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Reprod Biomed Online. 2015 Jun;30(6):651-8. doi: 10.1016/j.rbmo.2015.02.015. Epub 2015 Mar 11.

Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man.

Author information

1
Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
2
Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China; Institute of Pure and Applied Biology, Zoology Division. Bahauddin Zakariya University, Multan 60800, Pakistan. Electronic address: furhan.iqbal@bzu.edu.pk.
3
Department of Urology, the Fourth Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.
4
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
5
Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China. Electronic address: qshi@ustc.edu.cn.

Abstract

Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis and recombination in an azoospermic reciprocal translocation 46, XY, t(5;7;9;13)(5q11;7p11;7p15;9q12;13p12) carrier. Histological examination of the haematoxylin and eosin stained testicular sections revealed reduced germ cells with no spermatids or sperm in the patient. TdT (terminal deoxynucleotidyl transferase)-mediated dUDP nick-end labelling assay showed apoptotic cells in testicular sections of translocation carrier. Immnunofluorescence analysis indicated the presence of an octavalent in all the pachytene spermatocytes analysed in the patient. Meiotic progression was disturbed, as an increase in zygotene (P < 0.001) and decrease in the pachytene spermatocytes (P < 0.001) were observed in the t(5;7;9;13) carrier compared with controls. It was further observed that 93% of octavalents were found partially asynapsed between homologous chromosomes. A significant decrease in the recombination frequency was observed on 5p, 5q, 7q, 9p and 13q in the translocation carrier compared with the reported controls. A significant reduction in XY recombination frequency was also found in the participants. Our results indicated that complex chromosomal rearrangements can impair synaptic integrity of translocated chromosomes, which may reduce chromosomal recombination on translocated as well as non-translocated chromosomes, a phenomenon commonly known as interchromosomal effect.

KEYWORDS:

complex chromosomal rearrangements; infertility; recombination; synaptonemal complex; transcriptional inactivation

PMID:
25892501
DOI:
10.1016/j.rbmo.2015.02.015
[Indexed for MEDLINE]

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