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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2004-4-20
pubmed:databankReference
pubmed:abstractText
Muscarinic receptors are a functionally important family of G-protein-coupled receptors. Using a combination of rapid amplification of 5' cDNA ends and reporter gene assays, we characterized the 5' untranslated region of the CHRM2 gene as expressed in human airway smooth muscle (HASM) cells. A splice site is present 46 bp upstream from the ATG start codon. Five exons with alternative splicing patterns are present upstream of this splice site, separated by introns ranging from 87 bp to > 145 kb. There is evidence for the gene being under the control of a TATA-less promoter with Sp1, GATA, and activator protein-2 binding sites. Multiple transcription start sites (TSSs) were identified. We identified a novel 0.5-kb hypervariable region located 648 bp upstream of the most 5' TSS, a multiallelic (CA) tandem repeat 96 bp downstream of the most 5' TSS, and a common C-->A SNP located 136 bp upstream of the most 5' TSS. Functional studies in primary HASM cells and the BEAS-2B cell line demonstrated highest promoter activity to be upstream of the most 3' TSS, with potential repressor elements operating in a cell type-dependent manner, located upstream of the most 5' TSS. We present functional data to show that the CA repeat may influence the transcription of the gene in HASM and BEAS-2B cells.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1044-1549
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
678-86
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:14512373-5' Untranslated Regions, pubmed-meshheading:14512373-Animals, pubmed-meshheading:14512373-Base Sequence, pubmed-meshheading:14512373-Binding Sites, pubmed-meshheading:14512373-Cells, Cultured, pubmed-meshheading:14512373-Cloning, Molecular, pubmed-meshheading:14512373-Genes, Reporter, pubmed-meshheading:14512373-Humans, pubmed-meshheading:14512373-Molecular Sequence Data, pubmed-meshheading:14512373-Muscle, Smooth, pubmed-meshheading:14512373-Polymorphism, Genetic, pubmed-meshheading:14512373-Promoter Regions, Genetic, pubmed-meshheading:14512373-Receptor, Muscarinic M2, pubmed-meshheading:14512373-Respiratory System, pubmed-meshheading:14512373-Sequence Alignment, pubmed-meshheading:14512373-Transcription, Genetic, pubmed-meshheading:14512373-Transcription Factors
pubmed:year
2004
pubmed:articleTitle
Novel polymorphisms influencing transcription of the human CHRM2 gene in airway smooth muscle.
pubmed:affiliation
Department of Clinical Pharmacology and Therapeutics, University of Malta, Msida, Malta.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't