This GWAS-identified human gene has a fly ortholog, too? Yes, it seems so.
Cheung CL, Lau KS, Ho AY, Lee KK, Tiu SC, Lau EY, Leung J, Tsang MW, Chan KW, Yeung CY, Woo YC, Cheung EY, Hung VH, Pang HK, Hung CS, Sham PC, Kung AW. Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3. Nat Genet. 2012 Aug 5. doi: 10.1038/ng.2367. PubMed PMID: 22863731
The top-scoring Drosophila DIOPT result for human KCNJ2 is Irk2.
Other related genes include Ir and Irk3.
The Gal4-UAS system could be used to test RNAi knockdown of these genes, as the FlyBase reports (click gene links above) show that RNAi fly stocks from the Transgenic RNAi Project (TRiP) and Vienna Drosophila RNAi Center (VDRC) exist for these genes.
According to Wikipedia, thyrotoxic periodic paralysis is classified under the larger umbrella of channelopathies, which also include alternating hemiplegia of childhood.
Showing posts with label Channelopathies. Show all posts
Showing posts with label Channelopathies. Show all posts
Wednesday, August 29, 2012
GWAS implicates ATP1A3 in alternating hemiplegia of childhood.
A genome-wide association study points to mutations in the human gene ATP1A3 as causative in alternating hemiplegia of childhood (AHC). The authors state that distinct mutations in same gene has been implicated in rapid-onset dystonia-parkinsonism.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Jul 29. doi:10.1038/ng.2358. PubMed PMID: 22842232.
The fly ortholog of ATP1A3 appears to be ATPalpha (FBgn0002921) (DIOPT score = 8, indicating that 8 of 9 published ortholog prediction algorithms/tools predict this human-fly gene relationship).
As annotated in FlyBase, researchers have isolated a large number of mutations in ATPalpha and mutant phenotypes include lethality, the 'bang sensitive' phenotype, hypoactivity, paralysis and neurophysiological defects. Presumably these existing fly models could be used to study AHC.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Jul 29. doi:10.1038/ng.2358. PubMed PMID: 22842232.
The fly ortholog of ATP1A3 appears to be ATPalpha (FBgn0002921) (DIOPT score = 8, indicating that 8 of 9 published ortholog prediction algorithms/tools predict this human-fly gene relationship).
As annotated in FlyBase, researchers have isolated a large number of mutations in ATPalpha and mutant phenotypes include lethality, the 'bang sensitive' phenotype, hypoactivity, paralysis and neurophysiological defects. Presumably these existing fly models could be used to study AHC.
Subscribe to:
Posts (Atom)