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The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome

Nature Genetics volume 22, pages 223–224 (1999)Cite this article

The genes on the human Y chromosome have been suggested to fall into two classes with distinct evolutionary origins1. Widely expressed, single-copy genes with X homologues that escape inactivation (X-Y shared genes) derive from the ancient proto X-Y chromosome pair. Testis-specific, multicopy genes with no X homologues originate from autosomes and accumulated on a 'selfish Y' because of their male-specific function.

Such a testis-specific gene is the multicopy human RBMY (for RNA-binding motif gene, Y chromosome, formerly RBM and YRRM; refs 2, 3, 4) gene family, copies of which are candidate spermatogenesis genes because they are found in all three azoospermia factor (AZF) deletion intervals on the human Yq, which are associated with oligospermia or azoospermia5. RBMY genes lie on the Y chromosome in marsupials as well as eutherian ('placental') mammals6. RBMY genes were reported to have no X homologue in any of 21 eutherian species2,7, the most closely related gene being the autosomal HNRPG (formerly hnRNPG). Human HNRPG, known only as a cDNA, has approximately 60% homology to RBMY, and was mapped by radioactive in situ hybridization to human chromosome 6p12 (Refs 8,9). The prevailing hypothesis is that the RBMY family arose by retrotransposition of an unprocessed HNRPG primary transcript to the Y in a mammalian ancestor4,6.

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Figure 1: FISH localization of the cloned RBMY-like sequence from Xq26.
Figure 2: Comparison of the genomic structure of RBMY-like sequences on human chromosomes 6 and X.

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Acknowledgements

We thank S. Mumm for YAC clones; I. Barbieri for cell culture; S. Thomas for the FISH studies; and C. Schwartz for bringing to our attention the potential association with BFLS. This work was supported in part by grants to J.A.M.G. from the Australian Research Council and the Australian National Health and Medical Research Council, and grant GM 46883 to C.M.D. from the US National Institutes of Health.

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  1. Department of Genetics, La Trobe University, Melbourne, 3083, Victoria, Australia

    Margaret L. Delbridge & Jennifer A. Marshall Graves

  2. Department of Pathology, University of Washington, Seattle, Washington, USA

    Patricia A. Lingenfelter & Christine M. Disteche

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Correspondence to Margaret L. Delbridge.

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Delbridge, M., Lingenfelter, P., Disteche, C. et al. The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome. Nat Genet 22, 223–224 (1999). https://doi.org/10.1038/10279

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