Mutations in the agouti (ASIP), the extension (MCIR), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus)

Mammalian Genome

Volumn 12, Issue 6, 2001, Pages 450-455

  Rieder, Stefan ^a   Taourit, Sead ^a   Mariat, Denis ^a   Langlois, Bertrand ^a   Guérin, Gérard ^a  

^a Institut National de la Recherche Agronomique   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AGOUTI PROTEIN; DNA; MELANOCORTIN 1 RECEPTOR; METHIONINE; THREONINE; TYROSINASE RELATED PROTEIN 1;

3' UNTRANSLATED REGION; AMINO ACID SEQUENCE; ANIMAL TISSUE; CONFERENCE PAPER; CONTROLLED STUDY; EXON; GENE MUTATION; GENE SEGREGATION; HAIR COLOR; HORSE; INTRON; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

3' UNTRANSLATED REGIONS; 5' UNTRANSLATED REGIONS; ALLELES; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CELL ADHESION MOLECULES; CLONING, MOLECULAR; COLOR; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GENOTYPE; HELMINTH PROTEINS; HORSES; INTRONS; MEMBRANE GLYCOPROTEINS; METHIONINE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTORS, PITUITARY HORMONE; SEQUENCE ANALYSIS, DNA; THREONINE;

EID: 0035008008     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003350020017     Document Type: Conference Paper

References (43)

1. Adalsteinsson S, Thorkelsson F (1991) Islenski hesturinn, Litaafbrigdi (The Icelandic Horse and its Colours). Félagsbokbandid-Bokfell hf: Islandsmyndir hf.
2. Barsh GS (1996) The genetics of pigmentation: from fancy genes to complex traits. Trends Genet 12, 299-305
3. Bultman SJ, Michaud EJ, Woychik RP (1992) Molecular characterization of the mouse agouti locus. Cell 71, 1195-1204
4. Caetano AR, Shiue YL, Lyons LA, O'Brien SJ, Laughlin TF et al. (1999) A comparative gene map of the horse (Equus caballus). Genome Res 9, 1239-1249
5. Devereux J, Haeberli P, Smithies O (1984) A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res 1, 387-395
6. Dreux Ph (1966) Contribution à l'étude du gène E chez le cheval domestique. Extrait Ann Génét 9, 168-170
7. Eberle AN (1988) The Melanotropins. (Basel, Switzerland: Verlag Karger)
8. Evans WJ, Borton A, Hintz H, Van Vleck LD (1990) The Horse, 2nd ed. (New York, NY, USA: W.H. Freeman and Co.)
9. Godard S, Schibler L, Oustry A, Cribiu EP, Guérin G (1998) Construction of a horse BAC library and cytogenetical assignment of 20 type I and type II markers. Mamm Genome 9, 633-637
10. Godard S, Vaiman A, Schibler L, Mariat D, Vaiman D et al. (2000) Cytogenetic localization of 44 new type I sequences in the horse. Mamm Genome 11, 1093-1097
11. Hayes H (1995) Chromosome painting with human chromosome-specific DNA libraries reveals the extent and distribution of conserved segments in bovine chromosomes. Cytogenet Cell Genet 71, 168-174
12. Jackson IJ (1994) Molecular and developmental genetics of mouse coat color. Annu Rev Genet 28, 189-217
13. Jackson IJ, Budd P, Horn JM, Johnson R, Raymond S, Steel K (1994) Genetics and molecular biology of mouse pigmentation. Pigment Cell Res 7, 73-80
14. B-w) is a dominant mutation causing reduced hair pigmentation owing to a chromosomal inversion. Mamm Genome 9, 469-471
15. Joerg H, Fries HR, Meijerink E, Stranzinger GF (1996) Red coat color in Holstein cattle is associated with a deletion in the MSHR gene. Mamm Genome 7, 317-318
16. Johnson R, Jackson IJ (1992) Light is a dominant mouse mutation resulting in premature cell death. Nat Genet 1, 226-229
17. Kijas JMH, Wales R, Törnsten A, Chardon P, Moller M, Anderson L (1998) Melanocortin receptor I (MC1R) mutations and coat color in pigs. Genetics 150, 1177-1185
18. Klungland H, Vage DI, Gomez-Raya L, Adalsteinsson S, Lien S (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. Mamm Genome 6, 636-639
19. Kwon BS (1993) Pigmentation genes: the tyrosinase gene family and the pmel 17 gene family. T J Investig Dermatol 100, 134S-140S
20. Lee ZH, Hou L, Moellmann G, Kuklinska E, Antol K et al. (1996) Characterization and subcellular localization of human Pmel 17/silver, a 100- kDa (Pre)melanosomal membrane protein associated with 5,6,- dihydroxyindole-2-carboxylic acid (DHICA) convening activity. T J Investig Dermatol 106, 605-610
21. Lu D, Willard D, Patel IR, Kadwell S, Overton L et al. (1994) Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor. Nature 371, 799-802
22. Marklund S, 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 color in horses. Mamm Genome 7, 895-899
23. Marklund S, Moller M, Sandberg K, Anderson L (1999) Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. Mamm Genome 10, 283-288
24. Moller MJ, Chaudhary R, Hellmén E, Höyheim B, Chowdhary B, Anderson L (1996) Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor. Mamm Genome 7, 822-830
25. Newton JM, Wilkie AL, He L, Jordan SA, Metallinos DL et al. (2000) Melanocortin 1 receptor variation in the domestic dog. Mamm Genome 11, 24-30
26. Rana BK, Hewett-Emmett D, Jin L, Chang BHJ, Sambuughin N et al. (1999) High polymorphism at the human melanocortin 1 receptor locus. Genetics 151, 1547-1557
27. Raudsepp T, Frönicke L, Scherthan H, Gustavsson I, Chowdhary BP (1996) Zoo-FISH delineates conserved chromosomal segments in horse and man. Chromosome Res 4, 1-8
28. Rieder S, Stricker Ch, Joerg H, Dummer R, Stranzinger G (2000) A comparative genetic approach for the investigation of aging grey horse melanoma. J Anim Breed Genet 117, 73-82
29. Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L et al. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72, 827-834
30. Rudolph JA, Spie SJ, Byrns G, Rojas CV, Bernoco D, Hoffman EP (1992) Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding. Nat Genet 2, 144-147
31. Santschi EM, Purdy AK, Valberg SJ, Vrotsos PD, Kaese H, Mickelson JR (1998) Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mamm Genome 9, 306-309
32. Schibler L, Cribiu EP, Oustry-Vaiman A, Furet JP, Vaiman D (2000) Fine mapping suggests that the goat polled intersex syndrome and the human blepharophimosis ptosis epicanthus syndrome map to a 100-kb homologous region. Genome Res 10, 311-318
33. Searle AG (1968) Comparative Genetics of Coat Colour in Mammals. (London: Logos Press)
34. Siracusa LD (1994) The agouti gene: turned on to yellow. Trends Genet 10, 423-428
35. Sponenberg DP (1996) Equine color genetics. (Ames, Iowa USA; Iowa State University Press)
36. Sponenberg DP, Weise MC (1997) Dominant black in horses. Genet Sel Evol 29, 403-408
37. Sturm RA, O'Sullivan BJ, Box NF, Smith AG, Smit SE et al. (1995) Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. Genomics 29, 24-34
38. Terwilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56, 777-787
39. Vage DI, Lu DS, Klungland H, Lien S, Adalsteinson S, Cone RD (1997) A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes. Nat Genet 15, 311-315
40. Vage DI, Klungland H, Lu D, Cone RD (1999) Molecular and pharmacological characterization of dominant black coat color in sheep. Mamm Genome 10, 39-43
41. Wagner HJ, Reissmann M (2000) New polymorphism detected in the horse MC1R gene. Anim Genet 31, 289-290
42. Wagoner DM (1978) Equine Genetics and Selection Procedures. (Tyler, USA: Equine Research Incorporation)
43. Zdarsky E, Favor J, Jackson IJ ( 1990) The molecular basis of brown, an old mouse mutation, and of a revertant to wild-type. Genetics 126, 443-449