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PMID:9652403

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Citation

Lener, M, Vinci, G, Duponchel, C, Meo, T and Tosi, M (1998) Molecular cloning, gene structure and expression profile of mouse C1 inhibitor. Eur. J. Biochem. 254:117-22

Abstract

The gene encoding C1 inhibitor, the major control element of activation of the classical pathway of complement and a major inhibitor of several plasma serine proteases, has been studied only in man, where deficiency of C1 inhibitor results in the dominantly transmitted disease hereditary angioedema. Full-length mouse C1 inhibitor cDNA and genomic clones were isolated and characterized as a first step towards the complete characterization of the pattern of C1 inhibitor expression and the production of an animal model of C1 inhibitor deficiency. Restriction-enzyme and sequence analyses of a full-length genomic clone demonstrated that the mouse gene has the same structure as the human homologue, but differs in size (9 kb versus 17 kb), mostly due to the presence of repetitive Alu elements in the human gene. Sequence comparisons in the promoter region indicate important similarities, i.e. the absence of a TATA box, the presence of an initiator sequence encompassing the transcription-start site and of a gamma-interferon-activated sequence (GAS) element at position -124 of the human sequence. A stretch of about 100 nucleotides in intron 1 reveals an unusually high degree of conservation for non-coding sequences and contains non-canonical but conserved tandemly arranged GAS elements at positions 369 and 388 of the human sequence. This finding supports the conclusions of functional studies on the human C1INH gene indicating a role of this region in modulation of transcription by interferons. The profile of C1 inhibitor expression in mouse liver, lung, heart, kidney, spleen and brain was determined by quantitative northern blot analysis.

Links

PubMed

Keywords

Animals; Binding Sites/genetics; Cloning, Molecular; Complement C1 Inactivator Proteins/chemistry; Complement C1 Inhibitor Protein; Conserved Sequence/genetics; Mice; Molecular Sequence Data; Protein Binding/physiology; RNA, Messenger/metabolism; Restriction Mapping; Sequence Alignment; Sequence Analysis, DNA; Serine Proteinase Inhibitors/chemistry

Significance

Annotations

Gene product Qualifier GO ID GO term name Evidence Code with/from Aspect Notes Status


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References

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