Template:Sex development genes table: Difference between revisions
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! colspan= | ! colspan=4|<center>Mammalian Sexual Development Genes</center> | ||
|-bgcolor="CEDFF2" | |-bgcolor="CEDFF2" | ||
| align="center" valign="bottom" | '''Gene''' | | align="center" valign="bottom" | '''Gene''' ([https://www.omim.org OMIM]) | ||
| align="center" valign="bottom" | '''Protein Function''' | | align="center" valign="bottom" | '''Protein Function''' | ||
| align="center" valign="bottom" | '''Gonad Phenotype of Null Mice''' | | align="center" valign="bottom" | '''Gonad Phenotype of Null Mice''' | ||
| align="center" valign="bottom" | '''Human Syndrome''' | | align="center" valign="bottom" | '''Human Syndrome''' | ||
|- | |||
| colspan=4|<br> | |||
|-bgcolor="CEDFF2" | |-bgcolor="CEDFF2" | ||
| colspan="4" valign="top" | '''Bipotential gonad''' | | colspan="4" valign="top" | '''Bipotential gonad''' | ||
|- | |- | ||
| valign="top" | ''Wt1'' | | valign="top" | [https://www.omim.org/entry/607102 ''Wt1''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Blockage in genital ridge development | | valign="top" | Blockage in genital ridge development | ||
| valign="top" | Denys-Drash, WAGR, Frasier syndrome | | valign="top" | Denys-Drash, WAGR, Frasier syndrome | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Sf1'' | | valign="top" | [https://www.omim.org/entry/184757 ''Sf1''] | ||
| valign="top" | Nuclear receptor | | valign="top" | Nuclear receptor | ||
| valign="top" | Blockage in genital ridge development | | valign="top" | Blockage in genital ridge development | ||
| valign="top" | Embryonic testicular regression syndrome | | valign="top" | Embryonic testicular regression syndrome | ||
|- | |- | ||
| valign="top" | ''Lhx9'' | | valign="top" | [https://www.omim.org/entry/606066 ''Lhx9''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Blockage in genital ridge development | | valign="top" | Blockage in genital ridge development | ||
| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Emx2'' | | valign="top" | [https://www.omim.org/entry/600035 ''Emx2''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Blockage in genital ridge development | | valign="top" | Blockage in genital ridge development | ||
| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|- | |- | ||
| valign="top" | ''M33'' | | valign="top" | [https://www.omim.org/entry/602770 ''M33''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Gonadal dysgenesis | | valign="top" | Gonadal dysgenesis | ||
| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|-bgcolor="CEDFF2" | |-bgcolor="CEDFF2" | ||
| colspan=" | | colspan="4" valign="top"| '''Testis-determining pathway''' | ||
|- | |- | ||
| valign="top" | ''Gata4/Fog2'' | | valign="top" | [https://www.omim.org/entry/600576 ''Gata4'']/[https://www.omim.org/entry/603693 ''Fog2''] | ||
| valign="top" | Transcription/cofactor | | valign="top" | Transcription/cofactor | ||
| valign="top" | Reduced ''Sry'' levels, XY sex reversal | | valign="top" | Reduced ''Sry'' levels, XY sex reversal | ||
| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Sry'' | | valign="top" | [https://www.omim.org/entry/480000 ''Sry''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | XY sex reversal | | valign="top" | XY sex reversal | ||
| valign="top" | XY sex reversal (LOF); XX sex reversal (GOF) | | valign="top" | XY sex reversal (LOF); XX sex reversal (GOF) | ||
|- | |- | ||
| valign="top" | ''Sox9'' | | valign="top" | [https://www.omim.org/entry/608160 ''Sox9''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | XY sex reversal | | valign="top" | XY sex reversal | ||
| valign="top" | Campomelic dysplasia, XX sex reversal (GOF) | | valign="top" | Campomelic dysplasia, XX sex reversal (GOF) | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Sox8'' | | valign="top" | [https://www.omim.org/entry/605923 ''Sox8''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | XY sex reversal in combination with partial loss of ''Sox9'' function | | valign="top" | XY sex reversal in combination with partial loss of ''Sox9'' function | ||
| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|- | |- | ||
| valign="top" | ''Fgf9'' | | valign="top" | [https://www.omim.org/entry/600921 ''Fgf9''] | ||
| valign="top" | Signaling molecule | | valign="top" | [[Developmental Signals - Fibroblast Growth Factor|Signaling molecule]] | ||
| valign="top" | XY sex reversal | | valign="top" | XY sex reversal | ||
| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Dax1'' | | valign="top" | [https://www.omim.org/entry/300473 ''Dax1''] | ||
| valign="top" | Nuclear receptor | | valign="top" | Nuclear receptor | ||
| valign="top" | Impaired testis cord formation and spermatogenesis | | valign="top" | Impaired testis cord formation and spermatogenesis | ||
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| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Dhh'' | | valign="top" | [https://www.omim.org/entry/605423 ''Dhh''] | ||
| valign="top" | Signaling molecule | | valign="top" | Signaling molecule | ||
| valign="top" | Impaired differentiation of Leydig and PM cells | | valign="top" | Impaired differentiation of Leydig and PM cells | ||
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| valign="top" | <sup>a</sup> | | valign="top" | <sup>a</sup> | ||
|- | |- | ||
| valign="top" | ''Arx'' | | valign="top" | [https://www.omim.org/entry/300382 ''Arx''] | ||
| valign="top" | Transcription factor | | valign="top" | Transcription factor | ||
| valign="top" | Abnormal testicular differentiation | | valign="top" | Abnormal testicular differentiation | ||
| valign="top" | X-linked lissencephaly with abnormal genitalia | | valign="top" | X-linked lissencephaly with abnormal genitalia | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Atrx'' | | valign="top" | [https://www.omim.org/entry/300032 ''Atrx''] | ||
| valign="top" | Helicase | | valign="top" | Helicase | ||
| valign="top" | ND | | valign="top" | ND | ||
| valign="top" | ATRX syndrome | | valign="top" | ATRX syndrome | ||
|- | |- | ||
| valign="top" | ''Insl3'' | | valign="top" | [https://www.omim.org/entry/146738 ''Insl3''] | ||
| valign="top" | Signaling factor | | valign="top" | Signaling factor | ||
| valign="top" | Blockage of testicular descent | | valign="top" | Blockage of testicular descent | ||
| valign="top" | Cryptorchidism | | valign="top" | Cryptorchidism | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | ''Lgr8'' | | valign="top" | [https://www.omim.org/entry/606655 ''Lgr8''] | ||
| valign="top" | Receptor | | valign="top" | Receptor | ||
| valign="top" | Blockage of testicular descent | | valign="top" | Blockage of testicular descent | ||
| valign="top" | Cryptorchidism | | valign="top" | Cryptorchidism | ||
|- | |- | ||
| valign="top" | ''Hoxa10'' | | valign="top" | [https://www.omim.org/entry/142957 ''Hoxa10''] | ||
| valign="top" | Transcription factor | | valign="top" | [[Developmental_Signals_-_Homeobox|Transcription factor]] | ||
| valign="top" | Blockage of testicular descent | | valign="top" | Blockage of testicular descent | ||
| valign="top" | Cryptorchidism | | valign="top" | Cryptorchidism | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| valign="top" | '' | | valign="top" | [https://www.omim.org/entry/142958 ''Hoxa11''] | ||
| valign="top" | Transcription factor | | valign="top" | [[Developmental_Signals_-_Homeobox|Transcription factor]] | ||
| valign="top" | Blockage of testicular descent | | valign="top" | Blockage of testicular descent | ||
| valign="top" | Cryptorchidism | | valign="top" | Cryptorchidism | ||
|- | |- | ||
| valign="top" | ''Amh'' | | valign="top" | [https://www.omim.org/entry/600957 ''Amh''] | ||
| valign="top" | Hormone | | valign="top" | Hormone | ||
| valign="top" | No Müllerian duct degeneration | | valign="top" | No Müllerian duct degeneration | ||
Line 127: | Line 128: | ||
| 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 | ||
Line 144: | Line 145: | ||
| 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''' | |||
|- | |- | ||
| | | | ||
| | | colspan=2| | ||
| | |||
* '''BPES''' - blepharophimosis-ptosis-epicanthus inversus syndrome | * '''BPES''' - blepharophimosis-ptosis-epicanthus inversus syndrome | ||
* '''GOF''' - gain-of-function mutation | * '''GOF''' - gain-of-function mutation | ||
Line 171: | Line 178: | ||
<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> |
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] |