title: From single nucleotide substitutions up to chromosomal deletions: genetic pause of leucism-associated disorders in animals.
abstract: Leucism is characterized by a complete or partial white skin and hair in combination with pigmented irides, which can be vivid blue or heterochromatic. This is due to a complete or partial lack of melanocytes. The underlying pathogenesis is a disturbed emigration or differentiation of neural crest-derived cells. Therefore, leucistic phenotypes can be associated with defects, which mainly impair sensory organs and nerves. In humans, a well-known example is the Waardenburg syndrome. Leucism-associated disorders were also described in mouse, rat, hamster, rabbit, mink, cat, dog, pig, sheep, llama, alpaca, cattle and horse. In some of these species already identified causal mutations affect the genes EDN3, EDNRB, KIT, MITF, PAX3, SILV and SOX10. Defect alleles represent different types of genetic variation, ranging from single nucleotide substitutions up to larger chromosomal deletions. Some of the defect alleles produce desired coat color patterns. In some but not all cases, available genetic tests enable breeders to avoid production of animals affected by a leucism-associated disorder.
authors.forename: Katharina
authors.initials: K
authors.lastname: Fleck
authors.forename: Georg
authors.initials: G
authors.lastname: Erhardt
authors.forename: Gesine
authors.initials: G
authors.lastname: Lühken
mesh_terms: D000818:Animals; D002415:Cats; D002417:Cattle; D002872:Chromosome Deletion; D004285:Dogs; D017615:Enteric Nervous System / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000662:veterinary; D006736:Horses; D006801:Humans; D051379:Mice; D009432:Neural Crest / Q000196:embryology; D017354:Point Mutation; D011817:Rabbits; D051381:Rats; D012756:Sheep; D014849:Waardenburg Syndrome / Q000235:genetics / Q000517:prevention & control / Q000662:veterinary*