Publication Date:
2009-07-18
Description:
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.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2748762/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2748762/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Parker, Heidi G -- VonHoldt, Bridgett M -- Quignon, Pascale -- Margulies, Elliott H -- Shao, Stephanie -- Mosher, Dana S -- Spady, Tyrone C -- Elkahloun, Abdel -- Cargill, Michele -- Jones, Paul G -- Maslen, Cheryl L -- Acland, Gregory M -- Sutter, Nathan B -- Kuroki, Keiichi -- Bustamante, Carlos D -- Wayne, Robert K -- Ostrander, Elaine A -- 1R01GM83606/GM/NIGMS NIH HHS/ -- 1R24GM082910/GM/NIGMS NIH HHS/ -- 5R01EY006855/EY/NEI NIH HHS/ -- R01 EY006855/EY/NEI NIH HHS/ -- R01 EY006855-25/EY/NEI NIH HHS/ -- Z99 HG999999/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2009 Aug 21;325(5943):995-8. doi: 10.1126/science.1173275. Epub 2009 Jul 16.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/19608863" target="_blank"〉PubMed〈/a〉
Keywords:
Animals
;
Breeding
;
Chondrocytes/metabolism
;
Dogs/anatomy & histology/*genetics
;
Evolution, Molecular
;
Extremities/*anatomy & histology
;
Fibroblast Growth Factor 4/*genetics
;
*Gene Duplication
;
*Gene Expression Regulation
;
Gene Frequency
;
Genes, Duplicate
;
Genome-Wide Association Study
;
Haplotypes
;
Humerus/metabolism
;
Long Interspersed Nucleotide Elements
;
Oligonucleotide Array Sequence Analysis
;
Pedigree
;
Phenotype
;
Polymorphism, Single Nucleotide
;
Regulatory Sequences, Nucleic Acid
;
Retroelements/*genetics
;
Selection, Genetic
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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