Monday, August 6, 2012

KANSL1/wah in fly learning and microdeletion syndrome. Breaking Report.

Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262. PubMed PMID: 22544363

Relevant fly gene: waharan (wah) (also called NSL1)

The authors report that RNAi knockdown of wah in mushroom bodies in the fly brain can result in learning defects, providing supporting evidence for a functional link between the conserved KANSL1 gene and brain functions.

At OMIM the syndrome is referred to as autosomal dominant mental retardation-17 (MRD17).

At the cellular level, wah appears to be required for endosomal trafficking.  Read more here:  Lone M, Kungl T, Koper A, Bottenberg W, Kammerer R, Klein M, Sweeney ST, Auburn RP, O'Kane CJ, Prokop A. The nuclear protein Waharan is required for endosomal-lysosomal trafficking in Drosophila. J Cell Sci. 2010 Jul 15;123(Pt 14):2369-74. Epub 2010 Jun 15. PubMed PMID: 20551180; PubMed Central PMCID: PMC2894654.

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