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A Mutation Causing Reduced Biological Activity and Stability of
A Mutation Causing Reduced Biological Activity and Stability of

... within a 14 kbp EcoRi fragment and is composed of 4 protein coding exons (Fig. 2). The gene of the affected father (II-2, see Fig. 1) of the proband was isolated, and the sequences of these 4 exons were compared to those of a normal human liver TBG cDNA clone and a genomic TBG clone from a human X c ...
The DnaE polymerase from Deinococcus radiodurans features
The DnaE polymerase from Deinococcus radiodurans features

... interacts with the core α subunit. The β-clamp is a homodimer, and confers to the holoenzyme high processivity by tethering the polymerase to the DNA substrate [20, 21]. In addition, the progression of a replication fork is assisted by the association of DNA Pol III with DNA helicase and primase [22 ...
Bacterial Systems for Testing Spontaneous and
Bacterial Systems for Testing Spontaneous and

... anticodon site. The changed tRNAs are able to recognize a nonsense codon that occur elsewhere in protein-coding genes and incorporate the amino acids specific for them into the polypeptide chain during protein synthesis. The bacterial test system of mutation detection described here is based on reve ...
DNA Fingerprinting by Restriction Enzyme Patterns
DNA Fingerprinting by Restriction Enzyme Patterns

... base pairs. A restriction enzyme having a 6-base pair recognition site, such as Eco RI, would be expected to cut human DNA into approximately 750,000 different fragments. ...
From Gene to Protein—A Historical Perspective - AP Central
From Gene to Protein—A Historical Perspective - AP Central

... In most cases, this information is passed from parent to offspring via deoxyribonucleic acid, or DNA. This double-stranded molecule provides a simple and elegant solution for the transmission of heritable information: By using each strand as a template, existing information can be preserved and dupl ...
Infertility and aneuploidy in mice lacking a type IA
Infertility and aneuploidy in mice lacking a type IA

... rabbit antibodies against Rad51 were purchased from Novus Biologicals (Littleton, CO). To obtain polyclonal antibodies against mouse Top3␤, a DNA fragment corresponding to base pairs 1858–2592 of the mouse TOP3␤ coding sequence was amplified by the use of a pair of primers 5⬘-GGGAATTCCATATGCCCCTCTCG ...
Site- and strand-specific mismatch repair of
Site- and strand-specific mismatch repair of

... Defective mismatch repair has recently been implicated as the major contributor towards the mutator phenotype observed in tumour cell lines derived from patients diagnosed with hereditary non-polyposis colon cancer (HNPCC). Cell lines from other cancer-prone syndromes, such as xeroderma pigmentosum, ...
RecA-mediated strand exchange traverses
RecA-mediated strand exchange traverses

... maintain the same reading frame during translation and, in the case of a single substitution, result in a change of just one codon while the rest of the codons remain unchanged. Except for rare cases of accidental creation of stop codons, the base substitutions are usually much less harmful than eve ...
The promiscuous primase
The promiscuous primase

... that also possesses a 5 0 -deoxyribose 5 0 -phosphate (dRP) lyase activity. The principal role for Pol b is in base excision repair (BER). TdT has a 22% amino acid identity with Pol b. It is a template-independent DNA and RNA polymerase that has a key role in the generation of antibody diversity by ...
9.18 Metal Complexes as Drugs and Chemotherapeutic
9.18 Metal Complexes as Drugs and Chemotherapeutic

... prospective anticancer drugs, for example, in vitro data obtained by proliferation or colony formation assays give useful initial information on the cytotoxicity of the agents. The preponderance of human tumor tissues now available with well-defined genetic makeup and detailed information of up- or ...
CLINICAL CASE SEMINAR Three New Novel Point Mutations
CLINICAL CASE SEMINAR Three New Novel Point Mutations

... differentiation during early embryonic stages is characterized by complex interaction of various genetic and nongenetic factors (22). In cascade of gonosomal and autosomal genes, the SRY gene located on the short arm of the Y chromosome is one of the first activated genes. There is evidence that SRY ...
Mitochondrial DNA and aging
Mitochondrial DNA and aging

... because they affect cellular energetics as a whole. Several lines of evidence indirectly implicate mtDNA in longevity. The Framingham Longevity Study of Coronary Heart Disease has indicated that longevity is more strongly associated with age of maternal death than that of paternal death, suggesting ...
Detection of DNA molecules by SERS spectroscopy with silvered
Detection of DNA molecules by SERS spectroscopy with silvered

... Raman bands of the herring sperm DNA molecules [10]. SERS spectra were collected in 10 random points of the silvered PS. Remarkably, the silvered PS demonstrates SERS activity for all lasers proving the suggestion proposed in the previous section. However, the SERS spectra of DNA recorded in differe ...
Cloning methods
Cloning methods

... Blunt end cloning is one of the simplest strategies for the insertion of a gene into an expression vector. The plasmid is digested with a restriction enzyme that leaves blunt ends, and then purified by preparative gel electrophoresis, in order to remove uncut plasmid, because restriction digestion u ...
Comprehensive Analysis of Hyrdrogen Bonds in Regulatory Protein
Comprehensive Analysis of Hyrdrogen Bonds in Regulatory Protein

... of these bonds involve the protein side-chains and the DNA atoms at the base edges and in the backbone, but interactions that involve the protein backbone are also found. The contacts that involve the DNA backbone are believed to stabilize the complex and to orient the protein against the DNA in a f ...
A novel assay for examining the molecular
A novel assay for examining the molecular

... in 33) and can stimulate the activity of eukaryotic DNA polymerases and several known helicases (13,33–37). All three subunits of the RPA complex are required for RPA function (33). The 70 kDa subunit has high affinity ssDNA-binding activity and has been shown to specifically interact with several r ...
Chemistry and biology of DNA-binding small
Chemistry and biology of DNA-binding small

... to DNA bases. This alteration results in the DNA being fragmented by repair enzymes in their attempts to replace the alkylated bases. A second mechanism by which alkylating agents cause DNA damage is the formation of cross-bridges, bonds between atoms in the DNA. In this process, two bases are linke ...
DNA Review Sheet Plus 10 points on the exam tomorrow
DNA Review Sheet Plus 10 points on the exam tomorrow

... 13. Where in the cell is DNA found (what organelle)? nucleus 14. Where in the cell does transcription take place (what organelle)? It starts in the nucleus then goes to ribosomes 15. What nitrogenous base does RNA contain that DNA does not have? Uracil Use your Translation notes to answer the follow ...
Lehninger Principles of Biochemistry
Lehninger Principles of Biochemistry

... ucleotides have a variety of roles in cellular metabolism. They are the energy currency in metabolic transactions, the essential chemical links in the response of cells to hormones and other extracellular stimuli, and the structural components of an array of enzyme cofactors and metabolic intermedia ...
Characterization of a novel DNA polymerase activity assay enabling
Characterization of a novel DNA polymerase activity assay enabling

... The measurement of DPE activity could represent a useful tool with far-reaching applications such as, but not limited to, screening candidate-polymerase inhibitors in vitro, or detecting the presence any microbe (harboring active DNA polymerases) within a diverse range of sample types. If intended f ...
Electron transfer from aromatic amino acids to guanine and adenine
Electron transfer from aromatic amino acids to guanine and adenine

... point is the stacked and T-shaped structures of G–X and A–X recently reported by Wetmore and co-workers.51 The potential energy surface of these complexes was systematically studied at the MP2/6-31* level of theory; the stabilization energies were calculated using the CCSD(T)/CBS method. On the basi ...
Two DNA sites for MelR in the same orientation are sufficient for
Two DNA sites for MelR in the same orientation are sufficient for

... Most members of the AraC family of transcription regulators function as homodimers of two subunits with the N-terminal domain of each subunit involved in ligand binding and dimerization, and the C-terminal domain responsible for DNA binding (Gallegos et al., 1997). C-terminal domains of AraC family ...
molecular biology
molecular biology

... of different width appear between ribose-phosphate chains on the surface of the molecule. In these grooves, the bases are exposed to solvent and to other molecules. By this way, some molecules may interact with specific bases without disrupting the double helix. ...
as Adobe PDF - Edinburgh Research Explorer
as Adobe PDF - Edinburgh Research Explorer

... region of Gal4 has been found to stimulate polyomavirus or bovine papillomavirus DNA replication (He et al., 1993; Li and Botchan, 1993). On the basis of these observations, a model has been proposed where p53 binds to cellular origins of replication and there may interact with key replication prote ...
Integrating multi-scale data on homologous recombination into a
Integrating multi-scale data on homologous recombination into a

... The early stage of recognition during which strand exchange progresses rapidly encompasses much of the mystery of homologous recombination: what structural features allow the search to form the correct homologous pairing in much less than an hour? In principle, molecular modeling should be an approp ...
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DNA repair protein XRCC4

DNA repair protein XRCC4 also known as X-ray repair cross-complementing protein 4 or XRCC4 is a protein that in humans is encoded by the XRCC4 gene. In addition to humans, the XRCC4 protein is also expressed in many other metazoans, fungi and in plants. The X-ray repair cross-complementing protein 4 is one of several core proteins involved in the non-homologous end joining (NHEJ) pathway to repair DNA double strand breaks (DSBs).NHEJ requires two main components to achieve successful completion. The first component is the cooperative binding and phosphorylation of artemis by the catalytic subunit of the DNA-dependent protein kinase (DNA-PKcs). Artemis cleaves the ends of damaged DNA to prepare it for ligation. The second component involves the bridging of DNA to DNA Ligase IV (LigIV), by XRCC4, with the aid of Cernunos-XLF. DNA-PKcs and XRCC4 are anchored to Ku70 / Ku80 heterodimer, which are bound to the DNA ends.Since XRCC4 is the key protein that enables interaction of LigIV to damaged DNA and therefore ligation of the ends, mutations in the XRCC4 gene were found to cause embryonic lethality in mice and developmental inhibition and immunodeficiency in humans. Furthermore, certain mutations in the XRCC4 gene are associated with an increased risk of cancer.
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