Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/68524
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Type: Journal article
Title: Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
Author: He, H.
Liyanarachchi, S.
Akagi, K.
Nagy, R.
Li, J.
Dietrich, R.
Li, W.
Sebastian, N.
Wen, B.
Xin, B.
Singh, J.
Yan, P.
Alder, H.
Haan, E.
Wieczorek, D.
Albrecht, B.
Puffenberger, E.
Wang, H.
Westman, J.
Padgett, R.
et al.
Citation: Science, 2011; 332(6026):238-240
Publisher: Amer Assoc Advancement Science
Issue Date: 2011
ISSN: 0036-8075
1095-9203
Statement of
Responsibility: 
Huiling He... Eric Haan... et al.
Abstract: 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 multiple organ abnormalities. Functional assays showed that mutations (30G>A, 51G>A, 55G>A, and 111G>A) associated with MOPD I cause defective U12-dependent splicing. Endogenous U12-dependent but not U2-dependent introns were found to be poorly spliced in MOPD I patient fibroblast cells. The introduction of wild-type U4atac snRNA into MOPD I cells enhanced U12-dependent splicing. These results illustrate the critical role of minor intron splicing in human development.
Keywords: Cell Line
Chromosomes, Human, Pair 2
Spliceosomes
Humans
Dwarfism
Osteochondrodysplasias
Microcephaly
Fetal Growth Retardation
RNA, Small Nuclear
Pedigree
RNA Splicing
Nucleic Acid Conformation
Mutation
Introns
Female
Male
Inverted Repeat Sequences
Rights: Copyright 2011 by the American Association for the Advancement of Science; all rights reserved.
DOI: 10.1126/science.1200587
Appears in Collections:Aurora harvest
Paediatrics publications

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