TY - CHAP
T1 - Structural characteristics of trinucleotide repeats in transcripts
AU - Krzyzosiak, Wlodzimierz J.
AU - Sobczak, Krzysztof
AU - Napierala, Marek
N1 - Funding Information:
This work was supported by the State Committee for Scientific Research (Grant Nos. 2P05A-08826 and PBZ-KBN-040/P04/2001) and the Foundation for Polish Science (Grant No. 8/2000).
PY - 2006
Y1 - 2006
N2 - This chapter discusses structural features of triplet repeats in transcripts relevant to the more prominent role of RNA in the pathogenesis of triplet repeat expansion diseases (TRED). The number of different transcripts harboring triplet repeats but also their expression levels in different cell types and tissues influence the cellular balance of the repeat containing transcripts and repeat binding proteins, which might be important for the mechanism of RNA-mediated pathogenesis. Bearing that in mind, the available gene expression data have been analyzed, by using tools of bioinformatics, to characterize the abundance of a large group of the repeat containing transcripts in different human tissues: brain, prostate, liver, kidney, pancreas, and lung. The CNG repeat containing transcripts were shown to belong to moderate and low abundance classes. The CNG repeat regions in transcripts may form hairpin structures of different molecular architecture. Moreover, hairpins composed of a lower number of repeats but well-stabilized by the flanking sequences may exert effects similar to those composed of a larger number of repeats, but lacking any additional stabilization.
AB - This chapter discusses structural features of triplet repeats in transcripts relevant to the more prominent role of RNA in the pathogenesis of triplet repeat expansion diseases (TRED). The number of different transcripts harboring triplet repeats but also their expression levels in different cell types and tissues influence the cellular balance of the repeat containing transcripts and repeat binding proteins, which might be important for the mechanism of RNA-mediated pathogenesis. Bearing that in mind, the available gene expression data have been analyzed, by using tools of bioinformatics, to characterize the abundance of a large group of the repeat containing transcripts in different human tissues: brain, prostate, liver, kidney, pancreas, and lung. The CNG repeat containing transcripts were shown to belong to moderate and low abundance classes. The CNG repeat regions in transcripts may form hairpin structures of different molecular architecture. Moreover, hairpins composed of a lower number of repeats but well-stabilized by the flanking sequences may exert effects similar to those composed of a larger number of repeats, but lacking any additional stabilization.
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U2 - 10.1016/B978-012369462-1/50046-6
DO - 10.1016/B978-012369462-1/50046-6
M3 - Chapter
AN - SCOPUS:84882520051
SN - 9780123694621
SP - 705
EP - 713
BT - Genetic Instabilities and Neurological Diseases, Second Edition
PB - Elsevier Inc.
ER -