Literature DB >> 8512929

Structure of the human C6 gene.

M J Hobart1, B Fernie, R G DiScipio.   

Abstract

The terminal components of the complement system (C6-C9) are related proteins, differing in size and complexity. They seem to be typical mosaic proteins, composed of modules which are homologous with parts of other proteins. Individual elements in a mosaic protein are often bounded by introns in the gene, and where they are duplicated within a polypeptide, partial gene duplication within the gene is responsible. It is often found in such genes that the intron/exon boundaries are of the class 1 type. We have examined the boundaries of 17 of the 18 exons of C6 and five of C7. When considered with published data for C9, only one of the protein elements appears to follow the conventional pattern. These data suggest a more complex evolutionary history for the genes of the terminal complement components than had been anticipated and challenge the notions both that discovery of a recognized protein module is of predictive value in relation to gene structure and that these genes evolved from the simple to the complex.

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Year:  1993        PMID: 8512929     DOI: 10.1021/bi00075a012

Source DB:  PubMed          Journal:  Biochemistry        ISSN: 0006-2960            Impact factor:   3.162


  11 in total

1.  Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.

Authors:  Aydan Ikinciogullari; Mustafa Tekin; Figen Dogu; Ismail Reisli; Gonul Tanir; Zanhua Yi; Nanibaa Garrison; Murray H Brilliant; Emel Babacan
Journal:  Eur J Pediatr       Date:  2004-11-23       Impact factor: 3.183

Review 2.  Membrane attack by complement: the assembly and biology of terminal complement complexes.

Authors:  Cosmin A Tegla; Cornelia Cudrici; Snehal Patel; Richard Trippe; Violeta Rus; Florin Niculescu; Horea Rus
Journal:  Immunol Res       Date:  2011-10       Impact factor: 2.829

3.  Molecular defects leading to human complement component C6 deficiency in an African-American family.

Authors:  Z B Zhu; K Totemchokchyakarn; T P Atkinson; J E Volanakis
Journal:  Clin Exp Immunol       Date:  1998-01       Impact factor: 4.330

4.  Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency.

Authors:  Philip H Li; William Wy Wong; Evelyn Ny Leung; Chak-Sing Lau; Elaine Au
Journal:  Clin Transl Immunology       Date:  2020-07-08

5.  Genomic organization of human complement protein C8 alpha and further examination of its linkage to C8 beta.

Authors:  G A Michelotti; J V Snider; J M Sodetz
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

6.  C6 haplotypes: associations of a Dde I site polymorphism to complement deficiency genes and the Msp I restriction fragment length polymorphism (RFLP)

Authors:  B A Fernie; M J Hobart; G Delbridge; P C Potter; A Orren; P J Lachmann
Journal:  Clin Exp Immunol       Date:  1994-02       Impact factor: 4.330

7.  Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

Authors:  R Würzner; M J Hobart; B A Fernie; D Mewar; P C Potter; A Orren; P J Lachmann
Journal:  J Clin Invest       Date:  1995-04       Impact factor: 14.808

8.  Paradoxical reconstitution of complement activity following plasma transfusion of an individual with deficiency of the seventh component of complement.

Authors:  A E Platonov; R Würzner; B Beloborodov; A M Jones; D V Troshansky; I V Vershinina; P J Lachmann; A Orren
Journal:  Immunology       Date:  1994-01       Impact factor: 7.397

9.  Restricted genetic defects underlie human complement C6 deficiency.

Authors:  M A Dragon-Durey; V Fremeaux-Bacchi; J Blouin; D Barraud; W H Fridman; M D Kazatchkine
Journal:  Clin Exp Immunol       Date:  2003-04       Impact factor: 4.330

10.  Hepatocyte nuclear factor 1alpha controls the expression of terminal complement genes.

Authors:  M Pontoglio; M Pausa; A Doyen; B Viollet; M Yaniv; F Tedesco
Journal:  J Exp Med       Date:  2001-12-03       Impact factor: 14.307

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