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Organization, expression and polymorphism of the human persyn gene
N N Ninkina1, M V Alimova-Kost, J W Paterson
1School of Biomedical Sciences, University of St Andrews, Bute Medical Buildings, St Andrews, Fife KY16 9TS, UK.
Human Molecular Genetics
|August 13, 1998
Summary
Persyn protein levels increase in aging brain and breast tumors. Overexpression of wild-type persyn, not mutations, correlates with breast tumor development.
Area of Science:
- Neuroscience
- Oncology
- Genetics
Background:
- Persyn, a synuclein family member, is implicated in neurodegenerative diseases.
- Distinct expression patterns in developing nervous systems suggest unique roles.
- Elevated persyn mRNA in breast carcinomas hints at involvement in tumor progression.
Purpose of the Study:
- To investigate persyn protein levels in aging brain and breast tumors.
- To characterize the human persyn gene locus and search for mutations in breast cancer.
Main Methods:
- Utilized a persyn-specific antibody to quantify protein levels.
- Cloned, characterized, and sequenced the human persyn genomic locus.
- Analyzed coding regions of persyn mRNA and gene for mutations in breast tumors.
Main Results:
- Persyn protein levels are elevated in aging cerebral cortex and breast tumors.
- Human persyn gene localized to chromosome 10q23.2-q23.3.
- No tumor-specific mutations found; two linked polymorphisms identified in coding regions.
Conclusions:
- Breast tumor development correlates with overexpression of wild-type persyn protein.
- Further characterization of the persyn locus is crucial for understanding its role in neurodegeneration and malignancy.