OMIA 001737-9925 : Coat colour, white spotting, KIT-related in Capra hircus

In other species: dog , domestic cat , ass , Arabian camel , cattle

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

Mendelian trait/disorder: yes

Considered a defect: 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"), 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, Pak angora.

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

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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
Bezoar Wild type or Bezoar KIT wild type (i.e. normal) ARS1 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
Barbari White-spotted KIT KIT^BAR repeat variation ARS1 6 g.70,859,258-70,959,918 (2 copies) 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) 2019 31841508

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