Pachytene analysis in a 17;21 reciprocal translocation carrier: role of the acrocentric chromosomes in male sterility

1987 ◽  
Vol 77 (3) ◽  
pp. 246-250 ◽  
Author(s):  
J. M. Luciani ◽  
M. R. Guichaoua ◽  
D. Delafontaine ◽  
M. O. North ◽  
O. Gabriel-Robez ◽  
...  
Genetics ◽  
1998 ◽  
Vol 149 (1) ◽  
pp. 143-155 ◽  
Author(s):  
Bruce D McKee ◽  
Kathy Wilhelm ◽  
Cynthia Merrill ◽  
Xiao-jia Ren

Abstract In Drosophila melanogaster, deletions of the pericentromeric X heterochromatin cause X-Y nondisjunction, reduced male fertility and distorted sperm recovery ratios (meiotic drive) in combination with a normal Y chromosome and interact with Y-autosome translocations (T(Y;A)) to cause complete male sterility. The pericentromeric heterochromatin has been shown to contain the male-specific X-Y meiotic pairing sites, which consist mostly of a 240-bp repeated sequence in the intergenic spacers (IGS) of the rDNA repeats. The experiments in this paper address the relationship between X-Y pairing failure and the meiotic drive and sterility effects of Xh deletions. X-linked insertions either of complete rDNA repeats or of rDNA fragments that contain the IGS were found to suppress X-Y nondisjunction and meiotic drive in Xh−/Y males, and to restore fertility to Xh−/T(Y;A) males for eight of nine tested Y-autosome translocations. rDNA fragments devoid of IGS repeats proved incapable of suppressing either meiotic drive or chromosomal sterility. These results indicate that the various spermatogenic disruptions associated with X heterochromatic deletions are all consequences of X-Y pairing failure. We interpret these findings in terms of a novel model in which misalignment of chromosomes triggers a checkpoint that acts by disabling the spermatids that derive from affected spermatocytes.


1984 ◽  
Vol 44 (2) ◽  
pp. 219-224 ◽  
Author(s):  
Ursula Mittwoch ◽  
Shantha Mahadevaiah ◽  
Leslie A. Setterfield

SUMMARYTwo male-sterile chromosome anomalies, the insertion Is(7; 1)40H and the tertiary trisomy, Ts(512)31H, were found to be associated with reduced ovarian volumes in immature females. Together with the reciprocal translocation, T(11; 19)42H, in which this effect was described previously, reduced ovaries have been found in all three male-sterile chromosome anomalies investigated so far, suggesting that ovarian involvement is likely to be common in these conditions. Assuming that the smaller ovarian size reflects a reduction in the number of oocytes, it is suggested that male-sterile chromosome anomalies may exert basically similar deleterious effects on meiotic germ cells in males and females, the difference in outcome being due to cell-physiological differences between spermatocytes and oocytes and to the small number of surviving oocytes required for fertility in females.


2017 ◽  
Vol 13 (11) ◽  
pp. e1363945 ◽  
Author(s):  
M. Shahid Mukhtar ◽  
Xiaoyu Liu ◽  
Imre E. Somssich
Keyword(s):  

2010 ◽  
Vol 152A (11) ◽  
pp. 2886-2887
Author(s):  
Altug Koç ◽  
Sefik Guran ◽  
Muhterem Bahce

2010 ◽  
Vol 365 (1544) ◽  
pp. 1265-1272 ◽  
Author(s):  
Shannon R. McDermott ◽  
Mohamed A. F. Noor

Meiotic drive causes the distortion of allelic segregation away from Mendelian expected ratios, often also reducing fecundity and favouring the evolution of drive suppressors. If different species evolve distinct drive-suppressor systems, then hybrid progeny may be sterile as a result of negative interactions of these systems' components. Although the hypothesis that meiotic drive may contribute to hybrid sterility, and thus species formation, fell out of favour early in the 1990s, recent results showing an association between drive and sterility have resurrected this previously controversial idea. Here, we review the different forms of meiotic drive and their possible roles in speciation. We discuss the recent empirical evidence for a link between drive and hybrid male sterility, also suggesting a possible mechanistic explanation for this link in the context of chromatin remodelling. Finally, we revisit the population genetics of drive that allow it to contribute to speciation.


2021 ◽  
Author(s):  
Shaoqin Zhang ◽  
jianjiang zhu ◽  
Hong Qi ◽  
Limei Xu ◽  
Lirong Cai ◽  
...  

Abstract IntroductionPreimplantation genetic testing (PGT) had widely been applied in reciprocal translocation carriers to improve the clinical outcome of assisted reproduction. De novo mosaicism balanced reciprocal translocations in fetus conceived using PGT from a balanced translocation carrier parent has been rarely reported, and the driving mechanism is not clearly. MethodsChromosomal microarray analysis (CMA) , karyotype analysis and fluorescent in situ hybridization (FISH) were performed to verify the type and heredity of the rearrangement. STR analysis was used to identify potential contamination as well as kinship verification and identification. ResultsA rare de novo mosaicism balanced reciprocal translocation t(1,3)(q42;q25) in fetus conceived using PGT-SR from a t(12;14)(q22;q13) balanced translocation carrier father was been diagnosed by multiplatform genetic techniques. At 31 weeks and 2 days of gestation, premature delivery was caused by uncontrollable uterine contractions. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range. ConclusionPGT cases still need close observation in prenatal diagnosis and long-term follow-up.


Author(s):  
Ketan K. Vaghasia ◽  
Nidhi D. Shah ◽  
Parth S. Shah ◽  
Vidhi M. Bhatt ◽  
Sandip C. Shah ◽  
...  

Objective: This study was undertaken to elucidate the role of heteromorphism in causation of reproductive anomalies like infertility.Methods: In our study, cytogenetic analysis of 830 suspected referral cases of both sexes were assessed using standard karyotypic technique with Giemsa staining from their blood samples. We identified heteromorphism of D/G groups and non-acrocentric chromosomes following WHO nomenclature.Results: Our data revealed that most of our heteromorphic cases (38;4.58%) were related to p arm satellites (ps+) of the chromosomes and are related to infertility and abortion. No significant gender variation was noticed in this study.Conclusion: We hence, suggest that heteromorphism is associated with a loss of reproductive function, as heterochromatin may contain genes that regulate cellular roles in reproduction. Further, it becomes important that such cases are considered for molecular studies, genetic counseling and prenatal/pre-implantation screening.


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