Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
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 |
_version_ | 1782409446224297984 |
---|---|
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. |
format | Online Article Text |
id | pubmed-4708340 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | AME Publishing Company |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT yaoqi ab188meioticprophaseidefectsinanoligospermicmanwithwolfhirschhornsyndromewithringchromosome4 AT wangliu ab188meioticprophaseidefectsinanoligospermicmanwithwolfhirschhornsyndromewithringchromosome4 AT yaobing ab188meioticprophaseidefectsinanoligospermicmanwithwolfhirschhornsyndromewithringchromosome4 AT gaohongliu ab188meioticprophaseidefectsinanoligospermicmanwithwolfhirschhornsyndromewithringchromosome4 AT liweiwei ab188meioticprophaseidefectsinanoligospermicmanwithwolfhirschhornsyndromewithringchromosome4 AT xiaxinyi ab188meioticprophaseidefectsinanoligospermicmanwithwolfhirschhornsyndromewithringchromosome4 AT shiqinghua ab188meioticprophaseidefectsinanoligospermicmanwithwolfhirschhornsyndromewithringchromosome4 AT cuiyingxia ab188meioticprophaseidefectsinanoligospermicmanwithwolfhirschhornsyndromewithringchromosome4 |