Abstract
IN mammals, the testis determining gene (TDF), present on the Y chromosome, induces the undifferentiated gonads to form testes1. The position of TDF on the human Y chromosome has been defined by analysing the genomes of XX males and XY females2, generated by abnormal genetic exchange between the X and Y chromosomes in male meiosis3. In this way TDF has been localized close to the pseudoautosomal region shared by the sex chromosomes, in the distal Y-specific region. A recently cloned human gene, ZFY, has many features indicating that it is TDF4–6. For example, ZFY encodes a protein with many features of a transcription factor including a domain with multiple 'zinc-finger' motifs4–6. Less consistent with ZFY being TDF, however, is the presence of a very similar gene, ZFX, on the X chromosome4,7, and the presence of a sequence related to ZFY on autosomes in marsupials8. We now report on analysis of XX males lacking ZFY. In these individuals, the male phenotype could be explained by a mutation in a gene 'downstream' of ZFY in the sex-determining hierarchy; but in that case there should be no exchange of material between the X and Y chromosomes. We find on the contrary that in 4 XX males lacking ZFY, there is exchange of Y-specific sequences next to the pseudoautosomal boundary, redefining the region in which TDF must lie.
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Palmer, M., Sinclair, A., Berta, P. et al. Genetic evidence that ZFY is not the testis-determining factor. Nature 342, 937–939 (1989). https://doi.org/10.1038/342937a0
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DOI: https://doi.org/10.1038/342937a0
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