A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency

S Kikuchi; A Tanoue; F Endo; S Wakasugi; N Matsuo; G Tsujimoto

doi:10.1007/s100380050023

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency

J Hum Genet. 2000;45(2):102-4. doi: 10.1007/s100380050023.

Authors

S Kikuchi¹, A Tanoue, F Endo, S Wakasugi, N Matsuo, G Tsujimoto

Affiliation

¹ Department of Molecular and Cellular Pharmacology, National Children's Medical Research Center, Tokyo, Japan.

PMID: 10721675
DOI: 10.1007/s100380050023

Abstract

A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
Blotting, Western
Cells, Cultured
Codon, Nonsense*
DNA Mutational Analysis
Dipeptidases / deficiency
Dipeptidases / genetics*
Fibroblasts / enzymology
Genotype
Humans
Phenotype
Point Mutation
Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction

Substances

Codon, Nonsense
Dipeptidases
proline dipeptidase