| Missense polymorphism (C/T224) in the human cathepsin D pro-fragment determined by polymerase chain reaction--single strand conformational polymorphism analysis and possible consequences in cancer cells. | |
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MedLine Citation:
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PMID: 8204364 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Overexpression of cathepsin D in human breast cancers is associated with a higher risk of relapse and metastasis. Also, pro-enzyme routing is altered in several tumoral mammary cell lines, leading to its hypersecretion. MCF7 cells compared to normal kidney carry a C-->T transition at position 224 in the cathepsin D gene which converts Ala to valine in its pro-fragment. Using polymerase chain reaction-single strand conformational polymorphism analysis (PCR-SSCP), the variant T allele frequency was found to be 23-30%, and equally distributed in cancer and normal cells. Six to nine per cent of genotypes were homozygous T/T, 34-41% were heterozygous T/C and 50-59% were homozygous C/C. Moreover, genotypes were identical in 19 out of 20 matched sets of tumoral mammary cells and normal white blood cells from the same patients. Loss of heterozygosity was noted in 1 case. C/T224 transition is thus not due to a somatic event. However, this missense polymorphism might modify procathepsin D secretion and/or maturation in breast cancer cells. |
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Authors:
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I Touitou; F Capony; J P Brouillet; H Rochefort |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: European journal of cancer (Oxford, England : 1990) Volume: 30A ISSN: 0959-8049 ISO Abbreviation: Eur. J. Cancer Publication Date: 1994 |
Date Detail:
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Created Date: 1994-07-13 Completed Date: 1994-07-13 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9005373 Medline TA: Eur J Cancer Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 390-4 Citation Subset: IM |
Affiliation:
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Unité Hormones et Cancer (U148) INSERM, University of Montpellier 1, Department of Cell Biology, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Base Sequence Breast Neoplasms / enzymology, genetics* Cathepsin D / biosynthesis, genetics* Female Gene Frequency Humans Molecular Sequence Data Mutation Polymerase Chain Reaction Polymorphism, Genetic / genetics* Tumor Cells, Cultured |
| Chemical | |
Reg. No./Substance:
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EC 3.4.23.5/Cathepsin D |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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