Translator Disclaimer
7 February 2017 Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure
Ying Shen, Jinyan Xu, Xiling Yang, Yunqiang Liu, Yongyi Ma, Dong Yang, Qiang Dong, Yuan Yang
Author Affiliations +
Abstract

Spermatogenic failure characterized by impaired sperm production is a commonmultifactorial disease with molecular and cytogenetic causes for its extreme phenotype that include azoospermia and severe oliogzoospermia. Recently, a high-resolution array-comparative genomic hybridization analysis of the X chromosome and a subsequent cohort study revealed three X-linked microdeletions (CNV64, CNV67, and CNV69) that were associated with decreased sperm production in a mixed group that included Spanish and Italian males. To confirm their spermatogenic effect, we examined the hemizygous deletions and copy dosage of the MAGE family member A9 (MAGEA9) gene,which is a potential X-linked candidate for the CNV67-related spermatogenic phenotype, to investigate their associationwith spermatogenic failure in 1722 Hanmales from southwest China. The individuals in this group consisted of 884 patients with idiopathic azoospermia/oliogzoospermia and 838 controls with normozoospermia. Our results showed that both CNV64 and CNV69 were more common in patients than in controls. Similar to that reported previously, the CNV67 was also identified as being specific to spermatogenic failure in our population, although it was rare. More importantly, the paralog ratio tests and sequence family variant analyses provided evidence that the CNV67 might cause a partial deletion of the proximal copy of the MAGEA9 and suggests that CNV67-related spermatogenic failure may be attributed to the functional defect of the Cancer/ Testis gene. Our findings highlight the potential of the Xq-linked CNV67 to serve as a novel detection target in the etiological diagnosis of spermatogenic failure and male infertility, although its pathogenic mechanism remains to be elucidated.

Summary Sentence

Xq28-linked CNV67 may cause partial deletion of the proximal copy of the MAGEA9 gene, which provides a potential explanation for the specific effect of the microdeletion to spermatogenic failure.

© The Authors 2017. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com
Ying Shen, Jinyan Xu, Xiling Yang, Yunqiang Liu, Yongyi Ma, Dong Yang, Qiang Dong, and Yuan Yang "Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure," Biology of Reproduction 96(3), 610-616, (7 February 2017). https://doi.org/10.1093/biolre/iox006
Received: 13 December 2016; Accepted: 3 February 2017; Published: 7 February 2017
JOURNAL ARTICLE
7 PAGES


Share
SHARE
ARTICLE IMPACT
RIGHTS & PERMISSIONS
Get copyright permission
Back to Top