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Article: Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the α globin cluster

TitleComparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the α globin cluster
Authors
Issue Date2001
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 2001, v. 10 n. 4, p. 371-382 How to Cite?
AbstractWe have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish α globin gene clusters and compared them with the corresponding region in man. This has defined a small segment (ε1135-155 kb) of synteny and conserved gene order, which may contain all of the elements required to fully regulate α globin gene expression from its natural chromosomal environment. Comparing human and mouse sequences using previously described methods failed to identify the known regulatory elements. However, refining these methods by ranking identity scores of non-coding sequences, we found conserved sequences including the previously characterized α globin major regulatory element. In chicken and pufferfish, regions that may correspond to this element were found by analysing the distribution of transcription factor binding sites. Regions identified in this way act as strong enhancer elements in expression assays. In addition to delimiting the α globin chromosomal domain, this study has enabled us to develop a more sensitive and accurate routine for identifying regulatory elements in the human genome.
Persistent Identifierhttp://hdl.handle.net/10722/178758
ISSN
2023 Impact Factor: 3.1
2023 SCImago Journal Rankings: 1.602
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFlint, Jen_US
dc.contributor.authorTufarelli, Cen_US
dc.contributor.authorPeden, Jen_US
dc.contributor.authorClark, Ken_US
dc.contributor.authorDaniels, RJen_US
dc.contributor.authorHardison, Ren_US
dc.contributor.authorMiller, Wen_US
dc.contributor.authorPhilipsen, Sen_US
dc.contributor.authorTanUn, KCen_US
dc.contributor.authorMcmorrow, Ten_US
dc.contributor.authorFrampton, Jen_US
dc.contributor.authorAlter, BPen_US
dc.contributor.authorFrischauf, AMen_US
dc.contributor.authorHiggs, DRen_US
dc.date.accessioned2012-12-19T09:49:33Z-
dc.date.available2012-12-19T09:49:33Z-
dc.date.issued2001en_US
dc.identifier.citationHuman Molecular Genetics, 2001, v. 10 n. 4, p. 371-382en_US
dc.identifier.issn0964-6906en_US
dc.identifier.urihttp://hdl.handle.net/10722/178758-
dc.description.abstractWe have cloned, sequenced and annotated segments of DNA spanning the mouse, chicken and pufferfish α globin gene clusters and compared them with the corresponding region in man. This has defined a small segment (ε1135-155 kb) of synteny and conserved gene order, which may contain all of the elements required to fully regulate α globin gene expression from its natural chromosomal environment. Comparing human and mouse sequences using previously described methods failed to identify the known regulatory elements. However, refining these methods by ranking identity scores of non-coding sequences, we found conserved sequences including the previously characterized α globin major regulatory element. In chicken and pufferfish, regions that may correspond to this element were found by analysing the distribution of transcription factor binding sites. Regions identified in this way act as strong enhancer elements in expression assays. In addition to delimiting the α globin chromosomal domain, this study has enabled us to develop a more sensitive and accurate routine for identifying regulatory elements in the human genome.en_US
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_US
dc.relation.ispartofHuman Molecular Geneticsen_US
dc.rightsHuman Molecular Genetics. Copyright © Oxford University Press.-
dc.subject.meshAnimalsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChickensen_US
dc.subject.meshChromosomes - Chemistry - Geneticsen_US
dc.subject.meshConserved Sequence - Geneticsen_US
dc.subject.meshCpg Islands - Geneticsen_US
dc.subject.meshEvolution, Molecularen_US
dc.subject.meshFishesen_US
dc.subject.meshGlobins - Chemistry - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMiceen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMultigene Family - Geneticsen_US
dc.subject.meshNucleic Acid Hybridization - Methodsen_US
dc.subject.meshProtein Structure, Tertiary - Geneticsen_US
dc.subject.meshRegulatory Sequences, Nucleic Acid - Physiologyen_US
dc.titleComparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the α globin clusteren_US
dc.typeArticleen_US
dc.identifier.emailTanUn, KC: kctanun@hkucc.hku.hken_US
dc.identifier.authorityTanUn, KC=rp00787en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1093/hmg/10.4.371-
dc.identifier.pmid11157800en_US
dc.identifier.scopuseid_2-s2.0-0035864919en_US
dc.identifier.hkuros63534-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035864919&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume10en_US
dc.identifier.issue4en_US
dc.identifier.spage371en_US
dc.identifier.epage382en_US
dc.identifier.isiWOS:000167087800007-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridFlint, J=7102999294en_US
dc.identifier.scopusauthoridTufarelli, C=6602641724en_US
dc.identifier.scopusauthoridPeden, J=7006747105en_US
dc.identifier.scopusauthoridClark, K=25932670500en_US
dc.identifier.scopusauthoridDaniels, RJ=8753388000en_US
dc.identifier.scopusauthoridHardison, R=7005257688en_US
dc.identifier.scopusauthoridMiller, W=7406059331en_US
dc.identifier.scopusauthoridPhilipsen, S=7003745052en_US
dc.identifier.scopusauthoridTanUn, KC=6602914262en_US
dc.identifier.scopusauthoridMcMorrow, T=6603304189en_US
dc.identifier.scopusauthoridFrampton, J=7005908436en_US
dc.identifier.scopusauthoridAlter, BP=7102680433en_US
dc.identifier.scopusauthoridFrischauf, AM=35371498400en_US
dc.identifier.scopusauthoridHiggs, DR=7102307960en_US
dc.identifier.issnl0964-6906-

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