Thursday, September 13, 2012

Fly mauve mutant as model for Chediak-Higashi syndrome. Recent report.

This report describes a new fly model of Chediak-Higashi syndrome (CHS), a disease affecting lysosomes.

Rahman M, Haberman A, Tracy C, Ray S, Kramer H. Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes. Traffic. 2012 Aug 30. doi: 10.1111/tra.12005. PubMed PMID: 22934826.

As of this posting, FlyBase has separate records for mauve (FBgn0014363) and the sequenced region identified as mauve in the paper, CG42863 (FBgn0262110). The CG number or its FlyBase ID pulls up results with a FlyMine search (mauve does not yet match to FlyMine records).

Genes related to fly eye color have contributed to the study of other disease models. See for example this post on a fly glycerol kinase deficiency model.

Looking to get started learning more about CHS? There is summary information about the disease available at GeneReviews.

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