GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00002229
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
WT camels
Trait State in Taxon B
Camels with white-spotting
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
Arabian camel
Synonyms
Arabian camel; camel; dromedaries; dromedary; dromedary camel; one-humped camel; Camelus dromedarius Linnaeus, 1758
Rank
species
Lineage
Show more ... athostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Tylopoda; Camelidae; Camelus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
Arabian camel
Synonyms
Arabian camel; camel; dromedaries; dromedary; dromedary camel; one-humped camel; Camelus dromedarius Linnaeus, 1758
Rank
species
Lineage
Show more ... athostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Tylopoda; Camelidae; Camelus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Kit
Synonyms
W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3; Sl
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
c.1842delG p.M614IfsX5
Experimental Evidence
Authors
Holl H; Isaza R; Mohamoud Y; Ahmed A; Almathen F; Youcef C; Gaouar S; Antczak DF; et al. ... show more
Abstract
While the typical Arabian camel is characterized by a single colored coat, there are rare populations with white spotting patterns. White spotting coat patterns are found in virtually all domesticated species, but are rare in wild species. Theories suggest that white spotting is linked to the domestication process, and is occasionally associated with health disorders. Though mutations have been found in a diverse array of species, fewer than 30 genes have been associated with spotting patterns, thus providing a key set of candidate genes for the Arabian camel. We obtained 26 spotted camels and 24 solid controls for candidate gene analysis. One spotted and eight solid camels were whole genome sequenced as part of a separate project. The spotted camel was heterozygous for a frameshift deletion in KIT (c.1842delG, named KITW1 for White spotting 1), whereas all other camels were wild-type (KIT+/KIT+). No additional mutations unique to the spotted camel were detected in the EDNRB, EDN3, SOX10, KITLG, PDGFRA, MITF, and PAX3 candidate white spotting genes. Sanger sequencing of the study population identified an additional five kITW1/KIT+ spotted camels. The frameshift results in a premature stop codon five amino acids downstream, thus terminating KIT at the tyrosine kinase domain. An additional 13 spotted camels tested KIT+/KIT+, but due to phenotypic differences when compared to the KITW1/KIT+ camels, they likely represent an independent mutation. Our study suggests that there are at least two causes of white spotting in the Arabian camel, the newly described KITW1 allele and an uncharacterized mutation.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@HeterozygoteAdvantage ; https://omia.org/OMIA001737/9838/
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