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Semin Cell Dev Biol. 2013 Jun-Jul;24(6-7):576-86. doi: 10.1016/j.semcdb.2013.03.014. Epub 2013 Apr 9.

Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.

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Humboldt University Berlin, Department for Crop and Animal Sciences, Berlin, Germany.


The characterisation of the pleiotropic effects of coat colour-associated mutations in mammals illustrates that sensory organs and nerves are particularly affected by disorders because of the shared origin of melanocytes and neurocytes in the neural crest; e.g. the eye-colour is a valuable indicator of disorders in pigment production and eye dysfunctions. Disorders related to coat colour-associated alleles also occur in the skin (melanoma), reproductive tract and immune system. Additionally, the coat colour phenotype of an individual influences its general behaviour and fitness. Mutations in the same genes often produce similar coat colours and pleiotropic effects in different species (e.g., KIT [reproductive disorders, lethality], EDNRB [megacolon] and LYST [CHS]). Whereas similar disorders and similar-looking coat colour phenotypes sometimes have a different genetic background (e.g., deafness [EDN3/EDNRB, MITF, PAX and SNAI2] and visual diseases [OCA2, RAB38, SLC24A5, SLC45A2, TRPM1 and TYR]). The human predilection for fancy phenotypes that ignore disorders and genetic defects is a major driving force for the increase of pleiotropic effects in domestic species and laboratory subjects since domestication has commenced approximately 18,000 years ago.


AS; ASIP; ATRN; Agouti signalling protein; Albino; Angelman syndrome; Attractin (mahogany); BLOC; Biogenesis of lysosomal organelles complex; CCSD; CHS; CSD; CSNB; Canine congenital sensorineural deafness; Chediak-Higashi syndrome; Coat colour gene; Congenital sensorineural deafness; Congenital stationary night blindness; Disorder; EDN3; EDNRB; Endothelin 3; Endothelin receptor type B; Epistasis; Fitness; GS; Griscelli syndrome (type 1 or 2); HPS; HSCR; Hermansky-Pudlak syndrome with different types; Hirschsprung disease; IPE; Iris pigment epithelium; KIT; KIT ligand (steel factor); KITLG; LFS; LYST; Lavender foal syndrome; Lethal; Leucism; Lysosomal trafficking regulator; MC1R; MCOA; MCOLN3; MGRN1; MITF; MYO5A; Mahogunin ring finger 1 (E3 ubiquitin protein ligase); Melanocortin 1 receptor; Melanoma; Microphthalmia-associated transcription factor; Mucolipin 3 (TRPML3); Multiple congenital ocular anomalies; Myosin VA (heavy chain 12, myoxin); OA; OCA; OCA2; OLWS; OSTM1; Ocular albinism; Oculocutaneous albinism II (pink-eye dilution homolog); Oculocutaneous albinism type 1–4; Osteopetrosis associated transmembrane protein 1 (Grey lethal osteopetrosis); Overo lethal white syndrome; PAX3; PMEL; PWS; Paired box 3; Pleiotropy; Prader-Willi syndrome; Premelanosome protein (Pmel17, SILV); RAB27A; RAB27A member RAS oncogene family; RAB38; RAB38 member RAS oncogene family; RPE; Reproduction; Retinal pigmented epithelium; SLC24A5; SLC2A9; SLC45A2; SNAI2; STX17; Snail homolog 2 (Drosophila), (SLUG), SOX10, SRY (sex determining region Y)-box 10; Solute carrier family 2 (facilitated glucose transporter), member 9; Solute carrier family 24, member 5; Solute carrier family 45, member 2, MATP; Syntaxin 17; TRPM1; TYR; Tameness; Transient receptor potential cation channel, subfamily M, member 1 (melastatin-1); Tyrosinase, TYRP1, Tyrosinase-related protein 1; V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, tyrosine kinase receptor (c-kit); WS; Waardenburg syndrome (type 1, type 2 combined with Tietz syndrome type 3 Klein-Waardenburg syndrome, type 4 Waardenburg-Shah syndrome); alpha-melanocyte-stimulating hormone; αMSH

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