Doublesex- and mab-3-related transcription factor 1 (DMRT1)

Doublesex- and mab-3-related transcription factor 1 (DMRT1) is a site-specific DNA-binding transcription factor containing a DM domain, essential for male sex determination and sexual differentiation in vertebrates[1][2][3]. It regulates the differentiation and maintenance of male somatic and germ cells in the testis, in part by repressing female-promoting genes, maintaining spermatogonial stem cell pools, and promoting spermatogonial differentiation[1]. DMRT1 is also notable for its ability to reprogram somatic cell fates (e.g., converting female granulosa cells to Sertoli-like cells) and functions as a pioneer transcription factor, opening condensed chromatin for transcriptional regulation[1]. Genetic mutations or deletions affecting DMRT1 in humans result in disorders of sexual development such as 46,XY gonadal dysgenesis (Swyer syndrome) and have been associated with susceptibility to testicular germ cell tumors/teratomas[1][2]. Note: DMRT1 is not currently a direct therapeutic target (i.e., there are no drugs that directly act on it), but its role in sexual development and tumor suppression makes it significant for research in reproductive medicine and oncology[2][3].

Other names

DMT1CT154DM domain expressed in testis 1DM domain expressed in testis protein 1doublesex- and mab-3-related transcription factor 1