Article
Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice.
Nature genetics - 1 Sept 2002
Hoogenraad Casper C, Koekkoek Bas, Akhmanova Anna, Krugers Harm, Dortland Bjorn, Miedema Marja, van Alphen Arjan, Kistler Werner M, Jaegle Martine, Koutsourakis Manoussos, Van Camp Nadja, Verhoye Marleen, van der Linden Annemie, Kaverina Irina, Grosveld Frank, De Zeeuw Chris I, Galjart Niels
Abstract excerpt
Williams syndrome is a neurodevelopmental disorder caused by the hemizygous deletion of 1.6 Mb on human chromosome 7q11.23. This region comprises the gene CYLN2, encoding CLIP-115, a microtubule-binding protein of 115 kD. Using a gene-targeting approach, we provide evidence that mice with haploinsufficiency for Cyln2 have features reminiscent of Williams syndrome, including mild growth deficiency, brain...
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