{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1362262945437550592.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1073/pnas.0409742102"}},{"identifier":{"@type":"URI","@value":"https://pnas.org/doi/pdf/10.1073/pnas.0409742102"}},{"identifier":{"@type":"NAID","@value":"30016245285"}}],"dc:title":[{"@value":"Identification and analysis of alternative splicing events conserved in human and mouse"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>\n            Alternative pre-mRNA splicing affects a majority of human genes and plays important roles in development and disease. Alternative splicing (AS) events conserved since the divergence of human and mouse are likely of primary biological importance, but relatively few of such events are known. Here we describe sequence features that distinguish exons subject to evolutionarily conserved AS, which we call alternative conserved exons (ACEs), from other orthologous human/mouse exons and integrate these features into an exon classification algorithm,\n            <jats:sc>acescan</jats:sc>\n            . Genome-wide analysis of annotated orthologous human–mouse exon pairs identified ≈2,000 predicted ACEs. Alternative splicing was verified in both human and mouse tissues by using an RT-PCR-sequencing protocol for 21 of 30 (70%) predicted ACEs tested, supporting the validity of a majority of\n            <jats:sc>acescan</jats:sc>\n            predictions. By contrast, AS was observed in mouse tissues for only 2 of 15 (13%) tested exons that had EST or cDNA evidence of AS in human but were not predicted ACEs, and AS was never observed for 11 negative control exons in human or mouse tissues. Predicted ACEs were much more likely to preserve the reading frame and less likely to disrupt protein domains than other AS events and were enriched in genes expressed in the brain and in genes involved in transcriptional regulation, RNA processing, and development. Our results also imply that the vast majority of AS events represented in the human EST database are not conserved in mouse.\n          </jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380013334838357380","@type":"Researcher","foaf:name":[{"@value":"Gene W. Yeo"}],"jpcoar:affiliationName":[{"@value":"Departments of Biology and Brain and Cognitive Sciences and Center for Biological and Computational Learning, Massachusetts Institute of Technology, Cambridge, MA 02319"}]},{"@id":"https://cir.nii.ac.jp/crid/1380013334838357378","@type":"Researcher","foaf:name":[{"@value":"Eric Van Nostrand"}],"jpcoar:affiliationName":[{"@value":"Departments of Biology and Brain and Cognitive Sciences and Center for Biological and Computational Learning, Massachusetts Institute of Technology, Cambridge, MA 02319"}]},{"@id":"https://cir.nii.ac.jp/crid/1380013334838357379","@type":"Researcher","foaf:name":[{"@value":"Dirk Holste"}],"jpcoar:affiliationName":[{"@value":"Departments of Biology and Brain and Cognitive Sciences and Center for Biological and Computational Learning, Massachusetts Institute of Technology, Cambridge, MA 02319"}]},{"@id":"https://cir.nii.ac.jp/crid/1380013334838357377","@type":"Researcher","foaf:name":[{"@value":"Tomaso Poggio"}],"jpcoar:affiliationName":[{"@value":"Departments of Biology and Brain and Cognitive Sciences and Center for Biological and Computational Learning, Massachusetts Institute of Technology, Cambridge, MA 02319"}]},{"@id":"https://cir.nii.ac.jp/crid/1380013334838357376","@type":"Researcher","foaf:name":[{"@value":"Christopher B. Burge"}],"jpcoar:affiliationName":[{"@value":"Departments of Biology and Brain and Cognitive Sciences and Center for Biological and Computational Learning, Massachusetts Institute of Technology, Cambridge, MA 02319"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00278424"},{"@type":"EISSN","@value":"10916490"}],"prism:publicationName":[{"@value":"Proceedings of the National Academy of Sciences"}],"dc:publisher":[{"@value":"Proceedings of the National Academy of Sciences"}],"prism:publicationDate":"2005-02-11","prism:volume":"102","prism:number":"8","prism:startingPage":"2850","prism:endingPage":"2855"},"reviewed":"false","url":[{"@id":"https://pnas.org/doi/pdf/10.1073/pnas.0409742102"}],"createdAt":"2005-02-12","modifiedAt":"2022-04-26","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1050283688739399936","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Animal Models for Parkinson's Disease Research: Trends in the 2000s"}]},{"@id":"https://cir.nii.ac.jp/crid/1050294045369639424","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy"}]},{"@id":"https://cir.nii.ac.jp/crid/1360004234669449088","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"A network of conserved co-occurring motifs for the regulation of alternative splicing"}]},{"@id":"https://cir.nii.ac.jp/crid/1360014416855599488","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56 419 completely sequenced and manually annotated full-length cDNAs"}]},{"@id":"https://cir.nii.ac.jp/crid/1360285706978368896","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Effects of intronic single nucleotide polymorphisms (iSNPs) of a polysialyltransferase, ST8SIA2 gene found in psychiatric disorders on its gene products"}]},{"@id":"https://cir.nii.ac.jp/crid/1360857593723521792","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of <i>SF3B1</i>-mutant HSPCs"}]},{"@id":"https://cir.nii.ac.jp/crid/1521699230070236416","@type":"Article","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@value":"A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease"},{"@language":"ja-Kana","@value":"missense mutation in the chloride proton ClC 5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11 Identification of seven new CLCN5 mutations in patients with Dent s disease"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1073/pnas.0409742102"},{"@type":"CIA","@value":"30016245285"},{"@type":"CROSSREF","@value":"10.1093/nar/gkq705_references_DOI_M3BU7FORns99gxzIwiczfwOJRcV"},{"@type":"CROSSREF","@value":"10.3390/ijms20215402_references_DOI_M3BU7FORns99gxzIwiczfwOJRcV"},{"@type":"CROSSREF","@value":"10.1093/nar/gkl507_references_DOI_M3BU7FORns99gxzIwiczfwOJRcV"},{"@type":"CROSSREF","@value":"10.1038/s41439-019-0052-z_references_DOI_M3BU7FORns99gxzIwiczfwOJRcV"},{"@type":"CROSSREF","@value":"10.1182/bloodadvances.2021006325_references_DOI_M3BU7FORns99gxzIwiczfwOJRcV"},{"@type":"CROSSREF","@value":"10.1016/j.bbrc.2016.08.079_references_DOI_M3BU7FORns99gxzIwiczfwOJRcV"}]}