Chance and Necessity in Arthur Peacocke`s Scientific Work
... considering cell killing induced following radiation exposure. This is the mechanistic basis for the use of radiation for cancer treatment, but it is also the basis for the harmful side-effects of radiation exposure. It has also been shown in cells that double-strand breaks can be repaired in an err ...
... considering cell killing induced following radiation exposure. This is the mechanistic basis for the use of radiation for cancer treatment, but it is also the basis for the harmful side-effects of radiation exposure. It has also been shown in cells that double-strand breaks can be repaired in an err ...
Maintenance of genomic integrity by p53: complementary
... preventing ®xation of DNA damage as mutations. This function of p53 led to the now famous coining of p53 as the `guardian of the genome' by Lane (1992). Although the main features of p53's role in maintaining the integrity of the genome seem to be outlined, there is still a lot to be learned as to h ...
... preventing ®xation of DNA damage as mutations. This function of p53 led to the now famous coining of p53 as the `guardian of the genome' by Lane (1992). Although the main features of p53's role in maintaining the integrity of the genome seem to be outlined, there is still a lot to be learned as to h ...
Premature stop codons involved in muscular dystrophies
... upstream and downstream sequences, which determine the overall efficiency of translational termination in yeast.12,13 Less is currently known on the influence of the sequence context on basal and antibiotic-induced readthrough levels in mammalian cells. Results from different laboratories have demon ...
... upstream and downstream sequences, which determine the overall efficiency of translational termination in yeast.12,13 Less is currently known on the influence of the sequence context on basal and antibiotic-induced readthrough levels in mammalian cells. Results from different laboratories have demon ...
MTHFR C677T and A1298C: Explained In Plain
... Which MTHFR Mutation Is A Problem? Heterozygous MTHFR mutations seem to have only minor influences on enzyme activity and health. Heterozygous A1298C is thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 35% (3, 11). MTHFR mutations that have ...
... Which MTHFR Mutation Is A Problem? Heterozygous MTHFR mutations seem to have only minor influences on enzyme activity and health. Heterozygous A1298C is thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 35% (3, 11). MTHFR mutations that have ...
Solid Tumour Section Kidney: Nephroblastoma (Wilms tumor) Atlas of Genetics and Cytogenetics
... Note: Other chromosomal regions involved are: - 11p15 : BWS, an overgrowth syndrome, is caused by alterations of 11p15, a region subject to genomic imprinting: loss of of imprinting of IGF2 is the most common defect found; WT1 is rarely implicated solely in sporadic Wilms tumours, but maternal allel ...
... Note: Other chromosomal regions involved are: - 11p15 : BWS, an overgrowth syndrome, is caused by alterations of 11p15, a region subject to genomic imprinting: loss of of imprinting of IGF2 is the most common defect found; WT1 is rarely implicated solely in sporadic Wilms tumours, but maternal allel ...
INTERACTION OF SELECTION, MUTATION, AND DRIFT
... In the previous chapters, we treated the response to selection as an effectively deterministic process, making the assumption that the stochastic force of random genetic drift is negligible relative to the power of selection, and also ignoring the origin of new variation by mutation. Such an approac ...
... In the previous chapters, we treated the response to selection as an effectively deterministic process, making the assumption that the stochastic force of random genetic drift is negligible relative to the power of selection, and also ignoring the origin of new variation by mutation. Such an approac ...
An Introduction to Genetic Analysis Chapter 18 Chromosome
... arise naturally as spontaneous chromosomal mutations and, as such, they must be considered aberrations because they differ from the previous norm. However, many species of plants and animals have clearly arisen through polyploidy, so evidently evolution can take advantage of polyploidy when it arise ...
... arise naturally as spontaneous chromosomal mutations and, as such, they must be considered aberrations because they differ from the previous norm. However, many species of plants and animals have clearly arisen through polyploidy, so evidently evolution can take advantage of polyploidy when it arise ...
the lkb1 tumor suppressor - E
... Cancer is a Disease of the Genome Cancer is one of the leading causes of morbidity and mortality in developed societies (Peto, 2001). Epidemiological studies have shown that smoking, diet, radiation and certain virus infections increase cancer risk. Many of these risk factors contain chemical carcin ...
... Cancer is a Disease of the Genome Cancer is one of the leading causes of morbidity and mortality in developed societies (Peto, 2001). Epidemiological studies have shown that smoking, diet, radiation and certain virus infections increase cancer risk. Many of these risk factors contain chemical carcin ...
8 VARIATION IN CHROMOSOME STRUCTURE AND NUMBER
... With an understanding that chromosomes typically come in a variety of shapes and sizes, let’s consider how the structures of normal chromosomes can be modified. In some cases, the total amount of genetic material within a single chromosome can be increased or decreased significantly. Alternatively, ...
... With an understanding that chromosomes typically come in a variety of shapes and sizes, let’s consider how the structures of normal chromosomes can be modified. In some cases, the total amount of genetic material within a single chromosome can be increased or decreased significantly. Alternatively, ...
Press release
... protocol and secondly also on the starting weight or volume. It also depends to a large extent on the sample material itself (leaf and seed material, animal tissue, hair, etc.). sbeadex - high-quality DNA preparations The oKtopure utilises the sbeadexTM extraction chemistry developed by LGC, which i ...
... protocol and secondly also on the starting weight or volume. It also depends to a large extent on the sample material itself (leaf and seed material, animal tissue, hair, etc.). sbeadex - high-quality DNA preparations The oKtopure utilises the sbeadexTM extraction chemistry developed by LGC, which i ...
Defining characteristics of Tn5 Transposase non
... are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permission ...
... are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permission ...
Chromosome 4q31 locus in COPD is also associated with lung cancer
... to better examine SNP associations with lung cancer and/or COPD, three study populations should be employed: smokers with normal lung function (resistant smokers with no evidence of COPD); smokers with COPD; and smokers with lung cancer in whom spirometry has been performed to identify coexisting CO ...
... to better examine SNP associations with lung cancer and/or COPD, three study populations should be employed: smokers with normal lung function (resistant smokers with no evidence of COPD); smokers with COPD; and smokers with lung cancer in whom spirometry has been performed to identify coexisting CO ...
Cytogenetics with special reference to domestic animals
... portion of human chromosome 1 (orange) are present in the same order in a portion of mouse chromosome 4. Regions of human chromosomes that are composed primarily of short, repeated sequences are shown in black. Mouse centromeres (indicated in black in B) are located at the ends of chromosomes; no kn ...
... portion of human chromosome 1 (orange) are present in the same order in a portion of mouse chromosome 4. Regions of human chromosomes that are composed primarily of short, repeated sequences are shown in black. Mouse centromeres (indicated in black in B) are located at the ends of chromosomes; no kn ...
Graph-based Methods for the Design of DNA - TUBdok
... DNA computing is a rapidly evolving field utilizing DNA molecules instead of silicon-based electronic units to perform calculations. The reliability of such computations strongly depends on the DNA sequences that represent units of information. Recently, the thermodynamic constraints, based on the f ...
... DNA computing is a rapidly evolving field utilizing DNA molecules instead of silicon-based electronic units to perform calculations. The reliability of such computations strongly depends on the DNA sequences that represent units of information. Recently, the thermodynamic constraints, based on the f ...
Fanconi anemia and RAD50 deficiency: genetic and functional
... necessary to gain insights into molecular mechanisms which maintain genomic integrity. The focus of this thesis is directed at the molecular, cellular and clinical aspects of two groups of inherited diseases that serve as models for the elucidation of causes and consequences of genetic instability. ...
... necessary to gain insights into molecular mechanisms which maintain genomic integrity. The focus of this thesis is directed at the molecular, cellular and clinical aspects of two groups of inherited diseases that serve as models for the elucidation of causes and consequences of genetic instability. ...
Compound heterozygosity of novel missense
... carboxylase active site to facilitate the reaction are largely unknown, due in part to the lack of a crystal structure or homology with other proteins that might indicate functional residues. Structurefunction relationships for VKORC1 are even less well defined, because the gene for this enzyme has ...
... carboxylase active site to facilitate the reaction are largely unknown, due in part to the lack of a crystal structure or homology with other proteins that might indicate functional residues. Structurefunction relationships for VKORC1 are even less well defined, because the gene for this enzyme has ...
Multiplex in-vitro Detection using SERS
... beneficial in obtaining further enhancement in the form of surface enhanced resonance Raman scattering (SERRS). This occurs when the analyte contains a chromophore close in energy to the exciting radiation. However, a dye label can also be used to achieve this enhancement if the chromophore is not p ...
... beneficial in obtaining further enhancement in the form of surface enhanced resonance Raman scattering (SERRS). This occurs when the analyte contains a chromophore close in energy to the exciting radiation. However, a dye label can also be used to achieve this enhancement if the chromophore is not p ...
FMR1 low sub-genotype does not rescue BRCA1
... Our findings contrast with those from previously reported by Weghofer et al. An explanation for this discrepancy could be that Weghofer et al. used a control population from a different geographic region to where their BRCA1/2-mutation carriers originated (USA versus Austria, respectively). However, ...
... Our findings contrast with those from previously reported by Weghofer et al. An explanation for this discrepancy could be that Weghofer et al. used a control population from a different geographic region to where their BRCA1/2-mutation carriers originated (USA versus Austria, respectively). However, ...
Telomere maintenance without telomerase
... a genome-wide hyper-recombination phenotype. However, this analysis did not exclude the possibility that in a cell that lacked telomerase, unreplicated telomeres could themselves become hyper-recombinogenic, a point that will be re-addressed later in this review. Although all survivors recovered fro ...
... a genome-wide hyper-recombination phenotype. However, this analysis did not exclude the possibility that in a cell that lacked telomerase, unreplicated telomeres could themselves become hyper-recombinogenic, a point that will be re-addressed later in this review. Although all survivors recovered fro ...
Mitochondrial diseases and the role of the yeast models
... yeast the effect of the mutations identified in patients. An A114P missense mutation in the human Ant1 protein was found to be associated with autosomal dominant PEO (adPEO) (Kaukonen et al., 2000). A128P mutation of the S. cerevisiae Aac2 protein, equivalent to A114P in human Ant1, causes a decreas ...
... yeast the effect of the mutations identified in patients. An A114P missense mutation in the human Ant1 protein was found to be associated with autosomal dominant PEO (adPEO) (Kaukonen et al., 2000). A128P mutation of the S. cerevisiae Aac2 protein, equivalent to A114P in human Ant1, causes a decreas ...
Mutagen
In genetics, a mutagen is a physical or chemical agent that changes the genetic material, usually DNA, of an organism and thus increases the frequency of mutations above the natural background level. As many mutations can cause cancer, mutagens are therefore also likely to be carcinogens. Not all mutations are caused by mutagens: so-called ""spontaneous mutations"" occur due to spontaneous hydrolysis, errors in DNA replication, repair and recombination.