Discriminating RNA variants with single-molecule allele-specific FISH
PBN-AR
Instytucja
Instytut Chemii Bioorganicznej Polskiej Akademii Nauk
Informacje podstawowe
Główny język publikacji
en
Czasopismo
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH (45pkt w roku publikacji)
ISSN
1383-5742
EISSN
Wydawca
ELSEVIER SCIENCE BV
DOI
URL
Rok publikacji
2017
Numer zeszytu
Strony od-do
230-241
Numer tomu
773
Identyfikator DOI
Liczba arkuszy
Autorzy
Słowa kluczowe
en
Allele-specific
Point mutation; Splicing
Fused gene
Fluorescence in situ hybridization
Single molecule detection
Streszczenia
Język
en
Treść
DNA mutations of various types often affect the cellular localization and function of gene products. The role of mutant transcripts in the pathogenesis of human disease is increasingly recognized. Among the pathogenic RNA variants are transcripts with single nucleotide substitutions, small insertions or deletions, aberrantly or alternatively spliced transcripts and RNAs derived from fused genes. To discriminate among transcripts, particularly those of low abundance, showing small or large sequence differences, a highly sensitive and specific RNA imaging method is required. The method that fulfills these criteria is single-molecule fluorescence in situ hybridization (smFISH) combined with probes discriminating among RNA variants. With this method, RNA transcripts produced from individual alleles can be imaged, and differences in their transcription, processing, cellular localization and decay can be revealed. In addition to its applications for studying physiological processes involving RNA variants, smFISH offers several advantages for disease related mutation research. Further development of allele-specific microscopic methods may broaden group of RNA variants analyzed, including RNAs with expanded repeat tract, different variants of 3 ' UTR, RNAs differing in length of polyA tract or transcripts produced from alternative start codons. Moreover, first attempts for allele-specific RNA live imaging were made adding time-lapse analysis. In this review, we discuss important aspects of the variant-specific smFISH methodology and present examples of its applications in deciphering RNA-mediated pathogenic mechanisms in a variety of human diseases, including cancer, neurological, immunological and cardiovascular diseases.
Inne
System-identifier
PX-5a1403d6d5de05f7f497f9d7
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