The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs
Open accessAbstract
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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Cites
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Genetic Structure of the Purebred Domestic Dog
Parker, H. G., Kim, L. V., Sutter, N. B., Carlson, S., Lorentzen, T. D., Malek, T. B., Johnson, G. S., DeFrance, H. B., Ostrander, E. A., & Kruglyak, L. (2004) · Science · doi:10.1126/science.1097406 · Cited by 753
Self-citationProperties of statistical tests of neutrality for DNA polymorphism data
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A Single IGF1 Allele Is a Major Determinant of Small Size in Dogs
Sutter, N. B., Bustamante, C. D., Chase, K., GRAY, M. M., Zhao, K., Zhu, L., Padhukasahasram, B., Karlins, E., Davis, S. R., Jones, P. G., et al. (2007) · Science · doi:10.1126/science.1137045 · Cited by 673
Self-citationMolecular origins of rapid and continuous morphological evolution
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The Dog Genome: Survey Sequencing and Comparative Analysis
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Kaessmann, H. (2010) · Genome Research · doi:10.1101/gr.101386.109 · Cited by 848
Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication
vonHoldt, B. M., Pollinger, J. P., Lohmueller, K. E., Han, E., Parker, H. G., Quignon, P., Degenhardt, J. D., Boyko, A. R., Earl, D. A., Auton, A., et al. (2010) · Nature · doi:10.1038/nature08837 · Cited by 825
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Hancks, D. C., & Kazazian, H. H. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.02.006 · Cited by 592
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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