Genomic analysis links the American mink Royal pastel coat phenotype to retroviral element type 1 insertion in the HPS3 gene.

Autor: Manakhov AD; Department of Genetics, Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Center for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia., Aarakelyan NA; Department of Genetics, Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia., Lapteacru AV; Department of Genetics, Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia., Andreeva TV; Department of Genetics, Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.; Laboratory of Evolutionary Genomics, Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.; Center for Genetics and Genetic Technologies, Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia., Trapezov OV; Department of Animals and Human Genetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.; Novosibirsk State University, Novosibirsk, Russia., Rogaev EI; Department of Genetics, Centre for Genetics and Life Science, Sirius University of Science and Technology, Sochi, Russia.; Department of Psychiatry, UMass Chan Medical School, Worcester, Massachusetts, USA.
Jazyk: angličtina
Zdroj: Animal genetics [Anim Genet] 2024 Oct; Vol. 55 (5), pp. 788-792. Date of Electronic Publication: 2024 Jul 02.
DOI: 10.1111/age.13461
Abstrakt: To date, only 10 of the more than 30 fur colours that had been observed in American mink (Neogale vison) have been linked to specific genes. The Royal pastel fur colour is part of a large family of brownish colours that are quite similar to one another, making breeding and selecting processes more difficult. Here we carried out whole-genome sequencing of five American minks with Royal pastel (b/b) phenotypes originating from two distinct mink populations. We identified an insertion of endogenous retroviral element type 1 (ERV1) into the first intron of the gene encoding the HPS3 protein, which regulates the trafficking of tyrosinase-containing vesicles to maturing melanosomes. With Cas9-targeted nanopore sequencing, we reconstructed the full-length sequence of the 11.7 Kb ERV1 insertion and observed hypermethylation that spread to the HPS3 gene promoter region. These findings highlight the role of HPS3 in the formation of melanosomes and melanin, as well as the genetic process regulating the intensity and spectrum of hair colour. Moreover, in mink breeding projects, these data are also useful for tracking economically important fur qualities.
(© 2024 Stichting International Foundation for Animal Genetics.)
Databáze: MEDLINE
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