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Article: Mutations in the hepatocyte nuclear factor-1α gene in Chinese MODY families: Prevalence and functional analysis

TitleMutations in the hepatocyte nuclear factor-1α gene in Chinese MODY families: Prevalence and functional analysis
Authors
Issue Date2002
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00125/index.htm
Citation
Diabetologia, 2002, v. 45 n. 5, p. 744-746 How to Cite?
AbstractAims/hypothesis. Maturity-onset diabetes of the young is an autosomal dominant form of diabetes characterised by an early age of onset (usually <25 years). We investigated the prevalence and trans-activating activity of hepatocyte nuclear factor (HNF)-1α mutations in southern Chinese families with MODY. Methods. We screened for mutations in the HNF-1α gene in 50 unrelated southern Chinese families, which fulfilled the minimum criteria for MODY. Functional properties of the mutant proteins were investigated using site-directed mutagenesis and luciferase reporter assay. Results. Five of the 50 (10%) families were found to have mutations in the coding region, including a new nonsense mutation Q176X and four reported mutations (frameshift mutation P379fsdelCT, nonsense mutation R171X, missense mutations G20R and P112L). These mutations had decreased trans-activating activity on the human insulin gene promoter. We also detected a new intronic sequence variation IVS7nt-6 G→A, which co-segregated with diabetes. The intronic variation creates a potential splice acceptor site and might alter the splicing of the HNF-1α mRNA. Conclusion/interpretation. Mutations in the HNF-1α gene seem to be an important cause of MODY in southern Chinese. The mutations could affect normal islet function by altering the expression of target genes.
Persistent Identifierhttp://hdl.handle.net/10722/162564
ISSN
2015 Impact Factor: 6.206
2015 SCImago Journal Rankings: 3.528
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorXu, JYen_US
dc.contributor.authorChan, Ven_US
dc.contributor.authorZhang, WYen_US
dc.contributor.authorWat, NMSen_US
dc.contributor.authorLam, KSLen_US
dc.date.accessioned2012-09-05T05:21:12Z-
dc.date.available2012-09-05T05:21:12Z-
dc.date.issued2002en_US
dc.identifier.citationDiabetologia, 2002, v. 45 n. 5, p. 744-746en_US
dc.identifier.issn0012-186Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/162564-
dc.description.abstractAims/hypothesis. Maturity-onset diabetes of the young is an autosomal dominant form of diabetes characterised by an early age of onset (usually <25 years). We investigated the prevalence and trans-activating activity of hepatocyte nuclear factor (HNF)-1α mutations in southern Chinese families with MODY. Methods. We screened for mutations in the HNF-1α gene in 50 unrelated southern Chinese families, which fulfilled the minimum criteria for MODY. Functional properties of the mutant proteins were investigated using site-directed mutagenesis and luciferase reporter assay. Results. Five of the 50 (10%) families were found to have mutations in the coding region, including a new nonsense mutation Q176X and four reported mutations (frameshift mutation P379fsdelCT, nonsense mutation R171X, missense mutations G20R and P112L). These mutations had decreased trans-activating activity on the human insulin gene promoter. We also detected a new intronic sequence variation IVS7nt-6 G→A, which co-segregated with diabetes. The intronic variation creates a potential splice acceptor site and might alter the splicing of the HNF-1α mRNA. Conclusion/interpretation. Mutations in the HNF-1α gene seem to be an important cause of MODY in southern Chinese. The mutations could affect normal islet function by altering the expression of target genes.en_US
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00125/index.htmen_US
dc.relation.ispartofDiabetologiaen_US
dc.subject.meshAmino Acid Substitutionen_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshChina - Epidemiologyen_US
dc.subject.meshCodon - Geneticsen_US
dc.subject.meshDna-Binding Proteins - Geneticsen_US
dc.subject.meshDiabetes Mellitus, Type 2 - Epidemiology - Geneticsen_US
dc.subject.meshExonsen_US
dc.subject.meshHepatocyte Nuclear Factor 1en_US
dc.subject.meshHepatocyte Nuclear Factor 1-Alphaen_US
dc.subject.meshHepatocyte Nuclear Factor 1-Betaen_US
dc.subject.meshHumansen_US
dc.subject.meshNuclear Proteinsen_US
dc.subject.meshPlasmidsen_US
dc.subject.meshPrevalenceen_US
dc.subject.meshTranscription Factors - Geneticsen_US
dc.subject.meshTransfectionen_US
dc.titleMutations in the hepatocyte nuclear factor-1α gene in Chinese MODY families: Prevalence and functional analysisen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.emailLam, KSL:ksllam@hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.identifier.authorityLam, KSL=rp00343en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/s00125-002-0814-9en_US
dc.identifier.pmid12107757-
dc.identifier.scopuseid_2-s2.0-0035985091en_US
dc.identifier.hkuros69535-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035985091&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume45en_US
dc.identifier.issue5en_US
dc.identifier.spage744en_US
dc.identifier.epage746en_US
dc.identifier.isiWOS:000176301300017-
dc.publisher.placeGermanyen_US
dc.identifier.scopusauthoridXu, JY=8947805200en_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridZhang, WY=13304214800en_US
dc.identifier.scopusauthoridWat, NMS=6602131754en_US
dc.identifier.scopusauthoridLam, KSL=8082870600en_US

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