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Nat Genet. 1996 Jul;13(3):303-8.

Identification of the murine beige gene by YAC complementation and positional cloning.

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1
Department of Pathology, University of Utah School of Medicine, Salt Lake City 84132, USA.

Abstract

The beige mutation is a murine autosomal recessive disorder, resulting in hypopigmentation, bleeding and immune cell dysfunction. The gene defective in beige is thought to be a homologue of the gene for the human disorder Chediak-Higashi syndrome. We have identified the murine beige gene by in vitro complementation and positional cloning, and confirmed its identification by defining mutations in two independent mutant alleles. The sequence of the beige gene message shows strong nucleotide homology to multiple human ESTs, one or more of which may be associated with the Chediak-Higashi syndrome gene. The amino acid sequence of the Beige protein revealed a novel protein with significant amino acid homology to orphan proteins identified in Saccharomyces cerevisiae, Caenorhabditis elegans and humans.

PMID:
8673129
DOI:
10.1038/ng0796-303
[Indexed for MEDLINE]
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