GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000309
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Canis familiaris - various breeds
Trait State in Taxon B
Canis familiaris - various breeds
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
gray wolf
Synonyms
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
Rank
subspecies
Lineage
Show more ... tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis; Canis lupus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Basset Hound ; Cairn Terrier ; Cardigan Welsh Corgi ; Dachshund; Dandie Dinmont Terrier ; Lancashire heeler; Norwich Terrier ; Pekingese ; Pembroke Welsh Corgi ; Petit Basset ; Griffon Vendéen ; Shih-Tzu ; Skye Terrier ; Swedish Vallhund ; Tibetan spaniel ; West Highland Terrier
GENOTYPIC CHANGE
Presumptive Null
Molecular Type
Aberration Type
Insertion Size
10-100 kb
Molecular Details of the Mutation
Gene retroposition : 5kb insertion containing a FGF4 retrogene; 25Mb away from the complete (original) FGF4 gene
Experimental Evidence
Authors
Parker HG; VonHoldt BM; Quignon P; Margulies EH; Shao S; Mosher DS; Spady TC; Elkahloun A; et al. ... show more
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.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
https://omia.org/OMIA000187/9615/
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