Recessive sex-determining genes in human XX male syndrome |
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Authors: | A de la Chapelle G C Koo S S Wachtel |
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Institution: | Department of Medical Genetics University of Helsinki and Folkhalsan Institute of Genetics Helsinki, Finland;Memorial Sloan-Kettering Cancer Center New York, New York 10021 USA;Memorial Sloan-Kettering Cancer Center and Department of Pediatrics New York Hospital-Cornell Medical Center New York, New York 10021 USA |
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Abstract: | Maleness is normally inherited as a dominant trait (a single copy of the Y chromosome induces testicular differentiation of the embryonic gonad), but our genealogic study of three XX males in one pedigree indicated an autosomal recessive mode of male inheritance. Subsequent study revealed the presence of H-Y antigens in the three XX males and in their mothers, and suggested that excess H-Y may be found in the fathers. Inasmuch as H-Y loci have been mapped to the human Y chromosome, these data favor the view that H-Y structural loci comprise a family of testis-determining genes, and that Y autosome (or Y-X) translocation can generate either dominant or recessive modes of XX sex reversal, depending upon the particular portion of H-Y genes transferred. |
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