I am writing a report on how Single Nucleotide Polymorphisms occurring in each of these regions:

  1. Transcription factor (TF) binding sites
  2. Epigentic signals
  3. Splicing variants
  4. MicroRNA binding sites
  5. Coding regions

can cause diseases. Related literature suggestion from you or just informations that you know would be grateful


SNPs in all these regions will modify the DNA sequence. Effects will depend on where exactly the SNP is. I'll summarize the conditions in which effects can be maximum

  1. Transcription Factors (TFs) binding sites: SNP in the nucleotide positions that bind to the recognition amino acids in the TF
  2. Epigentic signals: C->X [x: A,G,T] SNPs can disrupt DNA methylation hotspots
  3. Splicing variants: SNPs at splice donor/acceptor sites can cause intron retention
  4. microRNA binding sites: SNP in seed region can abolish miRNA targeting
  5. Coding regions: certain SNPs can create premature stop codons for e.g. CAG (Gln) -> UAG (stop)

there is a lot of work on SNPs. If you search in pubmed for all these categories, you'll get many research articles as well as reviews.

  • $\begingroup$ SNP in the nucleotide positions that bind to the recognition amino acids in the TF.. What consequence does it have? H can it cause disease? $\endgroup$
    – Zizo
    Jun 26 '13 at 9:19
  • $\begingroup$ I meant what is the mechanism by which regulatory region SNPs causes diseases? $\endgroup$
    – Zizo
    Jun 26 '13 at 9:48
  • 1
    $\begingroup$ @Zizo here is an actual example where a SNP in a regulatory region leads to disease: ncbi.nlm.nih.gov/pubmed/16728641 $\endgroup$
    – Bitwise
    Jun 26 '13 at 14:13
  • $\begingroup$ Thanks @Bitwise, if you could kindly also give me examples for Epigenetic singlas, Splicing variants, MicroRNA binding sites and Coding regions or just some of them it would be awesome $\endgroup$
    – Zizo
    Jun 26 '13 at 20:16
  • 1
    $\begingroup$ @Zizo Google it - it is easy to find. $\endgroup$
    – Bitwise
    Jun 26 '13 at 20:53

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