The Effect of a Coat Colour-Associated Genes Polymorphism on Animal Health – A Review

Aasland M., Klungland H.,Lien S. (2000). Two polymorphisms in the bovine mast cell growth factor gene (MGF). Anim. Genet., 31, p. 345.10.1046/j.1365-2052.2000.00677.xSearch in Google Scholar

Albrecht E., Komolka K. Kuzinski J.. Maak S. (2012). Agouti revisited: transcript quantification of the ASIP gene in bovine tissues related to protein expression and localization. PLoS ONE, 7(4): e35282. doi: 10.1371.Search in Google Scholar

Andersson L.S., Axels son J.Dubielzig RR, Lindgr en G., Ekes ten B. (2011). Mul- tiple congenital ocular anomalies in Icelandic horses. BMC Vet. Res., 7: 21-25.Search in Google Scholar

Anistoroaei R. Krogh A.K, Christensen K (2013). A frameshift mutation in the LYST gene is responsible for the Aleutian color and the associated Chediak-Higashi syndrome in Ameri- can mink. Anim. Genet.. 44: 178-183.Search in Google Scholar

Audo I., Kohl S., Leroy B.P.,Munier F.L., Guillonneau X., Mohand-Said S.,Bu- jakowska K. Nandrot E.F., Lorenz B., Preising M, Kellner U., Renner AB., Bernd A, Antonio A., Moskova-Doumanova V., Lancelot ME., Polos- chek C.M,Drumare I.,Defoort-DhellemmesS.,WissingerB.,LeveillardT., Hamel C.P., Schorderet D.F., De Baere E., Berger W, Jacobson S.G., Zren- ner E., Sahel J.A, Bhattacharya S.S., Zeitz C. (2009). TRMP1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J. Hum. Genet.. 85: 720-729.Search in Google Scholar

Bauer T.R, Adler RL., Hickstein D.D. (2009). Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems. ILAR J., 50: 168-186.Search in Google Scholar

Becerril C.M, Wilcox C.J., Lawlor T.J., Wiggans G.R, Webb D.W. (1993). Effects of percentage of white coat color on Holstein production and reproduction in a subtropical climate. J. Dairy Sei, 76: 2286-2291.Search in Google Scholar

Bellone RR (2010). Pleiotropic effects of pigmentation genes in horses. Anim. Genet., 41 (suppl. 2): 100-110.Search in Google Scholar

Bellone RR.. Brooks SA., Sandmeyer L., Murphy B.A, Forsyth G., Archer S., Bailey E.. Grahn B. (2008). Differential gene expression of TRPM1. the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equiis cabalhis). Genetics. 179: 1861-1870.Search in Google Scholar

Benson KF.. Person RE., Li F.-Q., Williams K, Horwitz M (2004). Paradoxical ho- mozygous expression from heterozygotes and heterozygous expression from homozygotes as a con- sequence of transcriptional infidelity through a polyadenine tract in the .iPSBl gene responsible for canine cyclic neutropenia. Nucleid Acid Res., 32: 6327-6333.Search in Google Scholar

Bowling A.T., R u v i n s k y A (2000). The Genetics of the Horse. CAB International. 527 pp.Search in Google Scholar

Brooks S.A, Gabreski N., Miller D., Brisbin A, Brown H.E., Streeter C., Me- zey J..Cook D., Antczak D.F. (2010). Whole-genome SNP association in the horse: identifi- cation of a deletion in myosin Va responsible for Lavender Foal Syndrome. PLoS Genet.. 6(4): doi: 10.1371 /joumal.pgen. 1000909.Search in Google Scholar

Brunberg E., Andersson L., Cothran G., Sandberg K, Mikko S., Lindgren G. (2006). Amissense mutation in PMEL17 is associated with the Silver coat color in the horse. BMC Genet.. 7, p. 46.10.1186/1471-2156-7-46161711317029645Search in Google Scholar

Cargill E.J., Fa mu la T.R, Strain G.M, Murphy KE. (2004). Heritability and segregation analysis of deafiiess in U.S. Dalmatians. Genetics. 166: 1385-1393.Search in Google Scholar

Charlier C., Denys B.. Belanche J.L, Coppieters W., Grobet L., Mni M, Wo- mack J.Hanset R, Georges M. (1996). Microsatellite mapping of the bovine roan locus: a major determinant of White Heifer disease. Mamm. Genome. 7: 138-142.Search in Google Scholar

Cieslak J., Cholewinski G., M a c ko w s k i M. (2013). Genotyping of coat color genes (MC 1R ASIP, PMEL17 and MATP) polymorphism in cold-blooded horses bred in Poland reveals sporadic mistakes in phenotypic descriptions. Anim. Sei. Pap. Rep., 31: 159-164.Search in Google Scholar

Clark L.A,Wahl J.M,Rees Ch.A,Murphy KE. (2006). Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. PNAS USA. 103: 1376-1381.Search in Google Scholar

Cooper MP.,Fretwell N.,Bailey S.J.,Lyons L.A (2006). White spotting in the domestic cat (Felis catiis) maps near KIT on feline chromosome Bl. Anim. Genet., 37: 163-165.Search in Google Scholar

Ducrest A.L., Keller L., Roulin A (2008). Pleiotropy in the melanocortin system, coloration and behavioural syndromes. Trends Ecol. Evol., 23: 502-509.Search in Google Scholar

Durkin K, Coppieters W., Drögemüller C., Ahariz N., Cambisano N., Druet T., Fasquelle C., Haile A. Horin P., Huang L., Kamatani Y., Karim L., Lat- hrop M., Moser S., Oldenbroek K, Rieder S., Sartelet A., Sölkner J., Stäl- hammar H., Zelenika D., Zhang Z., Leeb T., Georges M, Charlier C. (2012). Serial translocation by means of circular intermediates underlies colour sidedness in cattle. Nature. 482: 81-84.Search in Google Scholar

Fanelli H.H. (2005). Coat colour dilution lethal (lavender foal syndrome): a tetany syndrome of Arabian foals. Equine Vet. Educ., 17: 260-263.Search in Google Scholar

Fernandez L.P, Milne RL.. Pita G., Floristan U., Sendagorta E., Feito M., Avi- les A.. Martin-Gonzales M., Läzaro P. Benitez J., Ribas G. (2009). Pigmenta- tion-related genes and their implication in malignant melanoma susceptibility. Exp. Dermatol.. 18: 634-642.Search in Google Scholar

Fernandez-Rodrigues A, Estelle J.. Blin A., Munoz M, Crechet F., Deme- nais F., Vincent-Naulleau S., B ourneuf E. (2014). KIT and melanoma predisposition in pigs: sequence variants and association analysis. Anim. Genet.. 45: 445-448.Search in Google Scholar

Ferreira dos Santos Vi der a I., Magi na S. (2013). Mechanisms regulating melanogenesis. An. Bras. Dermatol.. 88: 76-83.Search in Google Scholar

Finno C.J., Spier S.J., Va 1 b e r S.J. (2009). Equine diseases caused by known genetic mutations. Vet. J., 179: 336-347.Search in Google Scholar

Flisikowska T., Kind A., Schnieke A (2014). Genetically modified pigs to model human diseases. J. AppL Genet.. 55: 53-64.Search in Google Scholar

FontanesiL., Scotti E.. Ru s s o V. (2010). Analysis of SNPs in the £77 gene of cattle with differ- ent coat colour patterns and perspectives to use these markers for breed traceability and authentica- tion of beef and dairy products. Italian J. Anim. Sei, 9: e42, doi: 10.4081/ijas.2010.e42.10.4081/ijas.2010.e42Search in Google Scholar

Guo H., Carlson J .A., SlominskiA (2012). Role of TRMP in melanocytes and melanoma. Exp. DermatoL. 21: 650-654.Search in Google Scholar

Haase B.Brooks SA., S chlumbaum A,Azor P.J.,Bailey E.,Alaeddine F.,Meike Me vis sen M. Burger D.. Poncet P. A, Rieder S., Leeb T. (2007). Allelic heterogene- ity at the equine KIT Locus in dominant white (W) horses. PLoS Genetics, 3: 2101-2108.Search in Google Scholar

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

Hauswirth R. Haase B.. Blatter M., Brooks S.A., Burger D., Drögemüller C., Gerber V., Henkes D.,Janda J.,Rony J.,Magdesian KG., Mat thews J.M, Pon- cet PA, S vans son V., Tozaki T., Wilkinson-White L., Penedo M, Cecilia T., Riede S., Leeb T. (2012). Mutations in MI IF and PAX3 cause 'splashed white’¹ and other white spotting phenotypes in horses. PLoS Genetics, 8: 1-10.Search in Google Scholar

Hauswirth R, Jude R, Haase B . Bellone RR, Archer S., Holl H., Brooks S.A., Tozaki T.. Penedo M.C.T., R i e d e r S.,Leeb T. (2013). Novel variants in the KIT and PAX3 genes in horses with white-spotting coat colour phenotypes. Anim. Genet.. 44: 763-765.Search in Google Scholar

Hirobe T. (2011). How are proliferation and differentiation of melanocytes regulated? Pigm Cell Melanoma Res., 24: 462-478.Search in Google Scholar

Holl H.. Brooks S., Bailey E. (2010). De no\o mutation of KIT discovered as a result of a non- hereditary white coat color pattern. Anim Genet.. 41 (suppL 2): 196-198.Search in Google Scholar

Hudjashov G., Villems R, Kivisild T. (2013). Global patterns of diversity'and selection in human tyrosinase gene. PLOS One, 8(9), doi: 10.1371/joumal.pone.0074307.Search in Google Scholar

Isotani M., Tamura K, Yagihara H.. Hi kos aka M, Ono K, Washizu T., Bonko - b ar a M. (2006). Identification of a c-kit exon 8 internal tandem duplication in a feline mast cell tumor case and its favorable response to the tyrosine kinase inhibitor imatinib mesylate. Vet. Im- munol. Immunopathol.. 114: 168-172.Search in Google Scholar

Itakura E., Mi zu shim a N. (2013). Syntaxin 17: the autophagosomal SNARE. Autophagy. 9: 917-919.Search in Google Scholar

Johansson A., Pielberg G.. Andersson L.,Edfors-Lilja I. (2005). Polymorphismatthe porcine dominant white/KIT locus influence coat color and peripheral blood cell measures. Anim Genet., 36: 288-296.Search in Google Scholar

Jolly R.D., Wills J.L., Kenny J.E., Cahill J.I., Howe L. (2008). Coat-colour dilution and hypotrichosis in Hereford crossbred calves. New' Zeal. Vet. J., 56: 74-77. Search in Google Scholar

Jung J.. Bohn G., Allroth A., Boztug K. Brandes G., Sandrock I., Schaffer AA, Rathinam C., Köllner L, Beger C., Schilke R, Welte K, Grimbacher B., Klein Ch. (2006). Identification of a homozygous deletion in the AP3B1 gene causing Hernia 11- sky-Pudlak syndrome, type 2. Blood, 108: 362-369.Search in Google Scholar

Kaelin Ch.B.. B arsh G.S. (2013). Genetics of pigmentation in dogs and cats. Annu. Rev. Biosci. 1: 125-156.Search in Google Scholar

Kaplan J., De Domenico I.. Ward D.M. (2008). Chediak-Higashi syndrome. Curr. Opin. He- matol., 15: 22-29.Search in Google Scholar

Kim J.H.. Kang Kl., Sohn H.J., Woo H., Jean Y.H.,Hwang E.K (2005). Color-dilutionalo- pecia in dogs. J. Vet. Sei, 6: 259-261.Search in Google Scholar

Kunieda T. (2005). Identification of genes responsible for hereditary diseases in Japanese beef cattle. Anim. Sei. J., 76: 525-533.Search in Google Scholar

LightbodyT. (2002). Foal with Overo lethal white syndrome bom to a registered quarter horse mare. Can. Vet. J., 43: 715-717.Search in Google Scholar

Lightner J.K (2009). Genetics of coat color II: the agouti signaling protein (ASIP) gene. Answers Res. J., 2: 79-84.Search in Google Scholar

Lightner JJC. (2010). Post-flood mutation of the KIT gene and the rise of white coloration patterns. J. Creation, 24: 67-72.Search in Google Scholar

Manne J.,Argeson AC.. Siracusa LID. (1995). Mechanism for the pleiotropic effects of the agouti gene. PNAS USA, 92: 4721^724.Search in Google Scholar

Marklund S., Möller M, Sandberg K, Andersson L. (1999). Close association between sequence polymorphism in the KIT gene and roan coat color in horses. Mamm Genome. 10: 283-288.Search in Google Scholar

Mau C., Poncet PA., Bucher B.. Stranzinger G., Rieder S. (2004). Genetic mapping of dominant white (W). a homozygous lethal condition in the horse (Equiis caballus). J. Anim Breed. Genet.. 121: 374-383.Search in Google Scholar

Pastural E..Ersoy F.,Yalman N.,Wulffraat N.,Grillo E.,Ozkinay F.,Tezcan L, Gediköglu G., Philippe N., Fischer A, de Sain BasileG. (2000). Two genes are responsible for Griscelh syndrome at the same 15q21 locus. Genomics, 63: 299-306.Search in Google Scholar

Philipp U., Lupp B., Mömke S., Stein V., Tipold A., Eule J.C., Rehage J., Distl O. (2011). A MI IF mutation associated with a dominant white phenotype and bilateral deafness in Ger- man Fleckvieh cattle. PLoS ONE, 6(12): 1-6.Search in Google Scholar

Pielberg G., Olsson C., Syvanen A.C., Abdersson L. (2002). Unexpected high allel- ic diversity at the KIT locus causing dominant white color in the domestic pigs. Genetics. 160: 305-311.Search in Google Scholar

PingaultV.,Ente D.,Dastot-Le Moal F.,Gooddens M,Marlin S.,Bondurand N. (2010). Review and update of mutations causing Waardenburg syndrome. Hum. Mutat.. 31: 391-406.Search in Google Scholar

Reissmann M, Bierwolf J.. Brockmann G.A (2007). Two SNPs in the SILV gene are as- sociated with silver coat colour in ponies. Anim Genet., 38, p. 106.10.1111/j.1365-2052.2006.01553.x17257181Search in Google Scholar

Reissmann M., Ludwig A. (2013). Pleiotropic effects of coat colour-associated mutations in hu- mans. mice and other mammals. Semin Cell Dev. Biol., 24: 576-586.Search in Google Scholar

Rosengren Pielberg G., Golovko A., Sundström E., Curik L, Lennartsson J., Seltenhammer M.H., Druml T., Binns M, Fitzsimmons C., Lindgren G., Sandberg K, Baumung R, Vetterlein M, Strömberg S., Grabherr M, Wa- de C., Lindblad-Toh K, Ponten F., Heldin C.H., Sölkner J., Andersson L. (2008). A cis-acting regulatory mutation causes premature hair graying and susceptibility to mela- noma in the horse. Nat. Genet.. 40: 1004-1009.Search in Google Scholar

Scherer D., Kumar R (2010). Genetics of pigmentation in skin cancer - a review. Mutat. Res., 705:141-153.Search in Google Scholar

Schmutz S.M., Berryere T.G. (2007). Genes affecting coat colour pattern in domestic dogs: a review. Anim Genet., 38: 539-549.Search in Google Scholar

Schoeman S. J. (1998). Genetics and environmental factors influencing the quality of pelt traits in Karakul sheep. South African J. Anim Sei., 28: 125-137.Search in Google Scholar

Seitz JJ., Schmutz S.M,Thue T.D.. Buchanan F.C. (1999). A missense mutation in the bo- Search in Google Scholar