Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 87, Issue 4, Pages 505-512Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2010.09.009
Keywords
-
Categories
Funding
- Agence Nationale de la Recherche-GIS Institut des Maladies Rues
- March of Dimes Foundation [1-FY07-490]
- EuroDSD in the European Community [201444]
- Portuguese Foundation for Science and Technology
- Agence de la Biomedecine
- Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior (Capes, Brazil) [4798066]
- Wellcome Trust [079666]
- Great Ormond Street Hospital Childrens Charity [V0907] Funding Source: researchfish
Ask authors/readers for more resources
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
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available