Ancient Pbx-Hox signatures define hundreds of vertebrate developmental enhancers [PDF]
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
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]
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
Phylum-Level Conservation of Regulatory Information in Nematodes despite Extensive Non-coding Sequence Divergence. [PDF]
Gene regulatory information guides development and shapes the course of evolution. To test conservation of gene regulation within the phylum Nematoda, we compared the functions of putative cis-regulatory sequences of four sets of orthologs (unc-47, unc ...
Kacy L Gordon+2 more
doaj +1 more source
MotifMark: Finding Regulatory Motifs in DNA Sequences [PDF]
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 +5 more sources
Assessing constraints on the path of regulatory sequence evolution. [PDF]
Structural and functional constraints are known to play a major role in restricting the path of evolution of protein activities. However, constraints acting on evolving transcriptional regulatory sequences, e.g. enhancers, are largely unknown. Recently, we elucidated how a novel expression pattern of the Neprilysin-1
Glassford WJ, Rebeiz M.
europepmc +5 more sources
Short DNA sequence patterns accurately identify broadly active human enhancers
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
DNA watermarks in non-coding regulatory sequences [PDF]
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
Martin Pyka+3 more
openaire +5 more sources
Identifying cis-regulatory sequences by word profile similarity.
BackgroundRecognizing regulatory sequences in genomes is a continuing challenge, despite a wealth of available genomic data and a growing number of experimentally validated examples.Methodology/principal findingsWe discuss here a simple approach to ...
Garmay Leung, Michael B Eisen
doaj +1 more source
Correlating overrepresented upstream motifs to gene expression: a computational approach to regulatory element discovery in eukaryotes [PDF]
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
Complete sequence of a eukaryotic regulatory gene. [PDF]
Dihydroorotase, the third enzymatic activity of the pyrimidine pathway, is encoded in Saccharomyces cerevisiae by a single gene URA4, which is induced at the transcriptional level by accumulation of ureidosuccinic acid. A regulatory gene PPR2 (pyrimidine pathway regulatory 2) acting specifically on this step, has been characterized, cloned and ...
B. Kammerer+5 more
openaire +3 more sources