Promoter Microsatellites as Modulators of Human Gene Expression

  • Sterling M. SawayaEmail author
  • Andrew T. Bagshaw
  • Emmanuel Buschiazzo
  • Neil J. Gemmell
Part of the Advances in Experimental Medicine and Biology book series (AEMB)


Microsatellites in and around genes have been shown to modulate levels of gene expression in multiple organisms, ranging from bacteria to humans. Here we will discuss promoter microsatellites known to modulate gene expression, with a few key examples related to the human brain. Many of the micro satellites we discuss are highly conserved in mammals, indicating that selection may favor their retention as “tuning knobs” of gene expression. We will also discuss the mechanisms by which microsatellites in promoters can alter gene expression as they expand and contract, with particular attention to secondary structures like Z-DNA and H-DNA. We suggest that promoter microsatellites, especially those that are highly conserved, may be an important source of human phenotypic variation.


Transcription Start Site Modulate Gene Expression Gaga Factor Human Gene Expression Tandem Repeat Polymorphism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Landes Bioscience and Springer Science+Business Media 2012

Authors and Affiliations

  • Sterling M. Sawaya
    • 1
    Email author
  • Andrew T. Bagshaw
    • 2
  • Emmanuel Buschiazzo
    • 3
  • Neil J. Gemmell
    • 1
  1. 1.Department of Anatomy and Structural BiologyUniversity of OtagoDunedinNew Zealand
  2. 2.Department of PathologyUniversity of Otago-ChristchurchChristchurchNew Zealand
  3. 3.School of Natural SciencesUniversity of California-MercedMercedUSA

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