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FLASH GENE
Symbol DMRT1 contributors: mct - updated : 01-10-2019
HGNC name doublesex and mab-3 related transcription factor 1
HGNC id 2934
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal a zinc finger-like DNA-binding motif (DM domain)
  • a proline and serine-rich region
    • HOMOLOGY
    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
    Homologene
    FAMILY
  • DMRT family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    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
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    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
    REGULATION
    ASSOCIATED DISORDERS
    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
    Susceptibility
  • to testicular germ cell tumor (TGCT)
  • to non-obstructive azoospermia (NOA)
    • Variant & Polymorphism other
  • association between genetic marker rs10977187 and TGCT risk
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • 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