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Mutation of melanosome protein RAB38 in chocolate mice.

http://www.ncbi.nlm.nih.gov/pubmed/11917121

Mutations of genes needed for melanocyte function can result in oculocutaneous albinism. Examination of similarities in human gene expression patterns by using microarray analysis reveals that RAB38, a small GTP binding protein, demonstrates a similar expression profile to melanocytic genes. Comparative genomic analysis localizes human RAB38 to the mouse chocolate (cht) locus. A G146T mutation occurs in the conserved GTP binding domain of RAB38 in cht mice. Rab38(cht)/Rab38(cht) mice exhibit a brown coat similar in color to mice with a mutation in tyrosinase-related protein 1 (Tyrp1), a mouse model for oculocutaneous albinism. The targeting of TYRP1 protein to the melanosome is impaired in Rab38(cht)/Rab38(cht) melanocytes. These observations, and the fact that green fluorescent protein-tagged RAB38 colocalizes with end-stage melanosomes in wild-type melanocytes, suggest that RAB38 plays a role in the sorting of TYRP1. This study demonstrates the utility of expression profile analysis to identify mammalian disease genes.

Pubmed ID: 11917121 RIS Download

Mesh terms: Animals | Base Sequence | Cells, Cultured | Chromosome Mapping | Gene Expression Profiling | Humans | Melanocytes | Melanosomes | Membrane Glycoproteins | Mice | Mice, Inbred C57BL | Molecular Sequence Data | Mutation | Oxidoreductases | Pigmentation Disorders | rab GTP-Binding Proteins

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