Template:Sex development genes table: Difference between revisions
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! colspan=5| Mammalian Sexual Development Genes | ! colspan=5| Mammalian Sexual Development Genes | ||
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| valign="top" | XY sex reversal (GOF) | | valign="top" | XY sex reversal (GOF) | ||
| valign="top" | XY sex reversal (GOF) | | valign="top" | XY sex reversal (GOF) | ||
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- | |||
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* '''BPES''' - blepharophimosis-ptosis-epicanthus inversus syndrome | * '''BPES''' - blepharophimosis-ptosis-epicanthus inversus syndrome | ||
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* '''ND''' - not determined | * '''ND''' - not determined | ||
* '''WAGR''' - Wilms' tumor-aniridia-genitourinary malformations-mental retardation | * '''WAGR''' - Wilms' tumor-aniridia-genitourinary malformations-mental retardation | ||
<sup>a</sup> No mutations in human sexual disorders identified to date. | <sup>a</sup> No mutations in human sexual disorders identified to date. | ||
<sup>b</sup> Candidate gene for 9p deletion, XY sex reversal. | <sup>b</sup> Candidate gene for 9p deletion, XY sex reversal. | ||
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| Table modified from [http://physrev.physiology.org/content/87/1/1/T1.expansion.html Table 1. Genes implicated in sexual development in mammals] in recent review article.<pubmed>17237341</pubmed>| [http://physrev.physiology.org/content/87/1/1.long Physiol. Rev.] | |||
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Revision as of 12:04, 17 June 2016
Mammalian Sexual Development Genes | ||||
---|---|---|---|---|
Gene | 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 | |
Hoxal1 | 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. | ||||
Physiol. Rev. |