Molecular genetics of the fourth component of human complement
Journal Article
·
· Fed. Proc., Fed. Am. Soc. Exp. Biol.; (United States)
OSTI ID:6859548
The fourth component of complement in humans is coded for by two closely linked loci, i.e., C4A and C4B, that have been positioned within the class III region of the human major histocompatibility complex along with the genes for C2, Bf, and steroid 21-OH. Both C4 loci are highly polymorphic and certain alleles, particularly the nulls, are associated with susceptibility to autoimmune disease. About one-half of the null alleles are due to a large deletion that includes both a C4 and flanking 21-OH gene. Despite the near identity of the products of the two loci, the proteins differ dramatically in their efficiency of covalent binding to antigen. The amino acid substitutions responsible for the functional differences have been identified and they are clustered relatively near the covalent binding site within the C4d region of the ..cap alpha.. chain. These observations support the hypothesis that the susceptibility to autoimmune disease is related to the structural variation of the C4 protein.
- Research Organization:
- Harvard Medical School, Boston, MA (USA)
- OSTI ID:
- 6859548
- Journal Information:
- Fed. Proc., Fed. Am. Soc. Exp. Biol.; (United States), Journal Name: Fed. Proc., Fed. Am. Soc. Exp. Biol.; (United States) Vol. 46:7; ISSN FEPRA
- Country of Publication:
- United States
- Language:
- English
Similar Records
Substitution of a single amino acid (aspartic acid for histidine) converts the functional activity of human complement C4B to C4A
Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency
Molecular modeling of human complement component C4 and its fragments by X-ray and neutron solution scattering
Journal Article
·
Sat Sep 01 00:00:00 EDT 1990
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
·
OSTI ID:5452077
Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency
Journal Article
·
Wed Feb 28 23:00:00 EST 1990
· Proceedings of the National Academy of Sciences of the United States of America; (USA)
·
OSTI ID:6072038
Molecular modeling of human complement component C4 and its fragments by X-ray and neutron solution scattering
Journal Article
·
Mon Feb 05 23:00:00 EST 1990
· Biochemistry; (USA)
·
OSTI ID:6828388