Phylogenetic Analysis of the Genes Responsible for Albinism: Albinism Phylogenetic Analysis

Shikha Pandey, Kumud Sarin, Sumer Singh · Zenodo (CERN European Organization for Nuclear Research) · 2018

The aims of the research were to identify the genes responsible for Albinism. The genes have been identified and analyzed using BLAST.The genes responsible for causing albinism are OCA and OA.Albinism is caused by a mutation in one of several genes. Four forms of OCA are now recognized – OCA1, OCA2, OCA3 and OCA4; some are further divided into subtypes.Each of these genes provides instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in the skin and eyes. A mutation may result in no melanin at all or a significant decline in the amount of melanin thus resulting in albinism. The phylogenetic relation of the genes responsible albinism has been established using various bioinformatics tools like Clustal Omega, MUSCLE, PHYLM, MEGA X and BioEdit. This phylogenetic study has helped us analysis how these genes have evolved with time and what level similarity exists between these sequences. This study paves path for the future analysis of the genes and drug designing foralbinism.

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