Template:Sex development genes table: Difference between revisions
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| valign="top" | Persistent Müllerian duct syndrome | | valign="top" | Persistent Müllerian duct syndrome | ||
|- | |- | ||
| valign="top" | ''Pax2'' | | valign="top" | [https://www.omim.org/entry/167409 ''Pax2''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Dysgenesis of mesonephric tubules | | valign="top" | Dysgenesis of mesonephric tubules | ||
| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Lim1'' | | valign="top" | [https://www.omim.org/entry/601999 ''Lim1''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Agenesis of Wolffian and Müllerian ducts | | valign="top" | Agenesis of Wolffian and Müllerian ducts | ||
| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|- | |- | ||
| valign="top" | ''Dmrt1'' | | valign="top" | [https://www.omim.org/entry/602424 ''Dmrt1''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Loss of Sertoli and germ cells | | valign="top" | Loss of Sertoli and germ cells | ||
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| colspan="4" valign="top" | '''Ovary-determining pathway''' | | colspan="4" valign="top" | '''Ovary-determining pathway''' | ||
|- | |- | ||
| valign="top" | ''Wnt4'' | | valign="top" | [https://www.omim.org/entry/603490 ''Wnt4''] | ||
| valign="top" | Signaling molecule | | valign="top" | Signaling molecule | ||
| valign="top" | Müllerian duct agenesis, testosterone synthesis, and coelomic vessel formation | | valign="top" | Müllerian duct agenesis, testosterone synthesis, and coelomic vessel formation | ||
| valign="top" | XY female (GOF) | | valign="top" | XY female (GOF) | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''FoxL2'' | | valign="top" | [https://www.omim.org/entry/605597 ''FoxL2''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Premature ovarian failure | | valign="top" | Premature ovarian failure | ||
| valign="top" | BPES | | valign="top" | BPES | ||
|- | |- | ||
| valign="top" | ''Dax1'' | | valign="top" | [https://www.omim.org/entry/300473 ''Dax1''] | ||
| valign="top" | Nuclear receptor | | valign="top" | Nuclear receptor | ||
| valign="top" | XY sex reversal (GOF) | | valign="top" | XY sex reversal (GOF) | ||
| valign="top" | XY sex reversal (GOF) | | valign="top" | XY sex reversal (GOF) | ||
|- | |||
| valign="top" | [https://www.omim.org/entry/609595 ''RSPO1''] | |||
| valign="top" | Signaling molecule | |||
| valign="top" | XX sex reversal (LOF) | |||
| valign="top" | XX sex reversal (LOF) | |||
|-bgcolor="CEDFF2" | |||
| colspan="4" valign="top" | '''Table Legend''' | |||
|- | |- | ||
| | | | ||
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<sup>b</sup> Candidate gene for 9p deletion, XY sex reversal. | <sup>b</sup> Candidate gene for 9p deletion, XY sex reversal. | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| colspan=5|Table modified | | colspan=5|Table data modified{{#pmid:17237341|PMID17237341}} | ||
|}<noinclude>[[Category:Template]][[Category:Genital]] [[Category:Table]] [[Category:Molecular]]</noinclude> | |}<noinclude>[[Category:Template]][[Category:Genital]] [[Category:Table]] [[Category:Molecular]]</noinclude> |
Latest revision as of 13:00, 3 June 2018
Gene (OMIM) | Protein Function | Gonad Phenotype of Null Mice | Human Syndrome | |
Bipotential gonad | ||||
Wt1 | Transcription factor | Blockage in genital ridge development | Denys-Drash, WAGR, Frasier syndrome | |
Sf1 | Nuclear receptor | Blockage in genital ridge development | Embryonic testicular regression syndrome | |
Lhx9 | Transcription factor | Blockage in genital ridge development | a | |
Emx2 | Transcription factor | Blockage in genital ridge development | a | |
M33 | Transcription factor | Gonadal dysgenesis | a | |
Testis-determining pathway | ||||
Gata4/Fog2 | Transcription/cofactor | Reduced Sry levels, XY sex reversal | a | |
Sry | Transcription factor | XY sex reversal | XY sex reversal (LOF); XX sex reversal (GOF) | |
Sox9 | Transcription factor | XY sex reversal | Campomelic dysplasia, XX sex reversal (GOF) | |
Sox8 | Transcription factor | XY sex reversal in combination with partial loss of Sox9 function | a | |
Fgf9 | Signaling molecule | XY sex reversal | a | |
Dax1 | Nuclear receptor | Impaired testis cord formation and spermatogenesis | Hypogonadism | |
Pod1 | Transcription factor | XY sex reversal | a | |
Dhh | Signaling molecule | Impaired differentiation of Leydig and PM cells | XY gonadal dysgenesis | |
Pgdra | Receptor | Reduction in mesonephric cell migration | a | |
Pgds | Enzyme | No phenotype | a | |
Arx | Transcription factor | Abnormal testicular differentiation | X-linked lissencephaly with abnormal genitalia | |
Atrx | Helicase | ND | ATRX syndrome | |
Insl3 | Signaling factor | Blockage of testicular descent | Cryptorchidism | |
Lgr8 | Receptor | Blockage of testicular descent | Cryptorchidism | |
Hoxa10 | Transcription factor | Blockage of testicular descent | Cryptorchidism | |
Hoxa11 | Transcription factor | Blockage of testicular descent | Cryptorchidism | |
Amh | Hormone | No Müllerian duct degeneration | Persistent Müllerian duct syndrome | |
Misrl1 | Receptor | No Müllerian duct degeneration | Persistent Müllerian duct syndrome | |
Pax2 | Transcription factor | Dysgenesis of mesonephric tubules | a | |
Lim1 | Transcription factor | Agenesis of Wolffian and Müllerian ducts | a | |
Dmrt1 | Transcription factor | Loss of Sertoli and germ cells | XY femaleb | |
Ovary-determining pathway | ||||
Wnt4 | Signaling molecule | Müllerian duct agenesis, testosterone synthesis, and coelomic vessel formation | XY female (GOF) | |
FoxL2 | Transcription factor | Premature ovarian failure | BPES | |
Dax1 | Nuclear receptor | XY sex reversal (GOF) | XY sex reversal (GOF) | |
RSPO1 | Signaling molecule | XX sex reversal (LOF) | XX sex reversal (LOF) | |
Table Legend | ||||
|
a No mutations in human sexual disorders identified to date.
b Candidate gene for 9p deletion, XY sex reversal. | |||
Table data modified[1] |