Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/68524
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dc.contributor.authorHe, H.-
dc.contributor.authorLiyanarachchi, S.-
dc.contributor.authorAkagi, K.-
dc.contributor.authorNagy, R.-
dc.contributor.authorLi, J.-
dc.contributor.authorDietrich, R.-
dc.contributor.authorLi, W.-
dc.contributor.authorSebastian, N.-
dc.contributor.authorWen, B.-
dc.contributor.authorXin, B.-
dc.contributor.authorSingh, J.-
dc.contributor.authorYan, P.-
dc.contributor.authorAlder, H.-
dc.contributor.authorHaan, E.-
dc.contributor.authorWieczorek, D.-
dc.contributor.authorAlbrecht, B.-
dc.contributor.authorPuffenberger, E.-
dc.contributor.authorWang, H.-
dc.contributor.authorWestman, J.-
dc.contributor.authorPadgett, R.-
dc.contributor.authoret al.-
dc.date.issued2011-
dc.identifier.citationScience, 2011; 332(6026):238-240-
dc.identifier.issn0036-8075-
dc.identifier.issn1095-9203-
dc.identifier.urihttp://hdl.handle.net/2440/68524-
dc.description.abstractSmall 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.-
dc.description.statementofresponsibilityHuiling He... Eric Haan... et al.-
dc.language.isoen-
dc.publisherAmer Assoc Advancement Science-
dc.rightsCopyright 2011 by the American Association for the Advancement of Science; all rights reserved.-
dc.source.urihttp://dx.doi.org/10.1126/science.1200587-
dc.subjectCell Line-
dc.subjectChromosomes, Human, Pair 2-
dc.subjectSpliceosomes-
dc.subjectHumans-
dc.subjectDwarfism-
dc.subjectOsteochondrodysplasias-
dc.subjectMicrocephaly-
dc.subjectFetal Growth Retardation-
dc.subjectRNA, Small Nuclear-
dc.subjectPedigree-
dc.subjectRNA Splicing-
dc.subjectNucleic Acid Conformation-
dc.subjectMutation-
dc.subjectIntrons-
dc.subjectFemale-
dc.subjectMale-
dc.subjectInverted Repeat Sequences-
dc.titleMutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I-
dc.typeJournal article-
dc.identifier.doi10.1126/science.1200587-
pubs.publication-statusPublished-
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]-
Appears in Collections:Aurora harvest
Paediatrics publications

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