Jump to: navigation, search
External IDsGeneCards: [1]
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)n/an/a
PubMed searchn/an/a
View/Edit Human

Doublesex and mab-3 related transcription factor 1, also known as DMRT1, is a protein which in humans is encoded by the DMRT1 gene.[1][2][3]


This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes, and is found to be the key sex-determining factor in chickens.[4] This gene exhibits a gonad-specific and sexually dimorphic expression pattern, just like the related doublesex gene in fruit flies. Defective testicular development and XY feminization occur when this gene is hemizygous.[1]

The DMRT1 gene is located at the end of the 9th chromosome. This gene is a dose sensitive transcription factor protein that regulates Sertoli cells and germ cell. The majority DMRT1 protein is located in the testicular cord and Sertoli cells, with a small amount in the germ cells. Two copies of the DMRT1 gene are required for normal sexual development. When a DMRT1 gene is lost the most common disease is chromosome 9p deletion, which causes abnormal testicular formation and feminization. The DMRT1 gene is critical in the male sex determination and without this gene the default female characteristic takes over and male characteristic is slight or non-existent. In the knockout model of this gene, the mice showed changes in both Sertoli and germ cells soon after the gonadal ridge was formed. The main defects associated with this knockout gene were developmental arrest, excess proliferation of germ cells, and failure to undergo meiosis, mitosis, or migration. Thus, the knockout model shows that loss of the DMRT1 gene is associated with incomplete germ cell development leading to infertility, abnormal testicular formation, and/or feminization of the affected individual.


  1. 1.0 1.1 "Entrez Gene: DMRT1 doublesex and mab-3 related transcription factor 1".
  2. Raymond CS, Shamu CE, Shen MM, Seifert KJ, Hirsch B, Hodgkin J, Zarkower D (February 1998). "Evidence for evolutionary conservation of sex-determining genes". Nature. 391 (6668): 691–5. doi:10.1038/35618. PMID 9490411.
  3. Raymond CS, Parker ED, Kettlewell JR, Brown LG, Page DC, Kusz K, Jaruzelska J, Reinberg Y, Flejter WL, Bardwell VJ, Hirsch B, Zarkower D (June 1999). "A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators". Hum. Mol. Genet. 8 (6): 989–96. doi:10.1093/hmg/8.6.989. PMID 10332030.
  4. Smith CA, Roeszler KN, Ohnesorg T, Cummins DM, Farlie PG, Doran TJ, Sinclair AH (August 2009). "The avian Z-linked gene DMRT1 is required for male sex determination in the chicken". Nature. 461 (7261): 267–71. doi:10.1038/nature08298. PMID 19710650.
  1. Anthony D. Krentza,b, Mark W. Murphya, Shinseog Kima,1, Matthew S. Cookc, Blanche Capelc, Rui Zhud, Angabin Matind, Aaron L. Sarvere, Keith L. Parkerf, Michael D. Griswoldg, Leendert H. J. Looijengah, Vivian J. Bardwella and David Zarkower. "The DM Domain Protein DMRT1 Is a Dose-sensitive Regulator of Fetal Germ Cell Proliferation and Pluripotency." The DM Domain Protein DMRT1 Is a Dose-sensitive Regulator of Fetal Germ Cell Proliferation and Pluripotency. PNAS, 29 Oct. 2009. Web. 12 Mar. 2014.
  2. Christopher S. Raymond1, Emily D. Parker2, Jae R. Kettlewell1, Laura G. Brown3, David C. Page3, Kamila Kusz4, Jadwiga Jaruzelska4, Yuri Reinberg5, Wendy L. Flejter6, Vivian J. Bardwell1,2, Betsy Hirsch7 and David Zarkower1. "Human Molecular Genetics." A Region of Human Chromosome 9p Required for Testis Development Contains Two Genes Related to Known Sexual Regulators. Oxford Journal, n.d. Web. 28 Feb. 2014.
  3. Craig A. Smith, Kelly N. Roeszler, Thomas Ohnesorg, David M. Cummins, Peter G. Farlie, Timothy J. Doran & Andrew H. Sinclair. "The Avian Z-linked Gene DMRT1 Is Required for Male Sex Determination in the Chicken." Nature, 26 Aug. 2009. Web. 12 Mar. 2014.
  4. "DMRT1 Gene." - GeneCards. Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science, 23 Oct. 2013. Web. 12 Mar. 2014.
  5. Ning Lei, Kaori I. Hornbaker, Daren A. Rice, Tatiana Karpova, Valentine A. Agbor, and Leslie L. Heckert. "Sex-specific Differences in Mouse DMRT1 Expression Are Both Cell Type- and Stage-dependent during Gonad Development." Sex-specific Differences in Mouse DMRT1 Expression Are Both Cell Type- and Stage-dependent during Gonad Development. NIH Public Access, 13 June 2007. Web. 12 Mar. 2014.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.