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The Role of SOX9 in Autosomal Sex Reversal and Campomelic Dysplasia [and Discussion]
In eutherian mammals, the Y-chromosome gene SRY is required for induction of testis development. Although the Y chromosome is sex determining, loci located elsewhere in the genome participate in the complex cascade of genetic interactions required to form a testis. Male to female sex reversal (46,XY...
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Published in: | Philosophical transactions of the Royal Society of London. Series B. Biological sciences 1995-11, Vol.350 (1333), p.271-278 |
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Main Authors: | , , , , , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | In eutherian mammals, the Y-chromosome gene SRY is required for induction of testis development. Although the Y chromosome
is sex determining, loci located elsewhere in the genome participate in the complex cascade of genetic interactions required
to form a testis. Male to female sex reversal (46,XY females) occurs at a high frequency in individuals afflicted with the
skeletal malformation syndrome campomelic dysplasia. Chromosomal translocations in individuals with both syndromes had localized
an autosomal sex reversal locus (SRA1) and a campomelic dysplasia locus (CMPD1) to the long arm of human chromosome 17. The
molecular cloning of a translocation breakpoint in a sex reversed campomelic dysplasia patient revealed its proximity to SOX9,
a gene which is related to SRY. Analysis of SOX9 in patients without chromosomal rearrangements demonstrated single allele
mutations in sex reversed campomelic individuals, linking this gene with both bone formation and control of testis development.
Identification of SOX9 as SRA1/CMPD1 and the role of SOX9 mutations in sex reversal and campomelic dysplasia are discussed. |
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ISSN: | 0962-8436 1471-2970 |
DOI: | 10.1098/rstb.1995.0161 |