Issue October 2001

category image Volume 19
No. 2 (p 193-364)
October 2001
ISSN 0739-1102

Intramolecular i-motif Structure at Acidic pH for Progressive Myoclonus Epilepsy [EPM1] Repeat d(CCCCGCCCCGCG)n (p. 307-314)

The most common mutation associated with Progressive Myoclonus Epilepsy (EPM1) of Unverricht-Lundberg type is the expansion of a dodecamer repeat, d(CCCCGCCCCGCG)n. We show that the C-rich strand of this repeat (2-3 copies) forms intercalated i-motif structure at acidic pH as judged by CD spectroscopy and anomalous gel electrophoretic mobility. The stability of the structure increases with the increase in the length of the repeat. Transient formation of stable, folded back structure like i-motif could play an important role in the mechanism of expansion of this repeat.

Shashank S. Pataskar1
Debasis Dash2
Samir K. Brahmachari1,2*

1Molecular Biophysics Unit
Indian Institute of Science
Bangalore-560 012, India
2Functional Genomics Unit
Centre for Biochemical Technology, CSIR
Delhi-110007, India
*skb@cbt.res.in

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