DOI: 10.3724/SP.J.1005.2011.01171

Hereditas (Beijing) (遗传) 2011/33:11 PP.1171-1178

Effects of Kit gene on coat depigmentation in white horses

Coat color of horse is an important basis for both species identification and individual recognition and is also one of the important references traits for breeding. Therefore, the research on the mechanism of coat fading has become an important part of horses’ coat color study. It has been found that the white phenotype is closely related to the mutation of kit gene, which is located on chromosome 3. Investigated results showed that the formation of the epidermal melanoblast and melanin relies on the expression of kit gene, which determines the presence of white phenotype. Nevertheless, studies results have shown that the mutation of kit gene in the white horse exhibited significant differences among species. Horses that the coat color completely faded are very rare and are found occasionally in a few species. However, a larger number of horses that coat color completely faded, called Mongolian white horse, are found in West Ujimqin , Xilin Gol League, Inner Mongolia. Therefore, genetic mechanism of color fading in Mongolian white horses is still not clear. No typical mutations have been observed in 21 exons of kit gene in Mongolian white horse. This paper summarized recent international studies on molecular mechanism of color fading and tried to lay the foundation for the study of forma-tion mechanism of Mongolian white horse. The aim of this review is to provide some valuable references to horses coat color research and breeding.

Key words:kit gene,white horses,coat color,depigmentation

ReleaseDate:2014-07-21 16:02:03

[1] Haase B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, Alaeddine F, Mevissen M, Burger D, Poncet PA, Rieder S, Leeb T. Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet, 2007, 3(11): e195.

[2] Haase B, Brooks SA, Tozaki T, Burger D, Poncet PA, Rieder S, Hasegawa T, Penedo C, Leeb T. Seven novel KIT mutations in horses with white coat colour pheno-types. Anim Genet, 2009, 40(5): 623-629.

[3] Castle WE. Coat color inheritance in horses and in other mammals. Genetics, 1954, 39(1): 35-44.

[4] Pielberg G, Mikko S, Sandberg K, Andersson L. Comparative linkage mapping of the Grey coat colour gene in horses. Anim Genet, 2005, 36(5): 390-395.

[5] Brooks SA, Bailey E. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. Mamm Genome, 2005, 16(11): 893-902.

[6] Metallinos DL, Bowling AT, Rine J. A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung Disease. Mamm Genome, 1998, 9(6): 426-431.

[7] Marklund S, Moller M, Sandberg K, Andersson L. Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. Mamm Genome, 1999, 10(3): 283-288.

[8] Woolf CM. Multifactorial inheritance of common white markings in the Arabian horse. J Hered, 1990, 81(4): 250-256.

[9] Brooks SA, Lear T, Adelson DL, Bailey E. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenet Genome Res, 2007, 119(3-4): 225-230.

[10] Hwang KC, Cho SK, Lee SH, Park JY, Kwon DN, Choi YJ, Park C, Kim JH, Park KK, Hwang S, Park SB, Kim JH. Depigmentation of skin and hair color in the somatic cell cloned pig. Dev Dyn, 2009, 238(7): 1701-1708.

[11] Roskoski R Jr. Structure and regulation of Kit protein-tyrosine kinase-the stem cell factor receptor. Biochem Biophys Res Commun, 2005, 338(3): 1307-1315.

[12] Roskoski R Jr. Signaling by Kit protein-tyrosine kinase-the stem cell factor receptor. Biochem Biophys Res Commun, 2005, 337(3): 1-13.

[13] Blume-Jensen P, Claesson-Welsh L, Siegbahn A, Zsebo KM, Westermark B, Heldin CH. Activation of the human c-kit product by ligand-induced dimerization mediates circular actin reorganization and chemotaxis. EMBO J, 1991, 10(13): 4121-4128.

[14] Rönnstrand L. Signal transduction via the stem cell factor receptor/c-Kit. Cell Mol Life Sci, 2004, 61(19-20): 2535-2548.

[15] Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci USA, 1991, 88(19): 8696-8699.

[16] Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol, 1994, 103(S5): 137S-140S.

[17] Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, Sugahara H, Butterfield JH, Ashman LK, Kanayama Y. Identification of mutations in the coding sequence of the protooncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest, 1993, 92(4): 1736-1744.

[18] Fleischman RA, Saltman DL, Stastny V, Zneimer S. Deletion of the c-kit protooncogene in the human developmental defect piebald trait. Proc Natl Acad Sci USA, 1991, 88(23): 10885-10889.

[19] Santschi EM, Purdy AK, Valberg SJ, Vrotsos PD, Kaese H, Mickelson JR. Endothelin receptor B polymorphism asso-ciated with lethal white foal syndrome in horses. Mamm Genome, 1998, 9(4): 306-309.

[20] Castle WE. The ABC of color inheritance in horses. Genetics, 1948, 33(1): 22-35.

[21] Pulos WL, Hutt FB. Lethal dominant white in horses. J Hered, 1969, 60(2): 59-63.

[22] Haase B, Obexer-Ruff G, Dolf G, Rieder S, Burger D, Poncet PA, Gerber V, Howard J, Leeb T. Haematological parameters are normal in dominant white Franches-Mon-tagnes horses carrying a KIT mutation. Vet J, 2010, 184(3): 315-317.

[23] Cattanach B. The 'dalmatian dilemma': white coat colour and deafness. J Small Anim Pract, 1999, 40(4): 193-200.

[24] Rosengren Pielberg G, Golovko A, Sundström E, Curik I, Lennartsson J, Seltenhammer MH, Druml T, Binns M, Fitzsimmons C, Lindgren G, Sandberg K, Baumung R, Vetterlein M, Strömberg S, Grabherr M, Wade C, Lindblad-Toh K, Pontén F, Heldin CH, Sölkner J, Andersson L. A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nat Genet, 2008, 40(8): 1004-1009.

[25] Chabot B, Stephenson DA, Chapman VM, Besmer P, Bernstein A. The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature, 1988, 335(6185): 88-89.

[26] Geissler EN, Ryan MA, Housman DE. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell, 1988, 55(1): 185-192.