Male specific expression suggests role of DMRT1 in human sex determination

Abstract

Sex determination in mammals is controlled by various transcription factors. Following the identification of SRY on the Y chromosome, several other factors have been identified. They can normally be identified as being involved in sex determination by the identification of sex reversal mutations or deletions, functional studies, and also by male-specific expression patterns in embryos. Here, it is shown that DMRT1, recently demonstrated to be deleted in 9p monosomies associated with sex reversal, is specifically expressed during sex determination in the genital ridge of human male, but not female, embryos, similar to SRY.

Sexual dimorphic expression of DMRT1 and Sox9a during gonadal differentiation and hormone‐induced sex reversal in the teleost fish Nile tilapia (Oreochromis niloticus)

“…During gonadal sex differentiation in the chicken, in particular, DMRT1 was found by in situ hybridization to be expressed almost exclusively in the testis, and the signals were localized in the Sertoli cells (Smith et al, 1999(Smith et al, , 2003. Evidence of the male-specific expression of DMRT1 was also obtained in humans, a reptile species and a frog species (Raymond et al, 1999;Smith et al, 1999;Kettlewell et al, 2000;Moniot et al, 2000;Shibata et al, 2002). In teleost fish, several reports indicate that DMRT1 expression is related to the development of the testes (Guan et al, 2000;Marchand et al, 2000;He et al, 2003).…”

A duplicated copy of DMRT1 in the sex-determining region of the Y chromosome of the medaka, Oryzias latipes

“…In the mouse gonad specific expression of DMRT1 is detected at embryonic day 9.5, whereas Sry expression begins around embryonic day 10.5 (18). Also in humans the simultaneous onset of DMRT1 and Sry expression suggested a role of DMRT1 in early events of sex determination (34).…”

High-density linkage mapping aided by transcriptomics documents ZW sex determination system in the Chinese mitten crab Eriocheir sinensis

“…Sex determination in the crab Z Cui et al birds and mammals, and is expressed in the developing male gonad before morphological differentiation (Raymond et al, 1999b;Marchand et al, 2000;Moniot et al, 2000;Smith et al, 2003). In E. sinensis, however, Dmrt1 is on a putative autosome, as in humans (Raymond et al, 1999a) and amphibian Rana rugosa (Aoyama et al, 2003), whereas in chicken and birds, it is Z-linked necessary for testis development (Smith et al, 1999(Smith et al, , 2003Raymond et al, 1999b).…”