Evidence map›Paper›PMID 19608863›Full record

ArticleScience (New York, N.Y.)2009

An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.

Heidi G Parker, Bridgett M VonHoldt, Pascale Quignon, Elliott H Margulies, Stephanie Shao, Dana S Mosher, Tyrone C Spady, Abdel Elkahloun, Michele Cargill, Paul G Jones and 7 more

Open access · greenAbstract read
In one paragraph

Article in Science (New York, N.Y.), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 195 papers.

0numbers the graph read from it
0cells of the map it votes in
195citing papers in PubMed
11.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

195 citing papers in PubMed, 359 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Genetic testing predicts appearance but not behavior in dogs.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Absence ofVeterinary sciences · 2025
    Article
  15. Genotypic and phenotypic consequences of domestication in dogs.bioRxiv : the preprint server for biology · 2025
    Article
  16. Article
  17. Article
  18. Article
  19. Genetic Testing: practical dos and don'ts for cats.Journal of feline medicine and surgery · 2024
    Review
  20. Article

135 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 7 institutions in 1 country.

Heidi G ParkerCancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Bridgett M VonHoldt
Pascale Quignon
Elliott H Margulies
Stephanie Shao
Dana S Mosher
Tyrone C Spady
Abdel Elkahloun
Michele Cargill
Paul G Jones
Cheryl L Maslen
Gregory M Acland
Nathan B Sutter
Keiichi Kuroki
Carlos D Bustamante
Robert K Wayne
Elaine A Ostrander
National Institutes of Health · USCornell University · USCancer Genetics (United States) · USNational Human Genome Research Institute · USUniversity of California, Los Angeles · USColumbia Orthopaedic Group · USOregon Health & Science University · US

Funding

MODELS OF HEREDITY RETINAL DEGENERATIONR01EY006855 · NEI · UNIVERSITY OF PENNSYLVANIA · PI GUSTAVO David AGUIRRE, William A. Beltran · 1992 to 2026
$20.7M
Finding Genes for Human Prostate CancerZIAHG200325 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI OSTRANDER, ELAINE · 2009 to 2021
$17.7M
NHGRI/DIR Microarray CoreZICHG200365 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ELKAHLOUN, ABDEL · 2011 to 2025
$9.0M
Training Grant in Genomic Analysis and InterpretationT32HG002536 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Valerie A Arboleda, Harold Pimentel · 2002 to 2026
$8.6M
Identifying and Characterizing Functional Elements in the Human GenomeZIAHG200341 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI MARGULIES, ELLIOTT · 2009 to 2011
$2.8M
Tools for Genetic and Genomic Studies in the DogR24GM082910 · NIGMS · CORNELL UNIVERSITY · PI ACLAND, GREGORY M · 2008 to 2011
$1.5M
Association Mapping in Structured PopulationsR01GM083606 · NIGMS · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL · 2007 to 2010
$1.3M
Intramural NIH HHS Z99 HG999999NEI NIH HHS 5R01EY006855NEI NIH HHS R01 EY006855NHGRI NIH HHS T32 HG002536NIGMS NIH HHS 1R01GM83606NIGMS NIH HHS 1R24GM082910
6 · The paper itself

Abstract

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.

Indexed as

Gene DuplicationGene Expression RegulationAnimalsBreedingChondrocytesDogsEvolution, MolecularExtremitiesFibroblast Growth Factor 4Gene FrequencyGenes, DuplicateGenome-Wide Association StudyHaplotypesHumerusLong Interspersed Nucleotide ElementsOligonucleotide Array Sequence AnalysisFibroblast Growth Factor 4Retroelements

Identifiers

PMID19608863
PMCPMC2748762
OpenAlexW1981244256

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.