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Abstract

Volume 19, Issue 6 (November 2017) 19, 619–624; 10.4103/1008-682X.194420

Sex determination and maintenance: the role of DMRT1 and FOXL2

Shengsong Huang1, Leping Ye2, Haolin Chen2

1 Department of Urology, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China
2 Department of Pediatric, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325027, China

Correspondence: Dr. L Ye (yeleping@163.com) or Dr. H Chen (hchen13@jhu.edu)

Date of Submission 09-Apr-2016 Date of Decision 02-Jul-2016 Date of Acceptance 14-Nov-2016 Date of Web Publication 13-Jan-2017

Abstract

In many species, including mammals, sex determination is genetically based. The sex chromosomes that individuals carry determine sex identity. Although the genetic base of phenotypic sex is determined at the moment of fertilization, the development of testes or ovaries in the bipotential early gonads takes place during embryogenesis. During development, sex determination depends upon very few critical genes. When one of these key genes functions inappropriately, sex reversal may happen. Consequently, an individual's sex phenotype may not necessarily be consistent with the sex chromosomes that are present. For some time, it has been assumed that once the fetal choice is made between male and female in mammals, the gonadal sex identity of an individual remains stable. However, recent studies in mice have provided evidence that it is possible for the gonadal sex phenotype to be switched even in adulthood. These studies have shown that two key genes, doublesex and mad-3 related transcription factor 1 (Dmrt1) and forkhead box L2 (Foxl2), function in a Yin and Yang relationship to maintain the fates of testes or ovaries in adult mammals, and that mutations in either gene might have a dramatic effect on gonadal phenotype. Thus, adult gonad maintenance in addition to fetal sex determination may both be important for the fertility.

Keywords: DMRT1; FOXL2; sex determination; sex maintenance

Keywords: DMRT1; FOXL2; sex determination; sex maintenance

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