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      Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

      Nature
      Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 17, Chromosomes, Human, Pair 2, DNA Primers, DNA, Single-Stranded, genetics, DNA-Binding Proteins, physiology, Disorders of Sex Development, complications, Female, High Mobility Group Proteins, Humans, Hybrid Cells, Male, Mice, Molecular Sequence Data, Mutation, Nuclear Proteins, Osteochondrodysplasias, Polymorphism, Genetic, SOX9 Transcription Factor, Sex-Determining Region Y Protein, Transcription Factors, Translocation, Genetic, Tumor Cells, Cultured

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          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.

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