TY - JOUR

T1 - Identification of a candidate genetic variant for the Himalayan color pattern in dogs

AU - Bychkova, Elina

AU - Viktorovskaya, Olga

AU - Filippova, Elizaveta

AU - Eliseeva, Zhanna

AU - Barabanova, Larisa

AU - Sotskaya, Maria

AU - Markov, Anton

N1 - Funding Information: We are grateful to the dog owners who kindly agreed to share their dog's DNA for the study. In particular, we thank Bohdana Novakova, the owner of the proband (the Standard Shorthaired Dachshund named Matishek), who kindly provided genetic material from her dog for the analysis, shared some photographs, and allowed examination of the phenotype. We are also grateful to Olga Raudis whose enthusiasm and efforts in connecting breeders and scientists made this study possible. Publisher Copyright: © 2020 Elsevier B.V. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2021/2/15

Y1 - 2021/2/15

N2 - Acromelanism is a temperature-dependent hypopigmentation pattern commonly manifested as the Himalayan coat color found in rabbits, rats, mice, minks, and gerbils, wherein the extreme “points” are dark and the torso is pale. It is known as the Siamese pattern in cats. Himalayan color is genetically determined by the allelic variant ch of the locus C, later identified as the tyrosinase gene TYR. The tyrosinase functions at the initial steps of melanin production, and alteration of its activity by sequence changes results in pigmentation defects in vertebrates. The presence of acromelanism in dogs has not been described until now. We analyzed a DNA sample of a dachshund with a unique coat color resembling the Himalayan type. Sequencing of the coding part of the TYR gene from the proband revealed a homozygous variant (c.230G > A) in exon 1, leading to an amino acid substitution (p.R77Q) in a conserved region of the protein. The proband's mother, which is black-and-tan, is a heterozygous carrier of the c.230A allele, while none of the 210 dogs of different breeds, unrelated to the proband, carried the c.230A allele. These results suggest that the identified sequence variant is likely the cause of the Himalayan coloration of the proband.

AB - Acromelanism is a temperature-dependent hypopigmentation pattern commonly manifested as the Himalayan coat color found in rabbits, rats, mice, minks, and gerbils, wherein the extreme “points” are dark and the torso is pale. It is known as the Siamese pattern in cats. Himalayan color is genetically determined by the allelic variant ch of the locus C, later identified as the tyrosinase gene TYR. The tyrosinase functions at the initial steps of melanin production, and alteration of its activity by sequence changes results in pigmentation defects in vertebrates. The presence of acromelanism in dogs has not been described until now. We analyzed a DNA sample of a dachshund with a unique coat color resembling the Himalayan type. Sequencing of the coding part of the TYR gene from the proband revealed a homozygous variant (c.230G > A) in exon 1, leading to an amino acid substitution (p.R77Q) in a conserved region of the protein. The proband's mother, which is black-and-tan, is a heterozygous carrier of the c.230A allele, while none of the 210 dogs of different breeds, unrelated to the proband, carried the c.230A allele. These results suggest that the identified sequence variant is likely the cause of the Himalayan coloration of the proband.

KW - АкромеланизмАльбинизмЦвет шерстиДомашняя собакаСиамскийТирозиназа

KW - Acromelanism

KW - Albinism

KW - Coat color

KW - Domestic dog

KW - Siamese

KW - Tyrosinase

KW - I OCULOCUTANEOUS ALBINISM

KW - TYROSINASE GENE

KW - MISSENSE MUTATION

KW - MOLECULAR-BASIS

KW - TYPE-1 OCA1

KW - COAT COLOR

KW - SIAMESE

KW - MODEL

KW - CAT

KW - PIGMENTATION

UR - http://www.scopus.com/inward/record.url?scp=85092625354&partnerID=8YFLogxK

U2 - 10.1016/j.gene.2020.145212

DO - 10.1016/j.gene.2020.145212

M3 - Article

AN - SCOPUS:85092625354

VL - 769

JO - Gene

JF - Gene

SN - 0378-1119

M1 - 145212

ER -