The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene

Christine Skerka, Peter F. Zipfel, Jo Ann M. Moulds, Patricia Taillon-Miller, Dennis Hourcade

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

The human factor H-related gene 2 (FHR2) encodes a serum protein structurally and immunologically related to complement factor H. We describe the isolation and genomic organization of the human FHR2 gene from a yeast artificial chromosome library. The FHR2 gene is organized in five exosn and span about 7 kilobases (kb) of human genomic DNA. A comparison with the corresponding cDNA sequence (clone DDESK59) shows that the analyzed FHR2 gene has a deleted region within exon 4. A new splice acceptor site created in the truncated exon indicates that the analyzed gene could be translated to a truncated protein. Further, we demonstrate that the genes for FHR2 and β subunit of coagulation factor XIII are located in the same 165 kb YAC DNA. Thus, the three structurally related genes FXIIIb, FHR2, and factor H are linked on human chromosome 1 in the regulators of complement activiation (RCA) gene cluster. The physical linkage of the FHR2 and the factor H genes provides additional evidence for a close relatedness of complement factor H and the factor H-related proteins. The linkage and the almost exclusive organization in short consensus repeat-containing domains indicates a close evolutionary relationship of the FXIIIb, FHR2, and factor H genes.

Original languageEnglish
Pages (from-to)268-274
Number of pages7
JournalImmunogenetics
Volume42
Issue number4
DOIs
StatePublished - Aug 1995

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