Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated the origin of XX sex reversal in the insectivorous mole Talpa occidentalis. Cytogenetic, histological and hormonal studies indicate that all XX individuals analyzed from two different populations are true hermaphrodites, with ovotestes. This suggests that XX sex reversal may be the norm in this species. The intersexes are functional fertile females and the trait is transmitted and maintained in the population. Intersexes lack the Y chromosome gene SRY (sex determining region Y gene), shown to be the testis determining gene. These results suggest that XX intersex moles may have arisen from a mutation of a gene located downstream from SRY/TDY in the testis determining pathway.
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PMID:Fertile females of the mole Talpa occidentalis are phenotypic intersexes with ovotestes. 826 56

In mammals the initiation of testis determination usually depends on the Y-chromosomal gene SRY. A few species, however, escape from this rule with a testis determination that is independent of SRY. The mole vole Ellobius lutescens is one of these species. It is not known how testis determination is initiated in this species but it has been suggested that a gene from the sex determination cascade usually acting downstream of SRY is mutated and has taken over the testis-determining function. At present SOX9 is the only candidate gene for which a testis-determining function in the absence of SRY has been observed. To test the hypothesis that testis differentiation in E. lutescens is initiated by SOX9, segregation analysis of SOX9 alleles was performed in an E. lutescens family. As there is no marker data available in this species we screened both Ellobius SOX9 introns for polymorphisms suitable for segregation studies. A biallelic polymorphism was found in the second intron of the SOX9 gene and analysis of this marker in the Ellobius family revealed an inheritance pattern completely independent of the sex of the animals. Thus, SOX9 can be excluded from being the testis-determining factor in E. lutescens. These results provide evidence for another possibly yet unknown gene besides SRY and SOX9 able to exert testis-determining function.
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PMID:Exclusion of SOX9 as the testis determining factor in Ellobius lutescens: evidence for another testis determining gene besides SRY and SOX9. 1116 30

The mammalian Y chromosome has been known for a long time to harbour a gene that triggers testis determination, and this testis-determining factor was identified as SRY in 1990. It has been supposed that SRY was the original mammalian sex-determining gene that initiated the differentiation of the Y from the X early in mammalian evolution, and this belief has been reinforced by an analysis of divergence times. However, I will argue here that SRY evolved quite recently in therian mammals and was not the original mammalian sex-determining gene that defined the X and Y. It arose as a degraded version of the X-borne SOX gene that is better qualified to be a brain-determining gene. It has no central role in sex determination, and can be replaced as a trigger and lost, as have many other Y-borne genes in recent evolutionary history. The mole vole has evidently accomplished this.
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PMID:Evolution of the testis-determining gene--the rise and fall of SRY. 1199 Aug