title: Abnormal meiotic recombination with complex chromosomal rearrangement in an azoospermic man.
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.
authors.affiliation: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Liu
authors.initials: L
authors.lastname: Wang
authors.affiliation: 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.
authors.forename: Furhan
authors.initials: F
authors.lastname: Iqbal
authors.affiliation: Department of Urology, the Fourth Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.
authors.forename: Guangyuan
authors.initials: G
authors.lastname: Li
authors.affiliation: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Jiang
authors.affiliation: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Ihtisham
authors.initials: I
authors.lastname: Bukhari
authors.affiliation: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Hanwei
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Qingling
authors.initials: Q
authors.lastname: Yang
authors.affiliation: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Liangwen
authors.initials: L
authors.lastname: Zhong
authors.affiliation: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Yuanwei
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Hua
authors.affiliation: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK.
authors.forename: Howard J
authors.initials: HJ
authors.lastname: Cooke
authors.affiliation: 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.
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Shi
mesh_terms: D053713:Azoospermia / Q000235:genetics*; D002869:Chromosome Aberrations; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020287:In Situ Nick-End Labeling; D008297:Male; D008540:Meiosis; D008875:Middle Aged; D011995:Recombination, Genetic; D014178:Translocation, Genetic
keywords: complex chromosomal rearrangements; infertility; recombination; synaptonemal complex; transcriptional inactivation