MITF and white spotting in dogs: A population study

Journal of Heredity

Volumn 100, Issue , 2009, Pages S66-S74

  Schmutz, Sheila M ^a   Berryere, Tom G ^a   Dreger, Dayna L ^a  

^a UNIVERSITY OF SASKATCHEWAN   (Canada)

Author keywords

CFA20; Coat color; Irish spotting; Microphthalmia associated transcription factor; Piebald; White spotting

Indexed keywords

CANIS FAMILIARIS;

EID: 78149427289     PISSN: 00221503     EISSN: 14657333     Source Type: Journal    
DOI: 10.1093/jhered/esp029     Document Type: Article

References (35)

1. Amae S, Fuse N, Yasumoto KI, Sato S, Yajima I, Yamamoto H, Udono T, Durlu TK, Tamai M, Takahashi K, et al. 1998. Identification of a novel isoform of microphthalmia-associated transciption factor that is enriched in retinal pigment epithelium. Biochem Biophys Res Commun. 247: 710-715.
2. Barsh GS. 2007. How the dog got its spots. Nat Genet. 39:1304-1306.
3. Berryere TG, Schmutz SM, Schimpf RJ, Cowan CM, Potter J. 2003. TYRP1 is associated with dun coat colour in Dexter cattle or how no w brown cow? Anim Genet. 34:169-175.
4. Bharti K, Minh-Thanh T, Skuntz S, Bertuzzi S, Arnheiter H. 2006. The other pigment cell: specification and development of the pigmented epithelium of the vertebrate eye. Pigment Cell Res. 19:380-394.
5. Bismuth K, Maric D, Arnheiter H. 2007. MITF and cell proliferation: The role of alternative splice forms. Pigment Cell Res. 18:349-359.
6. Bismuth K, Skuntz S, Hallsson JH, Pak E, Dutra AS, Steingrímsson E, Arnheiter H. 2008. An unstable targeted allele of the mouse Mitf gene with a high somatic and germline reversion rate. Genetics. 178:259-272.
7. Brenig B, Pfeiffer I, Jaggy A, Kathmann I, Balzari M, Gaillard C, Dolf G. 2003. Analysis of the 5# region of the canine PAX3 gene and exclusion as candidate for Dalmation deafness. Anim Genet. 34:47-50.
8. Clark LA, Wahl JM, Rees CA, Murphy KE. 2006. Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci U S A. 103:1376-1381.
9. Clark LA, Wahl JM, Rees CA, Strain GM, Cargill EJ, Vanderlip SL, Murphy KE. 2008. Canine SINEs and their effects on phenotypes of the domestic dog. In: Gustafson JP, Taylor J, Stacey G, editors. Genomics of disease. New York: Springer Science & Business Media. p. 79-88.
10. Goding CR. 2000. Mitf from neural crest to melanoma: signal transduction and transcription in the melanocyte lineage. Genes Dev. 14:1712-28.
11. Hemesath TJ, Steingrímsson E, McGill G, Hansen MJ, Vaught J, Hodgkinson CA, Arnheiter H, Copeland NG, Jenkins NA, Fisher DD. 1994. Microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family. Genes Dev. 15:2770-2780.
12. Hodgkinson CA, Moore KJ, Nakayama A, Steingrímsson E, Copeland NG, Jenkins NA, Arnheiter H. 1993. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helixloop- helix-zipper protein. Cell. 74:395-404.
13. Hughes MJ, Lingrel JB, Krakowsky JM, Anderson KP. 1993. A helix-loophelix transcription factor-like gene is located at the mi locus. J Biol Chem. 268:20687-20690.
14. Karlsson EK, Baranowska I, Wade CM, Salmon Hillbertz NHC, Zody MC, Anderson N, Biagi TM, Patterson N, Rosengren Pielberg G, Kulbokas EJ III, et al. 2007. Efficient mapping of Mendelian traits in dogs through genome-wide association. Nat Genet. 39:1321-1328.
15. Leegwater PA, van Hagen MA, van Oost BA. 2007. Localization of white spotting locus in boxer dogs on CFA20 by genome-wide linkage analysis with 1500 SNPs. J Heredity. (Special Supplement 98):549-552.
16. Lin L, Faraco J, Li R, Kadotani H, Rogers W, Lin X, Qiu X, de Jong PJ, Nishino S, Mignot E. 1999. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell. 98:365-376.
17. Lin J, Fisher DE. 2007. Mela nocyte biology and skin pigmentation. Nature. 444:843-850.
18. Little CC. 1957. The inheritance of coat color in dogs. New York: Howell Book House.
19. Metallinos D, Rine J. 2000. Exclusion of EDNRB and KIT as the basis for white spotting in border collies. Genome Biol. http://www.genomebiology.com/2000/1/2/research/0004/.
20. Moore KJ. 1995. Insight into the microphthalmia gene. Trends Genet. 11:442-448.
21. Pape H. 1990. The inheritance of the piebald spotting pattern and its variation in Holstein-Friesian cattle and in Landseer-Newfoundland dogs. Genetics. 80:115-128.
22. Parker HG, Kim LV, Sutter NB, Carlson S, Lorentzen TD, Malek TB, Johnson GS, DeFrance HB, Ostrander EA, Kruglyak L. 2004. Genetic structure of the purebred domestic dog. Science. 304:1160-1164.
23. Pelé M, Tiret L, Kessler JL, Blot S, Panthier JJ. 2005. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet. 14:1417-1427.
24. Rothschild MF, Van Cleave PS, Carlstrom LP, Glenn KL, Ellinwood NM. 2006. Association of MITF with white spotting in Beagle crossed dogs and Newfoundland dogs. Anim Genet. 37:606-607.
25. Schmutz SM, Berryere TG, Goldfinch AD. 2002. TYRP1 and MC1r genotypes and their effects on coat color in dogs. Mamm Genome. 13:380-387.
26. Schmutz SM, Berryere TG. 2007. A review of the genes affecting coat color and pattern in domestic dogs. Anim Genet. 38:539-549.
27. Stanchina L, Baral V, Robert F, Pingault V, Lemort N, Pachnis V, Goossens M, Bondurand N. 2006. Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. Dev Biol. 295:232-249.
28. Steingrímsson E, Moore KJ, Lamoreux ML, Ferré-D'Amaré AR, Burley SK, Zimring DCS, Skow LC, Hodgkinson CA, Arnheiter H, Copeland NG, et al. 1994. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nature. 8:256-263.
29. Tsuchida S, Takizawa T, Abe K, Okamoto M, Tagawa M. 2008. Identification of microphthalmia-associated transcription factor isoforms in dogs. Vet J. doi:10.1016/jitujl.2008.06.004.
30. Vogan KJ, Epstein DJ, Trasler DG, Gros P. 1993. The splotch-delayed (Spd) mouse mutant carries a point mutation within the paired box of the Pax-3 gene. Genomics. 17:364-369.
31. Wang W, Kirkness EF. 2005. Short interspersed elements (SINEs) are a major source of canine genomic diversity. Genome Res. 15:1798-1808.
32. Watanabe K, Takeda K, Yasumoto K, Udono T, Saito H, Ikeda K, Takasaka T, Takahashi K, Kobayashi T, Tachibana M, et al. 2002. Identification of a distal enhancer for the melanocyte-specific promoter of the MITF gene. Pigment Cell Res. 15:201-211.
33. Winge O. 1950. Inheritance in dogs with special reference to the hunting breeds. Ithaca (NY): Comstock Publishing.
34. Yajima I, Endo K, Sato S, Toyoda R, Wada H, Shibahara S, Numakunai T, Ikeo K, Gojobori T, Goding CR, et al. 2003. Cloning and functional analysis of ascidian Mitf in vivo: insights into the origin of vertebrate pigment cells. Mech Dev. 120:1489-1504.
35. Yasumoto K, Amae S, Udono T, Fuse N, Takeda K, Shibahara S. 1998. A big gene linked to small eyes encodes multiple Mitf isoforms: many promoters make light work. Pigment Cell Res. 11:329-336.