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Doublesex and mab-3 related transcription factor 1
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols DMRT1 ; CT154; DMT1
External IDs OMIM602424 MGI1354733 HomoloGene9280 GeneCards: DMRT1 Gene
RNA expression pattern
PBB GE DMRT1 220493 at tn.png
More reference expression data
Species Human Mouse
Entrez 1761 50796
Ensembl ENSG00000137090 ENSMUSG00000024837
UniProt Q9Y5R6 Q9QZ59
RefSeq (mRNA) NM_021951 NM_015826
RefSeq (protein) NP_068770 NP_056641
Location (UCSC) Chr 9:
0.84 – 0.97 Mb
Chr 19:
25.51 – 25.6 Mb
PubMed search [1] [2]

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 of this gene is located in the testicular cord and Sertoli cells, with a small amount in the germ cells. Two copies of this 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. ^ a b "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[edit]

  • *1. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. (PubMed id 10332030)1, 2, 3, 9 Raymond C.S.... Zarkower D. (1999)
  • 2. Evidence for evolutionary conservation of sex-determining genes. (PubMed id 9490411)1, 2, 3, 9 Raymond C.S....Zarkower D. (1998)
  • 3. Variants near DMRT1, TERT and ATF7IP are associated w ith testicular germ cell cancer. (PubMed id 20543847)1, 2, 4 Turnbull C....Rahman N. (2010)
  • 4. Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis. (PubMed id 16617334)1, 2, 9 Cheng H.H....Zhou R.J. (2006)
  • 5. A new submicroscopic deletion that refines the 9p region for sex reversal. (PubMed id 10857744)1, 2, 9 Calvari V.... Guioli S. (2000)
  • 6. A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. (PubMed id 21551455)1, 4 Kanetsky P.A....Nathanson K.L. (2011)
  • 7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  • 8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
  • 9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1,2 Gerhard D.S....Malek J. (2004)
  • 10. The DM domain protein DMRT1 is a dose-sensitive regul ator of fetal germ cell proliferation and pluripotency. (PubMed id 20007774)1, 9 Krentz A.D....Zarkower D. (2009)

External links[edit]

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