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AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4

BACKGROUND: Ring chromosomes are often associated with spermatogenetic failure. However, the mechanism is poorly understood. We here reported a single man with severe oligospermia and a ring chromosome 4 with a microdeletion at 4p16.3. METHODS: Synapsis (asSCP3), recombination (as MLH1) and transcri...

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Autores principales: Yao, Qi, Wang, Liu, Yao, Bing, Gao, Hongliu, Li, Weiwei, Xia, Xinyi, Shi, Qinghua, Cui, Yingxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708340/
http://dx.doi.org/10.3978/j.issn.2223-4683.2014.s188
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author Yao, Qi
Wang, Liu
Yao, Bing
Gao, Hongliu
Li, Weiwei
Xia, Xinyi
Shi, Qinghua
Cui, Yingxia
author_facet Yao, Qi
Wang, Liu
Yao, Bing
Gao, Hongliu
Li, Weiwei
Xia, Xinyi
Shi, Qinghua
Cui, Yingxia
author_sort Yao, Qi
collection PubMed
description BACKGROUND: Ring chromosomes are often associated with spermatogenetic failure. However, the mechanism is poorly understood. We here reported a single man with severe oligospermia and a ring chromosome 4 with a microdeletion at 4p16.3. METHODS: Synapsis (asSCP3), recombination (as MLH1) and transcriptional inactivation (as BRCA1) in a testicular biopsy were examined by fluorescence immunostaining. RESULTS: In the oligospermia patient, 35.4% of spermatocytes were in zygotene phase compared with 5.2% in controls. The patient had a significantly reduced recombination frequency with mean of 45.9 MLH1 foci/cell compared with 47.8 in controls. In the patient, chromosome 4 in all pachytene cells displayed loop formation with varying degrees of unpaired regions. BRCA1 localized along asynapsed regions regardless of XY body association. CONCLUSIONS: Ring chromosome 4 might affect the progression of meiosis I prophase, synapse formation, and transcriptional activation of asynapsed areas, and impair male fertility.
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spelling pubmed-47083402016-01-26 AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4 Yao, Qi Wang, Liu Yao, Bing Gao, Hongliu Li, Weiwei Xia, Xinyi Shi, Qinghua Cui, Yingxia Transl Androl Urol Abstract Publication Basic Research BACKGROUND: Ring chromosomes are often associated with spermatogenetic failure. However, the mechanism is poorly understood. We here reported a single man with severe oligospermia and a ring chromosome 4 with a microdeletion at 4p16.3. METHODS: Synapsis (asSCP3), recombination (as MLH1) and transcriptional inactivation (as BRCA1) in a testicular biopsy were examined by fluorescence immunostaining. RESULTS: In the oligospermia patient, 35.4% of spermatocytes were in zygotene phase compared with 5.2% in controls. The patient had a significantly reduced recombination frequency with mean of 45.9 MLH1 foci/cell compared with 47.8 in controls. In the patient, chromosome 4 in all pachytene cells displayed loop formation with varying degrees of unpaired regions. BRCA1 localized along asynapsed regions regardless of XY body association. CONCLUSIONS: Ring chromosome 4 might affect the progression of meiosis I prophase, synapse formation, and transcriptional activation of asynapsed areas, and impair male fertility. AME Publishing Company 2014-09 /pmc/articles/PMC4708340/ http://dx.doi.org/10.3978/j.issn.2223-4683.2014.s188 Text en 2014 Translational Andrology and Urology. All rights reserved.
spellingShingle Abstract Publication Basic Research
Yao, Qi
Wang, Liu
Yao, Bing
Gao, Hongliu
Li, Weiwei
Xia, Xinyi
Shi, Qinghua
Cui, Yingxia
AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
title AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
title_full AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
title_fullStr AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
title_full_unstemmed AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
title_short AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
title_sort ab188. meiotic prophase i defects in an oligospermic man with wolf-hirschhorn syndrome with ring chromosome 4
topic Abstract Publication Basic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708340/
http://dx.doi.org/10.3978/j.issn.2223-4683.2014.s188
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