The Tyrosinase Gene in gorillas and the Albinism of 'Snowflake'

Rosa Martínez-Arias, David Comas, Aida Andrés, Maria Teresa Abelló, Xavier Domingo-Roura, Jaume Bertranpetit

    Research output: Contribution to journalArticleResearchpeer-review

    7 Citations (Scopus)


    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., 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.
    Original languageEnglish
    Pages (from-to)467-470
    JournalPigment Cell Research
    Issue number6
    Publication statusPublished - 1 Dec 2000


    • Albinism
    • Gorilla
    • Snowflake
    • TYR gene


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