Document Detail


Molecular basis of prolidase (peptidase D) deficiency.
MedLine Citation:
PMID:  1943683     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Human prolidase (PEPD, iminodipeptidase, EC 3.4.13.9) and related deficiencies were analyzed in terms of the nature and molecular biology of the enzyme and the molecular events seen in patients with this deficiency. The analyses were based on findings concerning isolation of the enzyme, development of specific antibodies and molecular cloning of cDNA and genome DNA of human prolidase. The studies revealed that human prolidase is a homo-dimer of an identical subunit 492 amino acid residues. The gene for prolidase (PEPD gene) was localized on chromosome 19, spanned more than 130 x 10(3) base-pairs and split into 15 exons. Molecular defects in prolidase deficiency were then analyzed. Two patients with the polypeptide-positive phenotype of the disease carried a mis-sense mutation of exon 12. Two siblings with a polypeptide-negative phenotype carried a gene deletion that encompassed exon 14. These mutations were not found in ten other patients with the disease, hence the molecular defects in prolidase deficiency are apparently highly heterogeneous.
Authors:
F Endo; I Matsuda
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Molecular biology & medicine     Volume:  8     ISSN:  0735-1313     ISO Abbreviation:  Mol. Biol. Med.     Publication Date:  1991 Feb 
Date Detail:
Created Date:  1991-12-17     Completed Date:  1991-12-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8403879     Medline TA:  Mol Biol Med     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  117-27     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Kumamoto University Medical School, Japan.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Chromosome Mapping
Cloning, Molecular
DNA / genetics
DNA Mutational Analysis
Dipeptidases / deficiency*,  genetics*
Humans
Molecular Sequence Data
Phenotype
Chemical
Reg. No./Substance:
9007-49-2/DNA; EC 3.4.13.-/Dipeptidases; EC 3.4.13.9/proline dipeptidase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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