Genetic evidence that ZFY is not the testis-determining factor

M. S. Palmer, A. H. Sinclair, P. Berta, N. A. Ellis, P. N. Goodfellow, N. E. Abbas, M. Fellous

Research output: Contribution to journalArticlepeer-review

249 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)937-939
Number of pages3
Issue number6252
StatePublished - 1989

ASJC Scopus subject areas

  • General


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