• mutations
  • The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. (hindawi.com)
  • LS and FAP are diseases with autosomal dominant inheritance, caused by germline mutations in the DNA mismatch repair genes (MMR) or in the Adenomatous Polyposis Coli tumor suppressor gene (APC), respectively. (hindawi.com)
  • In FAP syndrome, attenuated forms (AFAP) are caused by low penetrance mutations (missense mutations) in the main APC gene or by biallelic loss of the MYH gene (MAP, MUTYH-associated polyposis with autosomal recessive inheritance), encoding a protein of the Base Excision Repair complex (BER) [ 5 ]. (hindawi.com)
  • These variant syndromes include Muir-Torre syndrome (autosomal dominant) due to MSH2 and MLH1 genes mutations and characterized by the presence of cutaneous manifestations (multiple sebaceous adenomas, epithelioma, and keratoacanthoma) associated with colorectal and endometrial cancers and Turcot syndrome (autosomal dominant) associated with APC, PMS2, and MLH1 genes mutations and characterized by brain cancers (glioblastoma and cerebellar medulloblastoma) are associated with colorectal cancer [ 6 , 7 ]. (hindawi.com)
  • However, its major drawback is that detailed structural knowledge of a protein is often unavailable, and, even when available, it can be very difficult to predict the effects of various mutations. (wikipedia.org)
  • These duplication, fusion and fission events form multiple gene copies and fragments, which are able to accumulate mutations. (wikipedia.org)
  • This indicates there was a selection pressure to maintain protein function, and this selection acted against the non-synonymous mutations. (wikipedia.org)
  • enzyme
  • The enzyme is encoded by the yeast gene KEX2, and usually referred to in the scientific community as Kex2p. (wikipedia.org)
  • SARS and cytoplasmic seryl-tRNA synthetase are a human gene and its encoded enzyme product, respectively. (wikipedia.org)
  • its encoded enzyme, seryl-tRNA synthetase, is involved in protein translation and is related to several bacterial and yeast counterparts. (wikipedia.org)
  • The cytosolic enzyme recognises its cognate tRNA species and binds with a high level of specificity, allowing the accurate interaction between corresponding codons and anticodons on mRNA and tRNA during protein translation. (wikipedia.org)
  • In these cases, the SARS gene (in particular, "SARS2") undergoes a missense mutation, which results in a complete lack of acetylated seryl-tRNA synthetase and a severely reduced amount of non-acetylated enzyme. (wikipedia.org)
  • Thus, excess of the enzyme can result in bacterial death. (wikipedia.org)
  • genetic
  • Likewise, early genetic screens in C. elegans for factors involved in RNA interference pointed to conserved mechanisms for small RNA-mediated gene silencing pathways, placing the worm squarely among the founding fathers of a now extensive field of molecular biology. (frontiersin.org)
  • However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients. (hindawi.com)
  • Moreover, it could also be possible that the simultaneous presence of these genetic variants in several MMR genes that behave as low risk alleles might contribute in a cooperative manner to increase the risk of hereditary cancer. (hindawi.com)
  • Miami Winter Symposia, Volume 16: From Gene to Protein: Information Transfer in Normal and Abnormal Cells presents the expression and processing of genetic information at the levels of both proteins and nucleic acids. (elsevier.com)
  • Organized into 105 chapters, this volume begins with an overview of the discovery of the double helix and the search for the genetic code and the three-dimensional structure of protein. (elsevier.com)
  • Over time, individuals may expand or contract parts of their genes and alleles which adds genetic variation and may sometimes affect phenotype. (wikipedia.org)
  • genome
  • In the presence of these antiterminators, RNA polymerase continues along the genome and transcribes the genes following the termination site until a different class of termination site is encountered. (thefreedictionary.com)
  • Bacteriophages are composed of proteins that encapsulate a DNA or RNA genome , and may have relatively simple or elaborate structures. (wikipedia.org)
  • Human CRYM genome location and CRYM gene details page in the UCSC Genome Browser. (wikipedia.org)
  • species
  • Metaproteomics is used to classify experiments that deal with all the genes and proteins identified from complex communities, where individuals cannot be binned into species or organisms types. (wikipedia.org)
  • A recent paper used shotgun proteomics to characterize the vaginal microbiome, identifying 188 unique bacterial species in 688 women profiled. (wikipedia.org)
  • This alignment can show which amino acids are conserved between species and are important for the function of the protein. (wikipedia.org)
  • yeast
  • Study and manipulation of protein homeostasis and signaling pathways in live cells, optogenetic tools for controlling protein interactions, synthetic biology, cytosolic protein misfolding, yeast genetics/genomics. (ucdenver.edu)
  • genomic
  • Members of the Rudiviridae share structural and genomic characteristics with viruses from the Lipothrixviridae family, which contains enveloped flexible filamentous viruses. (wikipedia.org)
  • When sequencing their genomes, there were many active genomic modifications such as high substitution rates, truncated genes, and the presence of pseudogenes and tandem repeats. (wikipedia.org)
  • nucleoid
  • The mechanism of Ler regulation involves competition with histone-like nucleoid structuring protein (H-NS), a negative regulator of the LEE pathogenicity island. (wikipedia.org)
  • Fis, a nucleoid associated protein essential for EPEC's ability to form attaching and effacing lesions, partly acts through activation of Ler expression. (wikipedia.org)
  • The complex and interconnected roles of topoisomerases and abundant small nucleoid association proteins are explained. (asmscience.org)
  • cytoskeleton
  • Matrix‐assisted filament systems are frequently nucleotide dependent and cytomotive but rarely considered as part of the bacterial cytoskeleton. (embopress.org)
  • phylogenetic
  • Namely, using E. coli Δ7, a null mutant of the rrn (ribosomal RNA) operon, as a host strain, we have shown that various 16S rRNA genes, including those from a different phylogenetic class (i.e., betaproteobacteria), were able to complement growth. (frontiersin.org)
  • homologous
  • In addition, the filamentous particles of rudiviruses and lipothrixviruses are built from structurally similar, homologous major capsid proteins. (wikipedia.org)
  • regulation
  • In a stroke of luck that Brenner (1974) could not have foreseen, his serendipitous choice in model organisms, enabled the later discovery of RNA interference (RNAi) and endogenous small RNA pathways, including microRNAs (miRNAs), ultimately transforming molecular biology and our understanding of gene regulation. (frontiersin.org)
  • organization
  • The structure revealed a previously unknown form of virion organization, in which the alpha-helical major capsid protein of SIRV2 wraps around the DNA, making it inaccessible to solvent. (wikipedia.org)
  • transcription
  • The Ler protein also represses its own transcript on the LEE1 operon through DNA looping which prevents RNA polymerase from completing transcription. (wikipedia.org)
  • The DNA dynamics and topological issues are detailed for stalled replication forks and for torsional and structural changes on DNA in front of and behind a transcription complex and a replisome. (asmscience.org)
  • CRP proteins function as cyclic nucleotide-regulated transcription factors that modulate the expression of genes encoding enzymes involved in carbohydrate metabolism. (wikipedia.org)
  • expression
  • Involved in apoptosis due to interleukin-3 (IL3) deprivation: iron-loaded form increases intracellular iron concentration without promoting apoptosis, while iron-free form decreases intracellular iron levels, inducing expression of the proapoptotic protein BCL2L11/BIM, resulting in apoptosis. (genecards.org)
  • This text then examines the molecular mechanism by which steroid hormones regulate specific gene expression. (elsevier.com)
  • With the combined capabilities of "top-down" and "bottom-up" approaches, proteomics can pursue inquiries ranging from quantitation of gene expression between growth conditions (whether nutritional, spatial, temporal, or chemical) to protein structural information. (wikipedia.org)
  • 2006. Metaproteomics: studying functional gene expression in microbial ecosystems. (wikipedia.org)
  • Metabolism
  • This study linked vaginal microbiome groups to the efficacy of topical antiretroviral drugs to prevent HIV acquisition in women, which was attributed to bacterial metabolism of the drug in vivo. (wikipedia.org)
  • intracellular
  • The existence of intracellular thyroid hormone binding proteins has been postulated from mathematical modelling of pituitary-thyroid homeostasis. (wikipedia.org)
  • Binding properties have been assumed to be similar to those of extracellular binding proteins, however it is not clear, if THBP is the only intracellular thyroid hormone binding protein. (wikipedia.org)
  • Woese
  • demonstrated that L. monocytogenes is a distinct taxon within the Lactobacillus-Bacillus branch of the bacterial phylogeny constructed by Woese. (wikipedia.org)
  • Phosphorylation
  • Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalysed by protein kinases, which ultimately results in a cellular response. (wikipedia.org)
  • functional
  • The lowest identity of functional 16S rRNA gene to that of E. coli was as low as 80%, implying that hundreds of simultaneous nucleotide changes are permitted in the maintenance of ribosome function. (frontiersin.org)
  • 2010) have elucidated the mechanism of gating through structural and functional analysis of the E. coli KefC. (wikipedia.org)
  • molecule
  • b) said second part comprising a portion of the translocation domain of a protein, provided that said hybrid molecule does not include an enzymatically active portion of said protein, and wherein said first part and said second part are not segments of the same naturally occurring protein. (google.com.au)
  • 3. The hybrid molecule of claim 1, wherein said protein of (b) is a naturally-occurring toxin. (google.com.au)
  • infections
  • Phages were discovered to be antibacterial agents and were used in the former Soviet Republic of Georgia (pioneered there by Giorgi Eliava with help from the co-discoverer of bacteriophages, Felix d'Herelle) and the United States during the 1920s and 1930s for treating bacterial infections. (wikipedia.org)
  • Meningitis is often complicated by encephalitis, when it is known as meningoencephalitis, a pathology that is unusual for bacterial infections. (wikipedia.org)
  • amino
  • Mercury in its elemental form does not have the ability to form stable complexes with amino acid residues in proteins so is less dangerous than its ionic form. (wikipedia.org)
  • Computational protein design algorithms seek to identify novel amino acid sequences that are low in energy when folded to the pre-specified target structure. (wikipedia.org)
  • filament
  • H-NS silences LEE genes via rigid filament structures bound to the DNA that Ler disrupts and replaces through unknown mechanisms. (wikipedia.org)
  • EPEC
  • BipA, a ribosomal binding GTPase and prolific regulator of EPEC virulence, transcriptionally regulates Ler from an upstream position where it also regulates other genes. (wikipedia.org)
  • after 6 h, bacterial microcolonies are no longer present, indicating that bacterial aggregation and dispersal occurs in vitro during EPEC adhesion to cultured epithelial cells. (antievolution.org)
  • transcript
  • The transcript encoding the Ler protein is the open reading frame 1 on the LEE1 operon. (wikipedia.org)
  • They found that GrlA activates ler, and that Ler activates grlRA indicating a loop of activation wherein a protein product activates a transcript whose protein product activates the transcript of the original protein. (wikipedia.org)
  • mechanism
  • The viral DNA was found to be entirely in the A-form, which suggests a common mechanism with bacterial spores for protecting DNA in the most adverse environments. (wikipedia.org)
  • It has been proposed that under normal physiological conditions, these proteins may function by essentially the same mechanism. (wikipedia.org)
  • However
  • It has been suggested that the residual activity of the SARS2 gene allows most other tissues to avoid cytopathic symptoms, however, is unable to protect high-energy requirement cells from damage. (wikipedia.org)
  • function
  • NmerA contains two cysteine residues which function in the acquisition of Hg2+ from other proteins or inorganic ligands such as MerT and direct transport to the catalytic active site of MerA. (wikipedia.org)
  • In the future, more detailed knowledge of protein structure and function, and advances in high-throughput screening, may greatly expand the abilities of protein engineering. (wikipedia.org)
  • In rational protein design, a scientist uses detailed knowledge of the structure and function of a protein to make desired changes. (wikipedia.org)
  • While the sequence-conformation space that needs to be searched is large, the most challenging requirement for computational protein design is a fast, yet accurate, energy function that can distinguish optimal sequences from similar suboptimal ones. (wikipedia.org)
  • cell
  • Powerful techniques were developed to reveal a myriad of different structural conformations that change B-DNA as it is transcribed, replicated, and recombined and as sister chromosomes are moved into new daughter cell compartments during cell division. (asmscience.org)
  • The bacterial cell cycle is divided into three stages. (wikipedia.org)
  • These tail fibers appear to be involved in adsorption onto the host cell surface and are formed by one of the minor structural proteins. (wikipedia.org)
  • TubZ functions in segregating low copy-number plasmids during bacterial cell division. (wikipedia.org)
  • These proteins are important for cell survival during exposure to toxic metabolites, possibly because they can release K+, allowing H+ uptake. (wikipedia.org)
  • family
  • Tubulin is characterized by the evolutionarily conserved Tubulin/FtsZ family, GTPase protein domain. (wikipedia.org)
  • Among the functionally well-characterized members of the family are: KefB/KefC K+ efflux proteins of E. coli (i.e. (wikipedia.org)
  • The identification of these proteins as members of the CPA2 family reveals that monovalent cation transport is required for Bacillus spore formation and germination. (wikipedia.org)