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Article: The study of sequence configuration and functional impact of the (AC) n(AT) xT y motif in human β-globin gene promoter

TitleThe study of sequence configuration and functional impact of the (AC) n(AT) xT y motif in human β-globin gene promoter
Authors
Keywordsβ-thalassaemia
(AC) n(AT) xT y
BP1
Globin
MEL
Issue Date2007
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35105
Citation
American Journal Of Hematology, 2007, v. 82 n. 5, p. 342-348 How to Cite?
AbstractIn this report we examine the (AC) n(AT) xT y motif residing -530 bp 5′ upstream of the β-globin gene in Chinese thalassaemic patients. This motif is a putative binding site for a repressor protein, termed beta protein 1 (BP1) (Berg et al., Nucleic Acids Res 1989;17:8833-8852). Variations in the (AC) n(AT) xT y repeats affect the binding affinity of BP1, thereby altering the expression of the β-globin gene. Eight different configurations of this repeat motif are identified in our population of Chinese β-thalassaemia patients. A (AC) 3(AT) 7T 5 motif was identified among these thalassaemia patients and its influence in β-globin gene expression was studied using stable transfection assay in murine erythroleukemia (MEL) cells. Our data demonstrated that the (AC) 3(AT) 7T 5 motif has a moderately strong repressor effect on the expression of the cis-linked β-globin gene. The high affinity of BP1 for this motif may result in the suppression of the transcription of the β-globin gene (Berg et al., Am J Hematol 1991;36:42-47). We postulate that silencer elements in the β-globin promoter play an important role in modifying the clinical presentation of the disease. © 2006 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/89266
ISSN
2015 Impact Factor: 5.0
2015 SCImago Journal Rankings: 1.761
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, PKen_HK
dc.contributor.authorMa, ESKen_HK
dc.contributor.authorPhilipsen, Sen_HK
dc.contributor.authorTanUn, KCen_HK
dc.date.accessioned2010-09-06T09:54:39Z-
dc.date.available2010-09-06T09:54:39Z-
dc.date.issued2007en_HK
dc.identifier.citationAmerican Journal Of Hematology, 2007, v. 82 n. 5, p. 342-348en_HK
dc.identifier.issn0361-8609en_HK
dc.identifier.urihttp://hdl.handle.net/10722/89266-
dc.description.abstractIn this report we examine the (AC) n(AT) xT y motif residing -530 bp 5′ upstream of the β-globin gene in Chinese thalassaemic patients. This motif is a putative binding site for a repressor protein, termed beta protein 1 (BP1) (Berg et al., Nucleic Acids Res 1989;17:8833-8852). Variations in the (AC) n(AT) xT y repeats affect the binding affinity of BP1, thereby altering the expression of the β-globin gene. Eight different configurations of this repeat motif are identified in our population of Chinese β-thalassaemia patients. A (AC) 3(AT) 7T 5 motif was identified among these thalassaemia patients and its influence in β-globin gene expression was studied using stable transfection assay in murine erythroleukemia (MEL) cells. Our data demonstrated that the (AC) 3(AT) 7T 5 motif has a moderately strong repressor effect on the expression of the cis-linked β-globin gene. The high affinity of BP1 for this motif may result in the suppression of the transcription of the β-globin gene (Berg et al., Am J Hematol 1991;36:42-47). We postulate that silencer elements in the β-globin promoter play an important role in modifying the clinical presentation of the disease. © 2006 Wiley-Liss, Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/35105en_HK
dc.relation.ispartofAmerican Journal of Hematologyen_HK
dc.rightsAmerican Journal of Hematology. Copyright © John Wiley & Sons, Inc.en_HK
dc.subjectβ-thalassaemiaen_HK
dc.subject(AC) n(AT) xT yen_HK
dc.subjectBP1en_HK
dc.subjectGlobinen_HK
dc.subjectMELen_HK
dc.titleThe study of sequence configuration and functional impact of the (AC) n(AT) xT y motif in human β-globin gene promoteren_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0361-8609&volume=82&spage=342&epage=348&date=2007&atitle=The+study+of+sequence+configuration+and+functional+impact+of+the+(AC)n(AT)xTy+motif+in+human+-globin+gene+promoter+ Am.+J++Hematol+82+(5)+342-8+(2007)en_HK
dc.identifier.emailTanUn, KC: kctanun@hkucc.hku.hken_HK
dc.identifier.authorityTanUn, KC=rp00787en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1002/ajh.20836en_HK
dc.identifier.pmid17133428-
dc.identifier.scopuseid_2-s2.0-34247533761en_HK
dc.identifier.hkuros139814en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34247533761&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume82en_HK
dc.identifier.issue5en_HK
dc.identifier.spage342en_HK
dc.identifier.epage348en_HK
dc.identifier.isiWOS:000245871300002-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChan, PK=24474084200en_HK
dc.identifier.scopusauthoridMa, ESK=7202039934en_HK
dc.identifier.scopusauthoridPhilipsen, S=7003745052en_HK
dc.identifier.scopusauthoridTanUn, KC=6602914262en_HK
dc.identifier.citeulike1373191-

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