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Molecular Basis Of Albinism: Mutations And Polymorphisms Molecular Basis Of Albinism: Mutations And Polymorphisms Of Pigmentation Genes Associated With Albinism. Title Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Abstract Albinism, caused by a deficiency of melanin pigment in the skin, hair, and eye (oculocutaneous albinism [OCA]), or primarily in the eye (ocular albinism [OA]), results from mutations in genes involved in the biosynthesis of melanin pigment. The lack of melanin pigment in the developing eye leads to fovea hypoplasia and abnormal routing of the optic nerves. These changes are responsible for the nystagmus, strabismus, and reduced visual acuity common to all types of albinism.
Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA 1, the OCA 2 gene and OCA 2, the tyrosinase-related protein- 1 gene (TYRP 1) and OCA 3, the HPS gene and Herman sky-Pudlak syndrome, the CHS gene (CHS 1), and Chediak-Higashi syndrome, and the X-linked ocular albinism gene and OA 1. The function of only two of the gene products is known tyrosinase and tyrosinase-related protein- 1 both of which are enzymes in the melanin biosynthetic pathway. Continued mutational analysis coupled with function / structure studies should aid our understanding of the function of the remaining genes and their role in albinism. Hum Must, 13 (2): 99 - 115 1999
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Research essay sample on Tyrosinase Related Protein Pigmentation Genes Associated With Albinism Gene
