Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Germ-Line Mutation: Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Mutation Rate: The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Homozygote: An individual in which both alleles at a given locus are identical.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Suppression, Genetic: Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Models, Molecular: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Cell Line: Established cell cultures that have the potential to propagate indefinitely.Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.Syndrome: A characteristic symptom complex.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Mutant Proteins: Proteins produced from GENES that have acquired MUTATIONS.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Consanguinity: The magnitude of INBREEDING in humans.Bacterial Proteins: Proteins found in any species of bacterium.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Heterozygote Detection: Identification of genetic carriers for a given trait.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Proto-Oncogene Proteins B-raf: A raf kinase subclass found at high levels in neuronal tissue. The B-raf Kinases are MAP kinase kinase kinases that have specificity for MAP KINASE KINASE 1 and MAP KINASE KINASE 2.Genes, BRCA1: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.DNA, Neoplasm: DNA present in neoplastic tissue.Genetic Variation: Genotypic differences observed among individuals in a population.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.Genes, Bacterial: The functional hereditary units of BACTERIA.Protein Conformation: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Structure-Activity Relationship: The relationship between the chemical structure of a compound and its biological or pharmacological activity. Compounds are often classed together because they have structural characteristics in common including shape, size, stereochemical arrangement, and distribution of functional groups.Drug Resistance, Viral: The ability of viruses to resist or to become tolerant to chemotherapeutic agents or antiviral agents. This resistance is acquired through gene mutation.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Genes, Suppressor: Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.Kinetics: The rate dynamics in chemical or physical systems.COS Cells: CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)Eye ProteinsConserved Sequence: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.INDEL Mutation: A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Genetic Diseases, X-Linked: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Proto-Oncogene Proteins: Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.Temperature: The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.Genes, BRCA2: A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)Ethylnitrosourea: A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.RNA Splicing: The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.RNA Splice Sites: Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Genes, Fungal: The functional hereditary units of FUNGI.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Abnormalities, MultipleRecombinant Fusion Proteins: Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.Protein Structure, Secondary: The level of protein structure in which regular hydrogen-bond interactions within contiguous stretches of polypeptide chain give rise to alpha helices, beta strands (which align to form beta sheets) or other types of coils. This is the first folding level of protein conformation.Tumor Suppressor Protein p53: Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.BRCA2 Protein: A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)Repressor Proteins: Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.Fungal Proteins: Proteins found in any species of fungus.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.ras Proteins: Small, monomeric GTP-binding proteins encoded by ras genes (GENES, RAS). The protooncogene-derived protein, PROTO-ONCOGENE PROTEIN P21(RAS), plays a role in normal cellular growth, differentiation and development. The oncogene-derived protein (ONCOGENE PROTEIN P21(RAS)) can play a role in aberrant cellular regulation during neoplastic cell transformation (CELL TRANSFORMATION, NEOPLASTIC). This enzyme was formerly listed as EC 3.6.1.47.Escherichia coli Proteins: Proteins obtained from ESCHERICHIA COLI.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Cercopithecus aethiops: A species of CERCOPITHECUS containing three subspecies: C. tantalus, C. pygerythrus, and C. sabeus. They are found in the forests and savannah of Africa. The African green monkey (C. pygerythrus) is the natural host of SIMIAN IMMUNODEFICIENCY VIRUS and is used in AIDS research.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Cricetinae: A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Drug Resistance, Microbial: The ability of microorganisms, especially bacteria, to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).Amino Acid Motifs: Commonly observed structural components of proteins formed by simple combinations of adjacent secondary structures. A commonly observed structure may be composed of a CONSERVED SEQUENCE which can be represented by a CONSENSUS SEQUENCE.Trans-Activators: Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Codon, Terminator: Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Gene Expression Regulation, Bacterial: Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.Ethyl Methanesulfonate: An antineoplastic agent with alkylating properties. It also acts as a mutagen by damaging DNA and is used experimentally for that effect.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Arginine: An essential amino acid that is physiologically active in the L-form.Chromosome Deletion: Actual loss of portion of a chromosome.Adenosine Triphosphatases: A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.HIV-1: The type species of LENTIVIRUS and the etiologic agent of AIDS. It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.Virus Replication: The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.Homeodomain Proteins: Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).Osteochondrodysplasias: Abnormal development of cartilage and bone.Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.Family: A social group consisting of parents or parent substitutes and children.Protein Transport: The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.Drug Resistance: Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration.Tumor Suppressor Proteins: Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.Neoplasm Proteins: Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.Mice, Inbred C57BLHeLa Cells: The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.HEK293 Cells: A cell line generated from human embryonic kidney cells that were transformed with human adenovirus type 5.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Glycine: A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.Cell Line, Tumor: A cell line derived from cultured tumor cells.Genes, APC: Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.BRCA1 Protein: The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)Deafness: A general term for the complete loss of the ability to hear from both ears.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Nerve Tissue ProteinsNucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Adaptor Proteins, Signal Transducing: A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymesSerine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.HIV Reverse Transcriptase: A reverse transcriptase encoded by the POL GENE of HIV. It is a heterodimer of 66 kDa and 51 kDa subunits that are derived from a common precursor protein. The heterodimer also includes an RNAse H activity (RIBONUCLEASE H, HUMAN IMMUNODEFICIENCY VIRUS) that plays an essential role the viral replication process.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Membrane Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.Cytoskeletal Proteins: Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Mitochondrial Diseases: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.Operon: In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.Hearing Loss, Sensorineural: Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.Ultraviolet Rays: That portion of the electromagnetic spectrum immediately below the visible range and extending into the x-ray frequencies. The longer wavelengths (near-UV or biotic or vital rays) are necessary for the endogenous synthesis of vitamin D and are also called antirachitic rays; the shorter, ionizing wavelengths (far-UV or abiotic or extravital rays) are viricidal, bactericidal, mutagenic, and carcinogenic and are used as disinfectants.Cysteine: A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.DNA Gyrase: A bacterial DNA topoisomerase II that catalyzes ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands. Gyrase binds to DNA as a heterotetramer consisting of two A and two B subunits. In the presence of ATP, gyrase is able to convert the relaxed circular DNA duplex into a superhelix. In the absence of ATP, supercoiled DNA is relaxed by DNA gyrase.Breast Neoplasms: Tumors or cancer of the human BREAST.Genes, Regulator: Genes which regulate or circumscribe the activity of other genes; specifically, genes which code for PROTEINS or RNAs which have GENE EXPRESSION REGULATION functions.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Cell Transformation, Neoplastic: Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.Dimerization: The process by which two molecules of the same chemical composition form a condensation product or polymer.
Modified peptidoglycan transpeptidase activity in a carbenicillin-resistant mutant of Pseudomonas aeruginosa 18s. (1/138264)
A carbenicillin-resistant mutant of Pseudomonas aeruginosa 18s was found to possess peptidoglycan transpeptidase activity significantly more resistant to inhibition by benzyl penicillin, ampicillin, carbenicillin, and cephaloridine than that of the parent strain. The mutant was more resistant than the parent strain to all of the beta-lactam antibiotics tested, and 50% inhibition values for these compounds against membrane-bound model transpeptidase activity paralleled this increase. The resistance of the mutant to kanamycin, streptomycin, and chloramphenicol was unchanged. (+info)Marker effects on reversion of T4rII mutants. (2/138264)
The frequencies of 2-aminopurine- and 5-bromouracil-induced A:T leads to G:C transitions were compared at nonsense sites throughout the rII region of bacteriophage T4. These frequencies are influenced both by adjacent base pairs within the nonsense codons and by extracodonic factors. Following 2AP treatment, they are high in amber (UAG) and lower in opal (UGA) codons than in allelic ochre (UAA) codons. In general, 5BU-induced transitions are more frequent in both amber and opal codons than in the allelic ochre codons. 2AP- and 5BU-induced transition frequencies in the first and third positions of opal codons are correlated with those in the corresponding positions of the allelic ochre codons. Similarly, the frequencies of 2AP-induced transition in the first and second positions of amber codons and their ochre alleles are correlated. However, there is little correlation between the frequencies of 5BU-induced transitions in the first and second positions of allelic amber and ochre codons. (+info)Nonbehavioral selection for pawns, mutants of Paramecium aurelia with decreased excitability. (3/138264)
The reversal response in Paramecium aurelia is mediated by calcium which carries the inward current during excitation. Electrophysiological studies indicate that strontium and barium can also carry the inward current. Exposure to high concentrations of barium rapidly paralyzes and later kills wild-type paramecia. Following mutagenesis with nitrosoguanidine, seven mutants which continued to swim in the ;high-barium' solution were selected. All of the mutants show decreased reversal behavior, with phenotypes ranging from extremely non-reversing (;extreme' pawns) to nearly wild-type reversal behavior (;partial' pawns). The mutations fall into three complementation groups, identical to the pwA, pwB, and pwC genes of Kunget al. (1975). All of the pwA and pwB mutants withstand longer exposure to barium, the pwB mutants surviving longer than the pwA mutants. Among mutants of each gene, survival is correlated with loss of reversal behavior. Double mutants (A-B, A-C, B-C), identified in the exautogamous progeny of crosses between ;partial' mutants, exhibited a more extreme non-reversing phenotype than either of their single-mutant (;partial' pawn) parents.---Inability to reverse could be expected from an alteration in the calcium-activated reversal mechanism or in excitation. A normal calcium-activated structure was demonstrated in all pawns by chlorpromazine treatment. In a separate report (Schein, Bennett and Katz 1976) the results of electrophysiological investigations directly demonstrate decreased excitability in all of the mutants, a decrease due to an altered calcium activation. The studies of the genetics, the survival in barium and the electro-physiology of the pawns demonstrate that the pwA and pwB genes have different effects on calcium activation. (+info)Testing for selective neutrality of electrophoretically detectable protein polymorphisms. (4/138264)
The statistical assessment of gene-frequency data on protein polymorphisms in natural populations remains a contentious issue. Here we formulate a test of whether polymorphisms detected by electrophoresis are in accordance with the stepwise, or charge-state, model of mutation in finite populations in the absence of selection. First, estimates of the model parameters are derived by minimizing chi-square deviations of the observed frequencies of genotypes with alleles (0,1,2...) units apart from their theoretical expected values. Then the remaining deviation is tested under the null hypothesis of neutrality. The procedure was found to be conservative for false rejections in simulation data. We applied the test to Ayala and Tracey 's data on 27 allozymic loci in six populations of Drosophila willistoni . About one-quarter of polymorphic loci showed significant departure from the neutral theory predictions in virtually all populations. A further quarter showed significant departure in some populations. The remaining data showed an acceptable fit to the charge state model. A predominating mode of selection was selection against alleles associated with extreme electrophoretic mobilities. The advantageous properties and the difficulties of the procedure are discussed. (+info)Apontic binds the translational repressor Bruno and is implicated in regulation of oskar mRNA translation. (5/138264)
The product of the oskar gene directs posterior patterning in the Drosophila oocyte, where it must be deployed specifically at the posterior pole. Proper expression relies on the coordinated localization and translational control of the oskar mRNA. Translational repression prior to localization of the transcript is mediated, in part, by the Bruno protein, which binds to discrete sites in the 3' untranslated region of the oskar mRNA. To begin to understand how Bruno acts in translational repression, we performed a yeast two-hybrid screen to identify Bruno-interacting proteins. One interactor, described here, is the product of the apontic gene. Coimmunoprecipitation experiments lend biochemical support to the idea that Bruno and Apontic proteins physically interact in Drosophila. Genetic experiments using mutants defective in apontic and bruno reveal a functional interaction between these genes. Given this interaction, Apontic is likely to act together with Bruno in translational repression of oskar mRNA. Interestingly, Apontic, like Bruno, is an RNA-binding protein and specifically binds certain regions of the oskar mRNA 3' untranslated region. (+info)oko meduzy mutations affect neuronal patterning in the zebrafish retina and reveal cell-cell interactions of the retinal neuroepithelial sheet. (6/138264)
Mutations of the oko meduzy (ome) locus cause drastic neuronal patterning defect in the zebrafish retina. The precise, stratified appearance of the wild-type retina is absent in the mutants. Despite the lack of lamination, at least seven retinal cell types differentiate in oko meduzy. The ome phenotype is already expressed in the retinal neuroepithelium affecting morphology of the neuroepithelial cells. Our experiments indicate that previously unknown cell-cell interactions are involved in development of the retinal neuroepithelial sheet. In genetically mosaic animals, cell-cell interactions are sufficient to rescue the phenotype of oko meduzy retinal neuroepithelial cells. These cell-cell interactions may play a critical role in the patterning events that lead to differentiation of distinct neuronal laminae in the vertebrate retina. (+info)Cancer genetics: tumor suppressor meets oncogene. (7/138264)
The adenomatous polyposis coli (APC) tumor suppressor protein is inactivated by mutations in the majority of colorectal cancers. A recent study has revealed that alterations in the APC signaling pathway can result in the transcriptional activation of the c-MYC gene. (+info)Alzheimer's disease: clues from flies and worms. (8/138264)
Presenilin mutations give rise to familial Alzheimer's disease and result in elevated production of amyloid beta peptide. Recent evidence that presenilins act in developmental signalling pathways may be the key to understanding how senile plaques, neurofibrillary tangles and apoptosis are all biochemically linked. (+info)
EGFR mutant-specific immunohistochemistry has high specificity and sensitivity for detecting targeted activating EGFR mutations...
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TATA boxMutations[edit]. Figure 3. Effects on TBP binding to the TATA box from mutations. Wildtype shows transcription done normally. ... Point mutations[edit]. Point mutations to the TATA box have similar varying phenotypic changes depending on the gene that is ... Mutations to the TATA box can range from a deletion or insertion to a point mutation with varying effects based on the gene ... Based on the sequence and mechanism of TATA box initiation, mutations such as insertions, deletions, and point mutations to ...
Defining mutations. M242. Highest frequencies. Kets 93.8%,[6] Turkmens 73%,[7] Selkups 66.4%.,[6] Altaians 63.6%.,[8] Tuvans ... Technical specification of mutation[edit]. The technical details of M242 are: Nucleotide change: C to T. Position (base pair): ... The subclades of Haplogroup Q-M242 with their defining mutation (s), according to the 2015 ISOGG tree[4] are provided below. ... Human Mutation. 24 (3): 248-60. doi:10.1002/humu.20077. PMID 15300852.. Q-M323 in 3/20=15% of a sample of Yemenite Jews. ...
75 to 80 percent of Leigh syndrome is caused by mutations in nuclear DNA; mutations affecting the function or assembly of the ... The most common MT-ATP6 mutation found with Leigh syndrome is a point mutation at nucleotide 8993 that changes a thymine to a ... Mutations in mitochondrial DNA (mtDNA) and over 30 genes in nuclear DNA (gene SURF1[8] and some COX assembly factors) have been ... Mitochondrial DNA mutations[edit]. Mitochondria are essential organelles in eukaryotic cells. Their function is to convert the ...
Consonant mutation[edit]. Another feature of the language is initial consonant mutation between singular and plural forms of ... nouns and of verbs (except in Pular, there is no consonant mutation in verbs, only in nouns). ...
Initial mutations[edit]. Main article: Irish initial mutations. In Irish, there are two classes of initial consonant mutations ... Due to initial mutation, prefixes, clitics, suffixes, root inflection, ending morphology, elision, sandhi, epinthesis, and ... Mutations are often the only way to distinguish grammatical forms. For example, the only non-contextual way to distinguish ... possessive pronouns "her," "his" and "their", is through initial mutations since all meanings are represented by the same word ...
Rare mutations[edit]. Women with CAIS, who are completely insensitive to the AR-mediated actions of androgens, have, as a group ...
MDR1 gene mutation[edit]. Recent research at Washington State University indicates that, in addition to many other herding ... breeds, approximately 15% of the English Shepherd population is subject to the MDR1 gene mutation. Dogs that are tested ...
EGFR mutations[edit]. Roughly 10-35% of people who have NSCLC will have drug sensitizing mutations of the EGFR.[43] The ... likely cause the high level of mutation in lung cancer cells of more than 100,000 mutations per genome (see Whole genome ... Several studies have also shown that ALK mutations and EGFR activating mutations are typically mutually exclusive. Thus, it is ... People with these mutations are more likely to have adenocarcinoma histology and be non-smokers or light smokers. These people ...
Mutation[edit]. Whole genome sequencing has established the mutation frequency for whole human genomes. The mutation frequency ... Cause of mutations[edit]. The likely major underlying cause of mutations in carcinomas is DNA damage.[13] For example, in the ... The high mutation frequencies in carcinomas reflect the genome instability characteristic of cancers.[citation needed] ... While a mutation or epimutation in a DNA repair gene, itself, would not confer a selective advantage, such a repair defect may ...
Mutations[edit]. Panem uses genetic engineering to create animals which figure into the Hunger Games or otherwise serve its ... part-human mutations during the second rebellion, so that he could save Katniss's life. This results in Annie being the only ...
Mutation breeding[edit]. Conventional hybridization is difficult to carry out in roselle due to its cleistogamous nature of ... Because of this, a mutation breeding programme was initiated to generate new genetic variability.[21] The use of induced ... Roselle improvement through conventional and mutation breeding. Proc. Intern. Nuclear Conf. 2002, 15-18 Oct 2002, Kuala Lumpur ... These new varieties were developed using Arab as the parent variety in a mutation breeding programme which started in 2006. ...
Sports (mutations)[edit]. Many sports of Gala have been selected, mostly for increased red color, including the popular Royal ...
Mitochondrial mutations in disease[edit]. See also: Mitochondrial diseases. Mutations in mitochondrial DNA are usually single ... This refers to hundreds of independent mutations in one organism, with each mutation found in about 1-2% of all mitochondrial ... In most cases, a muscle mutation level of approximately 18% or less confers a 95% risk reduction.[12] ... Additionally, there is a dose-dependent decrease in reproduction ability for females that have mutations in mitochondrial DNA. ...
Mutation mechanisms and mutation rates[edit]. DNA strand slippage during replication of an STR locus. Boxes symbolize ... Unlike point mutations, which affect only a single nucleotide, microsatellite mutations lead to the gain or loss of an entire ... Microsatellite mutation rates[edit]. Microsatellite mutation rates vary with base position relative to the microsatellite, ... Thus, the mutation rate at microsatellite loci is expected to differ from other mutation rates, such as base substitution rates ...
Deleterious mutation clearance[edit]. Mutations can have many different effects upon an organism. It is generally believed that ... Once a mutation occurs in the DNA or other genetic carrying sequence, there is no way for the mutation to be removed from the ... The next mutation that occurs turns the ratchet once more. Additional mutations in a population continually turn the ratchet ... Muller described this occurrence by comparing the mutations that accumulate as a ratchet. Each mutation that arises in ...
Mutations[edit]. Approximately four hundred type X Charcot-Marie-Tooth causing mutations have been identified within the GJB1 ... Some of these mutations also cause hearing loss in patients with CMTX.[14] Currently it is unknown how the mutations of the ... Most of the mutations of the GJB1 gene switch or change a single amino acid in the gap junction (connexin-32) protein, although ... With the creation of genetic testing, 90% of CMTX cases are now diagnosed using the mutations of the GJB1 (Cx32) gene.[11] The ...
COD has been linked to several genetic mutations including mutations in the guanylate cyclase activator 1A (GUCA1A) and ... Mutations[edit]. Cone dystrophy (COD) is a retinal degradation of photoreceptor function wherein cone function is lost at the ... 2011). "Mutation analysis at codon 838 of the guanylate cycllase 2D gene in spanish families with autosomal dominant cone, cone ... Therefore, mutations in the RETGC-1 can cause COD by increasing intracellular calcium levels and stimulating cone photoreceptor ...
Genetic mutations occur when nucleotide sequences in an organism are altered. These mutations lead to not only observable ... The sources for these mutations can be errors during replication, spontaneous mutations, and chemical and physical mutagens (UV ... Mutations in polycomb-group response elements (PREs)[edit]. The Polycomb-group (PcG) regulatory complexes are known for their ... A mutation in either the NRSF or NRSE can lead to an undesirable development of ventricular myocytes, due to lack of repression ...
Gene mutations[edit]. Genetic mutations and chromosomal abnormalities are two sources of HPG axis alteration.[15] Single ... For example, the male mutation of the GnRH coding gene could result in hypogonadotrophic hypogonadism. A mutation that cause a ... These mutations can occur in the genes coding for GnRH, LH, and FSH or their receptors. Depending on which hormone and receptor ... In females mutations would have analogous effects. Hormone replacement can be used to initiate puberty and continue if the gene ...
In this mutation, the adult male is melanistic with black wings.[8][12] Young birds with the nigripennis mutation are creamy ... Mutations and hybrids[edit]. A white peafowl that is maintained by selective breeding in many parks such as this one at the ... The black-shouldered or Japanned mutation was initially considered as a subspecies P. c. nigripennis (or even a species),[11] ... There are several colour mutations of Indian peafowl. These very rarely occur in the wild, but selective breeding has made them ...
Most mutations have little effect on an organism's phenotype, health, or reproductive fitness.[76] Mutations that do have an ... Mutations occasionally occur within cells in the body as they divide. Although these mutations will not be inherited by any ... Figure (2) shows a missense, single point, non silent mutation. Figures (3 and 4) both show frameshift mutations, which is why ... somatic mutations). The most frequent mutations are a loss of function of p53 protein, a tumor suppressor, or in the p53 ...
a b Sanjuán R, Nebot MR, Chirico N, Mansky LM, Belshaw R. Viral mutation rates. Journal of Virology. 2010;84(19):9733-48. doi: ... Shuda M, Feng H, Kwun HJ, Rosen ST, Gjoerup O, Moore PS, Chang Y. T antigen mutations are a human tumor-specific signature for ... However, viruses are not classified on the basis of phylum or class, as their small genome size and high rate of mutation makes ... Most of these point mutations are "silent" - they do not change the protein that the gene encodes - but others can confer ...
High mutation rate[edit]. Influenza viruses have a relatively high mutation rate that is characteristic of RNA viruses. The ... Three mutations were introduced into the H5N1 virus genome, and the virus was then passed from the noses of infected ferrets to ... Mutations occurring within this genotype are increasing their pathogenicity.[66] Birds are also able to shed the virus for ... Genetic mutations in the hemagglutinin gene that cause single amino acid substitutions can significantly alter the ability of ...
High mutation rate[edit]. The human Y chromosome is particularly exposed to high mutation rates due to the environment in which ... These two conditions combined put the Y chromosome at a greater risk of mutation than the rest of the genome.[16] The increased ... Thus, although a male may have a well adapted Y chromosome free of excessive mutation, it may never make it in to the next gene ... Even if a well adapted Y chromosome manages to maintain genetic activity by avoiding mutation accumulation, there is no ...
Gene mutations[edit]. Several gene mutations have been identified in patients with camptocormia. These include the RYR1 gene in ...
Consonant mutation[edit]. Celtic languages[edit]. See also: Irish initial mutations § Changes to vowel-initial words ...
MutationThese mutations can be passed down genetically and either be lost or become fixed. Since mutation usually affects a single ... To connect the idea of mutations back to our discussion of DNA and proteins, here are some examples of how a mutation in the ... Finally, a common mutation in humans causes red blood cells to be shaped in a sickle pattern as shown above on the upper left. ... A mutation in these garden moss roses (shown in the left) has caused some of the flowers to grow orange rather than yellow. ...
web.mit.eduMost of these mutations are in two genes, one of which codes for myosin, a protein crucial to muscle contraction. These myosin ... "She walked up to me and said, We need to work together to understand how different mutations affect the myosin motif." ... "Wed very much like to work with Raúl to solve these structures using human specimens, with and without HCM mutations," Seidman ... as she discovered many of the mutations we were mapping in the myosin model in our poster," he said. " ...
A suppressor mutation is a second mutation that alleviates or reverts the phenotypic effects of an already existing mutation in ... suppression relieves the effects of a mutation in one gene by a mutation somewhere else within the genome. The second mutation ... Intragenic suppression results from suppressor mutations that occur in the same gene as the original mutation. In a classic ... Genetic suppression therefore restores the phenotype seen prior to the original background mutation.[1] Suppressor mutations ...
A germline mutation can also occur due to exogenous factors. Similar to somatic mutations, germline mutations can be caused by ... Germline mutation is distinct from somatic mutation. Germline mutations can be caused by a variety of endogenous (internal) and ... Patients with this mutation are also at a risk for Li-Fraumeni syndrome.[16] Other examples include mutations in the BRCA1 and ... These mutations can occur in germ cells, allowing them to be heritable.[15] Individuals who inherit germline mutations in TP53 ...
mutation - Wiktionary"mutation" in le Trésor de la langue française informatisé (The Digitized Treasury of the French Language). ... Names for a group: A flute or mutation of thrushes.. *2013, Jason Sacher, A Compendium of Collective Nouns: From an Armory of ... From Middle French mutation, from Old French mutacion, borrowed from Latin mutatio, mutationem. ... A Mutation of Thrushes. The authors of the books of venery were not predicting Darwin with this term, but taking a cue from a ...
Mutation | Encyclopedia.com... mutation refers to any sudden change in DNA-deoxyribonucleic acid, the genetic blueprint for an organism-that creates a change ... MUTATION CONCEPT A word familiar to all fans of science fiction [1], ... Mutation Biology COPYRIGHT 2002 The Gale Group Inc.. Mutation. Mutations are physical changes in genes and chromosomes . They ... Mutation UXL Encyclopedia of Science COPYRIGHT 2002 The Gale Group, Inc.. Mutation. A mutation is a permanent change in a gene ...
Mutation... everything you need for studying or teaching Mutation. ... Immediately download the Mutation summary, chapter-by-chapter ... Same-Sense Mutation A same-sense mutation is form of silent mutation where a change in the base sequence of a gene does not ... Gene Mutation Gene mutation is a sudden change in the DNA making up an individual gene. Gene mutation is a fairly infrequent ... Mutation A mutation is any heritable change in the genome of an organism. For a population, heritable mutations provide the ...
Change in the genetic structure (DNA); it may occur spontaneously or be induced (e.g., by radiation, drugs, or certain mutagenic chemicals ...
5. Mutations affect and are affected by many genes.. The mutation concept is no longer as simple as it once was. Instead of a ... 1. Mutations are random, not directed.. It remains true to say that we know of no way other than random mutation by which new ... 2. Mutations are rare, not common.. It is probably fair to estimate the frequency of a majority of mutations in higher ... 4. The Net Effect of All Mutations is Harmful. Even if the mutations are not harmful enough to cause their carriers to be ...
The production by further mutation [1] of a premutation gene [2] from a mutant gene. This reverse mutation restores the ability ... Strictly, reversion is the correction of a mutation, i.e. ... reverse mutation (reversion) The production by further mutation ... reverse mutation (reversion) The production by further mutation of a premutation gene from a mutant gene. This reverse mutation ... the term is applied also to a mutation at another site that masks or suppresses the effect of the first mutation (in fact such ...
Mechanisms of Mutation GroupThe Mechanisms of Mutation group studies the detailed mechanisms by which mutations occur using the bacterium E. coli as a ... Many E. coli mutator mutants, which have a higher mutation rate than the wild-type strain, have been identified, and their ... Mutations may arise from a multitude of sources, which include errors of DNA replication, multiple DNA damage pathways that ... Conversely, antimutator mutants, displaying a lower mutation rate than the wild-type, have also been isolated. Such ...
Mutation | music | Britannica.com... the pivotal points is called mutation. It enabled the singer to apply the solmization syllables to any series of notes he ... the pivotal points is called mutation. It enabled the singer to apply the solmization syllables to any series of notes he ... Other articles where Mutation is discussed: hexachord: … ... Mutation. music. THIS IS A DIRECTORY PAGE. Britannica does not ...
I-mutation... (also known as i-umlaut) is the raising and fronting of a root vowel in anticipation of i or y s ... I-Mutation. I-MUTATION (also known as i-umlaut) is the raising and fronting of a root vowel in anticipation of i or y ... 6. I-mutation turns up in an adjective formed from a noun by adding -ish in at least one important case: English (Old English ... I-mutation is caused by the very human habit of laziness: taking the shortest distance between two points. The plural of man in ...
... gene mutations are associated with bone marrow disorders called myeloproliferative neoplasms (MPNs) caused by the production of ... The JAK2 mutation test may be used, along with other tests such as CALR mutation and MPL mutation testing, to help diagnose ... have a JAK2 mutation, most for the JAK2 V617F mutation. Additionally, the mutation is also rarely found in people with chronic ... The primary JAK2 test is JAK2 V617F, named for a mutation at a specific location in the JAK2 gene. JAK2 V617F mutation is ...
If known FH-causing mutation | CDCOther family members could still inherit the mutation and should still be tested for the mutation that runs in your family. ... Other family members could still inherit the mutation and should be tested for the mutation that runs in your family. ... You cannot pass the mutation on to your child. If you have LDL cholesterol levels higher than 100 mg/dL, you may be at risk for ... What the test results mean for you and your family if the FH-causing mutation in your family has been found through genetic ...
CHAMP Mutations, United States Excel fileexcel icon. CHBMP F9 Mutation List. The CHBMP F9 Mutation List is an Excel database ... CHAMP F8 Mutation List. The CHAMP F8 mutations that have been reported worldwide. It was compiled from mutations listed ... CHBMP Mutation List Database Excel fileexcel icon. CHBMP F9 Mutations in the United States. As part of the Hemophilia Inhibitor ... CHAMP Mutation List Database Excel fileexcel icon. CHAMP F8 Mutations in the United States. As part of the Hemophilia Inhibitor ...
Mutation. Definition. A mutation is any detectable and heritable change in nucleotide sequence that causes a change in genotype ... Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population *Jae Joon Han ... microphthalmia plus posterior capsule defect in monozygotic twins caused by a novel GJA8 mutation *Hongfang Zhang ...
Pages in category "Manx mutation templates". The following 2 pages are in this category, out of 2 total. ... Retrieved from "https://en.wiktionary.org/w/index.php?title=Category:Manx_mutation_templates&oldid=28295291" ...
Mutations in which one base is changed are called point mutations-for example, substitution of the nucleotide pair AT by GC, CG ... Mutations arise from changes to the DNA of a gene. These changes can be quite small, affecting only one nucleotide pair, or ... Any mutation that results in a lack of function for a particular gene is called a "null" mutation. Less-severe mutations are ... Mechanisms of mutation. Mutations arise from changes to the DNA of a gene. These changes can be quite small, affecting only one ...
hack//Mutation Part 2 - GameSpothack Part 2: Mutation Movie 1. Take a look the intro movie to .hack Part 2: Mutation in this clip. ... hack Part 2: Mutation Review. Even if you really liked the first .hack game, you probably wont like the second installment as ... hack Part 2: Mutation Movie 4. Take a look at some new footage of the second installment of the .hack series. ... hack Part 2: Mutation Movie 2. Kite and a friend explore the depths of a dungeon in The World. ...
A clinician advocates genetic testing to identify asymptomatic mutation carriers who are at risk for several cancers associated ... has written extensively on genetic testing for mutations related to multiple endocrine neoplasia type 1 - a rare, autosomal- ...
MUTATION OF SPECIES. - The New York TimesA version of this archives appears in print on August 30, 1909, on Page 6 of the New York edition with the headline: MUTATION ...
14 Spirant Mutation. 14.1 The spirant mutation happens after the conjunction/preposition a (and, with -- really the same ...
CpG Mutations.. CpG dinucleotides are known to be mutation hotspots in some cancer types (1, 3-5). Thirty-two percent of the ... We also excluded mutations in intronic splice sites. Analysis of mutation data from ref. 1 for Fig. 3 used version 1 of the ... Mutation frequencies for data from refs. 1 and 3-5 were calculated by dividing the observed number of nonsynonymous mutations ... Transition mutations occur at a significantly higher rate than transversion mutations (6-8). Substitution rates depend on ...
![mental [per]mutation - KiEw | Last.fm](data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAABAAAAAQCAYAAAAf8/9hAAAABHNCSVQICAgIfAhkiAAAAYVJREFUOI2lksErg3EYxz+/9xUlarKFHOS2cqFmZzlwWO2IdkGtkH/BzdlJWXGUg/vwvgfRjg4o5aCtVisM2UJJ2ft1eV/WuGy+9dTv+f2ez9Pz9P0ZQfICth+hjyYUgfIYLJkzeKpAbzNwoBBUrFZhgCr0WK3CgdrqE88PAQaw/PCAml9jGiCrHg6nUkze35OQmCiV6J2Z4RPoX1lh6uWFhEQ8l8P7q4ENxPb2KGYyZI2htLvL+P4+Bhjd2uJqeZmsMWDbdMdiKJjIBXlAXzrN6M4OWWPoAD6A6WqVfCbDYDJJeyTCnetSnJ/nw/OwGyewOju/uwYPt47D0NwcpyMjFDY36R4eZrJWoysa/al1QQ7oGCRJ12trOgBdr68rNzAgSbrZ2FAWdAjyJF2uruoI5IJw/cMR6Dyd1nu5LEl6LRR0Eo3qbHZWb/m8JMmTdOc437ALMi4/0zTaZfuWBtYGqwX7//oHge/1Mn/cNTL/khWC51bhEFSsOCyG4aFZOAwPcVj4AmQVq8I3yAO8AAAAAElFTkSuQmCC)
mental [per]mutation - KiEw | Last.fm... mutation (Montreal Permutation, Käferfrühstück and more). 30 tracks (132:35). Discover more music, concerts, videos, and ...
GenesTumorsDetectionAnalysisGenetic MutationsFrameshift mutationResearchersGenomesOrganismOccurCancers2018HarmfulAlterationFavorable mutationsSuppressor mutationsRates of spontaneous mutationGeneticsSingle mutationMajority of mutationsHeritable changeChromosomesSilent mutationCommon mutationDominant mutationParticular mutationProteinsSearchJAK2MiceDeleteriousDetectMutantDetectableGerminal mutationSeveral mutationsAdvantageous mutationsAccumulateFrequencyBRCA1DisruptDeoxyribonucleic acidGene that regulatesMutational processesResult of a mutationPeople with the mutationRare genetic mutationBeneficialNewlyTumorAdaptiveAriseCarriersEvolutionarySecond mutationAffectsOrganism's
- Several genes known to contain mononucleotide short tracts in their coding sequences (TGF-β RII, IGFIIR, BAX, hMSH6, and hMSH3) are likely targets for mutations in these tumors. (uniroma1.it)
- 0%). The mutations frequently were distributed heterogeneously throughout the tumors. (uniroma1.it)
- Overall, frameshift mutations at i or more of these mononucleotide repeat microsatellites were found in 17 of 24 MI+ tumors (70.8%) but in none of the 10 MI negative neoplasms. (uniroma1.it)
- In the seven EC patients with lymph node metastases, mutations in IGFRH were found more commonly in those with metastatic (three of seven patients) rather than primary (one of seven) tumors. (uniroma1.it)
- The frequent detection of IGFRII frameshift mutations in lymph node metastases suggest that IGFRII may play a role in tumor progression in these patients. (uniroma1.it)
- Frameshift mutations at coding mononucleotide repeats were detected by single strand conformation polymorphism analysis and DNA sequencing. (uniroma1.it)
- Earlier studies of asbestos have already shown that the thin fibers, which penetrate the body by inhalation or through consumption of food contaminated with the material, not only cause certain cancers but also genetic mutations in DNA structures. (medicalnewstoday.com)
- Data from the Israeli Ministry of Health indicate a rise in the number of cancer patients from exposure to asbestos in the Western Galilee region of northern Israel, and therefore the scientists set out to examine whether genetic mutations are found in the mouse population living in its northern town of Nahariya. (medicalnewstoday.com)
- 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)
- The researchers then investigated the effects of the mutations and the interactions between the different genetic mutations and the characteristics of the lung tumours that developed in the mice. (www.nhs.uk)
- A new research effort carried out by the drug titan Pfizer was able to successfully locate 15 genetic mutations linked to depression, thanks to the 450,000 individuals who gave 23andMe permission to use their genetic data for such research. (extremetech.com)
- The treatment goes after one major genetic mutations that causes the disease, called G551. (discovermagazine.com)
- Researchers unveiled a comprehensive look at the genetic mutations responsible for two cancers Wednesday as part of a broad government-sponsored initiative to enlist the power of genomic information to transform cancer treatment. (foxnews.com)
- None of these patients had any family with a history of the condition, suggesting that their condition may have been caused by genetic mutations. (redorbit.com)
- A pioneering stem-cell trial has been halted after genetic mutations were discovered in the cells of the second trial participant. (newscientist.com)
- Another type of point mutation that can lead to drastic loss of function is a frameshift mutation , the addition or deletion of one or more DNA bases. (britannica.com)
- Large deletions of many codons will not only remove amino acids from a protein but may also result in a frameshift mutation if the number of nucleotides deleted is not a multiple of three. (britannica.com)
- In a frameshift mutation, a nucleotide is added or deleted to the sequence and the decoding of the entire gene sequence will be radically altered and the amino acid sequence of the protein produced will also be very different. (factmonster.com)
- Researchers showed that mutations caused by either a single base insertion (+) or a single base deletion (-) could be "suppressed" or restored by a second mutation of the opposite sign, as long as the two mutations occurred in the same vicinity of the gene. (wikipedia.org)
- Therefore, researchers concluded that the second mutation of opposite sign suppresses the original mutation by restoring the reading frame, as long as the portion between the two mutations is not critical for protein function. (wikipedia.org)
- Researchers examined a mutation called the missense rs4238001 variant, which alters the type of protein made by the gene SCARB1, and thereby the body's cholesterol regulation. (medicalnewstoday.com)
- But now that the UConn study made the connection between the mutation in SCARB1 and heart disease, the researchers want to figure out a way to fix it. (medicalnewstoday.com)
- Two other mutations causing congenital analgesia are being actively explored by researchers alongside pharmaceutical firms, but have yet to yield any breakthrough drugs. (ucl.ac.uk)
- Heart disease is one of the world's leading killers, but now that researchers have identified this common mutation, carried by one in 25 people of Indian origin, we have hope of reducing the burden that the disease causes. (redorbit.com)
- Researchers have discovered the first definitive proof that a mutation in a single gene can cause Parkinson's disease, the second most common brain degenerative disorder after Alzheimer's disease. (wsj.com)
- By investigating 7,329,860 somatic mutations from the cancer genomes, the researchers were able to effectively look back in time, calculating which mutations each cell had had before it became a cancer cell. (lanl.gov)
- NEW YORK, Jan. 31 (UPI) -- A gene mutation could increase the potential of aggressive tumor development in men suffering from prostate cancer, U.S. researchers say. (upi.com)
- After HIV researchers made CCR5 -Δ32 famous, scientists in other fields got interested in the mutation, too. (theatlantic.com)
- The second part of this study found that only 34% of human lung tumours had the mutations in the gene that the researchers were investigating. (www.nhs.uk)
- In the second part of the study, the researchers looked at DNA from 144 frozen samples of human lung cancer tumours and looked for the presence of four mutations, including the mutation at LKB1. (www.nhs.uk)
- In the second part of the study, the researchers found an LKB1 mutation in 34% of the human lung adenocarcinomas and in 19% of the human squamous cell carcinomas. (www.nhs.uk)
- Knowing that there is an association between the LKB1 mutation and some lung cancers does not mean that researchers would know how to prevent cancer in people with this mutation. (www.nhs.uk)
- This led the researchers to identify the gene Gabrb1 which changes alcohol preference so strongly that mice carrying either of two single base-pair point mutations in this gene preferred drinking alcohol (10% ethanol v/v - about the strength of wine), over water. (ucl.ac.uk)
- The researchers found that the gene mutation caused the receptor to activate spontaneously even when the usual GABA trigger was not present. (ucl.ac.uk)
- Researchers at the University of North Carolina at Chapel Hill School of Medicine have found that the 22q11 gene deletion - a mutation that confers the highest known genetic risk for schizophrenia - is associated with changes in the development of the brain that ultimately affect how its circuit elements are assembled. (psychcentral.com)
- Researchers had access to samples from both early and later stages of the disease, enabling them to see the order in which key mutations appeared in affected blood cells. (newscientist.com)
- Researchers discovered a genetic mutation, which makes breastfeeding physically harder to achieve. (dailymail.co.uk)
- Reuters) - A specific mutation in the new coronavirus can significantly increase its ability to infect cells, according to a study by U.S. researchers. (reuters.com)
- The researchers say that it is still unknown whether this small mutation affects the severity of symptoms of infected people, or increases mortality. (reuters.com)
- Image 2 (below): Researchers identify the single genetic mutation responsible for rare condition in UK Paracycling Champion, Tom Staniford. (redorbit.com)
- In a study of Bayer AG (BAYN) 's drug Stivarga, researchers analyzed tissue and blood samples from patients with gastrointestinal stromal tumors, or GIST, to find cancer-driving mutations. (bloomberg.com)
- As cancer treatments increasingly home in on known genetic causes of the disease, researchers need better tools to determine just what mutations each patient has, said George Demetri, director of the Ludwig Center at Dana-Farber Cancer Institute and Harvard Medical School, who led the trial. (bloomberg.com)
- Bayer jointly promotes Stivarga with Onyx Pharmaceuticals Inc. In the study, researchers took blood samples from patients once their cancer had progressed and analyzed them for mutations, including so- called secondary mutations that cause resistance to those drugs. (bloomberg.com)
- Newer versions of the technology are being worked on now that would enable researchers to seek out unidentified cancer-causing mutations, which could be helpful for drug development. (bloomberg.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)
- 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)
- CAMBRIDGE, England, March 18-Researchers have identified a mutation in the tyrosine kinase JAK2 gene that could lead to better diagnostic tests and novel treatments for certain myeloproliferative blood disorders, according to a study in Saturday's issue of The Lancet . (medpagetoday.com)
- To distinguish myeloproliferative disorders from reactive conditions, particularly secondary thrombocytosis and erythrocytosis, can be difficult and so detection of the Val617Phe mutation could become a widely used diagnostic test," the researchers said. (medpagetoday.com)
- ➋, genomes with two mutations, which may arise in sequential replications (as in the fourth line) or during a single replication (as in the bottom line). (pnas.org)
- Mutation rates in RNA viruses, whose genomes contain ca. 10 4 bases, are roughly 1 per genome per replication for lytic viruses and roughly 0.1 per genome per replication for retroviruses and a retrotransposon. (genetics.org)
- Through the course of a lifetime all cells are thought to acquire mutations in their genomes. (lanl.gov)
- Sebat and his colleagues looked for gene mutations in the genomes of 8,290 people with schizophrenia and 7,431 healthy people. (livescience.com)
- The team sequenced and compared the entire genomes of the participants and their families, helping them pinpoint the exact mutation responsible for MDP Syndrome. (redorbit.com)
- 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 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)
- With Padrón's expertise in structural biology and Seidman's keen knowledge of genetics, the two investigated how HCM-associated mutations change the structural interactions of myosin that occur during cardiac relaxation. (harvard.edu)
- Intragenic suppression results from suppressor mutations that occur in the same gene as the original mutation. (wikipedia.org)
- Germline mutations can be caused by a variety of endogenous (internal) and exogenous (external) factors, and can occur throughout zygote development. (wikipedia.org)
- Germline mutations can occur before fertilization and during various stages of zygote development. (wikipedia.org)
- The types of mutations that occur also tend to vary between the sexes. (wikipedia.org)
- A germline mutation can also occur due to exogenous factors. (wikipedia.org)
- Germinal mutations are those that occur in the egg or sperm cells and therefore can be passed on to the organism's offspring. (encyclopedia.com)
- Mutations may occur due to exposure to natural mutagens such as ultraviolet (UV) light, to industrial or environmental mutagens such as be. (bookrags.com)
- For a population, heritable mutations provide the source of genetic variation, without which evolution could not occur: If all. (bookrags.com)
- Radiation Mutagenesis Mutations are caused by DNA damage and genetic alterations that may occur spontaneously at a very low rate. (bookrags.com)
- If recessive mutations occur in both members of one gene pair in the same cell, the mutant phenotype will be expressed. (britannica.com)
- Transition mutations occur at a significantly higher rate than transversion mutations ( 6 - 8 ). (pnas.org)
- Note that such trends could reflect mutations arising before carcinogenesis that are carried along by subsequent clonal expansion, in addition to mutations that occur within the cancer cells themselves. (pnas.org)
- IT IS well known that cancers can develop from mutations in DNA - but now we've seen for the first time that a person's fate may depend on the order in which they occur. (newscientist.com)
- Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or viruses , or can occur deliberately under cellular control during processes such as hypermutation. (newworldencyclopedia.org)
- Mutations can also occur in nongenic regions . (wikipedia.org)
- We then show that the increased CpG mutation frequency observed in some cancers primarily occurs outside of CpG islands and CpG island shores, thus rejecting the hypothesis that the increase is a byproduct of island or shore methylation followed by deamination. (pnas.org)
- We observe an A→G vs. T→C mutational asymmetry in some cancers similar to one that has been observed in germline mutations in transcribed regions, suggesting that the mutation process may be influenced by gene expression. (pnas.org)
- In contrast, TpC dinucleotides are a mutation hotspot in breast cancers ( 16 ), but not in the germline ( 17 ). (pnas.org)
- We first examine the overall impact of selection on the mutation spectra by comparing synonymous and nonsynonymous substitution frequencies (mutations per site sequenced) in pancreatic cancer and glioblastoma multiforme ( 4 , 5 ) and by examining the nature of amino acid changes in breast and colorectal cancers ( 1 ). (pnas.org)
- To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11 847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America. (nih.gov)
- BRCA1 mutations may confer increased risks of other abdominal cancers in women and increased risks of pancreatic cancer in men and women. (nih.gov)
- If the effects of mutation order were established for all common cancers, it could have a dramatic impact on treatment, says Kent. (newscientist.com)
- We hope that our study will stimulate the search in other cancers for whether or not the order of mutation acquisition matters," he says. (newscientist.com)
- Still a woman's lifetime risk of developing the aforementioned cancers increases exponentially if she inherits a detrimental mutation in BRCA1 or BRCA2 . (inquisitr.com)
- The risk of BRCA-related breast cancers for men with the mutation is higher than for non-mutation carriers, but breast cancer occurrences in men are still low - accounting for only one percent of all breast cancers and typically to males over the age of 60. (inquisitr.com)
- But BRCA mutations can escalate the risk of other cancers in men, such as colon cancer, pancreatic cancer, and prostate cancer. (inquisitr.com)
- In 2018, a Chinese scientist named He Jiankui made the mutation infamous when he attempted to use CRISPR to edit CCR5 -Δ32 (pronounced "CCR5-delta-32") into human embryos. (theatlantic.com)
- 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)
- Because proteins called enzymes control most cell activities, a mutation affecting an enzyme can result in alteration of other cell components. (factmonster.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)
- Suppressor mutations are useful for identifying new genetic sites which affect a biological process of interest. (wikipedia.org)
- In addition to the reading frame, Crick also used suppressor mutations to determine codon size. (wikipedia.org)
- Rates of spontaneous mutation are critical to understanding the genetic structure of populations over time and thus to understanding the course of evolution. (pnas.org)
- Rates of spontaneous mutation per genome as measured in the laboratory are remarkably similar within broad groups of organisms but differ strikingly among groups. (genetics.org)
- A basic principle of genetics is that the likelihood that a particular mutation occurs is independent of its phenotypic consequences. (nih.gov)
- Few investigators of the genetics of RNA viruses have focused specifically on mutation rates , although mutant frequencies are often noted to be high compared with those observed in microbes with DNA chromosomes. (genetics.org)
- Working at the MRC Mammalian Genetics Unit, a team led by Professor Howard Thomas from Imperial College London introduced subtle mutations into the genetic code at random throughout the genome and tested mice for alcohol preference. (ucl.ac.uk)
- 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)
- Human Mutation is a peer-reviewed medical journal of human genetics published by Wiley-Liss on behalf of the Human Genome Variation Society. (wikipedia.org)
- 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)
- It is probably fair to estimate the frequency of a majority of mutations in higher organisms between one in ten thousand and one in a million per gene per generation. (angelfire.com)
- However, the majority of mutations actually identified are presumed to be "passenger" mutations that are not advantageous to the cancer cell ( 2 ). (pnas.org)
- 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)
- Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then rearrange. (wikipedia.org)
- What is a silent mutation? (reference.com)
- On the right, a fairly common mutation in mice causes bands in the coat around the body. (mit.edu)
- 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)
- In the course of running those assays, we came across a particular mutation in a patient and his mother," senior author Deborah L. Levy, PhD, director, Psychology Research Laboratory, McLean Hospital, Boston, told Medscape Medical News . (medscape.com)
- One particular mutation involved a structural rearrangement that included a triplication of the glycine decarboxylase gene. (medscape.com)
- People who had one particular mutation, in a gene called the VIPR2, which regulates brain neuron development and activity, were 14 times more likely to have schizophrenia than people without the mutation, the study said. (livescience.com)
- It was found that the reason the second amber mutation could suppress the first one is that the two numerically reduced structural proteins would now be in balance. (wikipedia.org)
- They determined that the Stellar mutation, which occurs in one of the proteins that make up the SPT complex, causes an increase in the number of "long" 20-carbon sphingolipids. (cnbc.com)
- If we can identify women who will have trouble with breast-feeding while they're still pregnant - by identifying mutations in their ZnT2 proteins - then maybe we can help them better prepare before the baby comes. (dailymail.co.uk)
- This test looks for mutations in JAK2 that are associated with bone marrow disorders caused by the production of too many blood cells. (labtestsonline.org)
- The bone marrow disorders caused by JAK2 mutations are known as myeloproliferative neoplasms (MPNs) in which the bone marrow produces too many white blood cells, red blood cells, and/or platelets. (labtestsonline.org)
- The primary JAK2 test is JAK2 V617F, named for a mutation at a specific location in the JAK2 gene. (labtestsonline.org)
- JAK2 V617F mutation is acquired as opposed to inherited and results in the change of a single DNA nucleotide base pair. (labtestsonline.org)
- Other mutations in the JAK2 gene are also associated with MPNs. (labtestsonline.org)
- There are tests available to detect mutations in JAK2 exon 12 and to identify other non-V617F mutations. (labtestsonline.org)
- Of these, the team identified 12 samples in which TET2 had unequivocally mutated first, and another 12 in which the JAK2 mutation came first. (newscientist.com)
- They found that disease was noticeable 10 years earlier in people with JAK2 -first mutations, because they were overproducing blood cells at high levels from the outset. (newscientist.com)
- In cell culture, these mutants were easier to kill with targeted JAK2 inhibitor drugs than cells from those with TET2 -first mutations, but Kent's team has yet to test that this is also true inside the human body. (newscientist.com)
- By contrast, the disease was more hidden in those who developed TET2 mutations first and was more likely to develop into full-blown leukaemia, but people in this group were less likely to suffer or die from blood clots than those who developed JAK2 mutations first. (newscientist.com)
- In a study comparing 140 patients with myeloproliferative disorders against 90 controls with type 1 diabetes, scientists at Cambridge University here found that a remarkable 71 of 73 patients (97 percent) with polycythemia vera had the acquired, single-point mutation of the JAK2 gene, known as Val617Phe. (medpagetoday.com)
- Identification of the Val617Phe mutation will also stimulate clinical development of small-molecule inhibitors of JAK2, which could provide novel approaches to treatment," the scientists added. (medpagetoday.com)
- Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. (medpagetoday.com)
- 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)
- Mice with the LKB1 mutation also developed a greater range of tumours than those with the other mutations. (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)
- 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)
- Much work remains to be done before scientists understand precisely how the newly discovered gene mutation leads to Alzheimer's, but already there are some indications from studies in mice. (nytimes.com)
- Recombination and its enabling partner, sex, probably persist primarily because of the deleterious consequences of mutation ( 1 ). (pnas.org)
- a mutation that is deleterious or advantageous in a large population may be neutral in a small population, where random drift outweighs selection coefficients. (genetics.org)
- Natural selection is proposed to increase beneficial mutations and select against and eliminate deleterious mutations. (newworldencyclopedia.org)
- We also demonstrate that the relative frequency of mutations at dinucleotide "hotspots" can be used as a tool to detect likely technical artifacts in large-scale studies. (pnas.org)
- Attempts to detect order in these mutation rates have revealed certain underlying patterns. (genetics.org)
- The screen, called BEAMing technology, is sensitive enough to detect even rare mutations circulating in the blood stream in the form of free DNA, genetic material shed from tumors. (bloomberg.com)
- reverse mutation ( reversion ) The production by further mutation of a premutation gene from a mutant gene. (encyclopedia.com)
- Ignoring rare precise back mutations and in the absence of selection, this mutant subpopulation will persist at the frequency f 1 . (pnas.org)
- A germline mutation , or germinal mutation , is any detectable variation within germ cells (cells that, when fully developed, become sperm and ovum ). (wikipedia.org)
- The mutations were not detectable in the original skin cells from the patient, suggesting that they probably occurred as a result of the iPS-cell procedure. (newscientist.com)
- on the other hand, if a germinal mutation is involved, what was once an abnormality may become so common in certain populations that it emerges as the norm. (encyclopedia.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)
- because if they continued forever, too many mutations would accumulate in the individual. (scienceblogs.com)
- The molecular clocks generate mutations at a steady rate, the "ticking" rate of the clock, and accumulate more mutations with age. (lanl.gov)
- Nonlethal mutations accumulate within the gene pool and increase the amount of genetic variation. (wikipedia.org)
- The frequency of these mutations can be increased by using special age. (bookrags.com)
- The man probably more responsible than any other for the modern view of evolution known as neo-Darwinism, which says evolution proceeds by the accumulation of small mutations preserved by natural selection, is even less confident in the frequency of beneficial mutations. (angelfire.com)
- This study clearly indicates that there is a link between the higher levels of asbestos in the environment and the frequency of genetic somatic mutations in the mammals," the scientists said. (medicalnewstoday.com)
- Here, we describe a robust relationship among the mutation frequency f , the easily determined growth parameter c , and the mutation rate μ. (pnas.org)
- Their familial descent was chosen since the Ashkenazi Jewish population is much more likely to have a BRCA1 and BRCA2 gene mutation. (upi.com)
- Cancer Incidence in BRCA1 mutation carriers. (nih.gov)
- Germline BRCA1 mutations confer a substantial lifetime risk of breast and ovarian cancer, but whether cancer at other sites is increased is less clear. (nih.gov)
- Relative risks (RRs) of each cancer type in BRCA1 carriers relative to risks for the general population were estimated by weighting individuals according to their estimated probability of being a mutation carrier. (nih.gov)
- In carriers of BRCA1 mutations, the overall increased risk of cancer at sites other than breast and ovary is small and is observed in women but generally not in men. (nih.gov)
- Mutations in BRCA1 and BRCA2 are uncommon. (inquisitr.com)
- It's been suggested BRCA1 mutations may increase a woman's risk of developing cervical, uterine, pancreatic, and colon cancer, and BRCA2 the risk of pancreatic cancer, stomach cancer, gallbladder and bile duct cancer, and melanoma. (inquisitr.com)
- Genetic testing can assess if the mutations are present in the BRCA1 and BRCA2 through a DNA blood analysis. (inquisitr.com)
- A good example is mutations that disrupt seed dispersal, leaving the seeds on the heads long after they are ripe. (wiktionary.org)
- Mutations in Lkb1 disrupt its "braking" action on cancer and contribute to the disease in lungs, skin and other tissues. (eurekalert.org)
- Mutation A mutation is a sudden change in DNA (deoxyribonucleic acid), the genetic material of life. (bookrags.com)
- In most organisms, this means the mutation impacts the base pairs of deoxyribonucleic acid (DNA). (newworldencyclopedia.org)
- The mutation affects a gene that regulates learning and behavior, which makes sense considering these cognitive abilities are often impaired in people with schizophrenia, said study researcher Jonathan Sebat, an assistant professor of psychiatry and cellular and molecular medicine at the University of California, San Diego. (livescience.com)
- A mutation on a gene that regulates brain development is associated with a 14-fold increased risk of schizophrenia. (livescience.com)
- We first show that selection (negative or positive) has affected only a small fraction of mutations, allowing us to attribute observed trends to underlying mutational processes rather than selection. (pnas.org)
- Some of the mutational processes generating these mutations do so in bursts and these will often be through external exposures such as sunbathing or tobacco smoking. (lanl.gov)
- Other mutational processes, however, may be internal to the cell and generate mutations continuously, at a constant rate over decades. (lanl.gov)
- 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)
- In two double-blind, placebo-controlled trials, investigators studied a mother and a son, each of whom had a different psychotic disorder but carried the same rare genetic mutation - a copy number variant (CNV) involving four, instead of the usual two, copies of the gene that encodes glycine decarboxylase ( GLDC ). (medscape.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)
- It will be updated annually with newly published or submitted mutations and corrections. (cdc.gov)
- Mutation is a newly formed 4 piece heavy metal band from the Twin Cities. (first-avenue.com)
- Because the mutations in the newly discovered gene are rare, occurring in no more than 2 percent of Alzheimer's patients, it makes no sense to start screening people for them, Dr. Thies said. (nytimes.com)
- A simple blood sample turned up cancer-causing mutations more frequently than a tumor biopsy in a study that suggests the approach could help deliver a clearer picture of the disease and better tailor patients' treatments. (bloomberg.com)
- 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)
- Mutations arise from changes to the DNA of a gene. (britannica.com)
- Both parents were heterozygous carriers of the mutation. (medscape.com)
- The bad news is that many of these mutation carriers have no warning that they are in danger," said Perundurai S. Dhandapany from Madurai Kamaraj University, Madurai, India, "but the good news is that we now know the impact of this mutation. (redorbit.com)
- 001). There was some evidence of an elevated risk of prostate cancer in mutation carriers younger than 65 years old (RR = 1.82, 95% CI = 1.01 to 3.29, P =.05) but not in those 65 years old or older (RR = 0.84, 95% CI = 0.53 to 1.33, P =.45). (nih.gov)
- Mutation is a phenomenon significant to many aspects of life on Earth and is one of the principal means by which evolutionary change takes place. (encyclopedia.com)
- Mutations become especially important when an organism's environment is changing - something that has happened often over the course of evolutionary history. (encyclopedia.com)
- It is now possible to specify some of the evolutionary forces that shape these diverse mutation rates. (genetics.org)
- The existence of strong taxonomic patterns of mutability implies that genomic mutation rates are close to an evolutionary equilibrium whose driving forces we consider here. (genetics.org)
- In evolutionary theory , specifically the theory of evolution by natural selection , mutation is considered the main source of new variation in a population. (newworldencyclopedia.org)
- A suppressor mutation is a second mutation that alleviates or reverts the phenotypic effects of an already existing mutation in a process defined synthetic rescue . (wikipedia.org)
- The second mutation is not on the same gene as the original mutation. (wikipedia.org)
- Since mutation usually affects a single individual in a population, the initial fraction is small and the probability of fixation is thus also small (high probability of loss). (mit.edu)
- The authors concluded that mutation in the LKB1 gene affects the ability of a cell to suppress the development of a tumour. (www.nhs.uk)
- The mutation makes a patient three times more likely to develop the disease, although it affects just 0.3 per cent of the population. (utoronto.ca)
- Does not this fact show that mutations are really assaults on the organism's central being, its basic capacity to be a living thing? (angelfire.com)
- Mutations involve a change in the base pair of an organism's genetic material. (newworldencyclopedia.org)