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- Publisher Website: 10.1038/sj.gene.6364373
- Scopus: eid_2-s2.0-33847771446
- PMID: 17252003
- WOS: WOS:000244715500009
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Article: Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms
Title | Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms |
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Authors | |
Issue Date | 2007 |
Publisher | Nature 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? |
Abstract | Mannan-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 Identifier | http://hdl.handle.net/10722/170384 |
ISSN | 2023 Impact Factor: 5.0 2023 SCImago Journal Rankings: 1.426 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
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dc.contributor.author | Thiel, S | en_US |
dc.contributor.author | Steffensen, R | en_US |
dc.contributor.author | Christensen, IJ | en_US |
dc.contributor.author | Ip, WK | en_US |
dc.contributor.author | Lau, YL | en_US |
dc.contributor.author | Reason, IJM | en_US |
dc.contributor.author | Eiberg, H | en_US |
dc.contributor.author | Gadjeva, M | en_US |
dc.contributor.author | Ruseva, M | en_US |
dc.contributor.author | Jensenius, JC | en_US |
dc.date.accessioned | 2012-10-30T06:07:56Z | - |
dc.date.available | 2012-10-30T06:07:56Z | - |
dc.date.issued | 2007 | en_US |
dc.identifier.citation | Genes And Immunity, 2007, v. 8 n. 2, p. 154-163 | en_US |
dc.identifier.issn | 1466-4879 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/170384 | - |
dc.description.abstract | Mannan-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.language | eng | en_US |
dc.publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/gene | en_US |
dc.relation.ispartof | Genes and Immunity | en_US |
dc.subject.mesh | African Continental Ancestry Group - Genetics | en_US |
dc.subject.mesh | Asian Continental Ancestry Group - Genetics | en_US |
dc.subject.mesh | Brazil | en_US |
dc.subject.mesh | Dna Primers | en_US |
dc.subject.mesh | Exons - Genetics | en_US |
dc.subject.mesh | Gene Frequency | en_US |
dc.subject.mesh | Genotype | en_US |
dc.subject.mesh | Greenland | en_US |
dc.subject.mesh | Hong Kong | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Indians, South American - Genetics | en_US |
dc.subject.mesh | Inuits - Genetics | en_US |
dc.subject.mesh | Mannose-Binding Protein-Associated Serine Proteases - Deficiency - Genetics | en_US |
dc.subject.mesh | Mutation, Missense - Genetics | en_US |
dc.subject.mesh | Polymorphism, Genetic | en_US |
dc.subject.mesh | Sequence Analysis, Dna | en_US |
dc.subject.mesh | Zambia | en_US |
dc.title | Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lau, YL:lauylung@hkucc.hku.hk | en_US |
dc.identifier.authority | Lau, YL=rp00361 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1038/sj.gene.6364373 | en_US |
dc.identifier.pmid | 17252003 | - |
dc.identifier.scopus | eid_2-s2.0-33847771446 | en_US |
dc.identifier.hkuros | 126107 | - |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-33847771446&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 8 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.spage | 154 | en_US |
dc.identifier.epage | 163 | en_US |
dc.identifier.isi | WOS:000244715500009 | - |
dc.publisher.place | United Kingdom | en_US |
dc.identifier.scopusauthorid | Thiel, S=7004524621 | en_US |
dc.identifier.scopusauthorid | Steffensen, R=7005130008 | en_US |
dc.identifier.scopusauthorid | Christensen, IJ=7007084409 | en_US |
dc.identifier.scopusauthorid | Ip, WK=35083568800 | en_US |
dc.identifier.scopusauthorid | Lau, YL=7201403380 | en_US |
dc.identifier.scopusauthorid | Reason, IJM=9745527500 | en_US |
dc.identifier.scopusauthorid | Eiberg, H=7005573668 | en_US |
dc.identifier.scopusauthorid | Gadjeva, M=6602760437 | en_US |
dc.identifier.scopusauthorid | Ruseva, M=8402937100 | en_US |
dc.identifier.scopusauthorid | Jensenius, JC=7005603928 | en_US |
dc.identifier.citeulike | 1067916 | - |
dc.identifier.issnl | 1466-4879 | - |