title: Polymorphism and deficiency of human factor H-related proteins p39 and p37.
abstract: We described previously cDNA clones representing a novel factor H-related 1.4 kilobase mRNA. This mRNA species codes for a doublet of serum proteins of M(r) 39,000 and 37,000 (p39/p37). The respective recombinant proteins of the three clones H-69, pFH1.4a, and pFH1.4b differ in the expression of the epitope recognized by the monoclonal antibody (mAb) 3D11. This probably reflects the difference of three amino acid residues of the deduced protein sequence. Here we report evidence for corresponding alterations in the native proteins p39/p37 in human sera. Employing mAb 3D11 and a polyclonal factor H-specific antiserum we detected three different patterns in western blot analyses of human sera which we provisionally termed FH1.4p+m+, FH1.4p+m-, and FH1.4p-m-. In the first pattern, p39/p37 were recognized by both antibodies, while in the second pattern the two proteins reacted only with the polyclonal antiserum. Both antibodies failed to detect p39/p37 in the third pattern. These phenotypes are found in the healthy population with frequencies of 0.556, 0.40, and 0.044, respectively. The frequencies of the alleles FH1.4*p+m+, FH1.4*p+m-, and FH1.4*p-m- were estimated to be 0.33, 0.46, and 0.21, respectively, assuming the gene distribution to be in Hardy-Weinberg equilibrium. Studies of 98 members from 27 families revealed an autosomal Mendelian inheritance. Southern blot data support our assumption of a polymorphism of the factor H-related proteins p39 and p37.
authors.affiliation: Institut für Hygiene, Leopold-Franzens University, Innsbruck, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Feifel
authors.forename: W M
authors.initials: WM
authors.lastname: Prodinger
authors.forename: M
authors.initials: M
authors.lastname: Mölgg
authors.forename: W
authors.initials: W
authors.lastname: Schwaeble
authors.forename: D
authors.initials: D
authors.lastname: Schönitzer
authors.forename: V
authors.initials: V
authors.lastname: Koistinen
authors.forename: R
authors.initials: R
authors.lastname: Misasi
authors.forename: M P
authors.initials: MP
authors.lastname: Dierich
mesh_terms: D001798:Blood Proteins / Q000172:deficiency / Q000235:genetics* / Q000276:immunology; D015139:Blotting, Southern; D003180:Complement C3b Inactivator Proteins / Q000235:genetics* / Q000276:immunology; D017242:Complement Factor H; D015870:Gene Expression; D005796:Genes; D006801:Humans; D008970:Molecular Weight; D010641:Phenotype; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D001798:Blood Proteins; C493495:CFH protein, human; D003180:Complement C3b Inactivator Proteins; D012333:RNA, Messenger; C075242:factor H-related protein p37; C075243:factor H-related protein p39; D017242:Complement Factor H