Ontology highlight
ABSTRACT:
SUBMITTER: Laukner A
PROVIDER: S-EPMC8304396 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Laukner Anna A Truchet Laura L Manukjan Georgi G Schulze Harald H Langbein-Detsch Ines I Mueller Elisabeth E Leeb Tosso T Kehl Alexandra A
Genes 20210719 7
A nonsense variant in <i>HPS3</i>, c.2420G>A or p.Trp807*, was recently discovered as the cause for a brown coat color termed cocoa in French Bulldogs. Here, we studied the genotype-phenotype correlation regarding coat color in <i>HPS3</i> mutant dogs that carried various combinations of mutant alleles at other coat color genes. Different combinations of <i>HPS3, MLPH</i> and <i>TYRP1</i> genotypes resulted in subtly different shades of brown coat colors. As <i>HPS3</i> variants in humans cause ...[more]