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

doi:10.1016/j.jgg.2014.01.005

Volume 41 Issue 3

Mar. 2014

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Article Navigation > Journal of Genetics and Genomics > 2014 > 41(3): 177-185

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

doi: 10.1016/j.jgg.2014.01.005

a
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
b
Institute of Clinical Laboratory Medicine, Nanjing Jinling Hospital, Clinical School of Medical College, Nanjing University, Nanjing 210093, China
c
Department of Andrology, The Affiliated Drum Tower Hospital of Nanjing University Medical College, Nanjing 210008, China
d
Center for Reproductive Medicine, Anhui Medical University Affiliated Provincial Hospital, Hefei 230061, China
e
Jinghua Hospital of Shenyang, DongFang Medical Group, Shenyang 110005, China

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Corresponding author: E-mail address: qshi@ustc.edu.cn (Qinghua Shi)
Received Date: 2013-11-22
Accepted Date: 2014-01-07
Rev Recd Date: 2014-01-06

Available Online: 2014-01-28

Publish Date: 2014-03-20

Abstract

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.
- Chromosomal translocation,
- Oligozoospermia,
- Meiosis,
- Synaptonemal complex,
- Recombination,
- Transcriptional inactivation

These authors contributed equally to this work.

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References(28)

References

[1]	Barlow, A.L., Hulten, M.A. Crossing over analysis at pachytene in man Eur. J. Hum. Genet., 6 (1998),pp. 350-358
[2]	Braun-Falco, M., Schempp, W., Nevinny-Stickel-Hinzpeter, C. et al. Azoospermia due to a unique de novo balanced reciprocal translocation (Y;1) (q12;q25) J. Androl., 28 (2007),pp. 647-651
[3]	Burgoyne, P.S., Mahadevaiah, S.K., Turner, J.M. The consequences of asynapsis for mammalian meiosis Nat. Rev. Genet., 10 (2009),pp. 207-216
[4]	Chandley, A.C., Speed, R.M., McBeath, S. et al. A human 9;20 reciprocal translocation associated with male infertility analyzed at prophase and metaphase I of meiosis Cytogenet. Cell Genet., 41 (1986),pp. 145-153
[5]	Costa, Y., Cooke, H.J. Dissecting the mammalian synaptonemal complex using targeted mutations Chromosome Res., 15 (2007),pp. 579-589
[6]	Debraekeleer, M., Dao, T.N. Cytogenetic studies in male-infertility – a review Hum. Reprod., 6 (1991),pp. 245-250
[7]	Ferguson, K.A., Chow, V., Ma, S. Silencing of unpaired meiotic chromosomes and altered recombination patterns in an azoospermic carrier of a t(8;13) reciprocal translocation Hum. Reprod., 23 (2008),pp. 988-995
[8]	Gabriel-Robez, O., Ratomponirina, C., Dutrillaux, B. et al. Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t(17;21) Cytogenet. Cell Genet., 43 (1986),pp. 154-160
[9]	Godo, A., Blanco, J., Vidal, F. et al. Accumulation of numerical and structural chromosome imbalances in spermatozoa from reciprocal translocation carriers Hum. Reprod., 28 (2013),pp. 840-849
[10]	Johannisson, R., Lohrs, U., Wolff, H.H. et al. Two different XY-quadrivalent associations and impairment of fertility in men Cytogenet. Cell Genet., 45 (1987),pp. 222-230
[11]	Kurahashi, H., Shaikh, T.H., Hu, P. et al. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22) Hum. Mol. Genet., 9 (2000),pp. 1665-1670
[12]	Kurahashi, H., Bolor, H., Kato, T. et al. Recent advance in our understanding of the molecular nature of chromosomal abnormalities J. Hum. Genet., 54 (2009),pp. 253-260
[13]	Leng, M., Li, G., Zhong, L. et al. Abnormal synapses and recombination in an azoospermic male carrier of a reciprocal translocation t(1;21) Fertil. Steril., 91 (2009),pp. e1217-e1222
[14]	Manterola, M., Page, J., Vasco, C. et al. A high incidence of meiotic silencing of unsynapsed chromatin is not associated with substantial pachytene loss in heterozygous male mice carrying multiple simple Robertsonian translocations PLoS Genet., 5 (2009),p. e1000625
[15]	Morel, F., Douet-Guilbert, N., Le Bris, M.J. et al. Meiotic segregation of translocations during male gametogenesis Int. J. Androl., 27 (2004),pp. 200-212
[16]	Oliver-Bonet, M., Benet, J., Sun, F. et al. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure Hum. Reprod., 20 (2005),pp. 683-688
[17]	Oliver-Bonet, M., Ko, E., Martin, R.H. Male infertility in reciprocal translocation carriers: the sex body affair Cytogenet. Genome Res., 111 (2005),pp. 343-346
[18]	Page, S.L., Shin, J.C., Han, J.Y. et al. Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation Hum. Mol. Genet., 5 (1996),pp. 1279-1288
[19]	Pan, Z., Yang, Q., Ye, N. et al. Complex relationship between meiotic recombination frequency and autosomal synaptonemal complex length per cell in normal human males Am. J. Med. Genet. A., 158A (2012),pp. 581-587
[20]	Pigozzi, M.I., Sciurano, R.B., Solari, A.J. Changes in crossover distribution along a quadrivalent in a man carrier of a reciprocal translocation t(11;14) Biocell, 29 (2005),pp. 195-203
[21]	Roeder, G.S. Chromosome synapsis and genetic recombination: their roles in meiotic chromosome segregation Trends Genet., 6 (1990),pp. 385-389
[22]	Sciurano, R., Rahn, M., Rey-Valzacchi, G. et al. The asynaptic chromatin in spermatocytes of translocation carriers contains the histone variant gamma-H2AX and associates with the XY body Hum. Reprod., 22 (2007),pp. 142-150
[23]	Sciurano, R.B., Rahn, M.I., Rey-Valzacchi, G. et al. The role of asynapsis in human spermatocyte failure Int. J. Androl., 35 (2012),pp. 541-549
[24]	Shi, Q., Martin, R.H. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men Reproduction, 121 (2001),pp. 655-666
[25]	Sun, F., Oliver-Bonet, M., Liehr, T. et al. Variation in MLH1 distribution in recombination maps for individual chromosomes from human males Hum. Mol. Genet., 15 (2006),pp. 2376-2391
[26]	Van Assche, E., Bonduelle, M., Tournaye, H. et al. Cytogenetics of infertile men Hum. Reprod., 11 (1996),pp. 1-24
[27]	Wojtasz, L., Cloutier, J.M., Baumann, M. et al. Meiotic DNA double-strand breaks and chromosome asynapsis in mice are monitored by distinct HORMAD2-independent and -dependent mechanisms Genes. Dev., 26 (2012),pp. 958-973
[28]	Yu, W.R., Gabriel-Robez, O., Croquette, M.F. et al. XY-quadrivalent association and sterility in a man carrier of a reciprocal autosomal translocation involving the whole arm of an acrocentric chromosome t(2;15)(q21.3;cen) Andrologia, 27 (1995),pp. 171-174