Journal Article

Organization, Expression and Polymorphism of the Human <i>Persyn</i> Gene

Natalia N. Ninkina, Maria V. Alimova-Kost, James W. E. Paterson, Liz Delaney, Brian B. Cohen, Stefan Imreh, Nikolai V. Gnuchev, Alun M. Davies and Vladimir L. Buchman

in Human Molecular Genetics

Volume 7, issue 9, pages 1417-1424
Published in print September 1998 | ISSN: 0964-6906
Published online September 1998 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/7.9.1417
Organization, Expression and Polymorphism of the Human Persyn Gene

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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 neuro-degeneration and malignancy.

Journal Article.  5823 words.  Illustrated.

Subjects: Genetics and Genomics

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