Open AccessA recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
Author(s) -
Anu Bashamboo,
Patricia A. Donohoue,
Éric Vilain,
Sandra Rojo,
Pierre Calvel,
Sumudu Nimali Seneviratne,
Federica Buonocore,
Hayk Barseghyan,
Nathan C. Bingham,
Jill A. Rosenfeld,
Surya N. Mulukutla,
Mahim Jain,
Lindsay C. Burrage,
Shweta U. Dhar,
Ashok Balasubramanyam,
Brendan Lee,
Marie-Charlotte Dumargne,
Caroline Eozénou,
Jenifer P. Suntharalingham,
KSH De Silva,
Lin Lin,
Joëlle Big-Topalovic,
Françis Poulat,
Carlos F. Lagos,
Ken McElreavey,
John C. Achermann
Publication year - 2016
Publication title -
human molecular genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.811
H-Index - 276
eISSN - 1460-2083
pISSN - 0964-6906
DOI - 10.1093/hmg/ddw390
Subject(s) - steroidogenic factor 1 , biology , genetics , disorders of sex development , gene , transcription factor , nuclear receptor
Cell lineages of the early human gonad commit to one of the two mutually antagonistic organogenetic fates, the testis or the ovary. Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex
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