Template:Sex development genes table: Difference between revisions
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! colspan=5|<center>Mammalian Sexual Development Genes</center> | ! colspan=5|<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] link) | ||
| 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''' | ||
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| 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 | ||
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| 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 | ||
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| colspan="5" valign="top" | '''Testis-determining pathway''' | | colspan="5" 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 |
Revision as of 12:45, 6 June 2017
Gene (https://www.omim.org OMIM] link) | 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 | ||||
https://www.omim.org/entry/600576 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 | [Developmental_Signals_-_Homeobox|Transcription factor] | Blockage of testicular descent | Cryptorchidism | |
Hoxa11 | [Developmental_Signals_-_Homeobox|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) | |
|
a No mutations in human sexual disorders identified to date.
b Candidate gene for 9p deletion, XY sex reversal. | |||
Table modified from <pubmed>17237341</pubmed> |