Natural Exceptions to Normal Gonad Development in Mammals
@article{Jimnez2012NaturalET, title={Natural Exceptions to Normal Gonad Development in Mammals}, author={Rafael Jim{\'e}nez and Francisco J. Barrionuevo and Miguel Burgos}, journal={Sexual Development}, year={2012}, volume={7}, pages={147 - 162} }
Gonads are the only organs with 2 possible developmental pathways, testis or ovary. A consequence of this unique feature is that mutations in genes controlling gonad development give rise not only to gonadal malformation or dysfunction but also to frequent cases of sex reversal, including XY females, XX males and intersexes. Most of our current knowledge on mammalian sex determination, the genetic process by which the gonadal primordia are committed to differentiate as either testes or ovaries…
30 Citations
Sex Reversal in Non-Human Placental Mammals
- Biology, PsychologySexual Development
- 2016
Known cases of XY and XX sex reversals described in mammals are reviewed, focusing mostly on domestic animals where sex reversal pathologies occur and on wild species in which deviations from the usual XX/XY system have been documented.
Female-to-male sex reversal in mice caused by transgenic overexpression of Dmrt1
- BiologyDevelopment
- 2015
It is reported that enforced expression of Dmrt1 in XX mouse fetal gonads using a Wt1-BAC transgene system is sufficient to drive testicular differentiation and male secondary sex development, suggesting that it has retained sex-determining function.
Inherited Sex-Reversal Mutations in SRY Define a Functional Threshold of Gonadogenesis: Biochemical and Evolutionary Implications of a Rare Monogenic Syndrome
- Biology
- 2015
The known inherited mutations in SRY provide experiments of nature that unmask multi-faceted molecular functions of this specific DNA-bending protein and architectural transcription factor, suggesting that wild-type SRY functions just above a critical transcriptional threshold required for testis formation.
Unusual Mammalian Sex Determination Systems: A Cabinet of Curiosities
- BiologyGenes
- 2021
Current knowledge ofTherian mammals is reviewed, their similarities and differences are discussed, and how the study of their exceptional sex-determining systems can further the understanding of general processes involved in sex chromosome and sex determination evolution is exposed.
Cell fate commitment during mammalian sex determination.
- BiologyCurrent opinion in genetics & development
- 2015
Comprehensive transcriptome analysis of hypothalamus reveals genes associated with disorders of sex development in pigs
- BiologyThe Journal of Steroid Biochemistry and Molecular Biology
- 2021
Sex chromosome transformation and the origin of a male-specific X chromosome in the creeping vole
- BiologyScience
- 2021
It is shown that M. oregoni has lost an independently segregating Y chromosome and that the male-specific sex chromosome is a second X chromosome that is largely homologous to the maternally transmitted X.
Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa).
- Biology, MedicineReproduction, fertility, and development
- 2019
The XX/XY sex chromosome dosage and/or overexpression of the DAX1 gene on the X chromosome in the presence of a wild-type SRY gene may have caused this predominantly female phenotype.
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