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An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs
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Going Retro: 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. (p. 995 , published online 16 July; 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.
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“short legs in dog breeds such as dachshunds and basset hounds is due to a retrogene encoding FGF4, inserted and evidently controlled by cis-regulatory elements carried in non-LTR transposons (Parker et al., 2009).”
From Evolution of Gene Regulatory Networks Controlling Body Plan Development (2011) · cites this paper as Parker et al., 2009
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Metadata
- Authors
- Parker, H. G., VonHoldt, B. M., Quignon, P., Margulies, E. H., Shao, S., Mosher, D. S., Spady, T. C., Elkahloun, A., Cargill, M., Jones, P. G., Maslen, C. L., Acland, G. M., Sutter, N. B., Kuroki, K., Bustamante, C. D., Wayne, R. K., & Ostrander, E. A.
- Affiliations
- National Institutes of Health (US)
- University of California, Los Angeles (US)
- Affymetrix (United States) (US)
- Waltham Centre for Pet Nutrition (GB)
- Oregon Health & Science University (US)
- Cornell University (US)
- University of Missouri (US)
- Corresponding author
- Cargill, Michele
- Ostrander, Elaine A.
- ORCID
- Venue
- Science
- Published
- 2009-08-21
- Volume
- 325
- Issue
- 5943
- Pages
- 995-998
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC2748762
- OpenAlex
- W1981244256
- Cited by
- 342
- References
- 36
- Citations by year
- 2026: 10 · 2025: 12 · 2024: 28 · 2023: 17 · 2022: 18 · 2021: 20 · 2020: 22 · 2019: 20 · 2018: 19 · 2017: 13 · 2016: 25 · 2015: 15 · 2014: 14 · 2013: 22 · 2012: 28
- FWCI
- 16.87
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (Z99 HG999999)
- National Human Genome Research Institute (T32HG002536)
- National Eye Institute (R01EY006855)
- National Institute of General Medical Sciences (R01GM083606, 1R01GM83606, R24GM082910)
- Topics
- Life Sciences › Agricultural and Biological Sciences › Animal Science and Zoology › Human-Animal Interaction Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Chromosomal and Genetic Variations
- Keywords
- FGF4, retrogenes, retrotransposition, chondrodysplasia, gene expression, phenotypic diversity, dog evolution
- MeSH terms
- Animals, Breeding, Dogs, Extremities, Gene Expression Regulation, Gene Frequency, Haplotypes, Humerus, Pedigree, Phenotype, Regulatory Sequences, Nucleic Acid, Selection, Genetic, Retroelements, Evolution, Molecular, Chondrocytes, Long Interspersed Nucleotide Elements, Genes, Duplicate, Oligonucleotide Array Sequence Analysis, Gene Duplication, Polymorphism, Single Nucleotide, Fibroblast Growth Factor 4, Genome-Wide Association Study
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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