OMIA 001737-9685 : Coat colour, white spotting, KIT-related in Felis catus

In other species: dog , ass , Arabian camel

Possibly relevant human trait(s) and/or gene(s) (MIM number): 172800

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2014

Cross-species summary: Variable degree of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of skin melanocytes ("leucism"), not by failure in the biochemical reactions required for pigment synthesis.

Mapping: Cooper et al. (2006) reported that this locus maps near to KIT on FCA B1.

Molecular basis: David et al. (2014) reported the causal mutation of white spotting to be an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene.

Frischknecht et al. (2015) confirmed this causal mutation.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog Felis catus B1 NC_018726.3 (164039337..163952966) KIT Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, white spotting, KIT-related KIT insertion, gross (>20) "an insertion of an entire feline endogenous retrovirus (FERV1) into intron 1 of the KIT gene." 2014 25085922

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2015 Frischknecht, M., Jagannathan, V., Leeb, T. :
Whole genome sequencing confirms KIT insertions in a white cat. Anim Genet 46:98, 2015. Pubmed reference: 25515300. DOI: 10.1111/age.12246.
2014 David, V.A., Menotti-Raymond, M., Wallace, A.C., Roelke, M., Kehler, J., Leighty, R., Eizirik, E., Hannah, S.S., Nelson, G., Schäffer, A.A., Connelly, C.J., O'Brien, S.J., Ryugo, D.K. :
Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. G3 (Bethesda) 4:1881-91, 2014. Pubmed reference: 25085922. DOI: 10.1534/g3.114.013425.
2006 Cooper, MP., Fretwell, N., Bailey, SJ., Lyons, LA. :
White spotting in the domestic cat (Felis catus) maps near KIT on feline chromosome B1. Anim Genet 37:163-5, 2006. Pubmed reference: 16573531. DOI: 10.1111/j.1365-2052.2005.01389.x.
2000 Christensen, A.C. :
Cats as an aid to teaching genetics. Genetics 155:999-1004, 2000. Pubmed reference: 10880464.
1987 Wagner, A., Wolsan, M. :
Pelage mutant allele frequencies in domestic cat populations of Poland. J Hered 78:197-200, 1987. Pubmed reference: 3611716.
1977 Davis, BK., Davis, BP. :
Allele frequencies in a cat population in Budapest. J Hered 68:31-4, 1977. Pubmed reference: 864231.
1928 Kuhn, A, Kroning, F. :
Uber der Verebung der Weisezchung bei der Hauskatze Zuchtungskunde 3:448-454, 1928.
1919 Whiting, P.W. :
Inheritance of white spotting and other colour characteristics in cats American Naturalist 53:473-482, 1919.
1884 Bell, A.G. :
Deafness in white cats, and statistics of deafness and epilepsy in America. Science 3:243-4, 1884. Pubmed reference: 17808809. DOI: 10.1126/science.ns-3.56.243-a.
1883 Tait, L. :
Notes on Deafness in White Cats Nature 29:164 only, 1883. DOI: 10.1038/029164a0.
1873 Tait, L. :
Note on a Polydactylous Cat from Cookham-Dean. Nature 7:323 only, 1873. DOI: 10.1038/007323b0 .

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  • Created by Frank Nicholas on 14 Mar 2017