Article
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
Science (New York, N.Y.) - 8 Apr 2011
He Huiling, Liyanarachchi Sandya, Akagi Keiko, Nagy Rebecca, Li Jingfeng, Dietrich Rosemary C, Li Wei, Sebastian Nikhil, Wen Bernard, Xin Baozhong, Singh Jarnail, Yan Pearlly, Alder Hansjuerg, Haan Eric, Wieczorek Dagmar, Albrecht Beate, Puffenberger Erik, Wang Heng, Westman Judith A, Padgett Richard A, Symer David E, de la Chapelle Albert
Abstract excerpt
Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing, we show that a gene encoding U4atac snRNA, a component of the minor U12-dependent spliceosome, is mutated in individuals with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), a severe developmental disorder characterized by extreme intrauterine growth retardation and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.