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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 SO X9 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 SO X9 as SRA1/CMPD1 and the role of SO X9 mutations in sex reversal and campomelic dysplasia are discussed.
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
August 1996,
Acta paediatrica Japonica : Overseas edition,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
December 2006,
Journal of the Formosan Medical Association = Taiwan yi zhi,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
November 1995,
American journal of human genetics,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
September 2003,
The Journal of biological chemistry,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
January 1997,
Human molecular genetics,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
December 1994,
Cell,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
February 1996,
Human genetics,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
October 1996,
Human molecular genetics,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
January 2010,
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation,
A J Schafer, and
M A Dominguez-Steglich, and
S Guioli, and
C Kwok, and
P A Weller, and
M Stevanovic, and
J Weissenbach, and
S Mansour, and
I D Young, and
P N Goodfellow
July 2001,
The Journal of biological chemistry,
