TY - JOUR

T1 - Identification of mutant gene for Black crystal coat and non-allelic gene interactions in Neogale vison

AU - Manakhov, Andrey D.

AU - Mintseva, Maria Yu

AU - Uralsky, Lev I.

AU - Andreeva, Tatiana V.

AU - Trapezov, Oleg V.

AU - Rogaev, Evgeny I.

N1 - Funding Information: The study was supported by Sirius University of Science and Technology (A.D.M. and L.I.U., genomic data analysis) and the Institute of Cytology and Genetics SB RAS Project No. 0259-2021-0015 (O.V.T., collection of the mink breeds). Publisher Copyright: © 2022, The Author(s).

PY - 2022/12

Y1 - 2022/12

N2 - Sable (Martes zibellina) and American mink (Neogale vison) are valuable species characterized by a variety of coat colour produced on fur farms. Black crystal fur phenotype is Mendelian codominant trait: heterozygous animals (Cr/ +) have white guard hairs scattered predominantly on the spine and the head, while homozygous (Cr/Cr) minks have coats resembling the Himalayan (ch/ch) or white Hedlund (h/h) types. It is one of the most recent of more than 35 currently known phenotypic traits of fur colour in American mink. Black crystal fur phenotype was first described in 1984 in the Russian population of mink, which had undergone selection for domestic defensive response to humans. Here, we performed whole-genome sequencing of American mink with Cr/Cr phenotype. We identified a missense mutation in the gene encoding the α-COP subunit of the COPI complex (COPA). The COPI complex mediates retrograde trafficking from the Golgi system to the endoplasmic reticulum and sorting of transmembrane proteins. We observed an interaction between a newly identified mutation in the COPA gene and a mutation in the microphthalmia-associated transcription factor (MITF), the latter mutation led to the formation of the white Hedlund (h/h) phenotype. Double heterozygotes for these mutations have an entirely white coat and a black-eyed phenotype similar to the phenotype of Cr/Cr or h/h minks. Our data could be useful for tracking economically valuable fur traits in mink breeding programs to contribute to global fur production.

AB - Sable (Martes zibellina) and American mink (Neogale vison) are valuable species characterized by a variety of coat colour produced on fur farms. Black crystal fur phenotype is Mendelian codominant trait: heterozygous animals (Cr/ +) have white guard hairs scattered predominantly on the spine and the head, while homozygous (Cr/Cr) minks have coats resembling the Himalayan (ch/ch) or white Hedlund (h/h) types. It is one of the most recent of more than 35 currently known phenotypic traits of fur colour in American mink. Black crystal fur phenotype was first described in 1984 in the Russian population of mink, which had undergone selection for domestic defensive response to humans. Here, we performed whole-genome sequencing of American mink with Cr/Cr phenotype. We identified a missense mutation in the gene encoding the α-COP subunit of the COPI complex (COPA). The COPI complex mediates retrograde trafficking from the Golgi system to the endoplasmic reticulum and sorting of transmembrane proteins. We observed an interaction between a newly identified mutation in the COPA gene and a mutation in the microphthalmia-associated transcription factor (MITF), the latter mutation led to the formation of the white Hedlund (h/h) phenotype. Double heterozygotes for these mutations have an entirely white coat and a black-eyed phenotype similar to the phenotype of Cr/Cr or h/h minks. Our data could be useful for tracking economically valuable fur traits in mink breeding programs to contribute to global fur production.

KW - Animals

KW - Coat Protein Complex I/genetics

KW - Epistasis, Genetic

KW - Hair Color/genetics

KW - Mink/genetics

KW - Mustelidae/genetics

KW - Phenotype

UR - http://www.scopus.com/inward/record.url?scp=85132247716&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/446ff4b3-207d-37ed-bc04-53255f847ea1/

U2 - 10.1038/s41598-022-14079-z

DO - 10.1038/s41598-022-14079-z

M3 - Article

C2 - 35729186

AN - SCOPUS:85132247716

VL - 12

JO - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

IS - 1

M1 - 10483

ER -