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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
American Journal of Human Genetics, Volume 87, No. 4, Year 2010
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Description
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. © 2010 The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Bashamboo, Anu
France, Paris
Institut Pasteur, Paris
Ferraz-De-Souza, Bruno
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Loureno, Diana
France, Paris
Institut Pasteur, Paris
Lin, L.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Sebire, Neil J.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Montjean, Debbie
France, Paris
Institut Pasteur, Paris
Bignon-Topalovic, Joelle
France, Paris
Institut Pasteur, Paris
Mandelbaum, Jacqueline
France, Paris
Hôpital Tenon
Siffroi, Jean Pierre
France, Paris
Hôpital Armand-trousseau
Christin-Maître, Sophie
France, Paris
Hôpital Saint-antoine
Radhakrishna, Uppala
United States, Omaha
Creighton University
Rouba, Hassan
Morocco, Casablanca
Institut Pasteur du Maroc
Ravel, Célia
France, Paris
Institut Pasteur, Paris
France, Paris
Hôpital Tenon
Seeler, Jacob
France, Paris
Institut Pasteur, Paris
Achermann, John C.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
McElreavey, Ken D.
France, Paris
Institut Pasteur, Paris
Statistics
Citations: 224
Authors: 16
Affiliations: 8
Identifiers
Doi:
10.1016/j.ajhg.2010.09.009
ISSN:
00029297
Research Areas
Cancer
Genetics And Genomics
Sexual And Reproductive Health
Participants Gender
Male