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Volumn 74, Issue 4, 2009, Pages 298-307

Genetic and structural analysis of MBL2 and MASP2 polymorphisms in south-eastern African children

Author keywords

Africa; Biacore analysis; Collectins; Ficolins; Mannose binding lectin; MASP 2; Polymorphism

Indexed keywords

COLLAGEN; EPIDERMAL GROWTH FACTOR; FICOLIN; MANNAN BINDING LECTIN ASSOCIATED SERINE PROTEINASE; MANNOSE BINDING LECTIN 2;

EID: 70349331510     PISSN: 00012815     EISSN: 13990039     Source Type: Journal    
DOI: 10.1111/j.1399-0039.2009.01328.x     Document Type: Article
Times cited : (17)

References (43)
  • 1
    • 0034999785 scopus 로고    scopus 로고
    • Mannose-binding lectin: Targeting the microbial world for complement attack and opsonophagocytosis
    • Jack DL, Klein NJ, Turner MW. Mannose-binding lectin: targeting the microbial world for complement attack and opsonophagocytosis. Immunol Rev 2001 : 180 : 86 99.
    • (2001) Immunol Rev , vol.180 , pp. 86-99
    • Jack, D.L.1    Klein, N.J.2    Turner, M.W.3
  • 2
    • 0033978938 scopus 로고    scopus 로고
    • Mannose-binding lectin binds to a range of clinically relevant microorganisms and promotes complement deposition
    • Neth O, Jack DL, Dodds AW, Holzel H, Klein NJ, Turner MW. Mannose-binding lectin binds to a range of clinically relevant microorganisms and promotes complement deposition. Infect Immun 2000 : 68 : 688 693.
    • (2000) Infect Immun , vol.68 , pp. 688-693
    • Neth, O.1    Jack, D.L.2    Dodds, A.W.3    Holzel, H.4    Klein, N.J.5    Turner, M.W.6
  • 3
    • 0030297443 scopus 로고    scopus 로고
    • Mannose-binding lectin: The pluripotent molecule of the innate immune system
    • Turner MW. Mannose-binding lectin: the pluripotent molecule of the innate immune system. Immunol Today 1996 : 17 : 532 540.
    • (1996) Immunol Today , vol.17 , pp. 532-540
    • Turner, M.W.1
  • 4
    • 2442676733 scopus 로고    scopus 로고
    • Disease-associated mutations in human mannose-binding lectin compromise oligomerization and activity of the final protein
    • Larsen F, Madsen HO, Sim RB, Koch C, Garred P. Disease-associated mutations in human mannose-binding lectin compromise oligomerization and activity of the final protein. J Biol Chem 2004 : 279 : 21302 21311.
    • (2004) J Biol Chem , vol.279 , pp. 21302-21311
    • Larsen, F.1    Madsen, H.O.2    Sim, R.B.3    Koch, C.4    Garred, P.5
  • 5
    • 1842740356 scopus 로고    scopus 로고
    • Localization of the serine protease-binding sites in the collagen-like domain of mannose-binding protein: Indirect effects of naturally occurring mutations on protease binding and activation
    • Wallis R, Shaw JM, Uitdehaag J, Chen CB, Torgersen D, Drickamer K. Localization of the serine protease-binding sites in the collagen-like domain of mannose-binding protein: indirect effects of naturally occurring mutations on protease binding and activation. J Biol Chem 2004 : 279 : 14065 14073.
    • (2004) J Biol Chem , vol.279 , pp. 14065-14073
    • Wallis, R.1    Shaw, J.M.2    Uitdehaag, J.3    Chen, C.B.4    Torgersen, D.5    Drickamer, K.6
  • 6
    • 0029045792 scopus 로고
    • Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein
    • Madsen HO, Garred P, Thiel S et al. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol 1995 : 155 : 3013 3020.
    • (1995) J Immunol , vol.155 , pp. 3013-3020
    • Madsen, H.O.1    Garred, P.2    Thiel, S.3
  • 8
    • 0032531088 scopus 로고    scopus 로고
    • Different molecular events result in low protein levels of mannan-binding lectin in populations from Southeast Africa and South America
    • Madsen HO, Satz ML, Hogh B, Svejgaard A, Garred P. Different molecular events result in low protein levels of mannan-binding lectin in populations from Southeast Africa and South America. J Immunol 1998 : 161 : 3169 3175.
    • (1998) J Immunol , vol.161 , pp. 3169-3175
    • Madsen, H.O.1    Satz, M.L.2    Hogh, B.3    Svejgaard, A.4    Garred, P.5
  • 9
    • 0036667399 scopus 로고    scopus 로고
    • Using genetic variation to study immunomodulation
    • Chanock S, Taylor JG. Using genetic variation to study immunomodulation. Curr Opin Pharmacol 2002 : 2 : 463 469.
    • (2002) Curr Opin Pharmacol , vol.2 , pp. 463-469
    • Chanock, S.1    Taylor, J.G.2
  • 10
    • 0030008251 scopus 로고    scopus 로고
    • Mutations in the human mannose-binding protein gene: Frequencies in several population groups
    • Lipscombe RJ, Beatty DW, Ganczakowski M et al. Mutations in the human mannose-binding protein gene: frequencies in several population groups. Eur J Hum Genet 1996 : 4 : 13 9.
    • (1996) Eur J Hum Genet , vol.4 , pp. 13-9
    • Lipscombe, R.J.1    Beatty, D.W.2    Ganczakowski, M.3
  • 11
    • 33746337908 scopus 로고    scopus 로고
    • Association of a new mannose-binding lectin variant with severe malaria in gabonese children
    • Boldt ABW, Luty A, Grobusch MP et al. Association of a new mannose-binding lectin variant with severe malaria in gabonese children. Genes Immun 2006 : 7 : 393 400.
    • (2006) Genes Immun , vol.7 , pp. 393-400
    • Boldt, A.B.W.1    Luty, A.2    Grobusch, M.P.3
  • 12
    • 0027027572 scopus 로고
    • High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene
    • Lipscombe RJ, Sumiya M, Hill AV et al. High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene. Hum Mol Genet 1992 : 1 : 709 715.
    • (1992) Hum Mol Genet , vol.1 , pp. 709-715
    • Lipscombe, R.J.1    Sumiya, M.2    Hill, A.V.3
  • 13
    • 0034738657 scopus 로고    scopus 로고
    • Detection of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by polymerase chain reaction with sequence-specific primers
    • Steffensen R, Thiel S, Varming K, Jersild C, Jensenius JC. Detection of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by polymerase chain reaction with sequence-specific primers. J Immunol Methods 2000 : 241 : 33 42.
    • (2000) J Immunol Methods , vol.241 , pp. 33-42
    • Steffensen, R.1    Thiel, S.2    Varming, K.3    Jersild, C.4    Jensenius, J.C.5
  • 14
    • 0036456891 scopus 로고    scopus 로고
    • Analysis of the relationship between mannose-binding lectin (MBL) genotype, MBL levels and function in an Australian blood donor population
    • Minchinton RM, Dean MM, Clark TR, Heatley S, Mullighan CG. Analysis of the relationship between mannose-binding lectin (MBL) genotype, MBL levels and function in an Australian blood donor population. Scand J Immunol 2002 : 56 : 630 641.
    • (2002) Scand J Immunol , vol.56 , pp. 630-641
    • Minchinton, R.M.1    Dean, M.M.2    Clark, T.R.3    Heatley, S.4    Mullighan, C.G.5
  • 15
    • 0037136413 scopus 로고    scopus 로고
    • Mannan-binding lectin: Clinical significance and applications
    • Kilpatrick DC. Mannan-binding lectin: clinical significance and applications. Biochim Biophys Acta 2002 : 1572 : 401 413.
    • (2002) Biochim Biophys Acta , vol.1572 , pp. 401-413
    • Kilpatrick, D.C.1
  • 17
    • 0036186810 scopus 로고    scopus 로고
    • A new strategy for mannose-binding gene haplotyping
    • Boldt AB, Petzl-Erler ML. A new strategy for mannose-binding gene haplotyping. Hum Mutat 2002 : 9 : 296 306.
    • (2002) Hum Mutat , vol.9 , pp. 296-306
    • Boldt, A.B.1    Petzl-Erler, M.L.2
  • 18
    • 0032829849 scopus 로고    scopus 로고
    • Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: Identification of three new alleles and relationship to infections
    • Neonato MG, Lu CY, Guilloud-Bataille M et al. Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new alleles and relationship to infections. Eur J Hum Genet 1999 : 7 : 679 686.
    • (1999) Eur J Hum Genet , vol.7 , pp. 679-686
    • Neonato, M.G.1    Lu, C.Y.2    Guilloud-Bataille, M.3
  • 20
    • 22544453859 scopus 로고    scopus 로고
    • Clinical manifestations of mannan-binding lectin deficiency
    • Thiel S, Frederiksen PD, Jensenius JC. Clinical manifestations of mannan-binding lectin deficiency. Mol Immunol 2006 : 43 : 86 96.
    • (2006) Mol Immunol , vol.43 , pp. 86-96
    • Thiel, S.1    Frederiksen, P.D.2    Jensenius, J.C.3
  • 21
    • 0035798707 scopus 로고    scopus 로고
    • Substrate specificities of recombinant mannan-binding lectin-associated serine proteases-1 and 2
    • Rossi V, Cseh S, Bally I, Thielens NM, Jensenius JC, Arlaud GJ. Substrate specificities of recombinant mannan-binding lectin-associated serine proteases-1 and 2. J Biol Chem 2001 : 276 : 40880 40887.
    • (2001) J Biol Chem , vol.276 , pp. 40880-40887
    • Rossi, V.1    Cseh, S.2    Bally, I.3    Thielens, N.M.4    Jensenius, J.C.5    Arlaud, G.J.6
  • 22
    • 0034663925 scopus 로고    scopus 로고
    • Distinct pathways of mannan-binding lectin (MBL) and c1-complex autoactivation revealed by reconstitution of MBL with recombinant MBL-associated serine protease-2
    • Vorup-Jensen T, Petersen SV, Hansen AG et al. Distinct pathways of mannan-binding lectin (MBL) and c1-complex autoactivation revealed by reconstitution of MBL with recombinant MBL-associated serine protease-2. J Immunol 2000 : 165 : 2093 2100.
    • (2000) J Immunol , vol.165 , pp. 2093-2100
    • Vorup-Jensen, T.1    Petersen, S.V.2    Hansen, A.G.3
  • 23
    • 0032981215 scopus 로고    scopus 로고
    • Assignment of the gene encoding mannan-binding lectin-associated serine protease 2 (MASP2) to human chromosome 1p36.3-> p36.2 by in situ hybridization and somatic cell hybrid analysis
    • Stover CM, Schwaeble WJ, Lynch NJ, Thiel S, Speicher MR. Assignment of the gene encoding mannan-binding lectin-associated serine protease 2 (MASP2) to human chromosome 1p36.3-> p36.2 by in situ hybridization and somatic cell hybrid analysis. Cytogenet Cell Genet 1999 : 84 : 148 149.
    • (1999) Cytogenet Cell Genet , vol.84 , pp. 148-149
    • Stover, C.M.1    Schwaeble, W.J.2    Lynch, N.J.3    Thiel, S.4    Speicher, M.R.5
  • 24
    • 3142733778 scopus 로고    scopus 로고
    • The x-ray structure of human mannan-binding lectin-associated protein 19 (MAP19) and its interaction site with mannan-binding lectin and L-ficolin
    • Gregory LA, Thielens NM, Matsushita M et al. The x-ray structure of human mannan-binding lectin-associated protein 19 (MAP19) and its interaction site with mannan-binding lectin and L-ficolin. J Biol Chem 2004 : 279 : 29391 29397.
    • (2004) J Biol Chem , vol.279 , pp. 29391-29397
    • Gregory, L.A.1    Thielens, N.M.2    Matsushita, M.3
  • 25
    • 14044278783 scopus 로고    scopus 로고
    • The two major oligomeric forms of human mannan-binding lectin: Chemical characterization, carbohydrate-binding properties, and interaction with MBL-associated serine proteases
    • Teillet F, Dublet B, Andrieu JP, Gaboriaud C, Arlaud GJ, Thielens NM. The two major oligomeric forms of human mannan-binding lectin: chemical characterization, carbohydrate-binding properties, and interaction with MBL-associated serine proteases. J Immunol 2005 : 174 : 2870 2877.
    • (2005) J Immunol , vol.174 , pp. 2870-2877
    • Teillet, F.1    Dublet, B.2    Andrieu, J.P.3    Gaboriaud, C.4    Arlaud, G.J.5    Thielens, N.M.6
  • 26
    • 27844451895 scopus 로고    scopus 로고
    • Mannan-binding-lectin-associated serine proteases, characteristics and disease associations
    • Sorensen R, Thiel S, Jensenius JC. Mannan-binding-lectin-associated serine proteases, characteristics and disease associations. Springer Semin Immunopathol 2005 : 27 : 299 319.
    • (2005) Springer Semin Immunopathol , vol.27 , pp. 299-319
    • Sorensen, R.1    Thiel, S.2    Jensenius, J.C.3
  • 28
    • 22644446953 scopus 로고    scopus 로고
    • Novel MASP2 variants detected among north African and sub-Saharan individuals
    • Lozano F, Suárez B, Muñoz A et al. Novel MASP2 variants detected among north African and sub-Saharan individuals. Tissue Antigens 2005 : 66 : 131 135.
    • (2005) Tissue Antigens , vol.66 , pp. 131-135
    • Lozano, F.1    Suárez, B.2    Muñoz, A.3
  • 29
    • 33847771446 scopus 로고    scopus 로고
    • Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms
    • Thiel S, Steffensen R, Christensen IJ et al. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. Genes Immun 2007 : 8 : 154 163.
    • (2007) Genes Immun , vol.8 , pp. 154-163
    • Thiel, S.1    Steffensen, R.2    Christensen, I.J.3
  • 30
    • 33845739662 scopus 로고    scopus 로고
    • Levels and trends of demographic indices in southern rural Mozambique: Evidence from demographic surveillance in Manhiça district
    • Nhacolo AQ, Nhalungo DA, Sacoor CN, Aponte JJ, Thompson R, Alonso P. Levels and trends of demographic indices in southern rural Mozambique: evidence from demographic surveillance in Manhiça district. BMC Public Health 2006 : 11 : 1741 1748.
    • (2006) BMC Public Health , vol.11 , pp. 1741-1748
    • Nhacolo, A.Q.1    Nhalungo, D.A.2    Sacoor, C.N.3    Aponte, J.J.4    Thompson, R.5    Alonso, P.6
  • 31
    • 0027968068 scopus 로고
    • ClustalW: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ. ClustalW: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 1994 : 22 : 4673 4680.
    • (1994) Nucleic Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3
  • 32
    • 0347513220 scopus 로고    scopus 로고
    • DNAsp, DNA polymorphism analyses by the coalescent and other methods
    • Rozas J, Sanchez-Delbarrio JC, Messeguer X, Rozas R. DNAsp, DNA polymorphism analyses by the coalescent and other methods. Bioinformatics 2003 : 19 : 2496 2497.
    • (2003) Bioinformatics , vol.19 , pp. 2496-2497
    • Rozas, J.1    Sanchez-Delbarrio, J.C.2    Messeguer, X.3    Rozas, R.4
  • 33
    • 27544497650 scopus 로고    scopus 로고
    • Calibrating a coalescent simulation of human genome sequence variation
    • DOI 10.1101/gr.3709305
    • Schaffner SF, Foo C, Gabriel S, Reich D, Daly MJ, Altshuler D. Calibrating a coalescent simulation of human genome sequence variation. Genome Res 2005 : 15 : 1576 1583. (Pubitemid 41545011)
    • (2005) Genome Research , vol.15 , Issue.11 , pp. 1576-1583
    • Schaffner, S.F.1    Foo, C.2    Gabriel, S.3    Reich, D.4    Daly, M.J.5    Altshuler, D.6
  • 34
    • 13844313862 scopus 로고    scopus 로고
    • Whole-genome patterns of common DNA variation in three human populations
    • Hinds DA, Stuve LL, Nilsen GB et al. Whole-genome patterns of common DNA variation in three human populations. Science 2005 : 307 : 1072 1079.
    • (2005) Science , vol.307 , pp. 1072-1079
    • Hinds, D.A.1    Stuve, L.L.2    Nilsen, G.B.3
  • 35
    • 0029415835 scopus 로고
    • Divergence time and population size in the lineage leading to modern humans
    • Takahata N, Satta Y, Klein J. Divergence time and population size in the lineage leading to modern humans. Theor Popul Biol 1995 : 48 : 198 221.
    • (1995) Theor Popul Biol , vol.48 , pp. 198-221
    • Takahata, N.1    Satta, Y.2    Klein, J.3
  • 36
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001 : 68 : 978 989.
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 37
    • 0032900678 scopus 로고    scopus 로고
    • Median-joining networks for inferring intraspecific phylogenies
    • Bandelt HJ, Forster P, Rohl A. Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 1999 : 16 : 37 48.
    • (1999) Mol Biol Evol , vol.16 , pp. 37-48
    • Bandelt, H.J.1    Forster, P.2    Rohl, A.3
  • 38
    • 0035871632 scopus 로고    scopus 로고
    • Interaction properties of human manna-binding lectin (MBL)-associated serine proteases-1 and -2, MBL-associated protein 19, and MBL
    • Thielens NM, Cseh S, Thiel S et al. Interaction properties of human manna-binding lectin (MBL)-associated serine proteases-1 and -2, MBL-associated protein 19, and MBL. J Immunol 2001 : 166 : 5068 5077.
    • (2001) J Immunol , vol.166 , pp. 5068-5077
    • Thielens, N.M.1    Cseh, S.2    Thiel, S.3
  • 39
    • 54449087793 scopus 로고    scopus 로고
    • Crystal structure of the CUB1-EFG-CUB2 domain of human MASP-1/3 and identification of its interaction sites with mannan-binding lectin and ficolins
    • Teillet F, Gaboriaud C, Lacroix M, Martin L, Arlaud GJ, Thielens NM. Crystal structure of the CUB1-EFG-CUB2 domain of human MASP-1/3 and identification of its interaction sites with mannan-binding lectin and ficolins. J Biol Chem 2008 : 283 : 25715 25724.
    • (2008) J Biol Chem , vol.283 , pp. 25715-25724
    • Teillet, F.1    Gaboriaud, C.2    Lacroix, M.3    Martin, L.4    Arlaud, G.J.5    Thielens, N.M.6
  • 40
    • 0037111532 scopus 로고    scopus 로고
    • Characterization of the interaction between L-ficolin/p35 and mannan-binding lectin-associated serine proteases-1 and -2
    • Cseh S, Vera L, Matsushita M, Fujita T, Arlaud GJ, Thielens NM. Characterization of the interaction between L-ficolin/p35 and mannan-binding lectin-associated serine proteases-1 and -2. J Immunol 2002 : 169 : 5735 5743.
    • (2002) J Immunol , vol.169 , pp. 5735-5743
    • Cseh, S.1    Vera, L.2    Matsushita, M.3    Fujita, T.4    Arlaud, G.J.5    Thielens, N.M.6
  • 41
    • 4644308684 scopus 로고    scopus 로고
    • Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection
    • Bernig T, Taylor JG, Foster CB, Staats B, Yeager M, Chanock SJ. Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection. Genes Immun 2004 : 5 : 461 476.
    • (2004) Genes Immun , vol.5 , pp. 461-476
    • Bernig, T.1    Taylor, J.G.2    Foster, C.B.3    Staats, B.4    Yeager, M.5    Chanock, S.J.6
  • 42
    • 33747892638 scopus 로고    scopus 로고
    • Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles
    • Verdu P, Barreiro LB, Patin E et al. Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles. Hum Mol Genet 2006 : 15 : 2650 2658.
    • (2006) Hum Mol Genet , vol.15 , pp. 2650-2658
    • Verdu, P.1    Barreiro, L.B.2    Patin, E.3
  • 43
    • 23844486704 scopus 로고    scopus 로고
    • Human M-ficolin is a secretory protein that activates the lectin complement pathway
    • Liu Y, Endo Y, Iwaki D et al. Human M-ficolin is a secretory protein that activates the lectin complement pathway. J Immunol 2005 : 175 : 3150 3156.
    • (2005) J Immunol , vol.175 , pp. 3150-3156
    • Liu, Y.1    Endo, Y.2    Iwaki, D.3


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