Regulatory SNPs and their widespread effects on the transcriptome

Vasily M. Merkulov, Elena Yu Leberfarb, Tatiana I. Merkulova

Research output: Contribution to journalReview articlepeer-review

4 Citations (Scopus)

Abstract

Currently, it is generally accepted that the cis-acting effects of noncoding variants on gene expression are a major factor for phenotypic variation in complex traits and disease susceptibility. Meanwhile, the protein products of many target genes for the identified cis-regulatory variants (rSNPs) are regulatory molecules themselves (transcription factors, effectors, components of signal transduction pathways, etc.), which implies dramatic downstream effects of these variations on complex gene networks. Here, we brief the results of recent most comprehensive studies on the role of rSNPs in transcriptional regulation across the genome.

Original languageEnglish
Pages (from-to)1069-1075
Number of pages7
JournalJournal of Biosciences
Volume43
Issue number5
DOIs
Publication statusPublished - 1 Dec 2018

Keywords

  • Downstream effects
  • gene expression
  • regulatory SNPs (rSNPs)
  • transcriptome
  • ACTIVATION
  • MYOCARDIAL-INFARCTION
  • ZNF804A
  • SCHIZOPHRENIA
  • BIPOLAR DISORDER
  • COLORECTAL-CANCER
  • PROSTATE-CANCER
  • GENE-EXPRESSION
  • RISK VARIANT
  • GENOME-WIDE ASSOCIATION

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