Template:Sex development genes table: Difference between revisions

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! colspan=5| Mammalian Sexual Development Genes
! 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="5" valign="top" | '''Testis-determining pathway'''
| 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" | ''Hoxal1''
| 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
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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'''
|-
|
| colspan=2|
| colspan=2|
* '''BPES''' - blepharophimosis-ptosis-epicanthus inversus syndrome
* '''BPES''' - blepharophimosis-ptosis-epicanthus inversus syndrome
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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"
| colspan=5|Table modified from <pubmed>17237341</pubmed>
| colspan=5|Table data modified{{#pmid:17237341|PMID17237341}}
|}
|}<noinclude>[[Category:Template]][[Category:Genital]] [[Category:Table]] [[Category:Molecular]]</noinclude>

Latest revision as of 14:00, 3 June 2018

Mammalian Sexual Development Genes
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
  • BPES - blepharophimosis-ptosis-epicanthus inversus syndrome
  • GOF - gain-of-function mutation
  • LOF - loss-of-function mutation
  • ND - not determined
  • WAGR - Wilms' tumor-aniridia-genitourinary malformations-mental retardation
a No mutations in human sexual disorders identified to date.

b Candidate gene for 9p deletion, XY sex reversal.

Table data modified[1]
  1. Wilhelm D, Palmer S & Koopman P. (2007). Sex determination and gonadal development in mammals. Physiol. Rev. , 87, 1-28. PMID: 17237341 DOI.