title: The tyrosinase gene in gorillas and the albinism of 'Snowflake'.
abstract: The sequence of the tyrosinase (Tyr) gene coding tracts has been obtained for the gorilla (Gorilla gorilla gorilla). The five exons of the gene were sequenced in three gorillas and in a normally pigmented human. The tyrosinase gene has been found to be a very conserved locus with a very low substitution rate. Some nucleotide and amino acid differences were found between the gorilla and human tyrosinase coding sequences. One of the gorillas included in the study is the only known case of albinism in a gorilla ('Snowflake'). Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100). The TYR gene encodes the tyrosinase enzyme (E.C. 1.14.18.1), whose activity was found to be completely lacking in 'Snowflake', indicating that a mutation in the Tyr gene is the likely cause of his albinism. Nonetheless, no nucleotide changes were detected that could account for the lack of Tyr product or tyrosinase activity in Snowflake, and explanations of these findings are discussed.
authors.affiliation: Unitat de Biologia Evolutiva, Facultat de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Martínez-Arias
authors.forename: D
authors.initials: D
authors.lastname: Comas
authors.forename: A
authors.initials: A
authors.lastname: Andrés
authors.forename: M T
authors.initials: MT
authors.lastname: Abelló
authors.forename: X
authors.initials: X
authors.lastname: Domingo-Roura
authors.forename: J
authors.initials: J
authors.lastname: Bertranpetit
mesh_terms: D000417:Albinism / Q000235:genetics*; D000818:Animals; D017124:Conserved Sequence; D005091:Exons; D017353:Gene Deletion; D006071:Gorilla gorilla / Q000235:genetics* / Q000502:physiology*; D006801:Humans; D014442:Monophenol Monooxygenase / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D012333:RNA, Messenger / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: D012333:RNA, Messenger; D014442:Monophenol Monooxygenase