Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1
2010; Elsevier BV; Volume: 87; Issue: 5 Linguagem: Inglês
10.1016/j.ajhg.2010.10.029
ISSN1537-6605
AutoresAnu Bashamboo, Bruno Ferraz‐de‐Souza, Diana Lourenço, Lin Lin, Neil J. Sebire, Debbie Montjean, Joëlle Bignon-Topalovic, Jacqueline Mandelbaum, Jean‐Pierre Siffroi, Sophie Christin-Maitre, Uppala Radhakrishna, Hassan Rouba, Célia Ravel, Jacob-S. Seeler, John C. Achermann, Ken McElreavey,
Tópico(s)Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Resumo(The American Journal of Human Genetics 87, 505–512; October 8, 2010) In the original version of this article, affiliation no. 4 was incorrectly listed as “ER 9, IFR 65, Service d'Histologie et de Biologie de la Reproduction, Hopital Tenon, Paris 75019, France.” The affiliation address has been corrected online and appears correctly here. Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1Bashamboo et al.The American Journal of Human GeneticsSeptember 30, 2010In BriefOne 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. Full-Text PDF Open Access
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