Symbol
| DMRT1
| contributors: mct - updated : 01-10-2019
|
HGNC name
| doublesex and mab-3 related transcription factor 1
|
HGNC id
| 2934
|
corresponding disease(s)
|
SRA2
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Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
|  
| deletion
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|  
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during fetal development induces postnatal feminization of the testis, causing male-to-female primary sex reversal | |
Susceptibility
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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
| | | |
| 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 |
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