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

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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. et al.

In: Animal Genetics, Vol. 55, No. 5, 05.09.2024, p. 788-792.

Research output: Contribution to journal › Article › peer-review

Author

Manakhov, Andrey D. ; Aarakelyan, Nelli A. ; Lapteacru, Adela V. et al. / Genomic analysis links the American mink Royal pastel coat phenotype to retroviral element type 1 insertion in the HPS3 gene. In: Animal Genetics. 2024 ; Vol. 55, No. 5. pp. 788-792.

BibTeX

@article{80d4225b09844710995007a7fefddfab,

title = "Genomic analysis links the American mink Royal pastel coat phenotype to retroviral element type 1 insertion in the HPS3 gene",

abstract = "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. {\textcopyright} 2024 Stichting International Foundation for Animal Genetics.",

keywords = "American mink, ERV1, HPS3, Neogale vison, Royal pastel, coat colour, hypermethylation, pigmentation",

author = "Manakhov, {Andrey D.} and Aarakelyan, {Nelli A.} and Lapteacru, {Adela V.} and Andreeva, {Tatiana V.} and Trapezov, {Oleg V.} and Rogaev, {Evgeny I.}",

year = "2024",

month = sep,

day = "5",

doi = "10.1111/age.13461",

language = "English",

volume = "55",

pages = "788--792",

journal = "Animal Genetics",

issn = "0268-9146",

publisher = "Wiley-Blackwell",

number = "5",

}

RIS

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