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References

  • Andersson L.S., Juras R., Ramsey D.T., Eason-Butler J., Ewart S., Cothran G. & Lindgren G. (2008) Equine multiple congenital ocular anomalies maps to a 4.9 megabase interval on horse chromosome 6. BMC Genetics 9, 88.
  • Audo I., Kohl S., Leroy B.P. et al. (2009) TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. American Journal of Human Genetics 5, 7209.
  • Bellone R., Lawson S., Hunter N., Archer S. & Bailey E. (2006a) Analysis of a SNP in exon 7 of equine OCA2 and its exclusion as a cause for appaloosa spotting. Animal Genetics 37, 525.
  • Bellone R., Lear T., Adelson D.L. & Bailey E. (2006b) Comparative mapping of oculocutaneous albinism type II (OCA2), transient receptor potential cation channel, subfamily M member 1 (TRPM1) and two equine microsatellites, ASB08 and 1CA43, among four equid species by fluorescence in situ hybridization. Cytogenetic and Genome Research 114, 93A.
  • Bellone R.R., Brooks S.A., Sandmeyer L., Murphy B.A., Forsyth G., Archer S. & 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, 186170.
  • Bellone R.R., Forsyth G., Leeb T. et al. (2010a) Fine-mapping and mutation analysis of TRPM1 a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness (CSNB) in horses. Briefings in Functional Genomics and Proteomics 9, 193207.
  • Bellone R.R., Archer S., Wade C.M., Cuka-Lawson C., Haase B., Leeb T., Forsyth G., Sandmeyer L. & Grahn B. (2010b) Association analysis of candidate SNPs in TRPM1 with leopard complex spotting (LP) and congenital stationary night blindness (CSNB) in horses. Animal Genetics 41, 207.
  • Bowling A.T. (1994) Dominant inheritance of overo spotting in paint horses. Journal of Heredity 85, 2224.
  • Bowling A.T. (1996) Medical genetics. Horse Genetics, pp. 1056. CABI International, Wallingford, UK.
  • Brooks S.A. & Bailey E. (2005) Exon skipping in the KIT gene causes a sabino spotting pattern in horses. Mammalian Genome 11, 8939.
  • Brooks S., Lear T.L., Adelson D. & Bailey E. (2007) A chromosome inversion near the KIT gene and the tobiano spotting pattern in horses. Cytogenetic and Genome Research 119, 22530.
  • Brooks S.A., Gabreski N., Miller D., Brisbin A., Brown H.E., Streeter C., Mezey J., Cook D. & Antczak D. (2010) Whole genome SNP association in the horse: identification of a deletion in myosin Va responsible for lavender foal syndrome. PLoS Genetics 6, e1000909. doi:10.1371/journal.pgen.1000909
  • Brudnik U., Branicki W., Wojas-Pelc A. & Kanas P. (2009) The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. Experimental Dermatology 18, 16774.
  • Brunberg E., Andersson L., Cothran G., Sandberg K., Mikko S. & Lindgren G. (2006) A missense mutation in PMEL17 is associated with the silver coat color in the horse. BMC Genetics 7, 46. doi:10.1186/1471-2156-7-46
  • Cook D., Brooks S., Bellone R. & Bailey E. (2008) Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses. PLoS Genetics 4, e1000195. doi:10.1371/journal.pgen.1000195.
  • Dausch D., Wegner W., Michaelis W. & Reetz I. (1978) Eye changes in the merle syndrome in the dog. Albrecht von Graefes Archiv fur klinische und experimentelle. Ophtalmologie 206, 13550.
  • Duncan L.M., Deeds J., Hunter J., Shao J., Homgren L.M., Woolf E.A., Tepper R.I. & Shyjan A.W. (1998) Down-regulation of the novel gene melanstatin correlates with potential for melanoma metastasis. Cancer Research 58, 151520.
  • Ewart S.L., Ramsey D.T., Xu J. & Meyers D. (2000) The horse homolog of congenital anisidia conforms to codominant inheritance. Journal of Heredity 91, 938.
  • Fanelli H.H. (2005) Coat colour dilution lethal (‘lavender foal syndrome’): a tetany syndrome of Arabian 5 foals. Equine Veterinary Education 17, 2603.
  • Fargnoli M.C., Altobelli E., Keller G., Chimenti S., Höfler H. & Peris K. (2006) Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study. Melanoma Research 16, 17582.
  • Fernandez L.P., Milne R.L., Pita G. et al. (2009) Pigmentation-related genes and their implication in malignant melanoma susceptibility. Experimental Dermatology 18, 63442.
  • Geigy C.A., Heid S., Steffen F., Danielson K., Jaggy A. & Gaillard C. (2007) Does a pleiotropic gene explain deafness and blue irises in white cats? Veterinary Journal 173, 54853.
  • Gelatt K.N., Powell N.G. & Huston K. (1981) Inheritance of microphthalmia with coloboma in the Australian shepherd dog. American Journal of Veterinary Research 42, 168690.
  • Van Genderen M.M., Bijveld M.M.C., Claassen Y.B. et al. (2009) Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. American Journal of Human Genetics 85, 7306.
  • Goda Y. (2008) Neuroscience: along memory lane. Nature 456, 5901.
  • Grahn B.H., Pinard C., Archer S., Bellone R., Forsyth G. & Sandmeyer L.S. (2008) Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in Canada. Canadian Veterinary Journal 49, 67581.
  • Haase B., Brooks S.A., Schlumbaum A. et al. (2007) Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genetics 3, e195.
  • Henner J., Poncet P.A., Guérin G., Hagger C., Stranzinger G. & Rieder S. (2002) Genetic mapping of the (G)-locus, responsible for the coat color phenotype “progressive greying with age” in horses (Equus caballus). Mammalian Genome 13, 5357.
  • Hoashi T., Watabe H., Muller J., Yamaguchi Y., Vieira W.D. & Hearing V.J. (2005) MART-1 is required for the function of the melanosomal matrix protein Pmel17/gp100 and the maturation of melanosomes. Journal of Biological Chemistry 280, 1400616.
  • Horváth G., Blahó M., Kriska G., Hegedüs R., Gerics B., Farkas R. & Akesson S. (2010) An unexpected advantage of whiteness in horses: the most horsefly-proof horse has a depolarizing white coat. Proceedings of the Royal Biological Sciences Society doi:10.1098/rspb.2009.2202
  • Hosoda K., Hammer R.E., Richardson J.A., Baynash A.G., Cheung J.C., Giaid A. & Yanagisawa M. (1994) Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79, 126776.
  • Hultgren B.D. (1982) Ileocolonic aganglionosis in white progeny of overo spotted horses. Journal of the American Veterinary Medical Association 180, 28992.
  • Imamura F., Arimoto I., Fujiyoshi Y. & Doi T. (2000) W276 mutation in the endothelin receptor subtype B impairs Gq coupling but not Gi or Go coupling. Biochemistry 2000(39), 68692.
  • Johnson P.J. (1998) Dermatologic tumors (excluding sarcoids). Veterinary Clinics of North America: Equine Practice 14, 64358.
  • Lapp R.A. & Carr G. (1998) Applied appaloosa color genetics. Appaloosa Journal 52, 1135.
  • Le Douarin N.M. & Kalcheim C. (1999) The Neural Crest. Cambridge University Press, Cambridge, UK.
  • Li Z., Sergouniotis P.I., Michaelides M., Mackay D.S., Wright G.A., Devery S., Moore A.T., Holder G.E., Robson A.G. & Webster A.R. (2009) Recessive mutations of the gene TRPM1 abrogate ON biopolar cell function and cause complete congenital stationary night blindness in humans. American Journal of Human Genetics 85, 7119.
  • Locke M.M., Penedo M.C., Bricker S.J., Millon L.V. & Murray J.D. (2002) Linkage of the grey coat colour locus to microsatellites on horse chromosome 25. Animal Genetics 33, 32937.
  • Ludwig A., Pruvost M., Reissmann M. et al. (2009) Coat color variation at the beginning of horse domestication. Science 324, 485.
  • MacGillivray K.C., Sweeney R.W. & Del Piero F. (2002) Metastatic melanoma in horses. Journal of Veterinary Internal Medicine 16, 4526.
  • Magdesian K.G., Williams D.C., Aleman M., Lecouteur R.A. & Madigan J.E. (2009) Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype. Journal of American Veterinary Medical Association 235, 120411.
  • Mariat D., Taourit S. & Gue′rin G. (2003) A mutation in the MATP gene causes the cream coat colour in the horse. Genetics Selection Evolution 35, 11933.
  • Marklund L., Moller M.J., Sandberg K. & Andersson L. (1996) A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Mammalian Genome 7, 8959.
  • Marks M.S. & Seabra M.C. (2001) The melanosome: membrane dynamics in black and white. Nature Reviews Molecular Cell Biology 2, 73848.
  • Matsushima Y., Shinkai Y., Kobayashi Y., Sakamoto M., Kunieda T. & Tachibana M. (2002) A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. Mammalian Genome 13, 305.
  • McCabe L., Griffin L., Kinzer A., Chandler M., Beckwith J. & McCabe E.R. (1990) Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung Disease). American Journal of Medical Genetics 36, 33640.
  • McCallion A.S. & Chakravarti A. (2001) EDNRB/EDN3 and Hirschsprung disease type II Pigment. Cell Research 14, 1619.
  • Metallinos D.L., Bowling A.T. & Rine J. (1998) A missense mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome: an equine version of Hirschsprung Disease. Mammalian Genome 9, 42631.
  • Miller R.W. (1965) Appaloosa Coat Color Inheritance. Animal Science Department, Montana State University, Bozeman, Montana.
  • Nakanishi S., Nakajima Y., Masu M., Ueda Y., Nakahara K., Watanabe D., Yamaguchi S., Kawabata S. & Okada M. (1998) Glutamate receptors: brain function and signal transduction. Brain Research Reviews 26, 2305.
  • Nomura A., Shigemoto R., Nakamura Y., Okamoto N., Mizuno N. & Nakanishi S. (1994) Developmentally regulated postsynaptic localization of a metabotropic glutamate receptor in rat rod biopolar cells. Cell 77, 3619.
  • Oancea E., Vriens J., Brauchi S., Jun J., Splawski I. & Clapham D.E. (2009) TRPM1 forms ion channels associated with melanin content in melanocytes. Science Signalling 2, ra21.
  • Pielberg G., Mikko S., Sandberg K. & Andersson L. (2005) Comparative linkage mapping of the grey coat colour gene in horses. Animal Genetics 36, 3905.
  • Pielberg G.R., Golovko A., Sundstrom E. et al. (2008) A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse. Nature Genetics 40, 10049.
  • Pla P. & Larue L. (2003) Involvement of endothelin receptors in normal and pathological development of neural crest cells. International Journal of Developmental Biology 47, 31525.
  • Price E.R. & Fisher D.E. (2001) Sensorineural deafness and pigmentation genes: melanocytes and the Mitf Transcriptional Network. Neuron 30, 158.
  • Puffenberger E.G., Hosoda K., Washington S.S., Nakao K., DeWit D., Yanagisawa M. & Chakravart A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung’s disease. Cell 79, 125766.
  • Ramsey D.T., Ewart S.L., Render J.A., Cook C.S. & Latimer C.A. (1999) Congenital ocular abnormalities of Rocky Mountain Horses. Veterinary Ophthalmology 2, 4759.
  • Reid K., Turnley A.M., Maxwell G.D., Kurihara Y., Kurihara H., Bartlett P.F. & Murphy M. (1996) Multiple roles for endothelin in melanocyte development: regulation of progenitor number and stimulation of differentiation. Development 122, 39119.
  • Reissmann M., Bierwolf J. & Brockmann G.A. (2007) Two SNPs in the SILV gene are associated with silver coat colour in ponies. Animal Genetics 38, 16.
  • Rieder S. (2009) Molecular tests for coat colours in horses. Journal of Animal Breeding and Genetics 126, 41524.
  • Rieder S., Stricker C., Joerg H., Dummer R. & Stranzinger G. (2000) A comparative genetic approach for the investigation of ageing grey horse melanoma. Journal of Animal Breeding and Genetics 117, 7382.
  • Rieder S., Taourit S., Mariat D., Langlois B. & Gue′rin G. (2001) Mutations in the agouti (ASIP), the extension (MC1R),and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus). Mammalian Genome 12, 4505.
  • Sandmeyer L., Breaux C.B., Archer S. & Grahn B.H. (2007) Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. Veterinary Ophthalmology 10, 36875.
  • Santschi E.M., Purdy A.K., Valberg S.J., Vrotsos P.D., Kaese H. & Mickelson J.R. (1998) Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mammalian Genome 9, 3069.
  • Santschi E.M., Vrotsos P.D., Purdy A.K. & Mickelson J.R. (2001) Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses. American Journal of Veterinary Research 62, 97103.
  • Schott H.C., Major M.D., Grant B.D. & Bayly W.M. (1990) Melanoma as a cause of spinal cord compression in two horses. Journal of the American Veterinary Medical Association 196, 18202.
  • Schubert G. & Bornshein H. (1952) Beitrag zur A lyse des menschlichen Electroretinogram. Ophthalmolgica 123, 396413.
  • Seltenhammer M.H., Simhofer H., Scherzer S., Zechner R., Curik I., Sölkner J., Brandt S.M., Jansen B., Pehamberger H. & Eisenmenger E. (2003) Equine melanoma in a population of 296 grey Lipizzaner horses. Equine Veterinary Journal 35, 1537.
  • Seltenhammer M.H., Heere-Ress E., Brandt S., Druml T., Jansen B., Pehamberger H. & Niebauer G.W. (2004) Comparative histopathology of grey-horse-melanoma and human malignant melanoma. Pigment Cell Research 17, 67481.
  • Shen Y., Heimel J.A., Kamermans M., Peachey N.S., Gregg R.G. & Nawy S.A. (2009) Transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells. Journal of Neuroscience 29, 608893.
  • Sponenberg D.P. (2009) Equine Color Genetics, 3rd edn. Iowa State University Press, Ames, IA.
  • 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, 32331.
  • Sponenberg D.P., Archer S. & Bellone R. (2009) Patters of white with symmetric white patches: the leopard complex. In: Sponenberg DP Equine Color Genetics, 3rd edn. pp. 11020. Iowa State University Press, Ames, IA.
  • Steingrímsson E., Copeland N.G. & Jenkins N.A. (2006) Mice coat color mutations: from fancy mice to functional genomics. Developmental Dynamics 235, 240111.
  • Strain G.M., Clark L.A., Wahl J.M., Turner A.E. & Murphy K.E. (2009) Prevalence of deafness in dogs heterozygous or homozygous for the merle allele. Journal of Veterinary Internal Medicine 23, 2826.
  • Stratigos A.J., Dimisianos G., Nikolaou V. et al. (2006) Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population. Journal of Investigative Dermatology 126, 18429.
  • Sutton R.H. & Coleman G.T. (1997) Melanoma and the Graying Horse. RIRDC Research Paper series, pp. 134. Barton, Australia.
  • Swinburne J.E., Hopkins A. & Binns M.M. (2002) Assignment of the horse grey coat colour gene to ECA25 using whole genome scanning. Animal Genetics 33, 33842.
  • Terry R.B., Archer S., Brooks S., Bernoco D. & Bailey E. (2004) Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1. Animal Genetics 35, 1347.
  • Valentine B.A. (1995) Equine melanocytic tumors: a retrospective study of 53 horses (1988 to 1991). Journal of Veterinary Internal Medicine 9, 2917.
  • Wade C.M., Giulotto E., Sigurdsson S. et al. (2009) Genome sequence, comparative analysis and population genetics of the domestic horse (Equus caballus). Science 326, 8657.
  • Witzel D.A., Joyce J.R. & Smith E.L. (1977) Electroretinography of congenital night blindness in an Appaloosa filly. Journal of Equine Medical Surgery 1, 2269.
  • Witzel D.A., Smith E.L., Wilson R.D. & Aguirre G.D. (1978) Congenital stationary night blindness: an animal model. Investigative. Ophthalmolology and Visual. Science 117, 78893.
  • Yang G.C., Croaker D., Zhang A.L., Manglick P., Cartmill T. & Cass D. (1998) A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS) – a horse variant of Hirschsprung-disease (HSCR). Human Molecular Genetics 7, 104752.
  • Yasumoto K., Watabe H., Valencia J.C., Kushimoto T., Kobayashi T., Appella E. & Hearing V.J. (2004) Epitope mapping of the melanosomal matrix protein gp100 (PMEL17). Journal of Biological Chemistry 279, 283308.