Tuesday, August 21, 2012

Glycerol Kinase Deficiency Model. Recent Report.

Mutations in eye pigmentation genes were among the first identified in Drosophila and helped contribute to our understanding of general mechanisms of genetic inheritance. Now they're impacting our understanding of a human disease model. In the recent report cited below, the authors describe development of a fly model of glycerol kinase deficiency and subsequent analysis of the affected flies.

Open access paper.

New Fly Model:  Glycerol kinase deficiency.

Wightman PJ, Jackson GR, Dipple KM. Glycerol hypersensitivity in a Drosophila model for glycerol kinase deficiency is affected by mutations in eye pigmentation genes. PLoS One. 2012;7(3):e31779. Epub 2012 Mar 9. PubMed PMID: 22427807; PubMed Central PMCID: PMC3302884.

The authors used RNAi knockdown and over-expression of Gyk and Dgk in the study, controlling expression of the RNAi reagent and ORFs with the Gal4-UAS system.

The authors indicate that mutations in the eye color genes brown, garnet, rosy, and vermillion, and the body color gene yellow modified glycerol hypersensitivity in the disease model flies.

Glycerol kinase deficiency is described at Wikipedia.
The relevant human genes at NCBI Gene include GK.
GK and the deficiency are described at OMIM.
Orphanet has some info on various forms of the deficiency.
Relevant fly genes include dGyk (Gyk in FlyBase) and dGK (Dgk in FlyBase).

Based on a DIOPT search, at least two other genes have significant similarity to GK, CG8298 and CG7995.

This review looks to be fairly comprehensive and includes comparison of DGKs in model species:  Mérida I, Avila-Flores A, Merino E. Diacylglycerol kinases: at the hub of cell signalling. Biochem J. 2008 Jan 1;409(1):1-18. Review. PubMed PMID: 18062770

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