Abstract 1084 Modeling of G4C2/C4G2 repeats in Schizosaccharomyces pombe and expansion study in replicating condition

Hexanucleotide DNA Repeats (HER) expansion on chromosome 9 orf 72(C9orf72) exon1a-1b is one of the major drivers in developing sporadic and familial forms of amyotrophic lateral sclerosis (ALS)/ frontotemporal degeneration (FTD) neurological disorder. These HER expansions extend upto 4000 repeats and translated via Repeat-associated non-AUG (RAN) pathway into five toxic Dipeptide Repeat (poly-GA, poly-GR, poly-PA, poly-PR, and poly- GP) which creates genome instabilities. The concept of genomic instability in neurodegenerative disease has been fuelled by the identification of expanded repeated sequences whose stability and behavior has been investigated in dividing cells but rarely in quiescent cells.