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The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2–3

Genes & Immunity volume 2, pages 119–127 (2001)Cite this article

Abstract

The proteases of the lectin pathway of complement activation, MASP-1 and MASP-2, are encoded by two separate genes. The MASP1 gene is located on chromosome 3q27, the MASP2 gene on chromosome 1p36.23–31. The genes for the classical complement activation pathway proteases, C1r and C1s, are linked on chromosome 12p13. We have shown that the MASP2 gene encodes two gene products, the 76 kDa MASP-2 serine protease and a plasma protein of 19 kDa, termed MAp19 or sMAP. Both gene products are components of the lectin pathway activation complex. We present the complete primary structure of the human MASP2 gene and the tight cluster that this locus forms with non-complement genes. A comparison of the MASP2 gene with the previously characterised C1s gene revealed identical positions of introns separating orthologous coding sequences, underlining the hypothesis that the C1s and MASP2 genes arose by exon shuffling from one ancestral gene.

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Acknowledgements

We wish to thank The International Institute for the Advancement of Medicine, University of Leicester for kindly providing the non-tumorous human liver specimen used in this study. We acknowledge the expertise of Cathy Summer (Research Genetics, Huntsville, Alabama, USA) in isolating the MASP-2 specific human BAC clone RP11–99P18 (AJ300188). The authors also wish to thank the Sanger Mapping and Sequence groups for the sequence production of RP4–635E18 (AL109811). Guelnihal Yueksekdag is acknowledged for excellent technical support. We especially thank Dr Jim Kaufman (Institute of Animal Health, Compton, England) for his inspiring comments.

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Authors and Affiliations

  1. Department of Microbiology and Immunology, University of Leicester, Leicester, UK

    C Stover, NJ Lynch, C Constantinescu & W Schwaeble

  2. Department of Biochemistry, Fukushima Medical University, School of Medicine, Fukushima, Japan

    Y Endo, M Takahashi & T Fujita

  3. Department of Medical Microbiology and Immunology, The Bartholin Building, University of Århus, Århus, Denmark

    T Vorup-Jensen & S Thiel

  4. Genterprise, Institut für Molekulargenetik und Gentechnische Sicherheit, Johannes Gutenberg University Mainz, Mainz, Germany

    H Friedl & T Hankeln

  5. The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK

    R Hall & S Gregory

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  1. C Stover
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Corresponding author

Correspondence to W Schwaeble.

Additional information

This work was supported by the Wellcome Trust, the German Research Foundation (Deutsche Forschungsgemeinschaft), the Japanese Society for the Promotion of Science, and the EMDO Foundation, Switzerland.

Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under accession numbers AL109811, AB033742, AJ297949, AJ299718, and AJ300188.

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Stover, C., Endo, Y., Takahashi, M. et al. The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2–3 . Genes Immun 2, 119–127 (2001). https://doi.org/10.1038/sj.gene.6363745

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