Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes

Animal Genetics

Volumn 44, Issue 6, 2013, Pages 763-765

  Hauswirth, Regula ^a   Jude, Rony ^b   Haase, Bianca ^a,c   Bellone, Rebecca R ^d   Archer, Sheila ^e   Holl, Heather ^f   Brooks, Samantha A ^f   Tozaki, Teruaki ^g   Penedo, Maria Cecilia T ^h   Rieder, Stefan ⁱ   Leeb, Tosso ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b Certagen GmbH   (Germany)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY OF TAMPA   (United States)

^e Quill Lake   (Canada)

^f Department of Obstetrics Gynecology   (United States)

^g LABORATORY OF RACING CHEMISTRY   (Japan)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ Swiss National Stud Farm   (Switzerland)

Author keywords

Equus caballus; leucism; melanocyte; piebaldism; pigmentation; white spotting

Indexed keywords

ANIMALIA; EQUIDAE; EQUUS CABALLUS; FELIDAE; PANTHERA PARDUS;

PAIRED BOX TRANSCRIPTION FACTOR; STEM CELL FACTOR RECEPTOR;

ANIMAL; ARTICLE; DOMESTIC HORSE; GENETICS; HAIR; HORSE; LEUCISM; MELANOCYTE; MISSENSE MUTATION; PHENOTYPE; PHYSIOLOGY; PIEBALDISM; PIGMENTATION; WHITE SPOTTING;

EQUUS CABALLUS; LEUCISM; MELANOCYTE; PIEBALDISM; PIGMENTATION; WHITE SPOTTING;

ANIMALS; HAIR; HORSES; MUTATION, MISSENSE; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; PIGMENTATION; PROTO-ONCOGENE PROTEINS C-KIT;

EID: 84886951640     PISSN: 02689146     EISSN: 13652052     Source Type: Journal    
DOI: 10.1111/age.12057     Document Type: Article

References (14)

1. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., &, Sunyaev S.R., (2010) A method and server for predicting damaging missense mutations. Nature Methods 7, 248-9.
2. Bellone R.R., Forsyth G., Leeb T., et al,. (2010) Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses. Briefings in Functional Genomics 9, 193-207.
3. Brooks S.A., &, Bailey E., (2005) Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. Mammalian Genome 16, 893-902.
4. Brooks S.A., Lear T.L., Adelson D.L., &, Bailey E., (2007) A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenetic & Genome Research 119, 225-30.
5. Ferrer-Costa C., Gelpí J.L., Zamakola L., Parraga I., de la Cruz X., &, Orozco M., (2005) pmut: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21, 3176-8.
6. 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.
7. Haase B., Jude R., Brooks S.A., &, Leeb T., (2008) An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds. Animal Genetics 39, 306-9.
8. Haase B., Brooks S.A., Tozaki T., Burger D., Poncet P.-A., Rieder S., Hasegawa T., Penedo C., &, Leeb T., (2009) Seven novel KIT mutations in horses with white coat colour phenotypes. Animal Genetics 40, 623-9.
9. Haase B., Rieder S., Tozaki T., Hasegawa T., Penedo M.C., Jude R., &, Leeb T., (2011) Five novel KIT mutations in horses with white coat colour phenotypes. Animal Genetics 42, 337-9.
10. Hauswirth R., Haase B., Blatter M., et al,. (2012) Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. PLoS Genetics 8, e1002653.
11. Holl H., Brooks S., &, Bailey E., (2010) De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern Animal Genetics 41 (Suppl 2), 196-8.
12. Pingault V., Ente D., Dastot-Le Moal F., Goossens M., Marlin S., &, Bondurand N., (2010) Review and update of mutations causing Waardenburg syndrome. Human Mutation 31, 391-406.
13. 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, 306-9.
14. Thomas A.J., &, Erickson C.A., (2008) The making of a melanocyte: the specification of melanoblasts from the neural crest. Pigment Cell & Melanoma Research 21, 598-610.