Article
Mutation of melanosome protein RAB38 in chocolate mice.
Proceedings of the National Academy of Sciences of the United States of America - 2 Apr 2002
Loftus Stacie K, Larson Denise M, Baxter Laura L, Antonellis Anthony, Chen Yidong, Wu Xufeng, Jiang Yuan, Bittner Michael, Hammer John A, Pavan William J
Abstract excerpt
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...
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