Ontology highlight
ABSTRACT:
SUBMITTER: Bashamboo A
PROVIDER: S-EPMC2948805 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Bashamboo Anu A Ferraz-de-Souza Bruno B Lourenço Diana D Lin Lin L Sebire Neil J NJ Montjean Debbie D Bignon-Topalovic Joelle J Mandelbaum Jacqueline J Siffroi Jean-Pierre JP Christin-Maitre Sophie S Radhakrishna Uppala U Rouba Hassan H Ravel Celia C Seeler Jacob J Achermann John C JC McElreavey Ken K
American journal of human genetics 20101001 4
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 express ...[more]