Journal
SCIENCE
Volume 325, Issue 5943, Pages 995-998Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1173275
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Funding
- NSF [0733033, 516310]
- NIH [5R01EY006855, 1R24GM082910, 1R01GM83606]
- Emerging Frontiers
- Direct For Biological Sciences [0733033] Funding Source: National Science Foundation
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Retrotransposition of processed mRNAs is a common source of novel sequence acquired during the evolution of genomes. Although the vast majority of retroposed gene copies, or retrogenes, rapidly accumulate debilitating mutations that disrupt the reading frame, a small percentage become new genes that encode functional proteins. By using a multibreed association analysis in the domestic dog, we demonstrate that expression of a recently acquired retrogene encoding fibroblast growth factor 4 (fgf4) is strongly associated with chondrodysplasia, a short-legged phenotype that defines at least 19 dog breeds including dachshund, corgi, and basset hound. These results illustrate the important role of a single evolutionary event in constraining and directing phenotypic diversity in the domestic dog.
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