Going Retro

Science Signaling  25 Aug 2009:
Vol. 2, Issue 85, pp. ec287
DOI: 10.1126/scisignal.285ec287

In a year celebrating Darwin, the question of how new functional genes arise during evolution is of particular interest. Through a multibreed genetic analysis of the domestic dog, Parker et al. (see the Perspective by Kaessmann) find that the short-legged phenotype that characterizes at least 19 common dog breeds, including the corgi, dachshund, and basset hound, is specifically associated with the expression in developing bone of a gene encoding fibroblast growth factor 4 (fgf4), a member of a gene family previously implicated in dwarfism in humans. Interestingly, the culprit fgf4 gene in dogs has the hallmarks of a “retrogene,” a gene that arises when a parental gene is duplicated through an RNA-based copying mechanism.

H. G. Parker, B. M. VonHoldt, P. Quignon, E. H. Margulies, S. Shao, D. S. Mosher, T. C. Spady, A. Elkahloun, M. Cargill, P. G. Jones, C. L. Maslen, G. M. Acland, N. B. Sutter, K. Kuroki, C. D. Bustamante, R. K. Wayne, E. A. Ostrander, An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 325, 995–998 (2009). [Abstract] [Full Text]

H. Kaessmann, More than just a copy. Science 325, 958–959 (2009). [Summary] [Full Text]