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https://hdl.handle.net/2440/68524
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dc.contributor.author | He, H. | - |
dc.contributor.author | Liyanarachchi, S. | - |
dc.contributor.author | Akagi, K. | - |
dc.contributor.author | Nagy, R. | - |
dc.contributor.author | Li, J. | - |
dc.contributor.author | Dietrich, R. | - |
dc.contributor.author | Li, W. | - |
dc.contributor.author | Sebastian, N. | - |
dc.contributor.author | Wen, B. | - |
dc.contributor.author | Xin, B. | - |
dc.contributor.author | Singh, J. | - |
dc.contributor.author | Yan, P. | - |
dc.contributor.author | Alder, H. | - |
dc.contributor.author | Haan, E. | - |
dc.contributor.author | Wieczorek, D. | - |
dc.contributor.author | Albrecht, B. | - |
dc.contributor.author | Puffenberger, E. | - |
dc.contributor.author | Wang, H. | - |
dc.contributor.author | Westman, J. | - |
dc.contributor.author | Padgett, R. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2011 | - |
dc.identifier.citation | Science, 2011; 332(6026):238-240 | - |
dc.identifier.issn | 0036-8075 | - |
dc.identifier.issn | 1095-9203 | - |
dc.identifier.uri | http://hdl.handle.net/2440/68524 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | Huiling He... Eric Haan... et al. | - |
dc.language.iso | en | - |
dc.publisher | Amer Assoc Advancement Science | - |
dc.rights | Copyright 2011 by the American Association for the Advancement of Science; all rights reserved. | - |
dc.source.uri | http://dx.doi.org/10.1126/science.1200587 | - |
dc.subject | Cell Line | - |
dc.subject | Chromosomes, Human, Pair 2 | - |
dc.subject | Spliceosomes | - |
dc.subject | Humans | - |
dc.subject | Dwarfism | - |
dc.subject | Osteochondrodysplasias | - |
dc.subject | Microcephaly | - |
dc.subject | Fetal Growth Retardation | - |
dc.subject | RNA, Small Nuclear | - |
dc.subject | Pedigree | - |
dc.subject | RNA Splicing | - |
dc.subject | Nucleic Acid Conformation | - |
dc.subject | Mutation | - |
dc.subject | Introns | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Inverted Repeat Sequences | - |
dc.title | Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1126/science.1200587 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Haan, E. [0000-0002-7310-5124] | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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