Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene

2001 ◽  
Vol 15 (5) ◽  
pp. 281-289 ◽  
Author(s):  
S. Ganesh ◽  
K. Shoda ◽  
K. Amano ◽  
A. Uchiyama ◽  
S. Kumada ◽  
...  
Keyword(s):  
Mutation Screening ◽  
Sequence Variants ◽  
Regulatory Regions ◽  
Lafora's Disease ◽  
Upstream Regulatory Regions

The seven E. coli ribosomal RNA operon upstream regulatory regions differ in structure and transcription factor binding efficiencies

2005 ◽  
Vol 386 (6) ◽  
pp. 523-534 ◽  
Author(s):  
Annette Hillebrand ◽  
Reinhild Wurm ◽  
Artur Menzel ◽  
Rolf Wagner
Keyword(s):  
Protein Complexes ◽  
Rrna Synthesis ◽  
Dna Fragments ◽  
Promoter Regions ◽  
Regulatory Regions ◽  
E Coli ◽  
Upstream Activating Sequence ◽  
Dna Elements ◽  
The Individual ◽  
Upstream Regulatory Regions

AbstractRibosomal RNAs inE. coliare transcribed from seven operons, which are highly conserved in their organization and sequence. However, the upstream regulatory DNA regions differ considerably, suggesting differences in regulation. We have therefore analyzed the conformation of all seven DNA elements located upstream of the majorE. colirRNA P1 promoters. As judged by temperature-dependent gel electrophoresis with isolated DNA fragments comprising the individual P1 promoters and the complete upstream regulatory regions, all seven rRNA upstream sequences are intrinsically curved. The degree of intrinsic curvature was highest for therrnBandrrnDfragments and less pronounced for therrnAandrrnEoperons. Comparison of the experimentally determined differences in curvature with programs for the prediction of DNA conformation revealed a generally high degree of conformity. Moreover, the analysis showed that the center of curvature is located at about the same position in all fragments. The different upstream regions were analyzed for their capacity to bind the transcription factors FIS and H-NS, which are known as antagonists in the regulation of rRNA synthesis. Gel retardation experiments revealed that both proteins interact with the upstream promoter regions of all seven rDNA fragments, with the affinities of the different DNA fragments for FIS and H-NS and the structure of the resulting complexes deviating considerably. FIS binding was non-cooperative, and at comparable protein concentrations the occupancy of the different DNA fragments varied between two and four binding sites. In contrast, H-NS was shown to bind cooperatively and intermediate states of occupancy could not be resolved for each fragment. The different gel electrophoretic mobilities of the individual DNA/protein complexes indicate variable structures and topologies of the upstream activating sequence regulatory complexes. Our results are highly suggestive of differential regulation of the individual rRNA operons.

scholarly journals Phylogenetic Footprinting Analysis in the Upstream Regulatory Regions of the Drosophila Enhancer of split Genes

Genetics ◽  
2007 ◽  
Vol 177 (3) ◽  
pp. 1377-1394 ◽  
Author(s):  
Morgan L. Maeder ◽  
Benjamin J. Polansky ◽  
Bryanne E. Robson ◽  
Deborah A. Eastman
Keyword(s):  
Phylogenetic Footprinting ◽  
Regulatory Regions ◽  
Enhancer Of Split ◽  
Upstream Regulatory Regions

PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt–Jakob Disease

Gene ◽  
2002 ◽  
Vol 288 (1-2) ◽  
pp. 139-146 ◽  
Author(s):  
James E. McCormack ◽  
Herbert N. Baybutt ◽  
Dawn Everington ◽  
Robert G. Will ◽  
James W. Ironside ◽  
...  
Keyword(s):  
Regulatory Regions ◽  
Jakob Disease ◽  
Upstream Regulatory Regions

A study of the association between chronic superficial keratitis and polymorphisms in the upstream regulatory regions of DLA-DRB1, DLA-DQB1 and DLA-DQA1

2013 ◽  
Vol 156 (3-4) ◽  
pp. 205-210 ◽  
Author(s):  
Laura S. Barrientos ◽  
Gustavo Zapata ◽  
Julian A. Crespi ◽  
Diego M. Posik ◽  
Silvina Díaz ◽  
...  
Keyword(s):  
Regulatory Regions ◽  
Upstream Regulatory Regions
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