| http://purl.uniprot.org/citations/32065668 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32065668 | http://www.w3.org/2000/01/rdf-schema#comment | "White-spotting coat colour phenotypes in cattle are either fixed characteristics of specific cattle breeds or occur sporadically owing to germline genetic variation of solid-coloured parents. A Brown Swiss cow showing a piebald pattern resembling colour-sidedness was referred for genetic evaluation. Both parents were normal solid-brown-coloured cattle. The cow was tested negative for the three known DNA variants in KIT, MITF and TWIST2 associated with different depigmentation phenotypes in Brown Swiss cattle. Whole-genome sequencing of the cow was performed and a heterozygous variant affecting the coding sequence of the bovine KIT gene was identified on chromosome 6. The variant is a 40 bp deletion in exon 9, NM_001166484.1:c.1390_1429del, and leads to a frameshift that is predicted to produce a novel 50 amino acid-long C-terminus replacing almost 50% of the wt KIT protein, including the functionally important intracellular tyrosine kinase domain (NP_001159956.1:p.(Asn464AlafsTer50)). Interestingly, among three available offspring, two solid-coloured daughters were genotyped as homozygous wt whereas a single son showing a slightly milder but still obvious depigmentation phenotype inherited a copy of the novel variant allele. The genetic findings provide strong evidence that the identified loss-of-function KIT variant most likely represents a de novo germline mutation that is causative owing to haploinsufficiency."xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.org/dc/terms/identifier | "doi:10.1111/age.12920"xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/author | "Drogemuller C."xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/author | "Hafliger I.M."xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/author | "Hirter N."xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/author | "Paris J.M."xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/author | "Seefried F.R."xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/author | "Wolf Hofstetter S."xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/name | "Anim Genet"xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/pages | "449-452"xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/title | "A de novo germline mutation of KIT in a white-spotted Brown Swiss cow."xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://purl.uniprot.org/core/volume | "51"xsd:string |
| http://purl.uniprot.org/citations/32065668 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32065668 |
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