of these reserves. Polyadenylation of these mRNAs is precisely controlled, in order to avoid too early or too late transcription and translation of the housekeeping genes. An important set of maternal regulations, such as DNA stability, transcriptional regulation and protection against oxidative stress, are impaired by age. The embryo biochemical endogenous pool is very important and may depend upon the environment, i.e. the culture medium. Paternal, maternal and environmental factors are unavoidable parameters; they become evident when age impairs oocyte quality.

Apoptosis↗
PubMed2004

Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable.

Many couples are now seeking preimplantation genetic diagnosis (PGD) and fluorescence in-situ hybridization (FISH) as an alternative approach to avoid spontaneous abortion by ensuring transfer of presumed chromosomally normal embryos. This case report describes unexpected findings in a couple having three spontaneous abortions and two failed IVF cycles. In two IVF PGD cycles, four of 13 (30.8%) embryos (blastomeres) demonstrated duplication involving the Down syndrome critical region, detectable by a locus specific chromosome 21 probe. The same duplication was subsequently detected by FISH in 66 of 1002 (6.6%) sperm nuclei, demonstrating paternal gonadal mosaicism. Cytogenetic studies of peripheral blood revealed normal karyotypes in both the male and female partners. This identification of paternal germ cell or gonadal mosaicism suggests that analysis of sperm nuclei prior to undergoing IVF with PGD may be of value in patients with recurrent spontaneous abortions or multiple failed IVF.

Abortion, Habitual↗
PubMed1995

Partial deletion of the Y chromosome removes the effect of paternal genome imprinting on periovum sensitivity to hyaluronidase in mice.

Cumulus-oocyte complexes from the two consomic strains of mice, B10.BR and B10.BR-Ydel (with a partial deletion of the Y chromosome) and the BALB/c strain, as well as reciprocal F1 and F2 hybrids, were tested for their susceptibility to attack by hyaluronidase. The cumulus cell dispersal was significantly more rapid in the eggs of B10.BR females and of F1 and F2 hybrid females sired by the B10.BR males than in those of BALB/c females and hybrids sired by BALB/c males. These results confirm the earlier data of Bander et al. (1989) which were interpreted as evidence of paternal imprinting of the C57BL genome. In contrast, cumulus cell dispersal in the eggs of females sired by B10.BR-Ydel males was significantly slower than in females sired by B10.BR males, and did not differ from that in the BALB/c strain. The results suggest that the partial deletion of the Y chromosome abolished the effect of paternal genome imprinting which is observed in the B10.BR strain.

Animals↗
PubMed2002

Effects of seed dispersal on spatial genetic structure in populations of Rutidosis leptorrhychoides with different levels of correlated paternity.

Rutidosis leptorrynchoides is a perennial forb endemic to grasslands and grassy woodlands in southeastern Australia. Studies of seed dispersal, spatial genetic structure and clonality were carried out in four populations around the Canberra region that varied in levels of correlated paternity to examine: (1) whether R. leptorrhynchoides populations exhibit fine-scale spatial genetic structure and whether this varies between populations as a function of correlated paternity; (2) whether there is a correlation between seed dispersal distance and genetic relatedness within populations; and (3) whether clonal reproduction occurs in this species and to what degree this could account for the observed spatial genetic structure. The results show that there is variation in the magnitude and extent of spatial genetic structure between R. leptorrhynchoides populations. The three larger populations, with low to moderate full-sib proportions, showed significant patterns of coancestry between plants over scales of up to one metre, whereas the smallest population, with a high full-sib proportion, had erratically high but non-significant coancestry values. The observed patterns of genetic clumping could be explained by a combination of limited seed dispersal and correlated mating owing to limited mate availability resulting from the species' sporophytic self-incompatibility system. Clonality does not appear to be an important factor contributing to genetic structure in this species.

Australia↗
PubMed2002

Schizophrenia risk and paternal age: a potential role for de novo mutations in schizophrenia vulnerability genes.

How schizophrenia (SZ) is maintained at roughly 1% of the population despite diminished reproduction is one puzzle currently facing researchers. De novo mutations were first proposed over half a century ago as a source for new SZ genes. Current evidence linking advancing paternal age to SZ risk makes revisiting this hypothesis important. Advancing paternal age is the major source of new mutations in the human population. This article will examine potential mechanisms whereby parental age may impact new mutations, as well as review recent data supporting such a hypothesis.

Journal Article↗
PubMed1999

Paternal involvement in child care as a function of maternal employment in nuclear and extended families in India.

Paternal involvement in childcare as a function of family structure and maternal employment status was assessed in 92 dual-wage and 103 single-wage Indian families with preschool-aged children residing in different areas of New Delhi, India. Mothers and fathers completed Radian's Paternal Involvement in Child Care Index (PICCI). Data showed that parents in single-wage families spent more time in primary care-giving compared with parents in dual-wage families. Fathers' involvement scores on the different components of the PICCI did not vary as a function of mother's employment status or family structure. Data are discussed with respect to the rigidity of men's role in a historically patriarchal society.

Asia↗