Cited by 342Human-Animal Interaction StudiesGenetic and phenotypic traits in livestockChromosomal and Genetic Variations

An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs

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Parker, Heidi G., VonHoldt, Bridgett M., Quignon, Pascale, Margulies, Elliott H., Shao, Stephanie, Mosher, Dana S., Spady, Tyrone C., Elkahloun, Abdel +9 more·2009·Science

Abstract

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 are due to a retrogene encoding FGF4, inserted and evidently controlled by cis-regulatory elements carried in non-LTR transposons.

    “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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Research works printed but not linked: 2

  1. [10]American Kennel Club Official Publication of the American Kennel Club The Complete Dog Book 1998 ed. 19th Edition Revised New York, NY Howell Book House 790
  2. [25]Germonpre M Journal of Archaeological Science 2009 Feb 36 473

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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.
Venue
Science
Published
2009-08-21
Volume
325
Issue
5943
Pages
995-998
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
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
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 › Biochemistry, Genetics and Molecular Biology › Genetics › Human-Animal Interaction Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
  • Life Sciences › Agricultural and Biological Sciences › Plant Science › 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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