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Symbol DMRT1 contributors: mct - updated : 01-10-2019
HGNC name doublesex and mab-3 related transcription factor 1
HGNC id 2934
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 127.44 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D9S1779 - D9S1858 - DMRT1 - DMRT3 - DMRT2 - D9S129 - cen
Authors Calvari (00)
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 2215 39.3 373 - 2006 16617334
also called DMRT1a
- - - - 275 - 2006 16617334
  • also called DMRT1b
  • result from exonization of intronic sequences, including the exonization of an Alu element
    5 - 1986 - 215 expression was the lowest in testis 2006 16617334
  • also called DMRT1c
  • result from exonization of intronic sequences, including the exonization of an Alu element
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
    Respiratorylung     Homo sapiens
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage Homo sapiens
    Reproductivegerm cell Homo sapiens
    ReproductiveSertoli cell Homo sapiens
    Reproductivespermatogonia Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • N terminal a zinc finger-like DNA-binding motif (DM domain)
  • a proline and serine-rich region
    interspecies homolog to Drosophila double sex
    homolog to C.elegans MAB-3 related transcription factor 1
    homolog to murine Dmrt1
    intraspecies paralog to DMRT2 and DMRT3
  • DMRT family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • may be required for testis development
  • transcriptional regulator of male differentiation required for testicular development in vertebrates
  • important transcription factor implicated in early testicular differentiation in vertebrates
  • plays diverse and essential roles in development of the vertebrate testis
  • directly regulates genes required for Sertoli cell differentiation, cell-cycle control, tight-junction dynamics, germ cell differentiation, and pluripotency
  • essential role of DMRT1 in testicular differentiation, including transcriptional repression of the meiotic inducer STRA8)
  • controls STRA8 sex-specifically, activating it in the fetal ovary and repressing it in the adult testis
  • essential to maintain mammalian testis determination, and competing regulatory networks maintain gonadal sex long after the fetal choice between male and female
  • its expression in Sertoli cells prevents FOXL2 expression and suggest that DMRT1 mutant testes become feminized during the during the first postnatal month
  • possible role of DMRT1 in the regulation of meiotic entry
  • regulates germ cell pluripotency in a strain-dependent manner
  • conserved transcription factor with an essential role in gonadal function
  • DMRT1 is required for the early steps of Müllerian duct development, and regulates Müllerian ridge and mesenchyme formation and its loss blocks caudal extension of the duct
  • role of changes in DMRT1 dosage in non-obstructive azoospermia (NOA) potentially also through a process of gene misregulation
  • might influence sex-specific patterns of childhood asthma
  • in addition to its crucial role in testis development, SOX9, together with SOX8 and coordinately with DMRT1, also controls adult testis maintenance
  • is required for recovery of spermatogenesis after germ cell depletion
  • shown to play a role in the regulation of sex differentiation in the vertebrate gonad
  • CELLULAR PROCESS nucleotide, transcription
    a component
    DNA binding
    small molecule metal binding,
  • Zn2+
  • protein
  • target of CYP19A1
  • functional relationship between GATA1 and DMRT1, coexpressed in Sertoli cells
  • interaction withSOX9 appear to have swapped roles in the regulatory hierarchy of the vertebrate testis
  • antagonism between DMRT1 and FOXL2 for control of gonadal sex may therefore extend beyond mammals
  • maintains SOX9 and suppresses FOXL2 expression in postnatal Sertoli cells
  • BTRC and FBXW11 regulates the transition from mitosis to meiosis in male germ cells by targeting DMRT1 for degradation
  • cell & other
    corresponding disease(s) SRA2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    during fetal development induces postnatal feminization of the testis, causing male-to-female primary sex reversal
  • to testicular germ cell tumor (TGCT)
  • to non-obstructive azoospermia (NOA)
  • Variant & Polymorphism other
  • association between genetic marker rs10977187 and TGCT risk
  • Candidate gene
    Therapy target
  • loss of Dmrt1 in 129Sv mice results in a high incidence of teratomas and Dmrt1 acts as a dose-sensitive tumor suppressor gene that directly controls transcription of the pluripotency regulator Sox2 in germ cells
  • XY Dmrt1-null mutant mice are born as males with testes, although these gonads later undergo abnormal differentiation
  • Lack of Dmrt1 in the fetal ovary results in the formation of many fewer primordial follicles in the juvenile ovary, although these are sufficient for fertility