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Paternal loss (pal): a meiotic mutant in Drosophila melanogaster causing loss of paternal chromosomes.

The effects of a male-specific meiotic mutant, paternal los (pal), in D. melanogaster have been examined genetically. The results indicate the following: (1) When homozygous in males, pal can cause loss, but not nondisjunction, of any chromosome pair. The pal-induced chromosome loss produces exceptional progeny that apparently failed to receive one, or more, paternal chromosomes and, in addition, mosaic progeny during whose early mitotic divisions one or more paternal chromosomes were lost. (2) Only paternally derived chromosomes are lost. (3) Mitotic chromosome loss can occur in homozygous pal+progeny of pal males. (4) Chromosomes differ in their susceptibility to pal-induced loss. The site responsible for the insensitivity vs. sensitivity of the X chromosome to pal mapped to the basal region of the X chromosome at, or near, the centromere. From these results, it is suggested that pal+acts in male gonia to specify a product that is a component of, or interacts with, the centromeric region of chromosomes and is necessary for the normal segregation of paternal chromosomes. In the presence of pal, defective chromosomes are produced and these chromosomes tend to get lost during the early cleavage divisions of the zygote. (5) The loss of heterologous chromosome pairs is not independent; there are more cases of simultaneous loss of two chromosomes than expected from independence. Moreover, an examination of cases of simultaneous somatic loss of two heterologs reveals an asymmetry in the early mitotic divisions of the zygote such that when two heterologs are lost at a somatic cleavage division, almost invariably one daughter nucleus fails to get either, and the other daughter nucleus receives its normal chromosome complement. It is suggested that this asymmetry is not a property of pal but is rather a normal process that is being revealed by the mutant. (6) The somatic loss of chromosomes in the progeny of pal males allows the construction of fate maps of the blastoderm. Similar fate maps are obtained using data from gynandromorphs and from marked Y chromosome (nonsexually dimorphic) mosaics.

Animals

[Paternity index. Application to a sample of 48 trios presumptive father-mother-child. Study of the relationship between the probability of paternity and the percentage of exclusion].

Two different indices are of interest in paternity diagnosis. 1. The proportion of men whose paternity is excluded by mother and child phenotypes. 2. The posterior probability of paternity, obtained by a bayesian process from the phenotypes of putative father, mother and child. These two indices are different, and it is proposed that the first one be used for gauging the value of the second. Two examples of the method are given: first, a sample of 48 putative father-mother-child trios, observed in the probability of paternity versus proportion of excluded men plane at different steps on the laboratory examinations, second, the figure obtained for a child for whom two putative fathers were at examination.

Paternity

[Calculation of the Chance of paternity exclusion and of the probability of paternity for the HLA system (author's transl)].

The genetics of the serological defined SD antigens of the HLA system, which are governed by three closely linked loci (HLA-A, HLA-B and HLA-C) situated on the chromosome C6, are described. Regarding patermity testing, only the antigens coded by the loci HLA-A and HLA-B are used routinely up to now. Because of the strong linkage disequilibrium between these two loci, they cannot be considered as independent. The influence of the linkage disequilibrium on the calculation of the chance of paternity exclusion and of the plausibility of paternity is discussed and demonstrated in several examples.

Adult

[Calculation of the probability of paternity and of the chance of paternity exclusion for the HLA system using only the typing results from the child and the putative father (author's transl)].

A method for the calculation of the probability of paternity for the HLA system using only the typing results from the child and the putative father, without taking into account the data of the mother, is presented. Furthermore, the usability of the formulas by Mayr and Pausch (Z. Immun.-Forsch. 150, 447 (1975)) for the computation of the chance of paternity exclusion in such cases is demonstrated.

Austria

Monitoring the fate of paternal mitochondria and their elimination in rice zygotes.

Mitochondria are preferentially transmitted from the maternal plant in most angiosperms, including rice, and paternal mitochondria are generally eliminated during microgametogenesis and/or in zygotes. The mechanism by which paternal mitochondria are eliminated progresses during plant reproductive processes. In the present study, we examined the distribution of paternal mitochondria in rice sperm cells and zygotes produced through the in vitro fertilization (IVF) of isolated rice gametes. Male gametes of rice possess mitochondria with nucleoids, suggesting the potential transfer of paternal mitochondria and their DNA into zygotes on fertilization and subsequent selective elimination of paternal mitochondria in the zygote. To intensively monitor the fate of rice paternal mitochondria in zygotes immediately after gamete fusion, time-lapse observations were conducted in paternal mitochondria labeled with GFP from rice zygotes produced using an IVF system. The results showed that the paternal mitochondria are progressively degraded during the early developmental stage at 1 to 3 h after fusion (HAF), leaving a small number of paternal mitochondria at 6 HAF. The remaining paternal mitochondria were considered to be degraded in later developmental-stage zygotes because paternal mitochondrial DNA-derived single-nucleotide polymorphisms were not detected in the sequencing reads of genomic DNA prepared from inter-subspecific hybrid rice. In addition, treatment with autophagy inhibitors stabilized the paternal mitochondria in zygotes. This suggests that the autophagy-dependent massive and selective elimination machinery for male mitochondria functions in rice zygotes immediately after gamete fusion and supports the strict maternal inheritance of mitochondria in rice.

Oryza

Associations Between Paternal Pre-Conceptional Body Mass Index and Lifestyle Factors and Offspring Weight Development.

BACKGROUND: Evidence suggests that pre-conceptional paternal factors, including BMI and diet, may influence offspring development. OBJECTIVES: We examined the associations between paternal BMI, dietary protein intake, glycemic index (GI), smoking and alcohol consumption and offspring development during the first 5 years of life. METHODS: This secondary analysis of an RCT included 162 father-child pairs from pregnancies among women with pre-pregnancy overweight or obesity. Paternal characteristics were reported at gestational week 15, reflecting the preceding 3 months. Offspring anthropometry was measured at birth, 6 and 18 months, 3 and 5 years. Associations were examined using linear mixed models and linear regression models. RESULTS: No consistent associations were found between paternal characteristics and offspring outcomes from birth to 3 years. At age 5, higher paternal BMI was associated with higher offspring BMI z-score (β = 0.07 (CI: 0.03; 0.10)), fat mass index (β = 0.07 kg/m2 (CI: 0.02; 0.12)) and fat-free mass index (β = 0.05 kg/m2 (CI: 0.01; 0.08)). Lower paternal protein intake was associated with higher offspring BMI z-score (β = 0.54 (CI: 0.07; 1.01)) and fat-free mass index (β = 0.60 kg/m2 (CI: 0.13; 1.07)), while moderately higher protein intake was associated with higher waist-to-height ratio (β = 0.03 (CI: 3.00 × 10-3; 0.05)). Higher paternal GI was associated with lower offspring BMI z-score (β = -0.04 (CI: -0.08; -2.14-10-3)) at age 5. Smoking and alcohol were not associated with offspring outcomes. CONCLUSION: Paternal BMI was associated with offspring outcomes at age 5 years, while findings for paternal dietary factors were less consistent.

Humans

Down syndrome, paternal age, maternal age and birth order.

Recent cytogenetic evidence has shown that trisomy 21 can arise, perphaps even in substantial proportion, from paternal nondisjunction. The statistical association between Down syndrome incidence and maternal age, paternal age and birth order has been studied in a sample of over 4000 cases. The size of this sample made it possible to control for the effect of maternal age by single years of age during the search for a paternal age effect and vice versa, and the importance of such stringent control is emphasized. The maternal age association was confirmed with an extremely high degree of statistical significance while no independent effect of paternal age was found; indeed, the rates at paternal ages over 45 years appear to be nearly constant. After adjusting for the effects of parental age, a significant inverse association of birth order with incidence was noted. It also appears that the incidence among very young mothers may be high: for maternal ages 15 years and less the rates seem to be equivalent to those found at 30 or 35 years. In order to help answer the question of whether the maternal age association is the result of increasing rates of nondisjunction or of some other mechanism (for example, an age related defect in a spontaneous abortion screening mechanism), the proportion of cases due to maternal and paternal nondisjunction at different parental ages must be determined.

Adolescent

Risk of neurodevelopmental disorders associated with paternal use of valproate during spermatogenesis: a living meta-analysis-version 1.

OBJECTIVE: To evaluate the association of paternal use of valproate during spermatogenesis compared with paternal use of lamotrigine or levetiracetam on offspring risk of neurodevelopmental disorders (NDDs). METHODS: Eligibility criteria: observational, peer-reviewed studies reporting neurodevelopmental outcomes of children exposed to paternal monotherapy use of valproate vs lamotrigine or levetiracetam during spermatogenesis. INFORMATION SOURCES: the databases PubMed, Embase, Cochrane Library and Web of Science were systematically searched from January 1995 to October 2025.Synthesis of results and risk of bias: a random-effects model was used to estimate pooled HRs and 95% CI, with heterogeneity assessed using I2 statistic for any NDD.We present a meta-analysis of observational, peer-reviewed studies reporting neurodevelopmental outcomes of children exposed to paternal monotherapy use of valproate versus lamotrigine or levetiracetam during spermatogenesis. Given the major regulatory implications of paternal valproate safety, the recent emergence of new population-based data, and the expectation of further large studies, we designed this work as a living systematic review and meta-analysis that will be updated as new eligible evidence becomes available. RESULTS: We identified three eligible studies based on data from (1) Norway and Sweden, (2) Norway and Taiwan and (3) Denmark. As two studies included Norwegian data, their results are referred to as 'Norway 1' and 'Norway 2' for clarity. In the meta-analysis of data from Denmark, Sweden and Norway 1, the pooled HR of offspring NDDs was 1.05 (95% CI 0.87 to 1.27; I2=0.0%), and in meta-analysis of data from Denmark, Sweden and Norway 2, it was 1.03 (95% CI 0.85 to 1.24; I2=0.0%).In the meta-analysis including Taiwan, Denmark, Sweden and Norway 1, the pooled HR was 1.06 (95% CI 0.88 to 1.27; I2=0.0%), and when including data from Taiwan, Denmark, Sweden and Norway 2, the pooled HR was 1.04 (95% CI 0.87 to 1.25; I2=0.0%). CONCLUSIONS: In this living meta-analysis, we found no evidence that paternal exposure to valproate compared with lamotrigine/levetiracetam during spermatogenesis was associated with increased risk of NDDs in offspring.

Humans

Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report.

BACKGROUNDS: Patients with genome-wide paternal uniparental disomy (GWpUPD) usually exhibit clinical features of Beckwith-Wiedemann syndrome (BWS) and a 46,XX karyotype, with all chromosomes showing isodisomy. To date, male patients with GWpUPD and a complete 46,XY karyotype, specifically involving heterodisomy, have not been described. RESULTS: We report a male infant exhibiting classical BWS clinical features. DNA methylation analyses showed paternal-specific methylation across multiple imprinted loci, suggesting GWpUPD. Genetic analysis of autosomes and sex chromosomes indicated two distinct paternal genomes in peripheral blood leukocytes, whereas a normal biparental genome was detected in other tissues under chimeric conditions. These findings indicated that the patient had genome-wide paternal uniparental heterodisomy (GWpUPhD). The SNP array revealed the presence of one copy of the X chromosome and one copy of the Y chromosome, the patient is a chimera composed of 46,XY biparental cells (with maternal X) and 46,XY GWpUPhD cells (with paternal X). CONCLUSIONS: This is the first report of a male patient with a GWpUPhD chimera. We propose a potential mechanism of GWpUPhD formation. Our findings expand the molecular spectrum of GWpUPD and provide valuable insights into its pathogenesis in chimeric conditions. Furthermore, the potential for clinical manifestations unique to 46,XY heterodisomy warrants careful long-term follow-up.

Humans

[The use of the erythrocyte adenylate kinase system in paternity suits].

Authors describe genetically determined polymorphisms, genetical feature and pattern of inheritance of the system of AK. Results and methods used in their studies first in the Hungarian population are reported. On the basis of examination of 1734 persons the incidence of the AK phenotypes was found as follows: AK 1 = 93,59%, AK 2 = 0,05%, and AK 2-1 6,34%. Values of gene frequency: AK1-0,9676, AK2-0,0322. According to the authors findings the maximal (theoretical) chance of the exclusion of paternity on the basis of AK system was 3,02%. In 844 cases of discussed paternity beside the investigation of the systems of A1A2BO, MN, Hp, Rh, Gm/a, x, b), InV(1), Gc, Ss, Kk, Fy(ab), VSP, PGM1, GPT and ADA the system of AK was also studied. In 191 cases (22,62%) the paternity could have been excluded. In 8 cases (0,94%) exclusion of the paternity have been based on the findings of the examination of AK system. In cases of discussed paternity authors recommend the examination of the AK system.

Adenylate Kinase

[The use of the adenosine desaminase (ADA) system in paternity cases].

Authors described genetically determined hereditary polymorphisms and pattern of inheritance of the adnosindesaminase (ADA) system. After a methodical review, results of their own investigations are reported, which were the first in the Hungarian population. The incidence of the ADA phenotypes among 1234 adult persons investigated was found: ADA-1=88%, ADA 2-1=11,58%, ADA 2=0,42%. Rare phenotypes were not detected. Values of gene frequency found: ADA1=0,93,79; ADA2= 0,0621; Results of the investigation of 561 mother-child pairs are also reported. The pattern of inheritance in every case examined was found to be regular. According to the author's data the maximal (theoretical) chance of the exclusion of paternity was 5,48%. In 561 cases of discussed paternity beside the examination of the systems of A1A2BO, MN, Ss, Hp, Rh, Gm(a,x,b), INV (1), Gc, Kk, Fy(a,b), SEP, PGM, GPT, and AK the ADA system was also examined. On the base of the last examinations the paternity could be excluded in 11 (1,97%) cases. In two cases (0,36%) exclusion of the paternity was based on the results of the examination of the ADA-system only. In the biostatistical evaluation of the results of examinations of blood-groups the role of the ADA system seems to be important. Examination of ADA system in cases of disputed paternity is recommended.

Adenosine Deaminase

Reexamination of paternal age effect in Down's syndrome.

Paternal age distribution for 1279 cases of Down's syndrome born in 1952--1968 was compared with the corresponding distribution for the general population, corrected for the maternal age as well as for the year of birth of the patients. Although there was no difference in the mean paternal age, the two distributions differed significantly, largely due to the excess of fathers aged 55 years and over and to the deficit of those aged 40--44 years in the patients born to mothers aged 30 years and over. The overall pattern of the relative incidence of Down's syndrome with advancing paternal age, with maternal age controlled, seems consistent with the hypothesis proposed by Stene et al. (1977). It increased from 0.8 for fathers aged 20--24 years slowly up to 1.2 for those aged 45--49 years, though with an intermediate drop to 0.8 at the age of 40--44 years, and then sharply to 2.4 for those aged 55 years and over. This rising pattern of the relative incidence with paternal age was essentially the same for the patients born in 1952--1960 and for those born in 1961--1968, although the slope was less steep in the latter than in the former group.

Adolescent

Glyoxalase I in studies of paternity cases in Poland.

The distribution of glyoxalase I (GLO) types in cases of disputed paternity is reported. On the basis of 553 paternity cases, it is concluded that the GLO system is a valuable supplement to other systems of genetic markers in cases of disputed paternity. The theoretical probability of paternity exclusion in the GLO system, in the Polish population, is 18.6%.

Blood Group Antigens

[The Duffy blood group system in the determination of paternity].

Authors report in detail recent achievments the investigation of Duffy's blood group system. Genetics of the system is shortly reviewed. Results of their own population-genetical investigation--carried out on 723 non-related persons by the aid of anti-Fy(a) and anti-Fy(b) serum--are also described. According to the author's data frequency of the phenotype Fy(a+b-)=19,63%, of the phenotype Fy(a+b)=50,91%, and of the phenotype Fy(a-b+)=29.46%. Data of the gene-frequency: Fya=0,451; Fyb=0,549. Presence of the gene Fy(-) was not revealed. The Duffy system--among others--was examined in 299 cases of discussed paternity. In 30 cases (10.3%) paternity was excluded on the base of it. In 31 men (8.29%) out of 374 the paternity cystem. Maximal (theoretical) chance of exclusion calculated from the data got in own investigations: 18.625%. Examined and calculated values of the chance of exclusion in cases of opposed homozygotes (12.26%) and in cases of the lack of characteristics (6.36%) were similar to a suitable degree. Technical problems of the investigation are further discussed. Author recommend the use of the examination of Duffy system in cases of discussed paternity.

Blood Group Antigens

Facilitation reaction (enhancing antibodies and suppressor cells) and rejection reaction (sensitized cells) from the mother to the paternal antigens of the conceptus.

Humoral and cellular immune agents of a maternal reaction were investigated during pregnancy. Fluorescence studies performed on mouse placentae at 14 days detected maternal immunoglobulins of mainly IgG1 but also IgG2 subclasses. These immunoglobulins, after acid elution, can rebind the placenta and the thymocytes of the relevant paternal strain in case of allogeneic pregnancies, demonstrating an antibody activity towards both placenta specific and paternal strain antigens. They can specifically enhance a paternal strain tumour allograft on a maternal strain recipient. Spleen cells from an allogeneically pregnant mother can reduce or promote paternal strain tumour allograft on a maternal strain recipient. The aggressive effect is shown with small doses of transferred cells, whereas large doses promote enhancement. The suppression of the cytotoxic response of the recipient was ascribed to T cells by use of anti-theta plus complement. Thus, both the rejection reaction (immune cytotoxic cells) and the facilitation reaction (enhancing antibodies and suppressor cells) were demonstrated during pregnancy.

Animals