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Article: Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms

TitleDeficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms
Authors
Issue Date2007
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/gene
Citation
Genes And Immunity, 2007, v. 8 n. 2, p. 154-163 How to Cite?
AbstractMannan-binding lectin (MBL) and ficolins distinguish between self, non-self and altered-self by recognizing patterns of ligands on the surface of microorganisms or aberrant cells. When this happens MBL-associated serine protease-2 (MASP-2) is activated and cleaves complement factors to start inflammatory actions. We examined human populations for MASP-2 levels, MASP-2 function and for the presence of mutations in coding exons of MASP2. The MASP-2 levels were lowest in Africans from Zambia (median, 196ng/ml) followed by Hong Kong Chinese (262ng/ml), Brazilian Amerindians (290ng/ml) and Danish Caucasians (416ng/ml). In the Chinese population, we uncovered a novel four amino-acid tandem duplication (p.156_159dupCHNH) associated with low levels of MASP-2. The frequency of this mutation as well as the SNPs p.R99C, p.R118C, p.D120G, p.P126L and p.V377A were analyzed. The p.156_159dupCHNH was only found in Chinese (gene frequency 0.26%) and p.D120G was found only in Caucasians and Inuits from West-Greenland. The p.P126L and p.R99Q were present in Africans and Amerindians only, except for p.R99Q in one Caucasian. The MASP-2 levels were reduced in individuals with p.V377A present. The MASP-2 present in individuals homozygous for p.377A or p.99Q had a normal enzyme activity whereas MASP-2 in individuals homozygous for p.126L was non-functional.
Persistent Identifierhttp://hdl.handle.net/10722/170384
ISSN
2015 Impact Factor: 2.472
2015 SCImago Journal Rankings: 1.636
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorThiel, Sen_US
dc.contributor.authorSteffensen, Ren_US
dc.contributor.authorChristensen, IJen_US
dc.contributor.authorIp, WKen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorReason, IJMen_US
dc.contributor.authorEiberg, Hen_US
dc.contributor.authorGadjeva, Men_US
dc.contributor.authorRuseva, Men_US
dc.contributor.authorJensenius, JCen_US
dc.date.accessioned2012-10-30T06:07:56Z-
dc.date.available2012-10-30T06:07:56Z-
dc.date.issued2007en_US
dc.identifier.citationGenes And Immunity, 2007, v. 8 n. 2, p. 154-163en_US
dc.identifier.issn1466-4879en_US
dc.identifier.urihttp://hdl.handle.net/10722/170384-
dc.description.abstractMannan-binding lectin (MBL) and ficolins distinguish between self, non-self and altered-self by recognizing patterns of ligands on the surface of microorganisms or aberrant cells. When this happens MBL-associated serine protease-2 (MASP-2) is activated and cleaves complement factors to start inflammatory actions. We examined human populations for MASP-2 levels, MASP-2 function and for the presence of mutations in coding exons of MASP2. The MASP-2 levels were lowest in Africans from Zambia (median, 196ng/ml) followed by Hong Kong Chinese (262ng/ml), Brazilian Amerindians (290ng/ml) and Danish Caucasians (416ng/ml). In the Chinese population, we uncovered a novel four amino-acid tandem duplication (p.156_159dupCHNH) associated with low levels of MASP-2. The frequency of this mutation as well as the SNPs p.R99C, p.R118C, p.D120G, p.P126L and p.V377A were analyzed. The p.156_159dupCHNH was only found in Chinese (gene frequency 0.26%) and p.D120G was found only in Caucasians and Inuits from West-Greenland. The p.P126L and p.R99Q were present in Africans and Amerindians only, except for p.R99Q in one Caucasian. The MASP-2 levels were reduced in individuals with p.V377A present. The MASP-2 present in individuals homozygous for p.377A or p.99Q had a normal enzyme activity whereas MASP-2 in individuals homozygous for p.126L was non-functional.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/geneen_US
dc.relation.ispartofGenes and Immunityen_US
dc.subject.meshAfrican Continental Ancestry Group - Geneticsen_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshBrazilen_US
dc.subject.meshDna Primersen_US
dc.subject.meshExons - Geneticsen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGreenlanden_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshIndians, South American - Geneticsen_US
dc.subject.meshInuits - Geneticsen_US
dc.subject.meshMannose-Binding Protein-Associated Serine Proteases - Deficiency - Geneticsen_US
dc.subject.meshMutation, Missense - Geneticsen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshSequence Analysis, Dnaen_US
dc.subject.meshZambiaen_US
dc.titleDeficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphismsen_US
dc.typeArticleen_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/sj.gene.6364373en_US
dc.identifier.pmid17252003-
dc.identifier.scopuseid_2-s2.0-33847771446en_US
dc.identifier.hkuros126107-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33847771446&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume8en_US
dc.identifier.issue2en_US
dc.identifier.spage154en_US
dc.identifier.epage163en_US
dc.identifier.isiWOS:000244715500009-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridThiel, S=7004524621en_US
dc.identifier.scopusauthoridSteffensen, R=7005130008en_US
dc.identifier.scopusauthoridChristensen, IJ=7007084409en_US
dc.identifier.scopusauthoridIp, WK=35083568800en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.scopusauthoridReason, IJM=9745527500en_US
dc.identifier.scopusauthoridEiberg, H=7005573668en_US
dc.identifier.scopusauthoridGadjeva, M=6602760437en_US
dc.identifier.scopusauthoridRuseva, M=8402937100en_US
dc.identifier.scopusauthoridJensenius, JC=7005603928en_US
dc.identifier.citeulike1067916-

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