| Organization, expression and polymorphism of the human persyn gene. | |
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MedLine Citation:
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PMID: 9700196 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Persyn is a recently identified member of the synuclein family with a distinct pattern of expression during pre- and postnatal development of the mouse peripheral and central nervous systems. As with other synucleins, persyn is believed to be involved in the pathogenesis of human neurodegenerative diseases. However, in contrast to other synucleins, high levels of persyn mRNA expression were also found in advanced breast carcinomas, suggesting an involvement of the encoded protein in breast tumour progression. Here we have used an antibody specific to human persyn to demonstrate that the level of this protein is increased in ageing cerebral cortex and in breast tumours. We cloned, characterized and sequenced the human persyn genomic locus and localized it to the long arm of chromosome 10 in the q23.2-q23.3 region. Sequence information was used to search for specific mutations in the protein coding regions of persyn mRNA and the persyn gene in breast tumours and tumour cell lines. No tumour-specific mutations were found, but two linked polymorphisms in the coding region were detected, both in mRNA and exons III and IV of the gene. These results suggest that development of breast tumours correlates with overexpression of the wild-type persyn protein. Detailed characterization of the human persyn locus is important for further studies of the involvement of persyn in neurodegeneration and malignancy. |
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Authors:
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N N Ninkina; M V Alimova-Kost; J W Paterson; L Delaney; B B Cohen; S Imreh; N V Gnuchev; A M Davies; V L Buchman |
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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: Human molecular genetics Volume: 7 ISSN: 0964-6906 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 1998 Sep |
Date Detail:
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Created Date: 1998-10-16 Completed Date: 1998-10-16 Revised Date: 2009-09-29 |
Medline Journal Info:
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Nlm Unique ID: 9208958 Medline TA: Hum Mol Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 1417-24 Citation Subset: IM |
Affiliation:
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School of Biomedical Sciences, University of St Andrews, Bute Medical Buildings, St Andrews, Fife KY16 9TS, UK. |
| Data Bank Information | |
Bank Name/Acc. No.:
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GENBANK/AF017256; AF037207 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Animals Base Sequence Breast Neoplasms / genetics, metabolism Chromosome Mapping Chromosomes, Human, Pair 10 / genetics Cloning, Molecular DNA / genetics DNA Primers / genetics Female Gene Expression Humans In Situ Hybridization, Fluorescence Mice Molecular Sequence Data Mutation Neoplasm Proteins* Nerve Degeneration / genetics Nerve Tissue Proteins / genetics*, immunology, metabolism Polymerase Chain Reaction Polymorphism, Genetic RNA, Messenger / genetics, metabolism Tumor Cells, Cultured gamma-Synuclein |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/DNA Primers; 0/Neoplasm Proteins; 0/Nerve Tissue Proteins; 0/RNA, Messenger; 0/SNCG protein, human; 0/gamma-Synuclein; 9007-49-2/DNA |
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