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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

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