Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.
Induction of testis development in mammals requires the presence of the Y-chromosome gene SRY. This gene must exert its effect by interacting with other genes in the sex-determination pathway. Cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.
Foster
J W
JW
Department of Genetics, University of Cambridge, UK.
Dominguez-Steglich
M A
MA
Guioli
S
S
Kwok
C
C
Weller
P A
PA
Stevanović
M
M
Weissenbach
J
J
Mansour
S
S
Young
I D
ID
Goodfellow
P N
PN
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D002889:Chromosomes, Human, Pair 2; D017931:DNA Primers; D004277:DNA, Single-Stranded / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D012734:Disorders of Sex Development / Q000150:complications / Q000235:genetics*; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics*; D011110:Polymorphism, Genetic; D055758:SOX9 Transcription Factor; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology; D014178:Translocation, Genetic; D014407:Tumor Cells, Cultured
D017931:DNA Primers; D004277:DNA, Single-Stranded; D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; D009687:Nuclear Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C527933:Sox9 protein, mouse; C497746:Sry protein, mouse; D014157:Transcription Factors