Ancient Pbx-Hox signatures define hundreds of vertebrate developmental enhancers [PDF]
, 2011 Background: Gene regulation through cis-regulatory elements plays a crucial role in development and disease. A major aim of the post-genomic era is to be able to read the function of cis-regulatory elements through scrutiny of their DNA sequence ...
Bronner, Marianne E. +4 more
core +5 more sources
MotifMark: Finding Regulatory Motifs in DNA Sequences [PDF]
2017 39th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC), 2017 AbstractThe interaction between proteins and DNA is a key driving force in a significant number of biological processes such as transcriptional regulation, repair, recombination, splicing, and DNA modification. The identification of DNA-binding sites and the specificity of target proteins in binding to these regions are two important steps in ...
Hassanzadeh, Hamid Reza +3 more
openaire +4 more sources
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [PDF]
, 2009 Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as “splicing mutations,” but for almost 40% of these, their role in ...
BAFFICO AM +8 more
core +1 more source
Short DNA sequence patterns accurately identify broadly active human enhancers
BMC Genomics, 2017 Background Enhancers are DNA regulatory elements that influence gene expression. There is substantial diversity in enhancers’ activity patterns: some enhancers drive expression in a single cellular context, while others are active across many.
Laura L. Colbran +2 more
doaj +1 more source
Highly Mutable Linker Regions Regulate HIV-1 Rev Function and Stability. [PDF]
, 2019 HIV-1 Rev is an essential viral regulatory protein that facilitates the nuclear export of intron-containing viral mRNAs. It is organized into structured, functionally well-characterized motifs joined by less understood linker regions.
Fernandes, Jason D +4 more
core +3 more sources
Dynamics of transcription factor binding site evolution [PDF]
, 2015 Evolution of gene regulation is crucial for our understanding of the phenotypic differences between species, populations and individuals. Sequence-specific binding of transcription factors to the regulatory regions on the DNA is a key regulatory ...
Barton, Nicholas H. +3 more
core +6 more sources
Identification of cis-regulatory sequence variations in individual genome sequences [PDF]
Genome Medicine, 2011 Functional contributions of cis-regulatory sequence variations to human genetic disease are numerous. For instance, disrupting variations in a HNF4A transcription factor binding site upstream of the Factor IX gene contributes causally to hemophilia B Leyden.
Worsley-Hunt, Rebecca +2 more
openaire +2 more sources
Correlating overrepresented upstream motifs to gene expression: a computational approach to regulatory element discovery in eukaryotes [PDF]
, 2002 Gene regulation in eukaryotes is mainly effected through transcription factors binding to rather short recognition motifs generally located upstream of the coding region.
Caselle, M., Di Cunto, F., Provero, P.
core +3 more sources
Sequence analysis of the cis-regulatory regions of the bithorax complex of Drosophila [PDF]
, 1995 The bithorax complex (BX-C) of Drosophila, one of two complexes that act as master regulators of the body plan of the fly, has now been entirely sequenced and comprises approximate to 315,000 bp, only 1.4% of which codes for protein.
Celniker, Susan E. +3 more
core +1 more source
DNA watermarks in non-coding regulatory sequences [PDF]
BMC Research Notes, 2009 DNA watermarks can be applied to identify the unauthorized use of genetically modified organisms. It has been shown that coding regions can be used to encrypt information into living organisms by using the DNA-Crypt algorithm. Yet, if the sequence of interest presents a non-coding DNA sequence, either the function of a resulting functional RNA molecule
Heider, Dominik +2 more
openaire +4 more sources