OMIA:001737-9925 : Coat colour, white spotting, KIT-related in Capra hircus (goat) |
In other species: dog , domestic cat , ass (donkey) , Arabian camel , taurine cattle , water buffalo
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 172800 (trait) , 164920 (gene)
Mendelian trait/disorder: yes
Disease-related: no
Key variant known: yes
Year key variant first reported: 2019
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, leucistic"), not by failure in the biochemical reactions required for pigment synthesis.
Molecular basis: Henkel et al. (2019) reported two "CNVs were located in the 3’-flanking region of KIT and associated with a completely white coat color phenotype in Pak Angora goats [see OMIA 000209-9925] and a white-spotted coat color phenotype in Barbari goats [this OMIA entry], respectively".
Breeds:
Barbari (Goat) (VBO_0000728),
Pak Angora, Pakistan (Goat) (VBO_0009787).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Capra hircus | 6 | NC_030813.1 (70711232..70793908) | 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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1201 | Bezoar (Goat) | Wild type or Bezoar | KIT | reference sequence allele | Naturally occurring variant | ARS1.2 | 6 | "The coverage plot of bezoars (BEZ) does not show any copy number variation and represents the wildtype allele." (Henkel et al., 2019) | 2019 | 31841508 | ||||||
| 1187 | Barbari (Goat) | White-spotted | KIT | KIT^BAR | repeat variation | Naturally occurring variant | ARS1.2 | 6 | The CNV "started ~63 kb downstream of KIT and covered ~100 kb of the genome reference sequence without known coding DNA. The short read-aligments of read-pairs spanning the amplification breakpoints confirmed that the individual copies of the CNV were arranged in tandem in a head to tail orientation" (Henkel et al., 2019) "70'911'301-70'927'581: deleted; 89'210'545-89'233'246: 3 copies of which 2 are inserted at 70'911'302" (Table S5; Henkel et al., 2019); previously listed in htis table as :g.70859258_70959918 (2 copies) | 2019 | 31841508 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:001737-9925: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2019 | Henkel, J., Saif, R., Jagannathan, V., Schmocker, C., Zeindler, F., Bangerter, E., Herren, U., Posantzis, D., Bulut, Z., Ammann, P., Drögemüller, C., Flury, C., Leeb, T. : |
| Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes. PLoS Genet 15:e1008536, 2019. Pubmed reference: 31841508. DOI: 10.1371/journal.pgen.1008536. |
Edit History
- Created by Frank Nicholas on 09 Apr 2020
- Changed by Frank Nicholas on 09 Apr 2020
- Changed by Frank Nicholas on 17 May 2020