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Prdm9  ( Meisetz)  is the first speciation gene discovered in vertebrates conferring reproductive isolation. This locus encodes a meiosis-specific histone H3 methyltransferase that specifies meiotic recombination hotspots during gametogenesis. Allelic differences in  Prdm9 , characterized for a variable number of zinc finger (ZF) domains, have been associated with hybrid sterility in male house mice via spermatogenic failure at the pachytene stage. The mule, a classic example of hybrid sterility in mammals also exhibits a similar spermatogenesis breakdown, making  Prdm9  an interesting candidate to evaluate in equine hybrids. In this study, we characterized the  Prdm9  gene in all species of equids by analyzing sequence variation of the ZF domains and estimating positive selection. We also evaluated the role of  Prdm9  in hybrid sterility by assessing allelic differences of ZF domains in equine hybrids. We found remarkable variation in the sequence and number of ZF domains among equid species, ranging from five domains in the Tibetan kiang and Asiatic wild ass, to 14 in the Grevy’s zebra. Positive selection was detected in all species at amino acid sites known to be associated with DNA-binding specificity of ZF domains in mice and humans. Equine hybrids, in particular a quartet pedigree composed of a fertile mule showed a mosaic of sequences and number of ZF domains suggesting that  Prdm9  variation does not seem by itself to contribute to equine hybrid sterility.

Characterization of Prdm9 in Equids and Sterility in Mules