GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00000657
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Canis familiaris - white boxer
Trait State in Taxon B
Canis familiaris - solid boxer
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?
Yes
Taxon A Description
Canis familiaris - white boxer
Taxon B
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs
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
Canis familiaris - solid boxer
GENOTYPIC CHANGE
Generic Gene Name
Mitf
Synonyms
Wh; bw; mi; vit; BCC2; Bhlhe32; Gsfbcc2; Vitiligo; Bw; Mi; Vit
Sequence Similarities
Belongs to the MiT/TFE family.
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
100-999 bp
Molecular Details of the Mutation
g.21836232_21836427ins>del - this SINE-insertion variant is the first of three possible regulatory variants described by Karlsson et al. (2007). Its genomic location and description were kindly provided by Professor Claire Wade in August 2018. OMIA 000214-9615
Experimental Evidence
Authors
Karlsson EK; Baranowska I; Wade CM; Salmon Hillbertz NH; Zody MC; Anderson N; Biagi TM; Patterson N; et al. ... show more
Abstract
With several hundred genetic diseases and an advantageous genome structure, dogs are ideal for mapping genes that cause disease. Here we report the development of a genotyping array with approximately 27,000 SNPs and show that genome-wide association mapping of mendelian traits in dog breeds can be achieved with only approximately 20 dogs. Specifically, we map two traits with mendelian inheritance: the major white spotting (S) locus and the hair ridge in Rhodesian ridgebacks. For both traits, we map the loci to discrete regions of <1 Mb. Fine-mapping of the S locus in two breeds refines the localization to a region of approximately 100 kb contained within the pigmentation-related gene MITF. Complete sequencing of the white and solid haplotypes identifies candidate regulatory mutations in the melanocyte-specific promoter of MITF. Our results show that genome-wide association mapping within dog breeds, followed by fine-mapping across multiple breeds, will be highly efficient and generally applicable to trait mapping, providing insights into canine and human health.
COMMENTS
OMIA 000214-9615
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