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- Title
Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.
- Authors
Thiel, S.; Steffensen, R.; Christensen, I. J.; Ip, W. K.; Lau, Y. L.; Reason, I. J. M.; Eiberg, H.; Gadjeva, M.; Ruseva, M.; Jensenius, J. C.
- 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, 196 ng/ml) followed by Hong Kong Chinese (262 ng/ml), Brazilian Amerindians (290 ng/ml) and Danish Caucasians (416 ng/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.Genes and Immunity (2007) 8, 154–163. doi:10.1038/sj.gene.6364373; published online 25 January 2007
- Subjects
LECTINS; LIGANDS (Biochemistry); MICROORGANISMS; POPULATION; COORDINATION compounds; GENE frequency
- Publication
Genes & Immunity, 2007, Vol 8, Issue 2, p154
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/sj.gene.6364373