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J Genet Genomics. 2014 Mar 20;41(3):177-85. doi: 10.1016/j.jgg.2014.01.005. Epub 2014 Jan 28.

Meiotic chromosome behavior in a human male t(8;15) carrier.

Author information

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, Hefei 230027, China.
2
Institute of Clinical Laboratory Medicine, Nanjing Jinling Hospital, Clinical School of Medical College, Nanjing University, Nanjing 210093, China.
3
Department of Andrology, The Affiliated Drum Tower Hospital of Nanjing University Medical College, Nanjing 210008, China.
4
Center for Reproductive Medicine, Anhui Medical University Affiliated Provincial Hospital, Hefei 230061, China.
5
Jinghua Hospital of Shenyang, DongFang Medical Group, Shenyang 110005, China.
6
CAS-Institute of Physics, Hefei National Laboratory for Physical Sciences at Microscale, and School of Life Sciences, University of Science and Technology of China, Hefei 230027, China. Electronic address: qshi@ustc.edu.cn.

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 both common and unique phenotypes of reciprocal translocations involving different chromosomes with the aim of further understanding the regulation of human spermatogenesis.

KEYWORDS:

Chromosomal translocation; Meiosis; Oligozoospermia; Recombination; Synaptonemal complex; Transcriptional inactivation

PMID:
24656237
DOI:
10.1016/j.jgg.2014.01.005
[Indexed for MEDLINE]
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