DNA methylation and Z‐DNA formation as mediators of quantitative differences in the expression of alleles

  title={DNA methylation and Z‐DNA formation as mediators of quantitative differences in the expression of alleles},
  author={Stefan Rothenburg and Friedrich Koch-Nolte and Friedrich Haag},
  journal={Immunological Reviews},
Summary: With draft copies of several model genomes available in the near future, attention is turning towards the genetic mechanisms that determine differences between individuals. While mutations in protein coding regions affect the structure of gene products, polymorphisms outside such regions may cause quantitative differences in gene expression. Here we summarize observations indicating that such differences may be mediated by allele‐specific alterations in the modification or structure of… 
Z-DNA, an active element in the genome.
Accumulating experimental and clinical evidence support the idea that this non-B DNA conformation is involved in several important biological processes and may provide a target for the prevention and treatment of some human diseases.
Microsatellite Tandem Repeats Are Abundant in Human Promoters and Are Associated with Regulatory Elements
The results suggest that many promoter microsatellites have the potential to affect human phenotypes by generating mutations in regulatory elements, which may ultimately result in disease.
Transcription factor ATF-3 regulates allele variation phenotypes of the human SLC11A1 gene
The findings suggest that ATF-3 and c-Jun may influence heritable variation in SLC11A1-dependent innate resistance to infection and inflammation both within and between populations.
Comparative analyses of distributions and functions of Z-DNA in Arabidopsis and rice.
Promoter microsatellites as modulators of human gene expression.
It is suggested that promoter microsatellites, especially those that are highly conserved, may be an important source of human phenotypic variation.
The effect of a promoter polymorphism on the transcription of nitric oxide synthase 1 and its relevance to Parkinson's disease
A genotyping study was done comparing polymorphism length among 170 PD patients and 150 age‐matched controls to suggest that if smaller polymorphism size contributes to the higher NOS1 levels in PD patients, an as yet unknown transcriptional mechanism is required.
Complex regulation of the human gene for the Z-DNA binding protein DLM-1.
The cellular function of DLM-1 appears to call for a high degree of adaptation by this complex regulation, and over 2000 different mRNAs may be produced due to alternative splicing and usage of different 5' and 3' ends.
The functional response of upstream DNA to dynamic supercoiling in vivo
It is shown that transcription-generated supercoils streaming dynamically from active promoters have considerable consequences for DNA structure and function in cells, and mechanical stresses, constrained by architectural features of DNA and chromatin, may broadly contribute to gene regulation.


Polymorphism at the mouse Thb locus
The Thb locus has two alleles, Thbh and Thbl, which control the level of expression of ThB molecules on thymocytes and on splenic B cells, and is therefore different from the usual polymorphisms of other Ly loci which give an all or none serological reaction.
Enhanced gene expression by the poly(dT-dG).poly(dC-dA) sequence.
The TG-element appeared to have characteristics similar to those of viral enhancers, but its enhancer-like activity was much weaker than that of the simian virus 40 enhancer, and, unlike many viral enhancies, it was equally active in monkey and in human cells.
Regulation of IL‐4 production in mast cells: a paradigm for cell‐type‐specific gene expression
It is shown that there are distinct yet parallel events that control developmentally determined chromatin modifications, allowing accessibility of the locus, and provide the potential for transcription in differentiated cells.
Supercoiling of DNA
Thiele main promoter region of the rat T - cell shows a Thy - 1 - negative subset . HG . Polymorphic microsatellite within the differentiation antigen RT 6
  • Blood
  • 1992
template during transcription. 35. 46. Proc Natl Acad Sci USA Bestor TH. The DNA methyltransferases of Rothenburg S, Koch-Nolte F
  • Thiele HG, mammals. Haag F. Expression of the T-cell
  • 1986
polymorphic dinucleotide repeat in the Proc Natl Acad Sci USA 37. rat nucleolin gene forms Z-DNA
  • 1991
Rich defense : implications for the evolution of
  • Haag Natl Acad Sci USA