scholarly journals ATR protects the genome against CGG{middle dot}CCG-repeat expansion in Fragile X premutation mice

2007 ◽  
Vol 36 (3) ◽  
pp. 1050-1056 ◽  
Author(s):  
A. Entezam ◽  
K. Usdin
Keyword(s):  
Fragile X ◽  
Repeat Expansion ◽  
Fragile X Premutation

scholarly journals Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model

2010 ◽  
pp. n/a-n/a ◽  
Author(s):  
Ali Entezam ◽  
Adihe Rachel Lokanga ◽  
Wei Le ◽  
Gloria Hoffman ◽  
Karen Usdin
Keyword(s):  
Mouse Model ◽  
Fragile X ◽  
Repeat Expansion ◽  
Potassium Bromate ◽  
Oxidizing Agent ◽  
Fragile X Premutation

scholarly journals Secondary structural choice of DNA and RNA associated with CGG/CCG trinucleotide repeat expansion rationalizes the RNA misprocessing in FXTAS

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yogeeshwar Ajjugal ◽  
Narendar Kolimi ◽  
Thenmalarchelvi Rathinavelan
Keyword(s):  
Rna Binding ◽  
Trinucleotide Repeat ◽  
Rna Binding Proteins ◽  
Fragile X ◽  
Repeat Expansion ◽  
Mobility Shift ◽  
Cgg Repeat ◽  
Dna And Rna ◽  
Structural Choice ◽  
Sense Strand

AbstractCGG tandem repeat expansion in the 5′-untranslated region of the fragile X mental retardation-1 (FMR1) gene leads to unusual nucleic acid conformations, hence causing genetic instabilities. We show that the number of G…G (in CGG repeat) or C…C (in CCG repeat) mismatches (other than A…T, T…A, C…G and G…C canonical base pairs) dictates the secondary structural choice of the sense and antisense strands of the FMR1 gene and their corresponding transcripts in fragile X-associated tremor/ataxia syndrome (FXTAS). The circular dichroism (CD) spectra and electrophoretic mobility shift assay (EMSA) reveal that CGG DNA (sense strand of the FMR1 gene) and its transcript favor a quadruplex structure. CD, EMSA and molecular dynamics (MD) simulations also show that more than four C…C mismatches cannot be accommodated in the RNA duplex consisting of the CCG repeat (antisense transcript); instead, it favors an i-motif conformational intermediate. Such a preference for unusual secondary structures provides a convincing justification for the RNA foci formation due to the sequestration of RNA-binding proteins to the bidirectional transcripts and the repeat-associated non-AUG translation that are observed in FXTAS. The results presented here also suggest that small molecule modulators that can destabilize FMR1 CGG DNA and RNA quadruplex structures could be promising candidates for treating FXTAS.

scholarly journals Fragile X Premutation

2014 ◽  
Vol 6 (1) ◽  
pp. 22 ◽  
Author(s):  
Flora Tassone ◽  
Paul J Hagerman ◽  
Randi J Hagerman
Keyword(s):  
Fragile X ◽  
Fragile X Premutation
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