Meiotic Chromosome Behavior in a Human Male t(8;15)Carrier  

作　　者：Hanwei Jiang Liu Wang Yingxia Cui Zhipeng Xu Tonghang Guo Dongkai Cheng Peng Xu Wen Yu Qinghua Shi 

机构地区：[1]CAS-Institute of Physics,Hefei National Laboratory for Physical Sciences at Microscale,and School of Life Sciences,University of Science and Technology of China [2]Institute of Clinical Laboratory Medicine,Nanjing Jinling Hospital,Clinical School of Medical College,Nanjing University [3]Department of Andrology,The Affiliated Drum Tower Hospital of Nanjing University Medical College [4]Center for Reproductive Medicine,Anhui Medical University Affiliated Provincial Hospital [5]Jinghua Hospital of Shenyang,DongFang Medical Group

出　　处：《Journal of Genetics and Genomics》2014年第3期177-185,共9页遗传学报（英文版）

基　　金：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.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：Chromosomal translocation OLIGOZOOSPERMIA MEIOSIS Synaptonemal complex Recombination Transcriptional inactivation 

分 类 号：R394[医药卫生—医学遗传学]