PubMed:6086605 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/6086605","sourcedb":"PubMed","sourceid":"6086605","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/6086605","text":"Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.\nA base substitution (C----T) at position -88 relative to the cap site was identified in the beta-globin gene cloned from an individual with a mild form of beta-thalassemia. This nucleotide change lies in the sequence ACACCC proposed as a distal promoter element. Transient expression of the mutant gene in HeLa cells revealed a modest deficit in beta-globin mRNA production. RNA processing was normal. The -88 beta-thalassemia mutation lends further support for the in vivo role of the distal element in transcription.","tracks":[{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":68},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":69,"end":133},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":134,"end":306},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":307,"end":396},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":397,"end":508},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":509,"end":535},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":536,"end":652},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":68},"obj":"Sentence"},{"id":"T2","span":{"begin":69,"end":133},"obj":"Sentence"},{"id":"T3","span":{"begin":134,"end":306},"obj":"Sentence"},{"id":"T4","span":{"begin":307,"end":396},"obj":"Sentence"},{"id":"T5","span":{"begin":397,"end":508},"obj":"Sentence"},{"id":"T6","span":{"begin":509,"end":535},"obj":"Sentence"},{"id":"T7","span":{"begin":536,"end":652},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":226,"end":237},"obj":"gene:3043"},{"id":"T1","span":{"begin":289,"end":305},"obj":"disease:C0005283"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]},{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":289,"end":305},"obj":"ORDO:848"},{"id":"AB2","span":{"begin":544,"end":560},"obj":"ORDO:848"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"}]},{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":289,"end":305},"obj":"Disease"},{"id":"T2","span":{"begin":544,"end":560},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0013517"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0013517"},{"subj":"T1","pred":"source","obj":"mondo_disease"},{"subj":"T2","pred":"source","obj":"mondo_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sentences","color":"#e293ec","default":true},{"id":"DisGeNET","color":"#93ecc8"},{"id":"PubCasesORDO","color":"#ecae93"},{"id":"mondo_disease","color":"#9493ec"}]}]}}