References and further reading about horse genetics

Other horse genetics references and further reading are scattered through out the site.

There are also a few references regarding the origins of the domestic horse here.

Horse genetics references



Cattanach, B.M., 1999. The Dalmatian dilemma: white coat colour and deafness. J. Small Anim. Pract. 40, 193–200.

Cook, D., Brooks, S., Bellone, R. and Bailey, E. 2008. Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses. PLoS Genet.4: e1000195. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2535566

Gower, Jeanette. 2000. Horse Colour Explained. A breeders perspective. The Crowood Press. ISBN 1 86126 384 8.

Hearing, VJ and Tsukamoto, K. Enzymatic control of pigmentation in mammals. FASEB J 5(14), 2902-9.

Jung, Gi-Dong, Yang, Jeong-Yeh, Song, Eun-Sup and Park, Jin-Woo. 2001. Stimulation of melanogenesis by glycyrrhizin in B16 melanoma cells. Experimental and Molecular Medicine 33(3), 131-135.

King, RA, Hearing, VJ, Creel, DJ, Oetting, WS. 1995. Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle DL (eds). Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, p 4353–4392.

Kwon, BS, Haq, AK, Pomerantz, SH and Halaban, R. 1987. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. Proc Natl Acad Sci U S A.84(21):7473–7477.

Koybayashi, T, Urabe, K, Winder, A, Jimenez-Cervantes, C, Imokawa, G, Brewington, T, Solano, F, Garcia-Borron, JC, Hearing, VJ. 1994. Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. EMBO J. 13(24), 5818-25.

Mariat, D., Taourit, S. and Guérin, G. 2003. A mutation in the MATP gene causes the cream coat colour in the horse. Genet. Sel. Evol. 35, 119-133.

Marklund L, Moller MJ, Sandberg K, Andersson L. 1996. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat colour in horses. Mamm. Genome 7, 895-899.

Marklund S, Moller MJ, Sandberg K, Andersson L. 1996. Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. Mammalian Genome 10: 283–288. McCann, L.P. 1916. Sorrel color in horses. J. Heredity 7, 370–372.

Metalinos, D.L., Bowling, A.T. and Rine, J. 1998. A misense mutation in the endotheline-B receptor gene is associated with Lethal White Foal syndrome: an equine version of Hirshsprung Disease. Mammalian Genetics 9, 426-431.

Moellmann, G., Slominski, A., Kuklinska, E., Learner, A.B., 1988. Regulation of melanogenesis in melanocyte. Pigment Cell Research 1, 79–87.

Olivares C, Jimenez-Cervantes C, Lozano JA, Solano F, Garcia-Borron JC. 2001. The 5,6-dihydroxyindole-2-carboxylic acid (DHICA) oxidase activity of human tyrosinase. Biochem J. 15, 354(Pt 1), 131-9.

Oetting WS. 2000. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): a model for understanding the molecular biology of melanin formation. Pigm Cell Res 13: 320–325.

Wagner, HJ and Reissmann, M. 2000. New polymorphism detected in the horse MCR1 gene. Animal Genetics 31:289-290.

Wu, X., Bowers, B., Rao, K., Wei, Q., Hammer III, J.A., 1998. Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function in vivo. J. Cell Biol. 143, 1899–1918.

Riley, P.A. 1997. Melanin. International Journal of Biochemistry and Cell Biology 29(11), 1235-9.

Thiruvenkadan, A.K., Kandasamya, N. and Panneerselvama, S. 2008. Coat colour inheritance in horses. Livestock Science 117: 109-129.

Zalfa, A. Abdel-Malek, M. Cathy Scott, Minao Furumura, M. Lynn Lamoreux, Michael Ollmann, Greg S. Barsh and Vincent J. Hearing. 2001. The melanocortin 1 receptor is the principal mediator of the effects of agouti signaling protein on mammalian melanocytes. Journal of Cell Science 114, 1019-1024.

Note: See also the melanin research references.



References and further reading about horse genetics and dilutions


Brunberg E, Andersson L, Cothran G, Sandberg K, Mikko S and Lindgren G. 2006. A missense mutation in PMEL17 is associated with the Silver coat color in the horse. BMC Genetics 7:46.

Du, J. and Fisher, D. E. 2002. Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J. Biol. Chem. 277, 402-406.

Cook, D., Brooks, S., Bellone, R. and Bailey, E. 2008. Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses. PLoS Genet. 4: e1000195. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2535566

Costin GE, Valencia JC, Vieira WD, Lamoreux ML, Hearing VJ. 2003. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite(UW) mutation. A model for oculocutaneous albinism (OCA) type 4. J Cell Sci 116, 3203–3212. Online at http://jcs.biologists.org/cgi/content/full/116/15/3203

Du, J. and Fisher, D. E. 2002. Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF. J. Biol. Chem. 277, 402-406.

Ewart SL, Ramsey DT, Xu J-F, and Meyers DA. 2000. The horse homologue of congenital aniridia conforms to semidominant inheritance. Journal of Heredity 91, 93-98.

Gower, Jeanette. 2000. Horse Colour Explained. A breeders perspective. The Crowood Press. ISBN 1 86126 384 8.

Graf, J., Hodgson, R. and van Daal, A. 2005. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum. Mutat. 25, 278-284.

Mariat, D., Taourit, S. and Guérin, G. 2003. A mutation in the MATP gene causes the cream coat colour in the horse. Genet. Sel. Evol. 35, 119-133.

Mioko Masuda, Junko Tsunoda, Hiroko Nomura, Nami Kimura, Gombojav AltAngerel, Bandi Namkhai, Usukhjargal Dolj and Michinari Yokohama. 2007. New Primitive Marking (Bider) in Mongolian Native Horse and Equus przewalskii. Journal of Equine Science 18 (4): 145-151.

Newton, J.M., Cohen-Barak, O., Hagiwara, N., Gardner, J.M., Davisson, M.T., King, R.A. and Brilliant, M.H. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. American Journal of Human Genetics 69, 981-988.

Ramsey DT, Ewart SL, Render JA, Cook CS, and Latimer CA. 1999. Anterior megalopthalmos and megalocornea of Rocky Mountain Horses. Vet Opthalmol 2, 47-59.

Reissmann, M. Bierwolf, J. and Brockmann, G. A. 2007. Two SNPs in the SILV gene are associated with silver coat colour in ponies. Animal Genetics 38: 1-6.

Note: See also the silver references.



References and further reading about horse genetics, white and white patterns (see also the dominant white references)


Bosher, S. K. and Hallpike, C. S. 1965. Observations on the Histological Features, Development and Pathogenesis of the Inner Ear Degeneration of the Deaf White Cat. Proceedings of the Royal Society of London. Series B, Biological Sciences 162:147-170.

Bowling, Ann. T (1996) Horse Genetics. CAB International. New York, New York.

Brooks, S.A. 2006. Studies of genetic variation at the KIT locus and white spotting patterns in the horse. Ph.D. dissertation, University of Kentucky.

Brooks SA, Bailey E. 2006. Exon skipping in the KIT gene causes a sabino spotting pattern in horses. Mamm Genome 16: 893–902.

Brooks, S., Lear, T., Adelson, D. and Bailey, E. 2007. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenetic and Genome Research, 119(3-4), 225-230.

Camarillo White Horse Association. Accessed 23 February 2009. http://www.camarillowhitehorses.org/history_camarillo_white_horses.html.

Castle, WE. 1954. Coat Color Inheritance in Horses and Other Mammals. Genetics 39:33-44.

Cattanach, B.M., 1999. The Dalmatian dilemma: white coat colour and deafness. J. Small Anim. Pract. 40, 193–200.

Gower, Jeanette. 2000. Horse Colour Explained. A breeders perspective. The Crowood Press. ISBN 1 86126 384 8.

Haase, B., Brooks, SA, Schlumbaum, A., Azor, P.J., Bailey, E., Alaeddine, F., Mevissen, M., Burger, D., Poncet, P., Rieder, S., and Leeb, T. 2007. Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses. PLOS Genetics. http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=2065884&blobtype=pdf

Hintz, HF and van Vleck, LD. 1979. Lethal dominant roan in horses. J Hered 70: 145–146.

Marklund S, Moller MJ, Sandberg K, Andersson L. 1996. Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. Mammalian Genome 10: 283–288.

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

Metalinos, D.L., Bowling, A.T. and Rine, J. 1998. A misense mutation in the endotheline-B receptor gene is associated with Lethal White Foal syndrome: an equine version of Hirshsprung Disease. Mammalian Genetics 9, 426-431.

Pulos, WL and Hutt, FB. 1969. Lethal dominant white in horses. J Hered 60: 59–63.

Rönnstrand, L. 2004. Signal transduction via the stem cell factor receptor/c-Kit. Cell Mol Life Sci 61: 2535–2548.

Roskoski R Jr. 2005. Signaling by Kit protein-tyrosine kinase–the stem cell factor receptor. Biochem Biophys Res Commun 337: 1–13.

Rosengren Pielberg, G., Golovko, A., Sundström, E., Curik, I., Lennartsson, J., Seltenhammer, M.H., 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, C., Sölkner, J., Andersson, L. 2008. A cis-acting regulatory mutation causes premature hair greying and susceptibility to melanoma in the horse. Nature Genetics 40, 1004-1009.

Salisbury, FW. 1941. The Inheritance of Equine Coat Color: The Basic Colors and Patterns. Jour Hered 32:235-240,

Sturtevant AH (1912) A critical examination of recent studies on coat colour inheritance in horses. J Genet 2: 41–51.

Woolf, C.M. 1990. Multifactorial inheritance of common white markings in the Arabian Horse. Journal of Heredity 81, 250-256.

Note: See also the dominant white references. 



References and further reading about horse genetics and appaloosa patterns


Bellone, R.R., Brooks, S.A., Sandmeyer, L., Murphy, B.A., Forsyth, G., Archer, S., Bailey, E. and 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 (Equus caballus). Genetics 179, 1861-1870.

Bowling, Ann. T (1996) Horse Genetics. CAB International. New York, New York.

Castle, WE. 1954. Coat Color Inheritance in Horses and Other Mammals. Genetics 39:33-44.

Cattanach, B.M., 1999. The Dalmatian dilemma: white coat colour and deafness. J. Small Anim. Pract. 40, 193–200.

Gower, Jeanette. 2000. Horse Colour Explained. A breeders perspective. The Crowood Press. ISBN 1 86126 384 8.

Sandmeyer, L.S., Breaux, C.B., Archer, S., Grah, B.H. 2007. Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. Veterinary Ophthalmology 6 (10): 368-375.

Salisbury, FW. 1941. The Inheritance of Equine Coat Color: The Basic Colors and Patterns. Jour Hered 32:235-240.

Sponenberg, D.P., Carr, G., Simak, E., & Schwink, K. (1990) The inheritance of the leopard complex of spotting patterns in horses. The Journal of Heredity 81(4):323-331.

Sponenberg, D.P. (2003) Equine Color Genetics. (2nd ed.) Iowa State University Press, Ames, Iowa.

Sturtevant AH (1912) A critical examination of recent studies on coat colour inheritance in horses. J Genet 2: 41–51.

Terry, R.R., Bailey, E., Bernoco, D., & Cothran, E.G. 2001. Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses. Animal Genetics 32: 98-101.

Terry, R.B., Bailey, E., Lear, T.L., & Cothran, E.G. 2002. Rejection of MITF and evidence against MGF as the genes responsible for appaloosa coat colour spotting patterns in horses. Animal Genetics 33:82-83.

Terry, R.B. Archer, S., Brooks, S., Bernoco, D., & Bailey E. 2004. Assignment of the appaloosa coat color gene (LP) to Equine Chromosome 1. Animal Genetics 35: 134–137.

The Appaloosa project. http://www.appaloosaproject.info/index.php?&MMN_position=6:6 2008. A super website for following developments in appaloosa genetics.

Woolf, C.M. 1990. Multifactorial inheritance of common white markings in the Arabian Horse. Journal of Heredity 81, 250-256.

Note: See also the melanin research references, dominant white references and silver references. There are also a few references regarding the origins of the domestic horse here.






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