Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Genomic analysis links the American mink Royal pastel coat phenotype to retroviral element type 1 insertion in the HPS3 gene. / Manakhov, Andrey D.; Aarakelyan, Nelli A.; Lapteacru, Adela V. и др.
в: Animal Genetics, Том 55, № 5, 05.09.2024, стр. 788-792.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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TY - JOUR
T1 - Genomic analysis links the American mink Royal pastel coat phenotype to retroviral element type 1 insertion in the HPS3 gene
AU - Manakhov, Andrey D.
AU - Aarakelyan, Nelli A.
AU - Lapteacru, Adela V.
AU - Andreeva, Tatiana V.
AU - Trapezov, Oleg V.
AU - Rogaev, Evgeny I.
PY - 2024/9/5
Y1 - 2024/9/5
N2 - 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.
AB - 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.
KW - American mink
KW - ERV1
KW - HPS3
KW - Neogale vison
KW - Royal pastel
KW - coat colour
KW - hypermethylation
KW - pigmentation
UR - https://www.mendeley.com/catalogue/ce7aaf21-4b6b-34e3-b02f-b760d0e272aa/
U2 - 10.1111/age.13461
DO - 10.1111/age.13461
M3 - Article
C2 - 38956930
VL - 55
SP - 788
EP - 792
JO - Animal Genetics
JF - Animal Genetics
SN - 0268-9146
IS - 5
ER -
ID: 60795746