Email this article 
Melanophilin polymorphism in ferrets of different colors
- Authors: Kosovsky G.Y.1, Glazko V.I.1, Abramov O.I.1, Glazko T.T.1
-
Affiliations:
- Afanas’ev Research Institute of Fur-Bearing Animal Breeding and Rabbit Breeding
- Issue: Vol 514, No 1 (2024)
- Pages: 101-106
- Section: Articles
- URL: https://ogarev-online.ru/2686-7389/article/view/258954
- DOI: https://doi.org/10.31857/S2686738924010197
- EDN: https://elibrary.ru/KHDSXD
- ID: 258954
Cite item
Open Access
Access granted
Abstract
In mammals, the main contribution to the variability of pigmentation is made by two groups of genes directly related to the metabolic pathways of pigment synthesis and controlling the transport of melanosomes in melanocytes to keratinocytes. In order to identify the genetic basis of pigmentation variants, the nucleotide sequences of the melanophilin gene were compared in two groups of ferrets – silver-colored and wild-type animals using sequencing of 16 exons. In carriers of silver color, a single nucleotide deletion was detected in the 9th exon, leading to a shift in the reading frame and the formation of a stop codon downstream. The protein encoded by the mutant allele is almost completely devoid of the C terminal domain of the protein responsible for the contact of melanosomes with actin during their muving to the periphery of melanocytes, but it retains the leading domain involved in the formation of melanosomes. The combination of the preservation of the N domain and the defect of the C domain of the mutant protein for the first time makes it possible to explain the incomplete dominance of the wild-type protein in heterozygotes.
Keywords
Full Text
About the authors
G. Yu. Kosovsky
Afanas’ev Research Institute of Fur-Bearing Animal Breeding and Rabbit Breeding
Author for correspondence.
Email: gkosovsky@mail.ru
Corresponding Member of the RAS
Russian Federation, pos. Rodniki, Ramenskii Region, Moscow ProvinceV. I. Glazko
Afanas’ev Research Institute of Fur-Bearing Animal Breeding and Rabbit Breeding
Email: gkosovsky@mail.ru
Russian Federation, pos. Rodniki, Ramenskii Region, Moscow Province
O. I. Abramov
Afanas’ev Research Institute of Fur-Bearing Animal Breeding and Rabbit Breeding
Email: gkosovsky@mail.ru
Russian Federation, pos. Rodniki, Ramenskii Region, Moscow Province
T. T. Glazko
Afanas’ev Research Institute of Fur-Bearing Animal Breeding and Rabbit Breeding
Email: gkosovsky@mail.ru
Russian Federation, pos. Rodniki, Ramenskii Region, Moscow Province
References
- Ermini L., Francis J. C., Rosa G. S., et al. Evolutionary selection of alleles in the melanophilin gene that impacts on prostate organ function and cancer risk // Evol Med Public Health. 2021. V. 9 (1). P. 311–321.
- Alshanbari F., Castaneda C., Juras R., et al. (2019) Comparative FISH-Mapping of MC1R, ASIP, and TYRP1 in New and Old World Camelids and Association Analysis With Coat Color Phenotypes in the Dromedary (Camelus dromedarius) // Front Genet. 2019. V. 10. P. 340.
- Jia X., Ding P., Chen S., et al. Analysis of MC1R, MITF, TYR, TYRP1, and MLPH Genes Polymorphism in Four Rabbit Breeds with Different Coat Colors // Animals (Basel). 2021. V. 11 (1). P. 81.
- Vaez M., Follett S. A., Bed'hom B., et al. A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken // BMC Genet. 2008. V. 9. P. 7.
- Bed'hom B., Vaez M., Coville J. L., et al. The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature // BMC Genomics.2012. V. 13. P. 442.
- Bauer A., Kehl A., Jagannathan V., et al. A novel MLPH variant in dogs with coat colour dilution. Anim Genet. 2018. V. 49 (1). P. 94–97.
- Demars J., Iannuccelli N., Utzeri V. J., et al. New Insights into the Melanophilin (MLPH) Gene Affecting Coat Color Dilution in Rabbits // Genes (Basel). 2018. V. 9 (9). P. 430.
- Ishida Y., David V. A., Eizirik E., et al. A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat // Genomics. 2006. V. 88 (6). P. 698–705.
- Cirera S., Markakis M. N., Christensen K., et al. New insights into the melanophilin (MLPH) gene controlling coat color phenotypes in American mink // Gene. 2013. V. 527 (1). P. 48–54.
- Manakhov A. D., Andreeva T. V., Trapezov O. V., Kolchanov N. A., Rogaev E. I. Genome analysis identifies the mutant genes for common industrial Silverblue and Hedlund white coat colours in American mink // Sci Rep. 2019. V. 9 (1). P. 4581.
- Li W., Sartelet A., Tamma N., et al. Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melanophilin gene accountable for a distinctive coat color in Belgian Blue cattle // Anim Genet. 2016. V. 47 (1). P. 110–113.
- Posbergh C. J., Staiger E. A., Huson H. A Stop-Gain Mutation within MLPH Is Responsible for the Lilac Dilution Observed in Jacob Sheep // Genes (Basel). 2020. V. 11 (6). P. 618.
- Kalds P., Zhou S., Gao Y., et al. Genetics of the phenotypic evolution in sheep: a molecular look at diversity-driving genes // Genet Sel Evol. 2022. V. 54 (1). P. 61.
- Lehner S., Gähle M., Dierks C., et al. Two-exon skipping within MLPH is associated with coat color dilution in rabbits // PLoS One. 2013. V. 8 (12). P. e84525.
- Fontanesi L., Scotti E., Allain D., et al. A frameshift mutation in the melanophilin gene causes the dilute coat colour in rabbit (Oryctolagus cuniculus) breeds // Anim Genet. 2013. V. 45 (2). P. 248–55.
- Demars J., Iannuccelli N., Utzeri V. J., et al. New Insights into the Melanophilin (MLPH) Gene Affecting Coat Color Dilution in Rabbits // Genes (Basel). 2918. V. 9 (9). P. 430.
- Hume A. N., Tarafder A.K, Ramalho J. S., et al. A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes // Mol Biol Cell. 2006. V. 17 (11). P. 4720–4735.
Supplementary files
