The Colors of Life

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Scientific Articles Used as Reference for Horse Color Genetics

Appaloosa Spotting (Leopard Complex or LP)

Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns (LP) in the Appaloosa Horse (Equus caballus) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2516064/

Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses http://bfg.oxfordjournals.org/content/9/3/193.abstract

Champagne

Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2535566/

Coat Color and Domestication

Coat Color Variation at the Beginning of Horse Domestication http://www.sciencemag.org/content/324/5926/485.full

Cream

A mutation in the MATP gene causes the cream coat colour in the horse. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732686/pdf/1297-9686-35-1-1...

The cream dilution gene, responsible for the palomino and buckskin coat colours, maps to horse chromosome 21. http://www.ncbi.nlm.nih.gov/pubmed/11736803

Extension

A missense mutation in the gene for melanocyte-stimulating hormone receptor (MCIR) is associated with the chestnut coat color in horses

Identification of horse chestnut coat color genotype using SNaPshot® (contains some information on the alternative chestnut allele ea) http://www.biomedcentral.com/content/pdf/1756-0500-2-255.pdf

Gray

A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the horse http://www.nature.com/ng/journal/v40/n8/abs/ng.185.html

Kit Gene Mutations (White Patterns)

Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2065884/

Equine KIT Gene Mutations (Not published to a scientific journal but a very good reference none-the-less.) This article is offline. I hope to get permission to republish it soon.

Close association between sequence polymorphism in the KIT gene and the roan coat color in horses

Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. http://www.ncbi.nlm.nih.gov/pubmed/16284805

An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds.

De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern

Five novel KIT mutations in horses with white coat colour phenotypes

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

 

Lavender Foal Syndrome

Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1000909

Lethal White (Frame)

Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses. http://www.ncbi.nlm.nih.gov/pubmed/11197568

Splashed White

Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1002653

Silver

A missense mutation in PMEL17 is associated with the Silver coat color in the horse http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1617113/ Multiple congenital ocular anomalies in Icelandic horses http://www.biomedcentral.com/1746-6148/7/21

Relationship between Extension and Expression of White Spotting

Common White Facial Markings in Bay and Chestnut Arabian Horses and Their Hybrids http://jhered.oxfordjournals.org/content/82/2/167.long Many people on the http://colorgenetics.info/forum were involved in the creation of this list. I would like to thank everyone who helped compile it.