Genomic Analysis of Fur Color of Sable (Martes zibellina L.), Search for Mutations that Determine the Absence of Pigmentation – Albino

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Abstract

In the domesticated sable population, after almost 100 years of selection, individuals with colored fur began to be recorded, so, in the offspring of a pair of sables with black fur, a pastel-colored puppy was born. A single-nucleotide insertion was identified in the TYRP1 gene, which determines this sable fur color; the type of inheritance is recessive. In 2022, in this population, representatives of two sable lines gave birth to puppies with white fur at the same time. In most mammalian species, albinism is caused by mutations in the TYR gene, which encodes the enzyme tyrosinase. In the present study, the sable TYR gene was investigated as a functional candidate gene for albinism. Analysis of the nucleotide sequences coding for the TYR gene region and splicing sites did not reveal differences in white sables from standard- colored sables, suggesting that the phenotype under study is due to genetic variants in other genes.

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About the authors

P. A. Filimonov

Vavilov Institute of General Genetics, Russian Academy of Sciences

Email: snkashtanov@mail.ru
Russian Federation, Moscow, 119991

A. D. Manakhov

Vavilov Institute of General Genetics, Russian Academy of Sciences; Center for Genetics and Life Science, Sirius University of Science and Technology; Center for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University

Email: snkashtanov@mail.ru
Russian Federation, Moscow, 119991; Sochi, 354340; Moscow, 119192

M. I. Mitina

Center for Genetics and Life Science, Sirius University of Science and Technology

Email: snkashtanov@mail.ru
Russian Federation, Sochi, 354340

A. A. Onokhov

Vavilov Institute of General Genetics, Russian Academy of Sciences

Email: snkashtanov@mail.ru
Russian Federation, Moscow, 119991

I. Е. Chernova

AO «Russian Sable» Moscow oblast, Pregion

Email: snkashtanov@mail.ru
Russian Federation, pos. Zverosovkhoz, 141214

L. V. Maksimova

AO «Russian Sable» Moscow oblast, Pregion

Email: snkashtanov@mail.ru
Russian Federation, pos. Zverosovkhoz, 141214

S. N. Kashtanov

Vavilov Institute of General Genetics, Russian Academy of Sciences

Author for correspondence.
Email: snkashtanov@mail.ru
Russian Federation, Moscow, 119991

E. I. Rogaev

Center for Genetics and Life Science, Sirius University of Science and Technology; Center for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University; Department of Psychiatry, University of Massachusetts Medical School

Email: snkashtanov@mail.ru
Russian Federation, Sochi, 354340; Moscow, 119192; Worcester, MA 01604, USA

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Supplementary files

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2. Fig. 1. An albino sable puppy (collection number 9706) was born at the Pushkinsky fur farm from a pair of pastel sables.

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3. Fig. 2. Pedigree of albino sables, the result of crossing two lines, the founder is male 15331 (factory number). The sign "K" marks individuals brought from the Kamchatka Peninsula. Arrows mark individuals included in the study.

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4. Appendix 1

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