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Volume 271, Number 10, Issue of March 8, 1996 pp. 5824-5831
©1996 by The American Society for Biochemistry and Molecular Biology, Inc.
Type II Human Complement C2 Deficiency
ALLELE-SPECIFIC AMINO ACID SUBSTITUTIONS (Ser Phe; Gly Arg) CAUSE IMPAIRED C2 SECRETION

(Received for publication, September 1, 1995; and in revised form, November 6, 1995)

Rick A. Wetsel ,  Judit Kulics,  Marja-Liisa Lokki ,  Photini Kiepiela,  Hideto Akama ,  Charles A. C. Johnson,  Peter Densen ,  Harvey R. Colten

Type II complement protein C2 deficiency is characterized by a selective block in C2 secretion. The Type II C2 null allele (C2Q0) is linked to two major histocompatibility haplotypes (MHC) that differ from the MHC of the more common Type I C2 deficiency. To determine the molecular basis of Type II deficiency the two Type II C2Q0 genes were isolated and transfected separately into L-cells. Subsequent molecular biology, biosynthetic, and immunofluorescence studies demonstrated that C2 secretion is impaired in Type II C2 deficiency because of different missense mutations at highly conserved residues in each of the C2Q0 alleles. One is in exon 5 (nucleotide C T; Ser Phe) of the C2Q0 gene linked to the MHC haplotype A11,B35,DRw1,BFS, C4A0B1. The other is in exon 11 (G A; Gly Arg) of the C2Q0 gene linked to the MHC haplotype A2,B5, DRw4,BFS,C4A3B1. Each mutant C2 gene product is retained early in the secretory pathway. These mutants provide models for elucidating the C2 secretory pathway.



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