| 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 |
Related Documents
:
|
9686343 - Molecular genetic research into carbamoyl-phosphate synthase i: molecular defects and l... 14517693 - Hereditary spherocytosis: identification of several hs families with ankyrin and band 3... 11028103 - Genetic modification of mammalian genome at chromosome level. |
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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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
Previous Document: Histidase and histidinemia. Clinical and molecular considerations.
Next Document: Effect of cholera toxin on L-[14C]glycine uptake and intestinal cell enzymes in rabbit.