Tyrosinase and TYRP1 are critical in the melanin synthesis pathway whereas P protein (OCA2) and SLC45A2 are involved in melanocytes maintenance or formation.Ī previous study tried to assess whether the causative mutation of Snowflake’s albinism was located in the TYR gene but no causative mutation was found. It has been widely studied in humans and four genes are found to be causative of this disorder: (i) OCA1A/B (MIM 203100,606952) are caused by mutations in the gene TYR ( Tyrosinase) (ii) mutations in the OCA2 gene (previously known as P-gene) can cause OCA2 phenotype (MIM 203200) (iii) mutations in TYRP1 cause OCA3 (MIM 203290) and (iv) OCA4 (MIM 606574) is caused by mutations in SLC45A2 (formerly known as MATP and AIM1). Pigmentation is determined by melanin compounds, which are produced in melanocytes and are transported via melanosomes into keratinocytes of the epidermis and hair follicles. This is a group of Mendelian recessive disorders characterized by the generalized reduction of pigmentation in skin, hair, and eyes. Snowflake was diagnosed with non-syndromic albinism (Oculocutaneous Albinism, OCA). This Western lowland gorilla was wild-born in Equatorial Guinea and he presented the typical characteristics of oculocutaneous albinism.
Javier Prado-Martinez: Irene Hernando-Herraez: Belen Lorente-Galdos: Marc Dabad: Oscar Ramirez: Carlos Baeza-Delgado: Carlos Morcillo-Suarez: Can Alkan: Fereydoun Hormozdiari: Emanuele Raineri: Jordi Estellé: Marcos Fernandez-Callejo: Mònica Valles: Lars Ritscher: Torsten Schöneberg: Elisa de la Calle-Mustienes: Sònia Casillas: Raquel Rubio-Acero: Marta Melé: Johannes Engelken: Mario Caceres: Jose Luis Gomez-Skarmeta: Marta Gut: Jaume Bertranpetit: Ivo G Gut: Teresa Abello: Evan E Eichler: Ismael Mingarro: Carles Lalueza-Fox: Arcadi Navarro: Tomas Marques-Bonet:, the only known albino gorilla.
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