Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Romeo, G. et al.

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

The structure of the gene for protein C, an anticoagulant serine protease, was analyzed in 29 unrelated patients with hereditary thrombophilia and protein C deficiency. Gene deletion(s) or gross rearrangement(s) was not demonstrable by Southern blot hybridization to cDNA probes. However, two unrelated patients showed a variant restriction pattern after Pvu II or BamHI digestion, due to mutations in the last exon: analysis of their pedigrees, including three or seven heterozygotes, respectively, with approximately 50% reduction of both enzymatic and antigen level, showed the abnormal restriction pattern in all heterozygous individuals, but not in normal relatives. Cloning of protein C gene and sequencing of the last exon allowed us to identify a nonsense and a missense mutation, respectively. In the first case, codon 306 ( CGA, arginine) is mutated to an inframe stop codon, thus generating a new Pvu II recognition site. In the second case, a missense mutation in the BamHI palindrome (GGATCC----GCATCC) leads to substitution of a key amino acid (a tryptophan to cysteine substitution at position 402), invariantly conserved in eukaryotic serine proteases. These point mutations may explain the protein C-deficiency phenotype of heterozygotes in the two pedigrees.[1]

References

Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. Romeo, G., Hassan, H.J., Staempfli, S., Roncuzzi, L., Cianetti, L., Leonardi, A., Vicente, V., Mannucci, P.M., Bertina, R., Peschle, C. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]

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