Tetraplex formation by the progressive myoclonus epilepsy type‐1 repeat: implications for instability in the repeat expansion diseases

FEBS Letters

Usdin, Karen¹  Saha, Tapas¹ 

[1] Section on Genomic Structure and Function, Laboratory of Molecular and Cellular Biology, National Institute of Diabetes and Kidney Diseases, Building 8, Room 202, National Institutes of Health, 8 CENTER DR MSC 0830, Bethesda, MD 20892-0830, USA

关键词: Repeat expansion;    DNA structure;    Instability;   

DOI  :  10.1016/S0014-5793(01)02190-1

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

The repeat expansion diseases are a group of genetic disorders resulting from an increase in size or expansion of a specific array of tandem repeats. It has been suggested that DNA secondary structures are responsible for this expansion. If this is so, we would expect that all unstable repeats should form such structures. We show here that the unstable repeat that causes progressive myoclonus epilepsy type-1 (EPM1), like the repeats associated with other diseases in this category, forms a variety of secondary structures. However, EPM1 is unique in that tetraplexes are the only structures likely to form in long unpaired repeat tracts under physiological conditions.

【 授权许可】

Unknown