Comparative genomics is a powerful tool for uncovering patterns of mutations within genes targeted for issues in human health. Our research approach utilizes molecular phylogenetic methods and the well-defined evolutionary relationships (based on multiple genetic markers) that unite the 37 species within the cat family Felidae as a reference phylogeny. Current research is focused on the pattern of diversity and substitution in genes located on chromosomes X and Y. The results indicate genes on the Y evolve in a highly precise manner and accurately reconstruct expected evolutionary relationships. Yet we describe an unusual form of recombination exists between X and Y, represented by one-way exon exchange (ectopic gene conversion) from Zfx to Zfy genes, that may be an adaptive mechanism for maintaining function of Y genes located outside the pseudoautosomal region. Further results identify a novel subfamily of SINEs (repetitive selfish DNA) providing the first example of homoplasy (insertion into an identical site unrelated to shared evolutionary history) that warrants additional investigation of possible functional effects of repetitive DNA in genes located in the non-recombining regions of the Y. These and other insights from comparative genomics describe molecular genetic changes taking place in genes of sex chromosomes that may be highly informative in fertility and reproduction.
| Pecon-Slattery, J; Pearks Wilkerson, A J; Murphy, W J et al. (2004) Phylogenetic assessment of introns and SINEs within the Y chromosome using the cat family felidae as a species tree. Mol Biol Evol 21:2299-309 |
