Functional study of potential regulatory SNPs

Arina Degtyareva1, Elena Leberfarb2, Ilya Brusentsov3, Tatiana Kuzina4, Tatiana Merkulova51ICG SB RAS, degtyareva_rso@mail.ru2ICG SB RAS, lieberfarb@bionet.nsc.ru3ICG SB RAS, brusentsovi@gmail.com4NSU, t.kuzina@g.nsu.ru5ICG SB RAS, merkulova@bionet.nsc.ru In a previous study using a new bioinformatic approach based on Chip-Seq data with antibodies to various transcription factors , histone markers , and ChiA-PET and RNA-seq data, 32 potentially regulatory single -nucleotide polymorphisms (SNPs) were associated with colorectal cancer . In this study, a functional analysis of 6 of these polymorphisms was performed using EMSA and the luciferase reporter system. These nucleotide substitutions have been shown to alter the binding of oligonucleotides to nuclear extract proteins and alter the expression of the reporter gene.

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Functional study of potential regulatory SNPs (rs590352, rs11542583, rs3829202, rs78317230, rs2072580, rs4796672)

Poster (download) Arina Degtyareva1, Elena Leberfarb2, Ilya Brusentsov3, Tatiana Kuzina4, Tatiana Merkulova51ICG SB RAS, degtyareva_rso@mail.ru2ICG SB RAS, lieberfarb@bionet.nsc.ru3ICG SB RAS, brusentsovi@gmail.com4NSU, t.kuzina@g.nsu.ru5ICG SB RAS, merkulova@bionet.nsc.ru In a previous study using a new bioinformatic approach based on Chip-Seq data with antibodies against various transcription factors and histone modifications, ChiA-PET, RNA-seq and ICGC data, 32 potentially regulatory single -nucleotide polymorphisms (rSNPs) were associated with colorectal cancer. In this study, a functional analysis of 6 of these polymorphisms was performed using EMSA and the luciferase reporter system. These nucleotide substitutions have been shown to alter the binding of nuclear extract proteins and influence the expression of the reporter gene.  

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