TY - JOUR
T1 - An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs
AU - Parker, Heidi G.
AU - VonHoldt, Bridgett M.
AU - Quignon, Pascale
AU - Margulies, Elliott H.
AU - Shao, Stephanie
AU - Mosher, Dana S.
AU - Spady, Tyrone C.
AU - Elkahloun, Abdel
AU - Cargill, Michele
AU - Jones, Paul G.
AU - Maslen, Cheryl L.
AU - Acland, Gregory M.
AU - Sutter, Nathan B.
AU - Kuroki, Keiichi
AU - Bustamante, Carlos D.
AU - Wayne, Robert K.
AU - Ostrander, Elaine A.
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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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U2 - 10.1126/science.1173275
DO - 10.1126/science.1173275
M3 - Article
C2 - 19608863
AN - SCOPUS:69249097407
SN - 0036-8075
VL - 325
SP - 995
EP - 998
JO - Science
JF - Science
IS - 5943
ER -