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Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Bashamboo, A; Ferraz-de-Souza, B; Lourenco, D; Lin, L; Sebire, NJ; Montjean, D; Bignon-Topalovic, J; ... McElreavey, K; + view all (2010) Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. The American Journal of Human Genetics , 87 (4) 505 - 512. 10.1016/j.ajhg.2010.09.009. Green open access

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Abstract

One in seven couples worldwide are infertile, and male factor Infertility accounts for approximately 30%-50% of these cases Although many genes are known to be essential for gametogenesis, there are surprisingly few monogenic mutations that have been conclusively demonstrated to cause human spermatogenic failure. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis, and it is expressed in the steroidogenic tissue of the developing and adult human gonad Mutations of NR5A1 have been reported in 46,XY disorders of sex development and in 46,XX primary ovarian insufficiency To test the hypothesis that mutations in NR5A1 cause male infertility, we sequenced NR5A1 in 315 men with idiopathic spermatogenic failure We identified seven men with severe spermatogenic failure who carried missense mutations in NR5A1. Functional studies indicated that these mutations impaired NR5A1 transactivational activity We did not observe these mutations in more than 4000 control alleles, including the entire coding sequence of 359 normospermic men and 370 fertile male controls. NR5A1 mutations are found in approximately 4% of men with otherwise unexplained severe spermatogenic failure.

Type: Article
Title: Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ajhg.2010.09.009
Publisher version: http://doi.org/10.1016/j.ajhg.2010.09.009
Language: English
Additional information: Copyright © 2010 by The American Society of Human Genetics. Open access under CC BY license-Attribution 3.0 Unported (CC BY 3.0).
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept
URI: https://discovery.ucl.ac.uk/id/eprint/169503
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