Human Molecular Genetics, Vol 7, 1417-1424, Copyright © 1998 by Oxford University Press
NN Ninkina, MV Alimova-Kost, JW Paterson, L Delaney, BB Cohen, S Imreh, NV Gnuchev, AM Davies and VL Buchman
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.
ARTICLES
Organization, expression and polymorphism of the human persyn gene
School of Biomedical Sciences, University of St Andrews, Bute Medical Buildings, St Andrews, Fife KY16 9TS, UK.
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