• Our assays and panels for somatic mutation analysis enable you to identify the presence of individual specific sequence mutations present in cell lines or research samples that are critical for toxicological, drug development and cancer studies. (qiagen.com)
  • DALLAS - Feb. 10, 2010 - A mutation in a single gene can cause endometrial cancer that is responsive to a specific drug therapy, researchers at UT Southwestern Medical Center have found in an animal study. (eurekalert.org)
  • The finding suggests that eventually it might be possible to screen women with endometrial cancer to see if they have that mutation and use the drug as targeted therapy, the researchers said. (eurekalert.org)
  • However, in one case the Lac+ mutation is likely to be due to a miscoding lesion occurring on the nontranscribed DNA strand, indicating that, at least in this instance, DNA replication is required before directed mutations can arise. (genetics.org)
  • In contrast, the V266H mutation affects the positioning of loop L3, the loop that forms the bulk of the substrate-binding pocket. (ncsu.edu)
  • Could create genetic mutation that harm the animal but may create ones that make it adaptable into living and reproducing. (answers.com)
  • In the 1990s, virologists in New York learned of a genetic mutation that would become one of the most famous ever discovered. (theatlantic.com)
  • Scientists have identified a genetic mutation responsible for a rare condition called epilepsy and mental retardation limited to females (EFMR), The Times reports. (www.nhs.uk)
  • However, mice with a genetic mutation to the gene Gabrb1 overwhelmingly preferred drinking alcohol over water, choosing to consume almost 85% of their daily fluid as drinks containing alcohol. (ucl.ac.uk)
  • Researchers discovered a genetic mutation, which makes breastfeeding physically harder to achieve. (dailymail.co.uk)
  • They're about three and a half feet tall and their origins are mysterious, but an isolated group of Ecuadorians with a genetic mutation causing dwarfism are making news for another reason: They hardly ever get cancer or diabetes. (discovermagazine.com)
  • An international team of scientists writing in the journal Nature Genetics has helped to identify a single genetic mutation in National Paracycling Champion Tom Staniford that has led to his extremely rare condition. (redorbit.com)
  • Image 2 (below): Researchers identify the single genetic mutation responsible for rare condition in UK Paracycling Champion, Tom Staniford. (redorbit.com)
  • Using data from 25,000 people, researchers from the Faculty of Medicine and University College London's Institute of Neurology discovered that a rare genetic mutation in the TREM2 gene - which helps trigger immune system responses - is also associated with increased risk of Alzheimer's. (utoronto.ca)
  • While the genetic mutation we found is extremely rare, its effect on the immune system is a strong indicator that this system may be a key player in the disease," said Dr. Rita Geurreiro from UCL, the study's lead author. (utoronto.ca)
  • A word familiar to all fans of science fiction , mutation refers to any sudden change in DNA - deoxyribonucleic acid, the genetic blueprint for an organism - that creates a change in an organism's appearance, behavior, or health. (encyclopedia.com)
  • Mutations that allow an organism to survive and reproduce better than other members of its species are always beneficial, though a mutation that may be beneficial in some circumstances can be harmful in others. (encyclopedia.com)
  • Mutation A mutation is any heritable change in the genome of an organism. (bookrags.com)
  • Spontaneous Mutations and Reversions Mutations and reversions are events that change the expression of traits of an organism. (bookrags.com)
  • A proportion of favorable mutations of one in a thousand does not sound much, but is probably generous, since so many mutations are lethal, preventing the organism living at all, and the great majority of the rest throw the machinery slightly out of gear. (angelfire.com)
  • In most cases, the somatic cell with the mutation will die, an event that is generally of little consequence in a multicellular organism . (britannica.com)
  • A somatic mutation will only affect the organism which already contains that mutation and will not pass that mutation to its offspring. (answers.com)
  • A gametic mutation may not affect the organism which contains the mutation, but that mutation may or will be passed to its offspring, where the mutation might be, or can be expressed. (answers.com)
  • The mutation has to be a beneficial mutation, meaning that it has to help the survival of the organism that got the mutation. (answers.com)
  • a mutation occurring in a somatic cell, resulting in a change in the morphology or some other aspect of one part of an organism (usually a plant). (dictionary.com)
  • It was clear to me then that cancer is an evolutionary process that the organism does not want," he said: After malignant cells arise through mutation, competition among those cells selects for the ones best able to run rampant through the body. (wired.com)
  • In biology , mutation is a sudden change in the base pair sequence of the genetic material of a living organism , whether the genetic material be deoxyribonucleic acid (DNA) or ribonucleic acid (RNA). (newworldencyclopedia.org)
  • In biology , a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism , virus , or extrachromosomal DNA or other genetic elements. (wikipedia.org)
  • Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism. (wikipedia.org)
  • Similar to somatic mutations, germline mutations can be caused by exposure to harmful substances, which damage the DNA of germ cells. (wikipedia.org)
  • The creation model, on the other hand, would predict that, if there are any such things as real mutations, causing 'vertical' changes in complexity and order of the kings, they will be harmful, not beneficial. (angelfire.com)
  • Accordingly, the great majority of mutations, certainly well over 99%, are harmful in some way, as is to be expected of the effects of accidental occurrences. (angelfire.com)
  • Even if the mutations are not harmful enough to cause their carriers to be eliminated completely by natural selection, the over-all effect is to gradually lower the viability of the population. (angelfire.com)
  • The large majority of mutations, however, are harmful or even lethal to the individual in whom they are expressed. (angelfire.com)
  • Lyon and his team identified 38 people with a harmful NAA15 mutation, 24 of which had autism features and 23 had an intellectual disability. (washington.edu)
  • How can such a harmful mutation be so common? (redorbit.com)
  • However, most mutations actually are harmful, such as seen in genetic diseases, leading to speculation that the role of mutations may be overstated by evolutionary biologists and that other factors, perhaps less random, may be of greater importance in the origin of new designs and macroevolutionary changes. (newworldencyclopedia.org)
  • Genetic suppression therefore restores the phenotype seen prior to the original background mutation. (wikipedia.org)
  • In microbial genetics , a revertant is a mutant that has reverted to its former genotype or to the original phenotype by means of a suppressor mutation, or else by compensatory mutation somewhere in the gene (second site reversion). (wikipedia.org)
  • A dominant mutation only requires 1 mutated gene to produce the disease phenotype , while a recessive mutation requires both alleles to be mutated to produce the disease phenotype. (wikipedia.org)
  • more loosely, the term is applied also to a mutation at another site that masks or suppresses the effect of the first mutation (in fact such organisms are not non-mutant, but double mutants with the same phenotype ). (encyclopedia.com)
  • The abundance of some genetic changes within the gene pool can be reduced by natural selection, while other "more favorable" mutations may accumulate and result in adaptive changes. (wikipedia.org)
  • They used these data to address the relationship between wing-vein variations caused by newly arising mutations, those due to differences between species and those caused by standing genetic variation, which occurs within a species owing to the existence of different versions (alleles) of a gene. (nature.com)
  • Y390C mutation occurs in the serine/threonine kinase domain, [ 26 ] which disrupts the kinase function of CHEK2 and prevents the phosphorylation of downstream factors in the signaling pathway. (medscape.com)
  • On the right, a fairly common mutation in mice causes bands in the coat around the body. (mit.edu)
  • Mice inhabiting a northern town of Israel known for its high concentration of asbestos-contaminated dust, have a higher level of genetic somatic mutations, compared with other regions where asbestos pollution levels are lower. (medicalnewstoday.com)
  • They chose to probe mutations in mice because their generations are renewed every three months, so it could be assumed for the study that dozens of generations of this sample population in Nahariya had already been exposed to the fibers. (medicalnewstoday.com)
  • The results indicated differences between the groups' DNA and that the Nahariya-based mice had higher levels of genetic somatic mutations. (medicalnewstoday.com)
  • They then bred a new line of mice that had the relevant mutation, and those mice were notably insensitive to high temperatures. (ucl.ac.uk)
  • In the first part of the study, mice with particular genetic mutations (including a mutation in a gene called LKB1) were given a virus that causes lung tumours. (www.nhs.uk)
  • Mice with the LKB1 mutation also developed a greater range of tumours than those with the other mutations. (www.nhs.uk)
  • The group showed that mice carrying this mutation were willing to work to obtain the alcohol-containing drink by pushing a lever and, unlike normal mice, continued to do so even over long periods. (ucl.ac.uk)
  • Their experiments on mice suggest that ZnT2 mutations cause deficiencies in breast milk and may create difficulty for breastfeeding in general. (dailymail.co.uk)
  • It is quite remarkable that a single mutation in a relatively rare GABA receptor gene can lead to such a profound change in alcohol consumption. (ucl.ac.uk)
  • We had to look at thirty million base pairs in Tom's DNA, and similar numbers in his family members and the other patients, to identify the single mutation. (redorbit.com)
  • A mutation is any detectable and heritable change in nucleotide sequence that causes a change in genotype and is transmitted to daughter cells and succeeding generations. (nature.com)
  • There were no mutations in this gene in the males with non-EFMR mental retardation or in control X chromosomes from people without mental retardation or epilepsy, which supported the fact that mutations in PCDH19 specifically cause EFMR. (www.nhs.uk)
  • Finally, a common mutation in humans causes red blood cells to be shaped in a sickle pattern as shown above on the upper left. (mit.edu)
  • A common mutation in a gene that regulates cholesterol levels may raise the risk of heart disease in carriers, according to a new UConn Health study. (medicalnewstoday.com)
  • In a diploid cell, a dominant mutation will be expressed over the wild type allele, but a recessive mutation will remain masked by the wild type. (britannica.com)
  • The D614G mutation in particular has been flagged as an urgent concern because it appeared to be emerging as a dominant mutation. (reuters.com)
  • They found several mutations that seemed to be associated with schizophrenia. (livescience.com)
  • The results showed several mutations in the TREM2 gene occurred more frequently in people who had the disease than in those without the disease. (utoronto.ca)
  • Over the eons, advantageous mutations, examples of which we look at later, have allowed life to develop and diversify from primitive cells into the multitude of species - including Homo sapiens - that exist on Earth today. (encyclopedia.com)
  • Those structures stymie evolution by denying advantageous mutations any chance to take over a population. (wired.com)
  • The basic evolution model would predict, therefore, that mutations must be primarily beneficial, generating a 'vertical' change upward toward higher degrees of order. (angelfire.com)
  • As a matter of fact, the phenomenon of a truly beneficial mutation, one which is known to be a mutation and not merely a latent characteristic already present in the genetic material but lacking previous opportunity for expression, and one which is permanently beneficial in the natural environment, has yet to be documented. (angelfire.com)
  • A central premise of the theory of evolution through natural selection is that when beneficial mutations appear, they should spread throughout a population. (wired.com)
  • A mutation on a gene that regulates brain development is associated with a 14-fold increased risk of schizophrenia. (livescience.com)
  • They might be the result of a mutation in cells, or the result of a chemical or nuclear reaction. (dezeen.com)
  • Blood samples from people in the study showed that the people with the mutation had greater expression and greater activity of the gene than people without the mutations, the study said. (livescience.com)
  • Earlier and much smaller studies have shown more vulnerability to the flu and West Nile in people with the mutation, but there is no evidence of increased mortality in the 500,000 people of the U.K. Biobank database. (theatlantic.com)
  • Our results suggest that most coding sequence mutations in cancer are neutral with respect to cancer growth. (pnas.org)
  • If adaptive mutations are rare, as seems to be the case, then rates of DNA sequence evolution are driven mainly by mutation and random drift, as K imura ( 1983a ) has argued. (genetics.org)
  • They compared these sequences with the normal gene sequences and looked for mutations (changes in the sequence). (www.nhs.uk)
  • Once they identified mutations within one gene, they then looked at the sequence of this gene in 87 other women with EFMR-like conditions (epilepsy with cognitive impairment), which had not yet been proven to be EFMR. (www.nhs.uk)
  • As part of the Hemophilia Inhibitor Research Study (HIRS), the Division of Blood Disorders at the Centers for Disease Control and Prevention (CDC) tested more than 1400 patients and identified over 250 unique mutations in the factor VIII gene, F8 , to identify the mutation in the gene that caused their hemophilia A. This Excel database lists mutation results for patients tested as part of HIRS. (cdc.gov)
  • In a recent survey ( D rake 1993a ), most of the mutation rates that could be calculated were necessarily based on results obtained with very small and thus potentially unrepresentative mutational targets, and contained other experimental and calculational uncertainties. (genetics.org)
  • Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration. (cnbc.com)
  • In Mutation, Cook explores the possible results of genetic engineering, zygote implantation, and surrogate motherhood. (bookrags.com)
  • This error-prone process often results in mutations. (wikipedia.org)
  • This was a genetic study which aimed to identify the mutation that causes the disease: epilepsy and mental retardation limited to females (EFMR). (www.nhs.uk)
  • Evolving responsively: adaptive mutation. (nih.gov)
  • The concept of adaptive mutation seemed to challenge this principle with the discoveries of mutations stimulated by stress, some of which allow adaptation to the stress. (nih.gov)
  • In this report we investigate several hypotheses to account for the role of selection in the production of these "directed" or "adaptive" mutations. (genetics.org)