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Meiotic Chromosome Behavior in a Human Male t(8;15) Carrier
引用本文:Han we i Jiang,Liu Wang,Yingxia Cui,Znipeng Xu,Ionghang Guo,Dongkai Cheng,Peng Xu,Wen Yu,Qinfihua Shi. Meiotic Chromosome Behavior in a Human Male t(8;15) Carrier[J]. 遗传学报, 2014, 41(3): 177-185. DOI: 10.1016/j.jgg.2014.01.005
作者姓名:Han we i Jiang  Liu Wang  Yingxia Cui  Znipeng Xu  Ionghang Guo  Dongkai Cheng  Peng Xu  Wen Yu  Qinfihua Shi
作者单位:[1]CAS-hTstitute of Physics, Hefei National LaboratotT for Physical Sciences at Microscale, and School of Life Sciences, University of Science and Technology of China, Hefei 230027, China [2]Institute of Clinical Lztboratoly Medicine, Nanjing Jinling Hospital, Clinical School of Medical College, Nanjing UniversiO; Nanjing 210093, China [3]Department of Andrology; The Affiliated Drum Tower Hospital of Nanjing University Medical Callege, Nanjing 210008, China [4]Center for Repraductive Medicine, Anhui Medical University Affiliated Provincial Hospital, Hefei 230061, China [5]Jinghua Hospital of Shenyang, DongFang Medical Group, Shenyang 11000.5, China
基金项目:supported by the National Basic Research Program of China(973 Program)(Grant Nos. 2013CB947900 and 2013CB945502)of China;the National Natural Science Foundation of China(Grant No.31371519);the Knowledge Innovation Program of the Chinese Academy of Sciences(Grant No.KSCX2-EW-R-07)
摘    要:
Reciprocal translocation is one of the most common structural chromosomal rearrangements in human beings; it is widely recognized to be associated with male infertility. This association is mainly based on the abnormal chromosome behavior of the translocated chromosomes and sex chromosomes during meiosis prophase I in reciprocal translocation carriers. However, the underlying mechanisms are not completely known. Here we report a reciprocal translocation carrier of t(8;15), who is oligozoospermic due to apoptosis of primary spermatocytes and to premature germ cell desquamation from seminiferous tubules. Further analysis showed abnormal synapsis and recombination frequency in this patient, indicating a connection between chromosome behavior and apoptosis of primary spermatocytes. We also compared these observations with recently reported findings on spermatogenesis defects in reciprocal translocation carriers, and discuss the possible mechanisms underlying both common and unique phenotypes of reciprocal translocations involving different chromosomes with the aim of further understanding the regulation of human spermatogenesis.

关 键 词:染色体行为  减数分裂  易位染色体  载波  初级精母细胞  细胞凋亡  可能机制  精子发生
收稿时间:2013-11-22

Meiotic Chromosome Behavior in a Human Male t(8;15)Carrier
Hanwei Jiang,Liu Wang,Yingxia Cui,Zhipeng Xu,Tonghang Guo,Dongkai Cheng,Peng Xu,Wen Yu,Qinghua Shi. Meiotic Chromosome Behavior in a Human Male t(8;15)Carrier[J]. Journal of Genetics and Genomics, 2014, 41(3): 177-185. DOI: 10.1016/j.jgg.2014.01.005
Authors:Hanwei Jiang  Liu Wang  Yingxia Cui  Zhipeng Xu  Tonghang Guo  Dongkai Cheng  Peng Xu  Wen Yu  Qinghua Shi
Affiliation:CAS-Institute
Abstract:
Reciprocal translocation is one of the most common structural chromosomal rearrangements in human beings;it is widely recognized to be associated with male infertility.This association is mainly based on the abnormal chromosome behavior of the translocated chromosomes and sex chromosomes during meiosis prophase I in reciprocal translocation carriers.However,the underlying mechanisms are not completely known.Here we report a reciprocal translocation carrier of t(8;15),who is oligozoospermic due to apoptosis of primary spermatocytes and to premature germ cell desquamation from seminiferous tubules.Further analysis showed abnormal synapsis and recombination frequency in this patient,indicating a connection between chromosome behavior and apoptosis of primary spermatocytes.We also compared these observations with recently reported findings on spermatogenesis defects in reciprocal translocation carriers,and discuss the possible mechanisms underlying bom common and unique phenotypes of reciprocal translocations involving different chromosomes with the aim of further understanding the regulation of human spermatogenesis.
Keywords:
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