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Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes.

Genome research - 1 May 2021

Chen Meng, Wei Ran, Wei Gang, Xu Mingqing, Su Zhixi, Zhao Chen, Ni Ting

Abstract excerpt

Single nucleotide variants (SNVs) within polyadenylation signals (PASs), a specific six-nucleotide sequence required for mRNA maturation, can impair RNA-level gene expression and cause human diseases. However, there is a lack of genome-wide investigation and systematic confirmation tools for identifying PAS variants. Here, we present a computational strategy to integrate the most reliable resources for...

Topics

Base Sequence
Disease
Gene Expression Regulation
Genome-Wide Association Study
Genomics
Humans
Polyadenylation
Polymorphism, Single Nucleotide
RNA
RNA, Messenger

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PMID: 33875481
DOI: 10.1101/gr.270256.120
PMCID: PMC8092010

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