A gene catalogue of the euchromatic male-specific region of the horse Y chromosome: comparison with human and other mammals. Academic Article uri icon


  • Studies of the Y chromosome in primates, rodents and carnivores provide compelling evidence that the male specific region of Y (MSY) contains functional genes, many of which have specialized roles in spermatogenesis and male-fertility. Little similarity, however, has been found between the gene content and sequence of MSY in different species. This hinders the discovery of species-specific male fertility genes and limits our understanding about MSY evolution in mammals. Here, a detailed MSY gene catalogue was developed for the horse--an odd-toed ungulate. Using direct cDNA selection from horse testis, and sequence analysis of Y-specific BAC clones, 37 horse MSY genes/transcripts were identified. The genes were mapped to the MSY BAC contig map, characterized for copy number, analyzed for transcriptional profiles by RT-PCR, examined for the presence of ORFs, and compared to other mammalian orthologs. We demonstrate that the horse MSY harbors 20 X-degenerate genes with known orthologs in other eutherian species. The remaining 17 genes are acquired or novel and have so far been identified only in the horse or donkey Y chromosomes. Notably, 3 transcripts were found in the heterochromatic part of the Y. We show that despite substantial differences between the sequence, gene content and organization of horse and other mammalian Y chromosomes, the functions of MSY genes are predominantly related to testis and spermatogenesis. Altogether, 10 multicopy genes with testis-specific expression were identified in the horse MSY, and considered likely candidate genes for stallion fertility. The findings establish an important foundation for the study of Y-linked genetic factors governing fertility in stallions, and improve our knowledge about the evolutionary processes that have shaped Y chromosomes in different mammalian lineages.

published proceedings

  • PLoS One

author list (cited authors)

  • Paria, N., Raudsepp, T., Pearks Wilkerson, A. J., O'Brien, P., Ferguson-Smith, M. A., Love, C. C., ... Chowdhary, B. P.

citation count

  • 51

complete list of authors

  • Paria, Nandina||Raudsepp, Terje||Pearks Wilkerson, Alison J||O'Brien, Patricia CM||Ferguson-Smith, Malcom A||Love, Charles C||Arnold, Carolyn||Rakestraw, Peter||Murphy, William J||Chowdhary, Bhanu P

editor list (cited editors)

  • Orban, L.

publication date

  • January 2011