Research Article
Abstract
Project Number
Project no: 18.KARİYER.288
References
- Adalsteinsson S (1974): Inheritance of the palomino color in Icelandic horses. J Hered, 65, 15-20.
- Avila F, Hughes SS, Magdesian KG, et al (2022): Breed distribution and allele frequencies of base coat color, dilution, and white patterning variants across 28 horse breeds. Genes, 13, 1641.
- Belousova NF, Bass SP, Zinoveva SA, et al (2020): Features of coat color and markings and impact of dun factor on Vyatka horse breed. BIO Web of Conferences, 17, 00202.
- Bibi N, Ullah A, Darwesh L, et al (2020): Identification and computational analysis of novel TYR and SLC45A2 gene mutations in pakistani families with identical nonsyndromic oculocutaneous albinism. Front Genet, 11, 749.
- Bin BH, Bhin J, Yang SH, et al (2015): Membrane-Associated Transporter Protein (MATP) regulates melanosomal pH and influences tyrosinase activity. PLoS One, 10, 1-16.
- Castle WE (1954): Coat color inheritance in horses and in other mammals. Genetics, 39, 35-44.
- Castle WE, Singleton WR (1961): The palomino horse. Genetics, 46, 1143-1150.
- Du J, Fisher DE (2002): Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J Biol Chem, 277, 402–406.
- Fukamachi S, Shimad A, Shima A (2001): Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet, 28, 381–385.
- Gunnarsson U, Hellström AR, Tixier-Boichard M, et al (2007): Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail. Genetics, 175, 867–877.
- Hacan Ö, Koçak S, Çelikeloğlu K, et al (2018): The independent spirit of Turkey: Wild horse. IJVAR, 1, 16-18.
- Hall TA (1999): BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Ser, 41, 95-98.
- Holl HM, Pflug KM, Yates KM, et al (2019): A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses. Anim Genet, 50, 271-274.
- Householder DD (2024): The genetics of equine coat color, Texas A&M University, Department of Animal Science, Equine Science Program. Available at: https://hdl.handle. net/1969.1/201335 (Accessed 14 Feb, 2025).
- Kalendar R, Lee D, Schulman AH (2009): FastPCR software for PCR primer and probe design and repeat search. G3, 3, 1-14.
- Lee AY (2021): Skin pigmentation abnormalities and their possible relationship with skin aging. Int J Mol Sci, 22, 3727.
- Locke MM, Ruth LS, Millon LV, et al (2001): The cream dilution gene, responsible for the palomino and buckskin coat colours, maps to horse chromosome 21. Anim Genet, 32, 340-343.
- Mariat D, Taourit S, Guerin G (2003): A mutation in the MATP gene causes the cream coat colour in the horse. Genet Sel Evol, 35, 119-133.
- Marín Navas C, Delgado Bermejo JV, McLean AK, et al (2022): One hundred years of coat colour influences on genetic diversity in the process of development of a composite horse breed. Vet Sci, 9, 68.
- Moellmann G, Slominski A, Kuklinska E, et al (1988): Regulation of melanongenesis in melanocyte. Pigment Cell Res, 1, 79-87.
- Nakamura K, Tozaki T, Kakoi H, et al (2019): Variation in the MC1R, ASIP, and MATP genes responsible for coat color in Kiso horse as determined by SNaPshot™ genotyping. J Vet Med Sci, 81, 100–102.
- Newton JM, Cohen-Barak O, Hagiwara N, et al (2001): Mutations in the human orthologue of the Mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet, 69, 981–988.
- Oyebanjo MO, Obi EA, Salako AE (2020): Genes affecting coat colour and the resulting variation in horses (Equus caballus) – A review. J Anim Sci Vet Med, 7, 127-149.
- Reissman M, Musa L, Zakizadeh S, et al (2016): Distribution of coat-color-associated alleles in the domestic horse population and Przewalski’s horse. J Appl Genetics, 57, 519-525.
- Ruvinsky A, Bowling AT (2000): The Genetics of The Horse, CABI Publishing, New York.
- Sengupta M, Dutta T, Ray K (2019): SLC45A2 (solute carrier family 45 member 2). Atlas of Genet Cytogenet Oncol Haematol, 23, 187-189.
- Sevane N, Sanz CR, Dunner S (2019): Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses. Anim Genet, 50, 275–278.
- Sponnenberg DP (2009): Equine Color Genetics, Wiley-Blackwell Press, Iowa.
- Thiruvenkadan AK, Kandasamy N, Panneerselvam S (2008): Coat colour inheritance in horses. Livest Sci, 117, 109-129.
- Tóth L, Fábos B, Farkas K, et al (2017): Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4. BMC Med Genet, 18, 1-4.
- Videira IFS, Moura DFL, Magina S (2013): Mechanisms regulating melanogenesis. An Bras Dermatol, 88, 76-83.
- Winkler PA, Gornik KR, Ramsey DT, et al (2014): A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. PLoS One, 9:e92127.
- Woolf CM, Swafford JR (1988): Evidence for eumelanin and pheomelanin producing genotypes in the Arabian horses. J Hered, 79, 100-106.
- Xu X, Dong GX, Hu XS, et al (2013): The genetic basis of white tigers. Curr Biol, 23, 1031–1035.
- Yoshihara T, Tozaki T, Nakaya S, et al (2025): Genetic characterization of phenotypic traits in endangered Taishu horse breed and their breeding strategy. J Equine Vet Sci, 144, 105233.
- Zhou S, Sakamoto K (2020): Citric acid promoted melanin synthesis in B16F10 mouse melanoma cells, but inhibited it in human epidermal melanocytes and HMV-II melanoma cells via the GSK3β/β-catenin signaling pathway. PLoS One, 15, e0243565.
A mutation in the SLC45A2 gene causing the cremello phenotype in a Turkish wild horse
Abstract
Coat color not only aids in the identification of horses but also plays a significant role in the accurate diagnosis and prevention of genetic disorders associated with specific coat colors. A wide variety of coat colors are observed phenotypically in horses, and these are determined by numerous different genes. This study aimed to determine whether a wild foal brought to Afyonkarahisar in 2017 as part of the "Wild Horse Control and Rehabilitation Project," which is affiliated with the 8th Regional Directorate of Nature Conservation and National Parks of the Ministry of Forestry and Water Affairs, exhibited the cream coat color, which is a rare phenotype among horses. Accordingly, the presence of a mutation in the 2nd exon of the SLC45A2 gene (solute carrier family 45 member 2, also known as MATP or AIM-1) was investigated. Seven Thoroughbred horses with basic dark colors (chestnut or bay) were used as a control group. The DNA sequencing analysis revealed a point mutation in the 2nd exon of the SLC45A2 gene, specifically NC_009164.3:g.31690653 G>A (rs1140980396). It was concluded that this mutation may lead to the expression of the cream gene (CCr) and the resulting cremello phenotype in wild horses, which are one of the native genetic resources of Türkiye. However, it is considered that more comprehensive and detailed studies are needed to accurately determine the phenotypic coat color variations observed in feral horses, their corresponding genotypes, and the allele frequencies within the population.
Keywords
Project Number
Project no: 18.KARİYER.288
References
- Adalsteinsson S (1974): Inheritance of the palomino color in Icelandic horses. J Hered, 65, 15-20.
- Avila F, Hughes SS, Magdesian KG, et al (2022): Breed distribution and allele frequencies of base coat color, dilution, and white patterning variants across 28 horse breeds. Genes, 13, 1641.
- Belousova NF, Bass SP, Zinoveva SA, et al (2020): Features of coat color and markings and impact of dun factor on Vyatka horse breed. BIO Web of Conferences, 17, 00202.
- Bibi N, Ullah A, Darwesh L, et al (2020): Identification and computational analysis of novel TYR and SLC45A2 gene mutations in pakistani families with identical nonsyndromic oculocutaneous albinism. Front Genet, 11, 749.
- Bin BH, Bhin J, Yang SH, et al (2015): Membrane-Associated Transporter Protein (MATP) regulates melanosomal pH and influences tyrosinase activity. PLoS One, 10, 1-16.
- Castle WE (1954): Coat color inheritance in horses and in other mammals. Genetics, 39, 35-44.
- Castle WE, Singleton WR (1961): The palomino horse. Genetics, 46, 1143-1150.
- Du J, Fisher DE (2002): Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J Biol Chem, 277, 402–406.
- Fukamachi S, Shimad A, Shima A (2001): Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet, 28, 381–385.
- Gunnarsson U, Hellström AR, Tixier-Boichard M, et al (2007): Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail. Genetics, 175, 867–877.
- Hacan Ö, Koçak S, Çelikeloğlu K, et al (2018): The independent spirit of Turkey: Wild horse. IJVAR, 1, 16-18.
- Hall TA (1999): BioEdit: A user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucl Acids Symp Ser, 41, 95-98.
- Holl HM, Pflug KM, Yates KM, et al (2019): A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses. Anim Genet, 50, 271-274.
- Householder DD (2024): The genetics of equine coat color, Texas A&M University, Department of Animal Science, Equine Science Program. Available at: https://hdl.handle. net/1969.1/201335 (Accessed 14 Feb, 2025).
- Kalendar R, Lee D, Schulman AH (2009): FastPCR software for PCR primer and probe design and repeat search. G3, 3, 1-14.
- Lee AY (2021): Skin pigmentation abnormalities and their possible relationship with skin aging. Int J Mol Sci, 22, 3727.
- Locke MM, Ruth LS, Millon LV, et al (2001): The cream dilution gene, responsible for the palomino and buckskin coat colours, maps to horse chromosome 21. Anim Genet, 32, 340-343.
- Mariat D, Taourit S, Guerin G (2003): A mutation in the MATP gene causes the cream coat colour in the horse. Genet Sel Evol, 35, 119-133.
- Marín Navas C, Delgado Bermejo JV, McLean AK, et al (2022): One hundred years of coat colour influences on genetic diversity in the process of development of a composite horse breed. Vet Sci, 9, 68.
- Moellmann G, Slominski A, Kuklinska E, et al (1988): Regulation of melanongenesis in melanocyte. Pigment Cell Res, 1, 79-87.
- Nakamura K, Tozaki T, Kakoi H, et al (2019): Variation in the MC1R, ASIP, and MATP genes responsible for coat color in Kiso horse as determined by SNaPshot™ genotyping. J Vet Med Sci, 81, 100–102.
- Newton JM, Cohen-Barak O, Hagiwara N, et al (2001): Mutations in the human orthologue of the Mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet, 69, 981–988.
- Oyebanjo MO, Obi EA, Salako AE (2020): Genes affecting coat colour and the resulting variation in horses (Equus caballus) – A review. J Anim Sci Vet Med, 7, 127-149.
- Reissman M, Musa L, Zakizadeh S, et al (2016): Distribution of coat-color-associated alleles in the domestic horse population and Przewalski’s horse. J Appl Genetics, 57, 519-525.
- Ruvinsky A, Bowling AT (2000): The Genetics of The Horse, CABI Publishing, New York.
- Sengupta M, Dutta T, Ray K (2019): SLC45A2 (solute carrier family 45 member 2). Atlas of Genet Cytogenet Oncol Haematol, 23, 187-189.
- Sevane N, Sanz CR, Dunner S (2019): Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses. Anim Genet, 50, 275–278.
- Sponnenberg DP (2009): Equine Color Genetics, Wiley-Blackwell Press, Iowa.
- Thiruvenkadan AK, Kandasamy N, Panneerselvam S (2008): Coat colour inheritance in horses. Livest Sci, 117, 109-129.
- Tóth L, Fábos B, Farkas K, et al (2017): Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4. BMC Med Genet, 18, 1-4.
- Videira IFS, Moura DFL, Magina S (2013): Mechanisms regulating melanogenesis. An Bras Dermatol, 88, 76-83.
- Winkler PA, Gornik KR, Ramsey DT, et al (2014): A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. PLoS One, 9:e92127.
- Woolf CM, Swafford JR (1988): Evidence for eumelanin and pheomelanin producing genotypes in the Arabian horses. J Hered, 79, 100-106.
- Xu X, Dong GX, Hu XS, et al (2013): The genetic basis of white tigers. Curr Biol, 23, 1031–1035.
- Yoshihara T, Tozaki T, Nakaya S, et al (2025): Genetic characterization of phenotypic traits in endangered Taishu horse breed and their breeding strategy. J Equine Vet Sci, 144, 105233.
- Zhou S, Sakamoto K (2020): Citric acid promoted melanin synthesis in B16F10 mouse melanoma cells, but inhibited it in human epidermal melanocytes and HMV-II melanoma cells via the GSK3β/β-catenin signaling pathway. PLoS One, 15, e0243565.
There are 36 citations in total.
Details
| Primary Language | English |
|---|---|
| Subjects | Animal Science, Genetics and Biostatistics |
| Journal Section | Research Article |
| Authors | |
| Project Number | Project no: 18.KARİYER.288 |
| Early Pub Date | July 24, 2025 |
| Publication Date | September 1, 2025 |
| Submission Date | March 3, 2025 |
| Acceptance Date | July 5, 2025 |
| Published in Issue | Year 2025 Accepted Papers |