ORCID Profile
0000-0003-3803-3329
Current Organisations
Istituto Di Ricerche Farmacologiche Mario Negri
,
University of Cambridge
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Publisher: Springer Science and Business Media LLC
Date: 11-2004
DOI: 10.1007/S00335-004-3006-8
Abstract: The mouse, rat, and human MASP2 loci are situated on syntenic chromosome regions and are highly conserved. They comprise the genes for MASP-2/ MAp19, TAR DNA binding protein of 43 kDa, FRAP kinase, CDT6, Polymyositis-Scleroderma 100-kDa autoantigen, spermidine synthase, and TERE which were analyzed by annotation of available gene transcript data and cross-species comparison of available genomic sequences. The human and rat genes for spermidine synthase have an additional intron compared to the mouse gene. The mouse and rat genes for Polymyositis-Scleroderma 100-kDa autoantigen have an additional exon compared to the human gene. We find support for the hypothesis that the MAp19-specific exon within the MASP2 gene may have originated in a transposable element. Blocks of highly conserved intronic sequences were found in the MASP2 gene and the TARDBP gene. The expression of all genes within the MASP2 locus was analyzed in mouse and rat. The restricted expression of MASP-2 and MAp19 mRNA in liver contrasts with the ubiquitous expression of all neighboring genes studied.
Publisher: Springer Science and Business Media LLC
Date: 05-2001
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.
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Nicholas Lynch.