Thursday, November 8, 2012

Fly used to test disease-associated alleles. IMAGe syndrome. Recent report.

In this study, the authors expressed disease-associated mutations in CDKN1C in the fly eye. They report that expression of disease-associated forms but not wild-type caused eye growth defects.

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi:10.1038/ng.2275. PubMed PMID: 22634751; PubMed Central PMCID: PMC3386373.

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