Non-frameshift deletion on MITF is associated with a novel splashed white spotting pattern in horses (Equus caballus).

1. Ashkenazy H, Abadi S, Martz E, Chay O, Mayrose I, Pupko T. ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules. Nucleic Acids Research 44, W344-W350.
2. Brooks SA, Bailey E. Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. Mammalian Genome 16, 893-902.
3. Brooks SA, Lear TL, Adelson DL, Bailey E. A chromosome inversion near the KIT gene and the tobiano spotting pattern in horses. Cytogenetic and Genome Research 119, 225-230.
4. Celniker G, Nimrod G, Ashkenazy H, Glaser F, Martz E, Mayrose I. ConSurf: using evolutionary data to raise testable hypotheses about protein function. Israel Journal of Chemistry 53, 199-206.
5. Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS One 7, e46688.
6. Dürig N, Jude R, Holl H, Brooks SA, Lafayette C, Jagannathan V. Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes. Animal Genetics 48, 483-485.
7. Glaser F, Pupko T, Paz I, Bell RE, Bechor-Shental D, Martz E. ConSurf: identification of functional regions in proteins by surface-mapping of phylogenetic information. Bioinformatics 19, 163-164.
8. Haase B, Brooks SA, Schlumbaum A, Azor PJ, Bailey E, Alaeddine F. Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genetics 3, e195.
9. Haase B, Brooks SA, Tozaki T, Burger D, Poncet PA, Rieder S. Seven novel KIT mutations in horses with white coat colour phenotypes. Animal Genetics 40, 623-629.
10. Haase B, Jagannathan V, Rieder S, Leeb T. A novel KIT variant in an Icelandic horse with white-spotted coat colour. Animal Genetics 46, 466.
11. Haase B, Rieder S, Tozaki T, Hasegawa T, Penedo MCT, Jude R. Five novel KIT mutations in horses with white coat colour phenotypes. Animal Genetics 42, 337-339.
12. Hauswirth R, Haase B, Blatter M, Brooks SA, Burger D, Drögemüller C. Mutations in MITF and PAX3 cause “splashed white” and other white spotting phenotypes in horses. PLoS Genetics 8, e1002653.
13. Hauswirth R, Jude R, Haase B, Bellone RR, Archer S, Holl H. Novel variants in the KIT and PAX 3 genes in horses with white-spotted coat colour phenotypes. Animal Genetics 44, 763-765.
14. Henkel J, Lafayette C, Brooks SA, Martin K, Patterson-Rosa L, Cook D. Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness. Animal Genetics 50, 172-174.
15. Holl H, Brooks S, De Bailey E. Novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern. Animal Genetics 41, 196-198.
16. Holl HM, Brooks SA, Carpenter ML, Bustamante CD, Lafayette C. A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes. Animal Genetics 48, 497-498.
17. Howe KL, Achuthan P, Allen J, Allen J, Alvarez-Jarreta J, Amode MR. Ensembl 2021. Nucleic Acids Research 49, D884-D891.
18. Landau M, Mayrose I, Rosenberg Y, Glaser F, Martz E, Pupko T. ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures. Nucleic Acids Research 33, W299-W302.
19. Lin M, Whitmire S, Chen J, Farrel A, Shi X, Guo JT. Effects of short indels on protein structure and function in human genomes. Scientific Reports 7, 9313.
20. Magdesian KG, Tanaka J, Bellone RR. A De novo MITF deletion explains a novel splashed White phenotype in an American paint horse. Journal of Heredity 111, 287-293.
21. Martin K, Vierra M, Foster G, Brooks SA, De Lafayette C. Novo mutation of KIT causes extensive coat white patterning in a family of Berber horses. Animal Genetics 52, 135-137.
22. Metallinos DL, Bowling AT, Rine J. 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, 426-431.
23. Patterson Rosa L, Martin K, Vierra M, Foster G, Lundquist E, Brooks SA. Two variants of KIT causing white patterning in stock-type horses. Journal of Heredity 112, 447-451.
24. Pingault V, Ente D, Dastot-le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Human Mutation 31, 391-406.
25. Pupko T, Bell RE, Mayrose I, Glaser F, Ben-Tal N. Rate4Site: an algorithmic tool for the identification of functional regions in proteins by surface mapping of evolutionary determinants within their homologues. Bioinformatics 18, S71-S77.

Citations

1. Avila F, Hughes SS, Magdesian KG, Penedo MCT, Bellone RR. Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds.. Genes (Basel) 2022 Sep 13;13(9).
   doi: 10.3390/genes13091641pubmed: 36140807google scholar: lookup
2. Patterson Rosa L, Martin K, Vierra M, Lundquist E, Foster G, Brooks SA, Lafayette C. A KIT Variant Associated with Increased White Spotting Epistatic to MC1R Genotype in Horses (Equus caballus).. Animals (Basel) 2022 Aug 2;12(15).
   doi: 10.3390/ani12151958pubmed: 35953947google scholar: lookup