GEPHE SUMMARY Print
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
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?
Taxon A Description
Canis familiaris - white boxer
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
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?
Taxon B Description
Canis familiaris - solid boxer
Generic Gene Name
Wh; bw; mi; vit; BCC2; Bhlhe32; Gsfbcc2; Vitiligo; Bw; Mi; Vit
Belongs to the MiT/TFE family.
GO - Molecular Function
GO:0046983 : protein dimerization activity ... show more
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
GO - Cellular Component
GO:0005634 : nucleus ... show more
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
Karlsson EK; Baranowska I; Wade CM; Salmon Hillbertz NH; Zody MC; Anderson N; Biagi TM; Patterson N; et al. ... show more
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.
@Parallelism https://omia.org/OMIA000214/9615/ @HeterozygoteAdvantage due to risk of deafness at the homozygous state
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