| Literature DB >> 8001137 |
T Wagner1, J Wirth, J Meyer, B Zabel, M Held, J Zimmer, J Pasantes, F D Bricarelli, J Keutel, E Hustert, U Wolf, N Tommerup, W Schempp, G Scherer.
Abstract
A human autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1), has been placed at distal 17q. The SOX9 gene, a positional candidate from the chromosomal location and expression pattern reported for mouse Sox9, was isolated and characterized. SOX9 encodes a putative transcription factor structurally related to the testis-determining factor SRY and is expressed in many adult tissues, and in fetal testis and skeletal tissue. Inactivating mutations on one SOX9 allele identified in nontranslocation CMPD1-SRA1 cases point to haploinsufficiency for SOX9 as the cause for both campomelic dysplasia and autosomal XY sex reversal. The 17q breakpoints in three CMPD1 translocation cases map 50 kb or more from SOX9.Entities:
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Year: 1994 PMID： 8001137 DOI： 10.1016/0092-8674(94)90041-8
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 41.582