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Article: The human α2(XI) collagen gene (COL1 1A2): Completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene

TitleThe human α2(XI) collagen gene (COL1 1A2): Completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene
Authors
Issue Date1996
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 1996, v. 32 n. 3, p. 401-412 How to Cite?
AbstractType XI collagen, a fibril-forming collagen, is important for the integrity and development of the skeleton because mutations in the genes encoding its consituent α chains have been found in some osteochondrodysplasias. We provide data that complete information for the coding sequence of human α2(XI) procollagen, with details of the promoter region and intron-exon organization at the 5′ and 3′ ends of the gene (COL11A2), including the transcription start and polyadenylation sites. COL11A2 is 30.5 kb with a minimum of 62 exons, differing from other reported fibrillar collagen genes because the amino propeptide is encoded by 14 not 5 to 8 exons. But exon numbers for the carboxy propeptide and 3′-untranslated region are conserved. The promoter region of COL11A2 lacks a TATA box but is GC-rich with two potential SP1 binding sites. Mouse α2(XI) collagen mRNAs undergo complex alternative splicing involving three amino-terminal propeptide exons but only one of these has been reported for COL11A2. We have located these missing human exons and have identified splice signals that point to additional splice variants. We have precisely mapped COL11A2 within the major histocompatibility complex on chromosome 6. The retinoid X receptor β (RXRβ) gene is located 1.1 kb upstream of COL11A2. KE5, previously thought to be a distinct transcribed gene sequence, was mapped within COL11A2 in the alternatively spliced region, raising the question whether KE5 and COL11A2 are separate genes. © 1996 Academic Press, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/147408
ISSN
2015 Impact Factor: 2.386
2015 SCImago Journal Rankings: 1.281
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorNg, LJen_HK
dc.contributor.authorSat, EWYen_HK
dc.contributor.authorCheah, KSEen_HK
dc.date.accessioned2012-05-29T06:03:30Z-
dc.date.available2012-05-29T06:03:30Z-
dc.date.issued1996en_HK
dc.identifier.citationGenomics, 1996, v. 32 n. 3, p. 401-412en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/147408-
dc.description.abstractType XI collagen, a fibril-forming collagen, is important for the integrity and development of the skeleton because mutations in the genes encoding its consituent α chains have been found in some osteochondrodysplasias. We provide data that complete information for the coding sequence of human α2(XI) procollagen, with details of the promoter region and intron-exon organization at the 5′ and 3′ ends of the gene (COL11A2), including the transcription start and polyadenylation sites. COL11A2 is 30.5 kb with a minimum of 62 exons, differing from other reported fibrillar collagen genes because the amino propeptide is encoded by 14 not 5 to 8 exons. But exon numbers for the carboxy propeptide and 3′-untranslated region are conserved. The promoter region of COL11A2 lacks a TATA box but is GC-rich with two potential SP1 binding sites. Mouse α2(XI) collagen mRNAs undergo complex alternative splicing involving three amino-terminal propeptide exons but only one of these has been reported for COL11A2. We have located these missing human exons and have identified splice signals that point to additional splice variants. We have precisely mapped COL11A2 within the major histocompatibility complex on chromosome 6. The retinoid X receptor β (RXRβ) gene is located 1.1 kb upstream of COL11A2. KE5, previously thought to be a distinct transcribed gene sequence, was mapped within COL11A2 in the alternatively spliced region, raising the question whether KE5 and COL11A2 are separate genes. © 1996 Academic Press, Inc.en_HK
dc.languageengen_US
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygenoen_HK
dc.relation.ispartofGenomicsen_HK
dc.subject.meshAlternative Splicingen_US
dc.subject.meshAmino Acid Sequenceen_US
dc.subject.meshAnimalsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChromosomes, Human, Pair 6en_US
dc.subject.meshDna-Binding Proteins - Geneticsen_US
dc.subject.meshExons - Geneticsen_US
dc.subject.meshGenes - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIntrons - Geneticsen_US
dc.subject.meshMajor Histocompatibility Complex - Geneticsen_US
dc.subject.meshMiceen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshPoly Aen_US
dc.subject.meshProcollagen - Geneticsen_US
dc.subject.meshPromoter Regions, Genetic - Geneticsen_US
dc.subject.meshRestriction Mappingen_US
dc.subject.meshSequence Analysis, Dnaen_US
dc.subject.meshSequence Homology, Amino Aciden_US
dc.subject.meshSequence Homology, Nucleic Aciden_US
dc.titleThe human α2(XI) collagen gene (COL1 1A2): Completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 geneen_HK
dc.typeArticleen_HK
dc.identifier.emailLui, VCH: vchlui@hkucc.hku.hken_HK
dc.identifier.emailCheah, KSE: hrmbdkc@hku.hken_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityCheah, KSE=rp00342en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1006/geno.1996.0135en_HK
dc.identifier.pmid8838804-
dc.identifier.scopuseid_2-s2.0-0029918429en_HK
dc.identifier.hkuros20387-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029918429&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume32en_HK
dc.identifier.issue3en_HK
dc.identifier.spage401en_HK
dc.identifier.epage412en_HK
dc.identifier.isiWOS:A1996UA29800013-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridNg, LJ=7201477760en_HK
dc.identifier.scopusauthoridSat, EWY=6506589776en_HK
dc.identifier.scopusauthoridCheah, KSE=35387746200en_HK

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