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Evolution and organization of the human protein C gene.
We have isolated overlapping phage genomic clones covering an area of 21 kilobases that encodes the human protein C gene. The gene is at least 11.2 kilobases long and is made up of nine exons and eight introns. Two regions homologous to epidermal growth factor and transforming growth factor are encoded by amino acids 46-91 and 92-136 and are precisely delimited by introns, as is a similar sequence in the genes for coagulation factor IX and tissue plasminogen activator. When homologous amino acids of factor IX and protein C are aligned, the positions of all eight introns correspond precisely, suggesting that these genes are the product of a relatively recent gene duplication. Nevertheless, the two genes are sufficiently distantly related that no nucleic acid homology remains in the intronic regions and that the size of the introns varies dramatically between the two genes. The similarity of the genes for factor IX and protein C suggests that they may be the most closely related members of the serine protease gene family involved in coagulation and fibrinolysis.
PMID: 3511471 [PubMed - indexed for MEDLINE]
PMCID: PMC322900
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Cited by 10 PubMed Central articles
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Unique distance- and DNA-turn-dependent interactions in the human protein C gene promoter confer submaximal transcriptional activity.
Spek CA, Bertina RM, Reitsma PH.
Biochem J. 1999 Jun 1; 340 ( Pt 2):513-8.
[Biochem J. 1999]
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An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency.
Hasstedt SJ, Bovill EG, Callas PW, Long GL.
Am J Hum Genet. 1998 Aug; 63(2):569-76.
[Am J Hum Genet. 1998]
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Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation.
O'Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, Murray MJ.
Proc Natl Acad Sci U S A. 1987 Aug; 84(15):5158-62.
[Proc Natl Acad Sci U S A. 1987]
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