Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Animals
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Base Sequence
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Chromosome Mapping
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Chromosomes, Human, Pair 17
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Chromosomes, Human, Pair 2
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DNA Primers
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DNA, Single-Stranded / genetics
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DNA-Binding Proteins / genetics*
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DNA-Binding Proteins / physiology
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Disorders of Sex Development / complications
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Disorders of Sex Development / genetics*
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Female
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High Mobility Group Proteins / genetics*
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High Mobility Group Proteins / physiology
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Humans
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Hybrid Cells
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Male
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Mice
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Molecular Sequence Data
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Mutation*
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Nuclear Proteins*
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Osteochondrodysplasias / complications
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Osteochondrodysplasias / genetics*
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Polymorphism, Genetic
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SOX9 Transcription Factor
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Sex-Determining Region Y Protein
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Transcription Factors / genetics*
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Transcription Factors / physiology
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Translocation, Genetic
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Tumor Cells, Cultured
Substances
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DNA Primers
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DNA, Single-Stranded
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DNA-Binding Proteins
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High Mobility Group Proteins
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Nuclear Proteins
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SOX9 Transcription Factor
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SOX9 protein, human
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SRY protein, human
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Sex-Determining Region Y Protein
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Sox9 protein, mouse
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Sry protein, mouse
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Transcription Factors