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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SRA2 46,XY gonadal dysgenesis, complete or partial , with 9p24 deletion
Location	9p24.3      Physical location : 841.689 - 969.088
Synonym name	DM domain expressed in testis 1
Synonym symbol(s)	SRA2, DMT1, CT154

DNA

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)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021951 5 - 2215 NP_068770 39.3 373 - 2006 16617334 also called DMRT1a variant 3 - - - isoform 3 - 275 - 2006 16617334 also called DMRT1b result from exonization of intronic sequences, including the exonization of an Alu element NM_001363767 5 - 1986 NP_001350696 - 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

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis       Homo sapiens Respiratory lung         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune macrophage Homo sapiens Reproductive germ cell Homo sapiens Reproductive Sertoli cell Homo sapiens Reproductive spermatogonia Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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