Genetic Variation: Genotypic differences observed among individuals in a population.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.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.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.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.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Geography: The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)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).Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.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.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).DNA Copy Number Variations: Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Gene Flow: The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.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.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.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.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.Antigenic Variation: Change in the surface ANTIGEN of a microorganism. There are two different types. One is a phenomenon, especially associated with INFLUENZA VIRUSES, where they undergo spontaneous variation both as slow antigenic drift and sudden emergence of new strains (antigenic shift). The second type is when certain PARASITES, especially trypanosomes, PLASMODIUM, and BORRELIA, survive the immune response of the host by changing the surface coat (antigen switching). (From Herbert et al., The Dictionary of Immunology, 4th 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.Inbreeding: The mating of plants or non-human animals which are closely related genetically.Genetic Drift: The fluctuation of the ALLELE FREQUENCY from one generation to the next.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Phylogeography: A field of study concerned with the principles and processes governing the geographic distributions of genealogical lineages, especially those within and among closely related species. (Avise, J.C., Phylogeography: The History and Formation of Species. Harvard University Press, 2000)Environment: The external elements and conditions which surround, influence, and affect the life and development of an organism or population.Breeding: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Random Amplified Polymorphic DNA Technique: Technique that utilizes low-stringency polymerase chain reaction (PCR) amplification with single primers of arbitrary sequence to generate strain-specific arrays of anonymous DNA fragments. RAPD technique may be used to determine taxonomic identity, assess kinship relationships, analyze mixed genome samples, and create specific probes.China: A country spanning from central Asia to the Pacific Ocean.Population Dynamics: The pattern of any process, or the interrelationship of phenomena, which affects growth or change within a population.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.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.Population Density: Number of individuals in a population relative to space.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.Principal Component Analysis: Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.Ecosystem: A functional system which includes the organisms of a natural community together with their environment. (McGraw Hill Dictionary of Scientific and Technical Terms, 4th ed)Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.Homozygote: An individual in which both alleles at a given locus are identical.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Reproduction: The total process by which organisms produce offspring. (Stedman, 25th ed)Seasons: Divisions of the year according to some regularly recurrent phenomena usually astronomical or climatic. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Adaptation, Biological: Changes in biological features that help an organism cope with its ENVIRONMENT. These changes include physiological (ADAPTATION, PHYSIOLOGICAL), phenotypic and genetic changes.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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.Mimulus: A plant genus of the family Phrymaceae. Members contain 6-geranylflavanones and mimulone.EuropeAdaptation, Physiological: The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.Population: The total number of individuals inhabiting a particular region or area.Amplified Fragment Length Polymorphism Analysis: The detection of RESTRICTION FRAGMENT LENGTH POLYMORPHISMS by selective PCR amplification of restriction fragments derived from genomic DNA followed by electrophoretic analysis of the amplified restriction fragments.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Multifactorial Inheritance: A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.Catechol O-Methyltransferase: Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Bayes Theorem: A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.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.Genomic Structural Variation: Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.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.Endangered Species: An animal or plant species in danger of extinction. Causes can include human activity, changing climate, or change in predator/prey ratios.Trees: Woody, usually tall, perennial higher plants (Angiosperms, Gymnosperms, and some Pterophyta) having usually a main stem and numerous branches.Genetic Structures: The biological objects that contain genetic information and that are involved in transmitting genetically encoded traits from one organism to another.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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.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).Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.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.Mating Preference, Animal: The selection or choice of sexual partner in animals. Often this reproductive preference is based on traits in the potential mate, such as coloration, size, or behavioral boldness. If the chosen ones are genetically different from the rejected ones, then NATURAL SELECTION is occurring.Genetic Fitness: The capability of an organism to survive and reproduce. The phenotypic expression of the genotype in a particular environment determines how genetically fit an organism will be.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Body Size: The physical measurements of a body.Islands: Tracts of land completely surrounded by water.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.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Genetic Speciation: The splitting of an ancestral species into daughter species that coexist in time (King, Dictionary of Genetics, 6th ed). Causal factors may include geographic isolation, HABITAT geometry, migration, REPRODUCTIVE ISOLATION, random GENETIC DRIFT and MUTATION.DNA, Chloroplast: Deoxyribonucleic acid that makes up the genetic material of CHLOROPLASTS.AfricaComputer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.Animals, Inbred Strains: Animals produced by the mating of progeny over multiple generations. The resultant strain of animals is virtually identical genotypically. Highly inbred animal lines allow the study of certain traits in a relatively pure form. (Segen, Dictionary of Modern Medicine, 1992)Genetic Pleiotropy: A phenomenon in which multiple and diverse phenotypic outcomes are influenced by a single gene (or single gene product.)Demography: Statistical interpretation and description of a population with reference to distribution, composition, or structure.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.HapMap Project: A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.Sexual Behavior, Animal: Sexual activities of animals.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Ecology: The branch of science concerned with the interrelationship of organisms and their ENVIRONMENT, especially as manifested by natural cycles and rhythms, community development and structure, interactions between different kinds of organisms, geographic distributions, and population alterations. (Webster's, 3d ed)Pinus: A plant genus in the family PINACEAE, order Pinales, class Pinopsida, division Coniferophyta. They are evergreen trees mainly in temperate climates.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.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.Climate: The longterm manifestations of WEATHER. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)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.Models, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Likelihood Functions: Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.Genealogy and HeraldryGenes, Plant: The functional hereditary units of PLANTS.Flowers: The reproductive organs of plants.Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.Fertility: The capacity to conceive or to induce conception. It may refer to either the male or female.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Host-Parasite Interactions: The relationship between an invertebrate and another organism (the host), one of which lives at the expense of the other. Traditionally excluded from definition of parasites are pathogenic BACTERIA; FUNGI; VIRUSES; and PLANTS; though they may live parasitically.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Sex Characteristics: Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.Genes, Insect: The functional hereditary units of INSECTS.Linear Models: Statistical models in which the value of a parameter for a given value of a factor is assumed to be equal to a + bx, where a and b are constants. The models predict a linear regression.Population Groups: Individuals classified according to their sex, racial origin, religion, common place of living, financial or social status, or some other cultural or behavioral attribute. (UMLS, 2003)Minisatellite Repeats: Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.Serotonin Plasma Membrane Transport Proteins: Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of serotonergic neurons. They are different than SEROTONIN RECEPTORS, which signal cellular responses to SEROTONIN. They remove SEROTONIN from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. Regulates signal amplitude and duration at serotonergic synapses and is the site of action of the SEROTONIN UPTAKE INHIBITORS.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Cytochromes b: Cytochromes of the b group that have alpha-band absorption of 563-564 nm. They occur as subunits in MITOCHONDRIAL ELECTRON TRANSPORT COMPLEX III.Circadian Rhythm: The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.IndiaConservation of Natural Resources: The protection, preservation, restoration, and rational use of all resources in the total environment.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.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.Observer Variation: The failure by the observer to measure or identify a phenomenon accurately, which results in an error. Sources for this may be due to the observer's missing an abnormality, or to faulty technique resulting in incorrect test measurement, or to misinterpretation of the data. Two varieties are inter-observer variation (the amount observers vary from one another when reporting on the same material) and intra-observer variation (the amount one observer varies between observations when reporting more than once on the same material).United StatesButterflies: Slender-bodies diurnal insects having large, broad wings often strikingly colored and patterned.Odds Ratio: The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.Nutrigenomics: The study of the relationship between NUTRITIONAL PHYSIOLOGY and genetic makeup. It includes the effect of different food components on GENE EXPRESSION and how variations in GENES effect responses to food components.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Ecotype: Geographic variety, population, or race, within a species, that is genetically adapted to a particular habitat. An ecotype typically exhibits phenotypic differences but is capable of interbreeding with other ecotypes.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.Plant Leaves: Expanded structures, usually green, of vascular plants, characteristically consisting of a bladelike expansion attached to a stem, and functioning as the principal organ of photosynthesis and transpiration. (American Heritage Dictionary, 2d ed)Pan troglodytes: The common chimpanzee, a species of the genus Pan, family HOMINIDAE. It lives in Africa, primarily in the tropical rainforests. There are a number of recognized subspecies.Smegmamorpha: Group of fish under the superorder Acanthopterygii, separate from the PERCIFORMES, which includes swamp eels, mullets, sticklebacks, seahorses, spiny eels, rainbowfishes, and KILLIFISHES. The name is derived from the six taxa which comprise the group. (From http://www.nanfa.org/articles/Elassoma/elassoma.htm, 8/4/2000)Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.Cistus: A plant genus of the family CISTACEAE. The common name of rock rose is also sometimes used with the closely related Helianthemum genus (CISTACEAE).Mice, Inbred Strains: Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.Pigmentation: Coloration or discoloration of a part by a pigment.Heredity: The transmission of traits encoded in GENES from parent to offspring.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)JapanAfrican Americans: Persons living in the United States having origins in any of the black groups of Africa.Dalbergia: A plant genus of the family FABACEAE. Members of this genus can cause CONTACT DERMATITIS.Seeds: The encapsulated embryos of flowering plants. They are used as is or for animal feed because of the high content of concentrated nutrients like starches, proteins, and fats. Rapeseed, cottonseed, and sunflower seed are also produced for the oils (fats) they yield.Daphnia: A diverse genus of minute freshwater CRUSTACEA, of the suborder CLADOCERA. They are a major food source for both young and adult freshwater fish.Cattle: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.Quercus: A plant genus of the family FAGACEAE that is a source of TANNINS. Do not confuse with Holly (ILEX).Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.Asia: The largest of the continents. It was known to the Romans more specifically as what we know today as Asia Minor. The name comes from at least two possible sources: from the Assyrian asu (to rise) or from the Sanskrit usa (dawn), both with reference to its being the land of the rising sun, i.e., eastern as opposed to Europe, to the west. (From Webster's New Geographical Dictionary, 1988, p82 & Room, Brewer's Dictionary of Names, 1992, p34)South AmericaTemperature: 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.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.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.Arabidopsis: A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.Longevity: The normal length of time of an organism's life.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.Continental Population Groups: Groups of individuals whose putative ancestry is from native continental populations based on similarities in physical appearance.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)DNA, Ribosomal Spacer: The intergenic DNA segments that are between the ribosomal RNA genes (internal transcribed spacers) and between the tandemly repeated units of rDNA (external transcribed spacers and nontranscribed spacers).Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Reference Values: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.Animals, Wild: Animals considered to be wild or feral or not adapted for domestic use. It does not include wild animals in zoos for which ANIMALS, ZOO is available.Beetles: INSECTS of the order Coleoptera, containing over 350,000 species in 150 families. They possess hard bodies and their mouthparts are adapted for chewing.Human Genome Project: A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.DNA Fingerprinting: A technique for identifying individuals of a species that is based on the uniqueness of their DNA sequence. Uniqueness is determined by identifying which combination of allelic variations occur in the individual at a statistically relevant number of different loci. In forensic studies, RESTRICTION FRAGMENT LENGTH POLYMORPHISM of multiple, highly polymorphic VNTR LOCI or MICROSATELLITE REPEAT loci are analyzed. The number of loci used for the profile depends on the ALLELE FREQUENCY in the population.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)LizardsCentral AmericaGene Pool: The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.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.Genome, Insect: The genetic complement of an insect (INSECTS) as represented in its DNA.5' Flanking Region: The region of DNA which borders the 5' end of a transcription unit and where a variety of regulatory sequences are located.Costa RicaPanamaEnzymes: Biological molecules that possess catalytic activity. They may occur naturally or be synthetically created. Enzymes are usually proteins, however CATALYTIC RNA and CATALYTIC DNA molecules have also been identified.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.

Hidden genetic variability within electromorphs in finite populations. (1/30484)

The amount of hidden genetic variability within electromorphs in finite populations is studied by using the infinite site model and stepwise mutation model simultaneously. A formula is developed for the bivariate probability generating function for the number of codon differences and the number of electromorph state differences between two randomly chosen cistrons. Using this formula, the distribution as well as the mean and variance of the number of codon differences between two identical or nonidentical electromorphs are studied. The distribution of the number of codon differences between two randomly chosen identical electromorphs is similar to the geometric distribution but more leptokurtic. Studies are also made on the number of codon differences between two electromorphs chosen at random one from each of two populations which have been separated for an arbitrary number of generations. It is shown that the amount of hidden genetic variability is very large if the product of effective population size and mutation rate is large.  (+info)

The Lewontin and Krakauer test on quantitative characters. (2/30484)

It is shown that LEWONTIN and KRAKAUER's test could also be applied to quantitative characters that do not show important dominance and epistatic genetic variances. The design of experiments for this purpose and the error of the estimation of F are discussed.  (+info)

Expression of the naturally occurring truncated trkB neurotrophin receptor induces outgrowth of filopodia and processes in neuroblastoma cells. (3/30484)

We have investigated the effects of the truncated trkB receptor isoform T1 (trkB.T1) by transient transfection into mouse N2a neuroblastoma cells. We observed that expression of trkB.T1 leads to a striking change in cell morphology characterized by outgrowth of filopodia and processes. A similar morphological response was also observed in SH-SY5Y human neuroblastoma cells and NIH3T3 fibroblasts transfected with trkB.T1. N2a cells lack endogenous expression of trkB isoforms, but express barely detectable amounts of its ligands, brain-derived neurotrophic factor (BDNF) and neurotrophin-4 (NT-4). The morphological change was ligand-independent, since addition of exogenous BDNF or NT-4 or blockade of endogenous trkB ligands did not influence this response. Filopodia and process outgrowth was significantly suppressed when full-length trkB.TK+ was cotransfected together with trkB.T1 and this inhibitory effect was blocked by tyrosine kinase inhibitor K252a. Transfection of trkB.T1 deletion mutants showed that the morphological response is dependent on the extracellular, but not the intracellular domain of the receptor. Our results suggest a novel ligand-independent role for truncated trkB in the regulation of cellular morphology.  (+info)

Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. (4/30484)

The aetiology of sporadic medullary thyroid carcinoma is unknown. About 50% harbour a somatic mutation at codon 918 of RET (M918T). To investigate whether other RET sequence variants may be associated with or predispose to the development of sporadic medullary thyroid carcinoma, we analysed genomic DNA from the germline and corresponding tumour from 50 patients to identify RET sequence variants. In one patient, tumour DNA showed a novel somatic 12 bp in-frame deletion in exon 15. More interestingly, we found that the rare polymorphism at codon 836 (c.2439C > T; S836S) occurred at a significantly higher frequency than that in control individuals without sporadic medullary thyroid carcinoma (Fisher's exact test, P = 0.03). Further, among the nine evaluable cases with germline c.2439C/T, eight also had the somatic M918T mutation in MTC DNA which was more frequent than in patients with the more common c.2439C/C (89% vs 40%, respectively; Fisher's exact test, P = 0.01). These findings suggest that the rare sequence variant at codon 836 may somehow play a role in the genesis of sporadic medullary thyroid carcinoma.  (+info)

The nuclear receptor superfamily has undergone extensive proliferation and diversification in nematodes. (5/30484)

The nuclear receptor (NR) superfamily is the most abundant class of transcriptional regulators encoded in the Caenorhabditis elegans genome, with >200 predicted genes revealed by the screens and analysis of genomic sequence reported here. This is the largest number of NR genes yet described from a single species, although our analysis of available genomic sequence from the related nematode Caenorhabditis briggsae indicates that it also has a large number. Existing data demonstrate expression for 25% of the C. elegans NR sequences. Sequence conservation and statistical arguments suggest that the majority represent functional genes. An analysis of these genes based on the DNA-binding domain motif revealed that several NR classes conserved in both vertebrates and insects are also represented among the nematode genes, consistent with the existence of ancient NR classes shared among most, and perhaps all, metazoans. Most of the nematode NR sequences, however, are distinct from those currently known in other phyla, and reveal a previously unobserved diversity within the NR superfamily. In C. elegans, extensive proliferation and diversification of NR sequences have occurred on chromosome V, accounting for > 50% of the predicted NR genes.  (+info)

Hemoglobin Providence. A human hemoglobin variant occurring in two forms in vivo. (6/30484)

Hemoglobin Providence Asn and Hemoglobin Providence Asp are two abnormal hemoglobins which apparently arise from a single genetic change that substitutes asparagine for lysine at position 82 (EF6) in the beta chain of human hemoglobin. The second form appears to be thr result of a partial in vivo deamidation of the asparagine situated at position beta 82. Cellulose acetate and citrate agar electrophoresis of hemolysates from patients with this abnormality shows three bands. Globin chain electrophoresis at acid and alkaline pH shows three beta chains. These three chains correspond to the normal beta A chain and two abnormal beta chains. Sequence analysis indicates that the two abnormal chains differ from beta A at only position beta 82. In the two abnormal chains, the residue which is normally lysine is substituted either by asparagine or by aspartic acid. These substitutions are notable because beta 82 lysine is one of the residues involved in 2,3-diphosphoglycerate binding. Additionally, beta 82 lysine is typically invariant in hemoglobin beta chain sequences. Sequence data on the two forms of Hemoglobin Providence are given in this paper. The functional properties of these two forms are described in the next paper.  (+info)

Isolation and characterization of two mouse L cell lines resistant to the toxic lectin ricin. (7/30484)

Two variant mouse L cell lines (termed CL 3 and CL 6) have been selected for resistant to ricin, a galactose-binding lectin with potent cytotoxic activity. The resistant lines exhibit a 50 to 70% decrease in ricin binding and a 300- to 500-fold increase in resistance to the toxic effects of ricin. Crude membrane preparations of CL 3 cells have increased sialic acid content (200% of control), while the galactose, mannose, and hexosamine content is within normal limits. Both the glycoproteins and glycolipids of CL 3 cells have increased sialic acid, with the GM3:lactosylceramide ratios for parent L and CL 3 cells being 0.29 and 1.5, respectively. In contrast, the membranes of CL 6 cells have a decrease in sialic acid, galactose, and hexosamine content with mannose being normal. Both cell lines have specific alterations in glycosyltransferase activities which can account for the observed membrane sugar changes. CL 3 cells have increased CMP-sialic acid:glycoprotein sialyltransferase and GM3 synthetase activities, while CL 6 cells have decrease UDP-GlcNAc:glycoproteinN-acetylglucosaminyltransferase and DPU-galactose:glycoprotein galactosyltransferase activities. The increased sialic acid content of CL 3 cells serves to mask ricin binding sites, since neuraminidase treatment of this cell line restores ricin binding to essentially normal levels. However, the fact that neuraminidase-treated CL 3 cells are still 45-fold resistant to ricin indicates that either a special class of productive ricin binding sites is not being exposed or that the cell line has a second mechanism for ricin resistance.  (+info)

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk. (8/30484)

The activity of the aromatase enzyme, which converts androgens into oestrogens and has a major role in regulating oestrogen levels in the breast, is thought to be a contributing factor in the development of breast cancer. We undertook this study to assess the role of constitutional genetic variation in the human aromatase gene (Cyp19) in the development of this disease. Our genotyping of 348 cases with breast cancer and 145 controls (all Caucasian women) for a published tetranucleotide repeat polymorphism at intron 4 of the Cyp19 gene revealed the presence of six common and two rare alleles. Contingency table analysis revealed a significant difference in allelic distribution between cases and controls (chi2 5df = 13.52, P = 0.019). The allele measuring 171 bp was over-represented in cases; of 14 individuals homozygous for this allele, 13 were cases. These individuals had a higher incidence of cancer in family members and an earlier age at diagnosis than other cases. In sequencing Cyp19's coding exons and regulatory regions, we discovered a perfect association between a silent polymorphism (G-->A at Val80) and the high-risk genotype. Our conclusion is that constitutional genetic variation at the Cyp19 locus is associated with the risk of developing breast cancer, with the 171-bp allele serving as the high-risk allele.  (+info)

View Notes - Ch 3 - Nature Nurture & Human Diversity from PSYC 101 at UBC. Nature, Nurture & Nature, Human Diversity 100 Oct 6 08 True or False 1) Even complex human traits are determined by a
Different variations in the same gene influence how well different ethnic groups, and people within the same ethnic group, respond to various antipsychotic medications, report NIMH-funded researchers. If confirmed, their findings could one day help clinicians predict which medication is most likely to help a patient, based on his or her genetic makeup.. A medication that works well for one person with schizophrenia often doesnt work well for another. Genetic variations are thought to play a key role in this difference in response. While patients search for the right medications, their illnesses may worsen. Studies such as this one are aimed at discovering how specific gene variations affect patients responses to specific medications, to better match patients to treatments.. The gene containing the variations, RGS4, had been implicated in schizophrenia in previous studies. It makes a protein that is thought to regulate the effects of receptors found on brain cells. The receptors, called ...
Human genetic variation may directly or indirectly influence response to modern antiretroviral therapies for HIV. It is already known that some immunogenetic and other human genetic variations affect the natural history of HIV disease progression where individuals are untreated, but less information is available as to whether these differences are still relevant in the context of HAART. Antiretroviral therapy adds additional opportunities for human genetic contributions to affect variable prognosis--in particular for those genes which influence pharmacokinetics and/or adverse events.
Author Summary Like many primate species, the mating system of humans is considered to be moderately polygynous (i.e., males exhibit a higher variance in reproductive success than females). As a consequence, males are expected to have a lower effective population size (Ne) than females, and the proportion of neutral genetic variation on the X chromosome (relative to the autosomes) should be higher than expected under the assumption of strict neutrality and an equal breeding sex ratio. We test for the effects of polygyny by measuring levels of neutral polymorphism at 40 independent loci on the X chromosome and autosomes in six human populations. To correct for mutation rate heterogeneity among loci, we divide our diversity estimates within human populations by divergence with orangutan at each locus. Consistent with expectations under a model of polygyny, we find elevated levels of X-linked versus autosomal diversity. While it is possible that multiple demographic processes may contribute to the observed
The origin and evolution of "ORFans" (suspected genes without known relatives) remain unclear. Here, we take advantage of a unique opportunity to examine the population diversity of thousands of ORFans, based on a collection of 35 complete genomes of isolates of Escherichia coli and Shigella (which is included phylogenetically within E. coli). As expected from previous studies, ORFans are shorter and AT-richer in sequence than non-ORFans. We find that ORFans often are very narrowly distributed: the most common pattern is for an ORFan to be found in only one genome. We compared within-species population diversity of ORFan genes with those of two control groups of non-ORFan genes. Patterns of population variation suggest that most ORFans are not artifacts, but encode real genes whose protein-coding capacity is conserved, reflecting selection against nonsynonymous mutations. Nevertheless, nonsynonymous nucleotide diversity is higher than for non-ORFans, whereas synonymous diversity is roughly the ...
Background: A molecular process based genotype-to-phenotype map will ultimately enable us to predict how genetic variation among individuals results in phenotypic alterations. Building such a map is, however, far from straightforward. It requires understanding how molecular variation reshapes developmental and metabolic networks, and how the functional state of these networks modifies phenotypes in genotype specific way. We focus on the latter problem by describing genetic variation in transcript levels of genes in the InR/TOR pathway among 72 Drosophila melanogaster genotypes. Results: We observe tight co-variance in transcript levels of genes not known to influence each other through direct transcriptional control. We summarize transcriptome variation with factor analyses, and observe strong co-variance of gene expression within the dFOXO-branch and within the TOR-branch of the pathway. Finally, we investigate whether major axes of transcriptome variation shape phenotypes expected to be influenced
Past events like fluctuations in population size and post-glacial colonization processes may influence the relative importance of genetic drift, migration and selection when determining the present day patterns of genetic variation. We disentangle how drift, selection and migration shape neutral and adaptive genetic variation in 12 moor frog populations along a 1700 km latitudinal gradient. We studied genetic differentiation and variation at a MHC exon II locus and a set of 18 microsatellites. Using outlier analyses, we identified the MHC II exon 2 (corresponding to the β-2 domain) locus and one microsatellite locus (RCO8640) to be subject to diversifying selection, while five microsatellite loci showed signals of stabilizing selection among populations. STRUCTURE and DAPC analyses on the neutral microsatellites assigned populations to a northern and a southern cluster, reflecting two different post-glacial colonization routes found in previous studies. Genetic variation overall was lower in the
View Notes - 640Lecture0705 from EEOB 640 at Ohio State. TYPES OF GENETIC VARIATION protein variation how do we measure variability structural similarity? how immunology Variation in enzyme
TY - JOUR. T1 - PCSK9 Loss-of-Function Variants, Low-Density Lipoprotein Cholesterol, and Risk of Coronary Heart Disease and Stroke. T2 - Data from 9 Studies of Blacks and Whites. AU - Kent, Shia T.. AU - Rosenson, Robert S.. AU - Avery, Christy L.. AU - Chen, Yii Der I.. AU - Correa, Adolfo. AU - Cummings, Steven R.. AU - Cupples, L. Adrienne. AU - Cushman, Mary. AU - Evans, Daniel S.. AU - Gudnason, Vilmundur. AU - Harris, Tamara B.. AU - Howard, George. AU - Irvin, Marguerite R.. AU - Judd, Suzanne E.. AU - Jukema, J. Wouter. AU - Lange, Leslie. AU - Levitan, Emily B.. AU - Li, Xiaohui. AU - Liu, Yongmei. AU - Post, Wendy S.. AU - Postmus, Iris. AU - Psaty, Bruce M.. AU - Rotter, Jerome I.. AU - Safford, Monika M.. AU - Sitlani, Colleen M.. AU - Smith, Albert V.. AU - Stewart, James D.. AU - Trompet, Stella. AU - Sun, Fangui. AU - Vasan, Ramachandran S.. AU - Woolley, J. Michael. AU - Whitsel, Eric A.. AU - Wiggins, Kerri L.. AU - Wilson, James G.. AU - Muntner, Paul. PY - 2017/8/1. Y1 - ...
TY - JOUR. T1 - A systematic survey of loss-of-function variants in human protein-coding genes. AU - MacArthur, Daniel G.. AU - Balasubramanian, Suganthi. AU - Frankish, Adam. AU - Huang, Ni. AU - Morris, James. AU - Walter, Klaudia. AU - Jostins, Luke. AU - Habegger, Lukas. AU - Pickrell, Joseph K.. AU - Montgomery, Stephen B.. AU - Albers, Cornelis A.. AU - Zhang, Zhengdong. AU - Conrad, Donald F.. AU - Lunter, Gerton. AU - Zheng, Hancheng. AU - Ayub, Qasim. AU - DePristo, Mark A.. AU - Banks, Eric. AU - Hu, Min. AU - Handsaker, Robert E.. AU - Rosenfeld, Jeffrey A.. AU - Fromer, Menachem. AU - Jin, Mike. AU - Mu, Xinmeng Jasmine. AU - Khurana, Ekta. AU - Ye, Kai. AU - Kay, Mike. AU - Saunders, Gary Ian. AU - Suner, Marie Marthe. AU - Hunt, Toby. AU - Barnes, If H A. AU - Amid, Clara. AU - Carvalho-Silva, Denise R.. AU - Bignell, Alexandra H.. AU - Snow, Catherine. AU - Yngvadottir, Bryndis. AU - Bumpstead, Suzannah. AU - Cooper, David N.. AU - Xue, Yali. AU - Romero, Irene Gallego. AU - Wang, ...
The rare orchid, Isotria medeoloides (Pursh) Raf., is a threatened species native to the Eastern United States. The species range extends from Maine to Georgia, with many populations including fewer than 25 individuals. The degree of genetic variation among populations could have important implications for conservation strategies. This study evaluated the level of genetic variation within and among I. medeoloides populations through analysis of microsatellite regions, which contain dinucleotide repeats. The lengths of these regions are highly variable and have high mutation rates, making microsatellites a powerful genetic marker. Genetic variation was assessed at two microsatellite loci among 15 populations and three regions (New England, Virginia and Georgia). In this largely self-pollinating species, the inbreeding coefficient was high (Fis =0.964) indicating a high rate of self-fertilization. Populations in New England harbor the most genetic diversity. Southern populations are monomorphic, or
AFTER the establishment of the field of ecological genetics more than 30 years ago (Clarke 1975) rapid progress in molecular marker development and analysis technology has generated a surge of renewed interest in identification of selective footprints of natural selection in a wide range of species (e.g., Schlötterer 2002). Among numerous research strategies developed to infer the evidence of selection in natural populations at the molecular level (reviewed by Nielsen 2005; Vasemägi and Primmer 2005), associations between environmental variables and molecular marker polymorphisms are commonly taken as strong support for the hypothesis that natural selection maintains single-locus clinal variation (e.g., Eanes 1999; Baines et al. 2004). However, it has often been overlooked that single-locus clines can also be the result of various neutral evolutionary processes, such as hybridization of previously isolated populations, founder events, and migrational patterns, such as spatially restricted gene ...
Estimating KIR Haplotype Frequencies on a Cohort of 10,000 Individuals: A Comprehensive Study on Population Variations, Typing Resolutions, and Reference Haplotypes. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
9780131838765 Our cheapest price for Race and Human Diversity: A Biocultural Approach is $44.89. Free shipping on all orders over $35.00.
Some people experience more bitterness and less sweetness when drinking alcoholic beverages, and this relates to inherited genes.
NKX3.1 and β-catenin expression variations might be related to macrophage infiltration in tissues consequent to inflammation.Tissues adjacent to the sections w
Scientists use cancer biomarkers to predict a patients risk of developing cancer, their prognosis and response to therapy and their chance of disease recurrence. A biomarker could be a genetic mutation, the presence of a particular protein or an inherited genetic variation. Moffitt researchers focused their attention on inherited genetic variations in genes called interleukins. They genotyped the DNA of 33 interleukin genes from 651 NSCLC patients. "Interleukins have important roles in regulating cell growth, cell death and in the activation of the immune system," explained Matthew Schabath, Ph.D., assistant member of the Cancer Epidemiology Program at Moffitt. "Inherited genetic variations in interleukins and other genes can change their function and promote cancer development or control a patients response to therapy." The researchers discovered that patients who had certain genetic variations in interleukin genes had a better response to either surgery or chemotherapy, resulting in ...
The nature of standing genetic variation and its relation to phenotypic variation in plants affects our understanding of evolution (1), sustainable agriculture, and preservation of inter- and intraspecific variation in times of environmental change. Maize inbred lines have an average nucleotide diversity in genic regions around 1% (π = 1 to 1.4%) (2, 3), similar to the divergence between humans and chimpanzees (4). It is not uncommon to find maize haplotypes that are 5% divergent from one another (5), which indicates that the maize gene pool reaches back 2 to 4 million years (with one generation per year).. Maize is adapted to a range of environments from the lowland tropics to the Andean highlands and has been widely introduced worldwide into both temperate and tropical regions. Maizes genetic architecture for flowering time has evolved as its wild relatives adapted to distinct ecological zones in elevations differing by more than 3000 m in Mexico and then under both natural and artificial ...
Habitat fragmentation threatens the maintenance of genetic diversity of affected populations. Assessment of the risks associated with habitat fragmentation is a big challenge as the change in population genetic diversity is a dynamic process, often acting over long time periods and depending on various characteristics pertaining to both species (life history traits) and their populations (extrinsic characteristics). With this survey, we provide an introductory overview for persons who have to make or are interested in making predictions about the fate of forest-dwelling plant populations which have recently become fragmented and isolated from their main occurrences. We provide a concise introduction to the field of population genetics focusing on terms, processes and phenomena relevant to the maintenance of genetic diversity and vitality of plant populations. In particular the antagonistic effects of gene flow and random genetic drift are covered. A special chapter is devoted to Central European tree
Genetic variations may hold clues to rheumatoid arthritis -- suggesting not only who will develop the condition, but also predicting its severity and a patients mortality risk.
These results illustrate the highly dynamic pattern of CGV across three different environmental conditions that can be evoked by a stress response over a relatively short time-span (2 h) and that CGV is mainly determined by response related trans regulatory eQTL.
The identification and characterization of functional genetic variation is essential for future advances in molecular diagnostics, pharmacogenomics, and personalized medicine. Recent attempts at identifying nucleotide level variation (somatic mutations and single nucleotide polymorphisms [SNPs]) on a genomic scale have linked variation to gene expression, however fail to provide mechanisms for how variation can affect protein function. Herein I have identified nucleotide variation that affects the activity of two proto-oncogenes, MYC (c-Myc) and MYB (c-Myb), and characterized the role this variation plays in oncogenesis and cell differentiation. Burkitts Lymphomas (BLs) acquire consistent point mutations in a conserved Myc Box I domain. In Chapter 2, I report that the enhanced transforming activity of BL-associated MYC mutants can be uncoupled from loss of phosphorylation and increased protein stability. Furthermore, two different BL-associated MYC mutations induced similar gene expression ...
Professor Louis Bernatchez - Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec; Canada Research Chair in Genetic Management of Freshwater Species. Species across the globe are experiencing drastic changes in environmental conditions as a result of human activities. Understanding and predicting how organisms respond to human-driven environmental change is therefore a major concern.
According to current research, the African continent is the ancestral home of modern humans. Scientists studying patterns in human genetic variation have observed the greatest amount of human genetic diversity in African populations. Genetic variation outside of Africa-in Europe and Asia-includes some, but not all, of the genetic variation found in Africa, which suggests that between 140,000 and 290,000 years ago, Homo sapiens migrated out of Africa to colonize Europe, Asia and the Americas. This Out of Africa theory is supported by studies of mtDNA, the Y chromosome, portions of the X chromosome, and some but not all autosomal (non-sex determining) regions, as well as the archaeological record. The role of genetics in human variation had to evolve before the "Out of Africa" theory of ancestry could be fully understood. Perhaps the most significant scientific development in helping to further understand human biological variation was the discovery of genes and the growth of genetic research. In ...
A study carried out by dozens of scientists, and published in Nature Genetics, identified 15 new genetic markers that can increase the risk of breast cancer. Each of these genetic variations, identified through this study and other research, is known to raise a womans risk of breast cancer by a small amount. Its another step towards a better understanding of how genetic variations work to increase the risk of this type of cancer. ...
Proceedings of the World Congress on Genetics Applied to Livestock Production, Volume Genetic improvement programmes: Selection using molecular information - Lecture Sessions, , 0944, ...
The blobs are constructed and arranged so that the average distance between two points (individuals) within the same cluster is almost as big as the average distance between two points (individuals) in different clusters. This is easy to achieve if the ellipsoids are big and flat (like pancakes) and placed close to each other along the flat directions. The figure is meant to show how one can have small Fst, as in humans, yet easily resolved clusters. The direction in which the gap between the clusters appears is one of the principal components in the space of human genetic variation, as recently found by bioinformaticists. The figure at the top of this post plots individuals as points in the space generated by the two largest principal components extracted from the combination of data from HapMap and from large statistics sampling of Europeans. Exhibited this way, isolated clusters ("races") are readily apparent ...
TY - JOUR. T1 - Genetic variation and neurological disease. AU - Rosenberg, Roger N.. PY - 1980. Y1 - 1980. N2 - Genetic mutants inevitably affect enzyme structure or modify protein metabolism. In some cases a single genetic defect can give rise to a neurological syndrome, but in most cases the genetic basis of neurological disease is far more complex. In this review Roger Rosenberg examines the rapid progress which is being made in identifying the patterns of genetic variation which underlie these problems, and their effective treatment.. AB - Genetic mutants inevitably affect enzyme structure or modify protein metabolism. In some cases a single genetic defect can give rise to a neurological syndrome, but in most cases the genetic basis of neurological disease is far more complex. In this review Roger Rosenberg examines the rapid progress which is being made in identifying the patterns of genetic variation which underlie these problems, and their effective treatment.. UR - ...
Leprosy continues to remain a major health problem in many parts of the world, regardless of long history of research, advances in the medical field and the introduction of Multidrug therapy (MDT) in 1980s. The inability to grow the bacterium in vitro has been one of the inadequacies to unravel the intricacies of the biology of the disease. Yet efforts have been made to identify the role of host genetic factors to understand susceptibility mechanisms, especially in the background of limited genetic diversity between different isolates of M. leprae. Research has progressed over the years in identifying many candidates as risk providers, using genome wide linkage, association and candidate gene studies. However, search for common genetic variants across the afflicted population groups in the world has emerged equivocal. Looking for genes and its variants which are proposed either by genome wide linkage or association studies with an assumed importance in the pathway biology of the disease does ...
Scientists have identified and created a map of more than 400,000 insertions and deletions (INDELs) in the human genome that signal a little-explored type of genetic difference among individuals. INDELS are an alternative form of natural genetic variation that differs from the much-studied single nucleotide polymorphisms (SNPs). Both types of variation are likely to have a major impact on human health and susceptibility to disease.
abstract = {Understanding the relationship between genetic variation and gene expression is a central question in genetics. With the availability of data from high-throughput technologies such as ChIP-Chip, expression, and genotyping arrays, we can begin to not only identify associations but to understand how genetic variations perturb the underlying transcription regulatory networks to induce differential gene expression. In this study, we describe a simple model of transcription regulation where the expression of a gene is completely characterized by two properties: the concentrations and promoter affinities of active transcription factors. We devise a method that extends Network Component Analysis (NCA) to determine how genetic variations in the form of single nucleotide polymorphisms (SNPs) perturb these two properties. Applying our method to a segregating population of Saccharomyces cerevisiae, we found statistically significant examples of trans-acting SNPs located in regulatory hotspots ...
Click to launch & play an online audio visual presentation by Prof. Gholson Lyon on Human genetic variation and the genotype-phenotype problem 1, part of a collection of online lectures.
If genetics were simple and our understanding of it were complete, companies could provide accurate reports that say "based on your genotype, your age and personal history, you have a 7.42% chance of developing ovarian cancer in the next 10 years". However, we are far, far, far away from this. We have an incomplete catalog of human genetic variation; known genetic variation can explain only a small fraction of the heritable component of most phenotypes of interest; we have a poor understanding of how different genetic variants interact to affect disease risk or other phenotypes; and we have essentially no capacity to incorporate environmental effects into predictive models. In many cases current, incomplete, data may point to someone having an elevated risk of some disease, when they really have a lower than average risk. And, to top it all off, there are very few cases where knowing your risk status or other phenotype points to genotype-specific actions (with the BRCA status referred to in the ...
The 2018 Gordon Research Seminar on Human Genetic Variation and Disease (GRS) will be held in Biddeford, ME. Apply today to reserve your spot.
Definition of non-additive genetic variance in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is non-additive genetic variance? Meaning of non-additive genetic variance as a legal term. What does non-additive genetic variance mean in law?
Levels of divergence with respect to M. caroli were consistently ∼3% (Table 2), similar to previous observations (She et al. 1990). Average divergence between M. musculus or M. domesticus and M. spretus (∼1%) was also consistent with previous estimates (Nachman 1997). The average pairwise divergence (k) between alleles from M. musculus and alleles from M. domesticus was 0.43%. We can use this value to estimate the time of separation of these species. Under a neutral model, k = 2μt + 3Neμ for X-linked loci, where μ is the neutral mutation rate, t is the species divergence time in generations, and Ne is the effective population size of the ancestral population. We can estimate the ancestral value of 3Neμ as the average of current nucleotide diversity in M. musculus and M. domesticus [π = 3Neμ = (0.0003 + 0.0007)/2 = 0.0005]. Assuming a neutral mutation rate of 4 × 10−9 (Waterston et al. 2002), this leads to an estimate of t = (k − 3Neμ)/2μ = (0.0043 − 0.0005)/(8 × 10−9) = ...
The role of host genetic variation in determining susceptibility to complex disease traits is the subject of much research effort, but it often remains unclear whether disease-associated genetic polymorphisms are themselves functionally relevant or acting only as markers within an extended haplotype. Experimental approaches to investigate the functional impact of polymorphisms in non-coding regulatory DNA sequences for gene expression are discussed, including the role of gel-shift assays, DNA footprinting and reporter gene analysis. The limitations of different experimental approaches are presented together with future prospects for in vivo analysis. The strategic application of these functional approaches is discussed and illustrated by analysis of the role of genetic variation in the tumour necrosis factor promoter region in determining susceptibility to severe malaria.. ...
Recurrence relations are derived for the natural selection of a selective coefficient that is subject to additive genetic variations. Mathematical models are set up of the natural selection of the selective coefficient of the heterozygote. A general computer model of genetical populations is described and populations are set up to simulate genetic variation of the heterozygote. The theoretical models are applied to the spread of a gene under natural selection. If the heterozygote is initially intermediate between the two homozygotes, the evolution of semi-dominance, dominance or over-dominance depends on the genetic variance in fitness. Over-dominance evolves if the standard deviation in fitness due to genetic causes is about 0.7 times the difference between the initial heterozygote and homozygote fitnesses. The heterozygote will then continue to increase in fitness until the characters that determine the fitness are at their optimum values. Thus the polymorphism tends to become more stable. The ...
The recent revolution in genomic sequencing has created new opportunities for exploring the connection between genomic variation and biological traits. By sequencing multiple individual genomes within a species, it is possible to identify genomic regions of divergence between groups of individuals sharing particular phenotypic traits. Such a strategy have in the literature been successfully applied for studies of parallel evolution, but none of these earlier studies have made the underlying methodology or tools readily accessible. It is therefore difficult to reproduce their. results or to reuse the methodology for new investigations.. I here present an open tool for doing such analyses between two groups of genomic sequences. One method calculates a cluster separation. score based on a two-dimensional scaling of the pairwise differences between individuals of the population. The other method uses the Fishers exact test score for each single-nucleotide polymorphism found. The tools reproduce ...
Our lab is focused on understanding the role of genetic variation on disease outcomes. We employ quantitative and functional tools, in a variety of model organisms, to study how genetic variation impacts basic cellular traits important to human health. Our work in model organisms will help to model and inform studies of genetic variation in the human population. We hope to identify variation in the human population that can lead to more precise, personalized therapies. The response to endoplasmic reticulum (ER) stress is a basic cellular pathway and is an important component to a variety of diseases. The ER is a large organelle responsible for the synthesis, maturation, and delivery of proteins essential for cellular function. ER stress occurs when misfolded proteins accumulate in the ER lumen and if left unresolved, results in cell death. The cell responds to ER stress with the conserved "unfolded protein response" (UPR). The UPR returns the ER to homeostasis by attenuating protein synthesis, ...
A genetic variation is a change in the nucleotide sequence of a gene, and when it occurs, it affects that genes capability of producing proteins it codes for. Genetic testing, therefore, analyzes the changes in chromosomes, genes, proteins, or their metabolites. When doing a personal DNA analysis, we analyze more than 100 sites (loci) of your DNA. At a specific site of your DNA, nucleotide C can be replaced by T. Because we have two copies of each gene, the genetic variation can occur in one copy, both of them, or none at all. This type of variation, at a specific DNA site, is called the genotype. Therefore, we have three possible genotypes: CC, CT or TT, and they are one of the most important factors which make people different!. There are many home DNA tests on the market, but not all of them are worth their money. You have to make sure that their promises and results are backed with real science, certified methods and labs, and ironclad security. While there is no direct danger to you, ...
New genome sequencing technologies are releasing a flood of sequence variants in which disease-causing mutations must be distinguished from neutral variants. This distinction is critical to identifyi…
Comprising 50%-75% of the worlds fauna, insects are a prominent part of biodiversity in communities and ecosystems globally. Biodiversity across all levels of biological classifications is fundamentally based on genetic diversity. However, the integration of genomics and phylogenetics into conservation management may not be as rapid as climate change. The genetics of hybrid introgression as a source of novel variation for ecological divergence and evolutionary speciation (and resilience) may generate adaptive potential and diversity fast enough to respond to locally-altered environmental conditions. Major plant and herbivore hybrid zones with associated communities deserve conservation consideration. This review addresses functional genetics across multi-trophic-level interactions including
A common genetic variation may be more significant than obesityas an indicator that a person is at risk of developing type 2 diabetes, according to a team of UK researchers. The team found that people with two copies of the mutant TCF7L2 gene were twice as likely to develop type 2 diabetes as people with no copies. The researchers tracked the cases of 2,676 European middle-aged men who have been evaluated over a period …
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Author Summary Viral loads of Human Immunodeficiency Virus infections are correlated between the donor and the recipient of the transmission pair. Similarly, human genetic factors may modulate viral load. In this study we estimate the extents to which viral load is heritable either via the viral genotype (from donor to recipient) or via the hosts Human Leukocyte Antigen (HLA) genotype. We find that a major fraction of inter individual variability is explained by the similarity of the viral genotypes, and that human genetic variation in the HLA region provide little additional explanatory power.
We evaluated the fraction of variation in HIV-1 set point viral load attributable to viral or human genetic factors by using joint host/pathogen genetic data from 541 HIV infected individuals. We show that viral genetic diversity explains 29% of the variation in viral load while host factors explain 8.4%. Using a joint model including both host and viral effects, we estimate a total of 30% heritability, indicating that most of the host effects are reflected in viral sequence variation.. ...
This article reviews the arguments in the separate schools debate in an attempt to present a view of the matter which would be acceptable in a liberal democracy. Although the case ...
Major depression is a serious psychiatric disorder impacting the lives of millions of Americans. The gene DISC1 has been linked to this disorder by translocatio...
In a massive study on genetic variation among humans, researchers found that most changes occurred in the last 200 generations, too fast for natural selection to catch up. Recent papers show that rare genetic variations have a more drastic effect than previously believed. Another result shows that ...
Traditional PCR methods can be used for viral diagnosis, however they are required to be highly sensitivity, specific and reproducible for this use. These criteria are largely dependent on the complementarity of the target nucleic acid to the primers and probe used in the PCR reaction. The primers and probe are designed to bind to a highly conserved genomic region and maximise the match. The presence of a mismatch reduces the amplification efficiency and sensitivity. Unfortunately, viruses have high genetic variability which makes it substantially more challenging to locate regions that are conserved in all subtypes of a particular virus.. A recent paper, published in Scientific Reports, investigated the development of a simpler qPCR method that is able to tolerate the presence of mismatches. The authors describe a method that is mediated by a high-fidelity DNA polymerase and uses a primer and a fluorescent primer (called a HFman probe).. ...
Frequency variation in a resonant zero voltage switching (ZVS) power converter is combined with supplemental duty cycle modulation to obtain voltage regulation and to narrow the required frequency band needed for regulation of a given output load. These two regulation processes are applied simultaneously to the power switch control in order to accommodate a wider range of regulated load. Hence in the alternative, for a given load range a smaller frequency range is needed than would be the case if frequency variation alone is used. The regulation control circuit includes both a duty cycle modulator and a frequency modulator each being responsive to an error signal responsive to a differential between an output voltage of the converter and a reference voltage. Each individual modulator has its own transfer function; one transfer function being kHz/volt the other transfer function being % duty cycle/volt. The regulation control circuit output is a rectangular pulse type signal that contains both elements
Vanadium(iv) complexes have recently shown record quantum spin coherence times that in several circumstances are limited by spin-lattice relaxation. The role of the environment and vibronic properties in the low temperature dynamics is here investigated by a comparative study of the magnetization dynamics as Molecular Spintronics : The role of Coordination Chemistry
For whole genome sequencing data, SNPs dominate, but there is typically an appreciable number of insertion (Ins) and deletion (Del) mutations, as well as Other variant types. These other variants include anything that doesnt fall into the previous categories. For example, consider the case where the reference sequence is ACTG, and sometimes the A is mutated into a C, but whenever it is, the T is always deleted. Rather than these two mutations appearing separately in the VCF file, since they are only ever observed together, the reference will be ACTG, and the alternate will be CCG (the A mutated to C, and the T deleted). This mutation is a combination of a SNP and a deletion, and is listed as a complex variant type and will appear in the Other category ...
For whole genome sequencing data, SNPs dominate, but there is typically an appreciable number of insertion (Ins) and deletion (Del) mutations, as well as Other variant types. These other variants include anything that doesnt fall into the previous categories. For example, consider the case where the reference sequence is ACTG, and sometimes the A is mutated into a C, but whenever it is, the T is always deleted. Rather than these two mutations appearing separately in the VCF file, since they are only ever observed together, the reference will be ACTG, and the alternate will be CCG (the A mutated to C, and the T deleted). This mutation is a combination of a SNP and a deletion, and is listed as a complex variant type and will appear in the Other category ...
Natural selection weeds out highly deleterious mutations from a population. Thus, the genetic changes with the biggest impact on disease risk tend to occur infrequently. GWAS chips only capture SNPs found in at least a few percent of the population and thus miss rare variants-precisely those that may offer the most exciting biological insights. Some scientists even believe that these neglected rare variants explain much of the "missing heritability" of complex diseases.. "Its not clear how much of the inter-individual variability in risk for disease is driven by rare variation," Cox says. "But when we can find that variation-really rare stuff with big effects-it often gives us a disproportionate understanding of the biology.". To find rare variants, scientists must compare entire gene sequences between cases and controls. In the past, this has meant looking at only a handful of genes at once. But with the advent of next-generation sequencing, scientists are beginning to look for rare variants ...
With the expanding use of next-gen sequencing (NGS) to diagnose the thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual DNA variation. To calculate the significance of finding a rare protein-altering variant in a given gene, one must know the frequency of seeing a variant in the general population that is at least as damaging as the variant in question. We developed a general method to better interpret the likelihood that a rare variant is disease causing if observed in a given gene or genic region mapping to a described protein domain, using genome-wide information from a large control sample. Based on data from 2504 individuals in the 1000 Genomes Project dataset, we calculated the number of individuals who have a rare variant in a given gene for numerous filtering threshold scenarios, which may be used for calculating the significance of an observed rare variant being causal for disease. Additionally, we calculated mutational burden data on the number of
How is it best to measure, describe and quantify differences between individual DNA sequences? How does sequence variation affect biological processes? How can we use it to understand and influence human disease? All these questions pose complex analytical challenges, with direct impact on medical research.. Human genetics is as ancient as human history. Its computational foundations are intertwined with the most fundamental developments in statistics. Such quantifications reveal the tremendous degree to which medical traits are heritable, and motivate a large research community to investigate the interconnections between gene variants (genotypes) and observed traits (phenotypes). The third millennium finds genetics more flourishing than ever with high throughput technologies generating large scale data sets, yet with more need than ever of computational innovation and methods to process these data into meaningful biomedical insights. The upcoming era, of complete genotype information available ...
1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.. 2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8. ...
Health,...Findings should lead to deeper understanding of the disease experts s...MONDAY March 30 (HealthDay News) -- U.S. researchers say theyve spo...The same team also confirmed previously identified associations betwee...The newly identified genetic variations are located on chromosomes 1 a...,Scientists,Identify,More,Breast,Cancer,Genes,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.. 2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8. ...
Genotypes are discrete, phenotypes often arent. A genetic variant typically has several genotypes. The example variant from the previous paragraph with the two alleles G and T will, in a diploid organism like humans, have three genotypes: G/G, G/T and T/T. It may therefore be tempting to assume that genetic variants are great biomarkers, as they will unambiguously show if the trait associated with the variant is present or not, maybe with heterozygotes being something in between. Unfortunately, this is often not the case, especially for complex diseases that have many variants associated with them. Each of these variants contributes to disease risk only a little bit, and as a result, individual variants arent very informative. ...
-We are using the single genome sequencing (SGS) technology we developed previously to analyze and understand the accumulation of genetic variation in gag/pol a...
Interplay between HIV-1 and Host Genetic Variation: A Snapshot into Its Impact on AIDS and Therapy Response. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Some people with a genetic variation in the CCR5 receptors of their immune cells are resistant to HIV, but a theory that the mutation was caused 800 years ...
Genetic variation in healthy oldest-old. PLoS One. 2009; 4(8):e6641. Halaschek-Wiener J, Amirabbasi-Beik M, Monfared N, Pieczyk M, Sailer C, Kollar A, Thomas R, Agalaridis G, Yamada S, Oliveira L, Collins JA, Meneilly G, Marra MA, Madden KM, Le ND, Connors JM, Brooks-Wilson AR.
At the National Cancer Institute (NCI), scientists have generated a data set of cancer-specific genetic variations and are making these data available to the research community.
Variobox 1.4.6 :: DESCRIPTION Variobox is a desktop tool for the annotation, analysis and comparison of human genes. Variant annotation data are obtained from WAVe, protein metadata annotations are gathered from PDB
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Double helix: The DNA looks like a long twisted ladder. The sides of the ladders are composed of phosphates and sugars. Base pairs: The rungs of the ladder are composed of four bases in pairs that specify genetic instructions - adesine (A), thymine (T), guanine (G) and cytosine (C). A always pairs with T, and G always pairs with C.. Locus: The location of a particular gene or DNA sequence on a chromosome.. Allele: the alternative form of a gene or DNA sequence that occurs at a given locus. Some loci have only one allele, some have two, and some have many alternative forms. Alleles occur in pairs, one on each chromosome.. For a more in-depth explanation of genetics and patterns of human variation, read Human Genetic Variation: The Mechanisms and Results of Microevolution by geneticist Jeffrey C. Long.. ...
Histogram representation of your phenotype Unfortunately your phenotype was not significantly associated with genetic variation present in the C. elegans population. This could be due to noisy trait data - have you performed heritability analysis for your phenotype using our heritability strain panel? If you have and the heritability was found to be high for this trait, the trait might not have reached statistical significance because it is highly complex and more strains need to be phenotyped.. If you have phenotyped the entire 152 wild-isolate collection, you can patiently wait for more isolates to be added to the collection, or generate an F2 recombinant inbred line (RIL) panel generated between strains with high and low phenotypes.. ...
For this graph, the authors have isolated all exons of the human genome and conceptually centered them at the X-axis midline. Then across the local region, (X-axis in centimorgans, a unit of genetic distance), they graph on the Y-axis the diversity of the populations they have sampled. This tends to be lower in highly conserved areas like exons and higher in outlying areas. This diversity is normalized to (divided by) the difference between the canonical human genome and the sequence of rhesus monkey, which should in principle cancel out the variations due to conservation of protein-coding genes and other typically conserved elements. Note that the diversity of the African population samples (green) is substantially higher than that of the European (orange) or Asian (purple) population samples. The authors argue that the central troughs are signs of specific directional selection that has affected the human linage differentially from the normal maintenance or purifying selection that would have ...
Ghorepani Poonhill trekking is a short & beautiful trek in the stunning Annapurna Region. The trek explores cultural and natural diversity of the region.
The diversity of all organisms (microbes, algae, fungi, protists, plants and animals) is analysed by family from the Ediacaran (V) onwards. Maximum estimates are shown in lighter colours, minima in darker. Recolonisation of the seas climaxed in the Ordovician, after which the number of new families appearing was counterbalanced by the number of extinctions. Following the crisis at the end of the Permian diversity increased again sharply towards present-day levels. Recolonisation of the land lagged behind that of the seas and first climaxed in the Carboniferous, after which it leveled off and stayed roughly constant until the Jurassic. The Cretaceous (K) saw the rise of flowering plants, followed by steep increases in the diversity of insects and mammals.. The increasing steepness of the curve from the Mesozoic onwards is an artefact of the slow-down in radioisotope decay, which causes later periods to appear shorter proportionally than they actually were.. ...
If you look at human beings, its immediately obvious that theres lots of variation. Much of that variation is accompanied by contributing genetic variation - on average, your DNA sequence differs from another persons by about 0.1 percent (about 6 million letters of DNA).. Where did all this variation come from? From mutation, broadly construed. Whenever cells divide, copying errors can occur - from single-letter swaps, deletions, or insertions, to duplications of entire genes (or entire genomes - all the DNA!). Bits of DNA can be chopped out and moved around; in addition, viruses can insert their DNA sequences and sometimes these can stay put, like genetic squatters. All of these sorts of changes have been observed in the lab, and if any of them end up in sperm or egg cells, the resulting mutations are passed on to the next generation. A recent estimate for the single-letter mutations in humans suggests that you inherited about 30 of them from each of your parents! (That doesnt include many ...
A genetic variation could account for 11 percent of the caseload of H.I.V. in Africa, explaining why the disease is more common there than expected, researchers say.
Less appreciated, I think, is the role that inexpensive sequencing will play in basic biology. Today genomics is expensive and concentrated on disease endpoints, which are necessary to motivate the high price tags of these studies. As full representation of human genetic variation gets less expensive, these studies can move back into the study of human biology. We humans are different from one another not only in the diseases that we suffer, but in myriad other details, small and large. Many of those are the result of genetic differences that remain unknown and almost unstudied. It is finally time to study all the normal variation that enriches the human world and experience-memory, behavior and personality. In short, economical sequencing of human genomes will help us to understand who we are and how we got that way ...
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The hybridisation-based SureSeq Solid Tumour Panel minimises PCR bias and duplications commonly associated with alternative enrichment methodologies, enabling greater run-to-run consistency. This is particularly important in situations where there is limited sample or where the ability to detect minor allele frequencies is required, such as in heterogeneous tumour samples. Such sample types require a highly uniform and sensitive enrichment and OGTs expert bait design ensures this by providing efficient and improved uniformity of coverage of the targeted regions, enabling all variants to be called with maximum confidence.. Providing easy access to meaningful data, the SureSeq Solid Tumour Panel comes with OGTs unique Variant Analysis Report, equipping researchers with the freedom to explore and retrospectively interrogate data with additional or new selection criteria, without the need for additional in-house bioinformatics resource. Using the report, data can be easily filtered by numerous ...
11.11% - Im in the process of joining. COMMENTS. - Because my degree is in Psychology with only a minor in architecture, AIA would NOT accept me in their organization. However, Im an Associate Partner in a prestigious International Architectural Firm and enjoying my 36th year with this firm. I attend every AIA COTE event I can. One day the segregationist little boys club mentality will end, but most likely not within my life time. The world and major inflexible organizations need to address a more holistic acceptance approach to human diversity. I hope sooner, than later.. ...
As one might expect, the piece that I co-authored with Brian Boutwell, Heritability and why Parents (but not Parenting) Matter, has stirred up some irritation and even anger. Part of this is simply due to the mildly hyperbolic nature of the title. Obviously on some level parents matter a great deal. What we were attempting to get at though is that most parents have far less precise control of the outcomes of their children than they think they do (you do have great control if you beat or starve your children though!). The lack of control is one reason siblings vary so much.. To make it concrete, imagine across the population variation of personality is 30% heritable, 15% accounted for by shared environment, and 55% explained by non-shared environment. The parental effect is captured in the shared environment. When behavior geneticists downplay the role of parents in affecting outcomes, they are doing so because of this value. In this example the proportion explained by the parents genetic ...
Researchers find that individuals who inherit a certain gene variant are more likely to develop severe flu symptoms and complications.
We have used artificial selection to generate replicate large and small egg lines. Using in situ hybridization, we triple stained these embryos for mRNA of giant (gt), and even-skipped (eve), with Sytox green as a nuclear stain. We used some innovative software called PointCloudToolbox (http://bdtnp.lbl.gov/Fly-Net/bioimaging.jsp?w=software) to compare the eve stripe patterns between the divergently selected lines, as well as number of nuclei at the periphery for mitotic cycle 14 embryos. We found that there is genetic variation for eve stripe allometry segregating in natural populations of D. melanogaster. The phenotypic difference in stripe positioning between the selected lines is neither a spatially restricted shift, nor a coordinate shift of all stripes, but a monotonically increasing (i.e., allometric) shift along both A-P and D-V axes (Figure). Genetic variation for this buffered trait was produced in the absence of environmental or genetic perturbation, and therefore must not be entirely ...
Explore genetic variations and their clinical significance. Search known variants by gene, phenotype or location; or upload and compare your own data.
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro ...
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro ...
A gene variation (rs4143094) that exists in one third of the population has been found to significantly increase the risk of developing colorectal cancer for t…
Based on an extensive corpus study, this paper presents an overview of control patterns in Swedish infinitives and sketches a CxG account of the data. To capture the variety of control relations encountered, the approach combines elements of traditional CxG, Frame Semantics, and Sign-Based Construction Grammar. Three basic mechanisms are distinguished: control by selection, where the controlled element is coinstantiated with an argument of the selecting head; control by feature percolation, where the interpretation is determined by the syntactic and pragmatic context; and arbitrary control, which is treated as non-control, where the understood subject argument is specified for generic or arbitrary reference and, hence, needs no controller. More specific control patterns, including such issues as control shift and pragmatic control, are treated as specific variants of these three basic types.... more ...
Men who die early from heart disease are more likely to have a specific variant of a blood clotting gene. Researchers in Finland carried out tests
Mutation rates in humans are of course much slower than that in a flu virus. But just like a flu virus, there are also fast and slow changing sites (Figure 2). The time scales are different but the principle is the same. The fast changing sites may turn over every few thousand years and in fact make up the majority of the observed variant sites in humans when properly examined by us (Figure 3). This is why the field of ancient DNA kept producing the absurd pattern of no genetic continuity between people living in the same area but from different periods of time. All of the published analyses have simply used the wrong sites that are equivalent to the fast changing antigenic sites in a flu virus. What one should be using are sites with very slow mutation rates, like 1 mutation every 50,000 years. We have been busy reinterpreting the published DNAs for several years now and hope to submit our work soon ...
The correlation between genetic diversity, represented by the expected heterozygosity He, and lifetime expectancy LTE was robust to the estimation errors existi
In chapter 3, "The Sense of Sensibility," author Wendy Jones uses scenes from one of Jane Austens most celebrated novels to illustrate the functioning of the bodys stress response system.. 0 Comments. ...
The Euro-WABB Project is a collaboration of doctors, scientists and patient support groups in Europe. Spreading knowledge on rare diabetes, improving lives and developing research.
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes: 1471-2350-6-36.fm ral ss BioMed CentBMC Medical
Researchers have found a common genetic variation that may explain why some pregnant women find it so hard to quit smoking. When pregnant women smoke, they
TY - JOUR. T1 - RNA-seq analysis reveals considerable genetic diversity and provides genetic markers saturating all chromosomes in the diploid wild wheat relative Aegilops umbellulata. AU - Okada, Moeko. AU - Yoshida, Kentaro. AU - Nishijima, Ryo. AU - Michikawa, Asami. AU - Motoi, Yuka. AU - Sato, Kazuhiro. AU - Takumi, Shigeo. PY - 2018/11/8. Y1 - 2018/11/8. N2 - Background: Aegilops umbellulata Zhuk. (2n=14), a wild diploid wheat relative, has been the source of trait improvement in wheat breeding. Intraspecific genetic variation of Ae. umbellulata, however, has not been well studied and the genomic information in this species is limited. Results: To develop novel genetic markers distributed over all chromosomes of Ae. umbellulata and to evaluate its genetic diversity, we performed RNA sequencing of 12 representative accessions and reconstructed transcripts by de novo assembly of reads for each accession. A large number of single nucleotide polymorphisms (SNPs) and insertions/deletions ...
TY - JOUR. T1 - Intracolonial genetic variation affects reproductive skew and colony productivity during colony foundation in a parthenogenetic termite. AU - Miyazaki, Satoshi. AU - Yoshimura, Miho. AU - Saiki, Ryota. AU - Hayashi, Yoshinobu. AU - Kitade, Osamu. AU - Tsuji, Kazuki. AU - Maekawa, Kiyoto. PY - 2014/1/1. Y1 - 2014/1/1. N2 - Background: In insect societies, intracolonial genetic variation is predicted to affect both colony efficiency and reproductive skew. However, because the effects of genetic variation on these two colony characteristics have been tested independently, it remains unclear whether they are affected by genetic variation independently or in a related manner. Here we test the effect of genetic variation on colony efficiency and reproductive skew in a rhinotermitid termite, Reticulitermes speratus, a species in which female-female pairs can facultatively found colonies. We established colonies using two types of female-female pairs: colonies founded by sisters (i.e., ...
Genetic differentiation in phenotypic traits among populations from heterogeneous environments is often observed in common-garden studies on forest trees, but data on adaptive variation in Scots pine (Pinus sylvestris L.) in Scotland are limited. As a result, current seed transfer guidelines are based on earlier molecular marker studies and do not take into account environmental or adaptive genetic variation. An analysis of spatial variation in climate showed substantial differences in temperature and precipitation among the native Scots pine sites in Scotland. To investigate whether differentiation in response to environmental variation has occurred in Scotland, a glasshouse-based common-garden trial of ~3,360 seedlings from 21 populations and 84 open-pollinated families was established in 2007. At the beginning of the 2nd growing season, timing of bud flush showed evidence of genetic differentiation among populations, with those from cooler origins generally flushing earlier. Variation was ...
Genetic variation at 9 autosomal microsatellite loci (CFS1R, TH01, PLA2A, F13A1, CYP19, LPL, D20S481, D20S473, and D20S604) has been characterized in 16 Asian and Oceanic populations, mostly from mainland and insular Southeast Asia. The neighbor-joining tree and the principal coordinates analysis of the genetic relationships of these populations show a clear separation of Papua New Guinea Highlanders and, to a lesser extent, Malayan aborigines (Orang Asli or Semai) from the rest of the populations. Although the number of markers used in this study appears to be inadequate for clarifying the patterns of genetic relationships among the studied populations, in the principal coordinates analysis a geographic trend is observed in the mainland and insular Southeast Asian populations. Furthermore, in an attempt to contrast the extent of variation between autosomal and Y-chromosome-specific microsatellite loci and to reveal potential differences in the patterns of male and female migrations, we have also
Conclusions: At small spatial scales, where extirpation risks are high, landscape fragmentation will likely have long-term negative consequences on the genetic variation of individual assemblages of coastal cutthroat trout. Thresholds/Learnings: Synopsis: This study aimed to determine if coastal cutthroat trout were genetically structured within streams and to assess the effects of habitat fragmentation on coastal cutthroat trout genetic variation. Habitat fragmented by roads and other human disturbances acted as dispersal barriers, which strongly influenced coastal cutthroat trout genetic structure, diversity, and differentiation. At range-wide spatial scales, fragmentation potentially contributes to coastal cutthroat trout genetic diversity, and it is not recommended that natural barriers be modified for fish passage. However, at small spatial scales, where extirpation risks are high, fragmentation will likely have long-term negative consequences on the genetic variation of individual assemblages of
TY - JOUR. T1 - Population differentiation as an indicator of recent positive selection in humans. T2 - An empirical evaluation. AU - Xue, Yali. AU - Zhang, Xuelong. AU - Huang, Ni. AU - Daly, Allan. AU - Gillson, Christopher J.. AU - MacArthur, Daniel G.. AU - Yngvadottir, Bryndis. AU - Nica, Alexandra C.. AU - Woodwark, Cara. AU - Chen, Yuan. AU - Conrad, Donald F.. AU - Ayub, Qasim. AU - Mehdi, S. Qasim. AU - Li, Pu. AU - Tyler-Smith, Chris. PY - 2009/11. Y1 - 2009/11. N2 - We have evaluated the extent to which SNPs identified by genomewide surveys as showing unusually high levels of population differentiation in humans have experienced recent positive selection, starting from a set of 32 nonsynonymous SNPs in 27 genes highlighted by the HapMap1 project. These SNPs were genotyped again in the HapMap samples and in the Human Genome Diversity Project-Centre dEtude du Polymorphisme Humain (HGDP-CEPH) panel of 52 populations representing worldwide diversity; extended haplotype homozygosity was ...
In the latter, male movements were restricted, and some birds seemed to skip breeding in their first year, suggesting habitat saturation. Breeding dispersal was limited in both populations, with males being more philopatric than females. Spatial genetic autocorrelation analyzes using 13 polymorphic microsatellite loci confirmed the observed dispersal patterns: a fine-scale genetic structure was only detectable for males in Fray Jorge for distances up to 450 m. Furthermore, two-dimensional autocorrelation analyzes and estimates of genetic relatedness indicated that related males tended to be spatially clustered in this population. Our study shows evidence for context-dependent variation in natal dispersal and corresponding local genetic structure in peripheral populations of this bird. It seems likely that the costs of dispersal are higher in the fragmented and higher density environment in Fray Jorge, particularly for males. The observed differences in microgeographic genetic structure for ...
Aims: The genetic diversity of Beauveria bassiana was investigated by comparing isolates of this species to each other (49 from different geographical regions of Brazil and 4 from USA) and to other Beauveria spp. Methods and Results: The isolates were examined by multilocus enzyme electrophoresis (MLEE), amplified fragment length polymorphism (AFLP), and rDNA sequencing. MLEE and AFLP revealed considerable genetic variability among B. bassiana isolates. Several isolates from South and Southeast Brazil had high similarity coefficients, providing evidence of at least one population with clonal structure. There were clear genomic differences between most Brazilian and USA B. bassiana isolates. A Mantel test using data generated by AFLP provided evidence that greater geographical distances were associated with higher genetic distances. AFLP and rDNA sequencing demonstrated notable genotypic variation between B. bassiana and other Beauveria spp. Conclusion: Geographical distance between populations
Aim of this thesis is the study of biogeography and ecology, genetic population structure, and molecular phylogeny of fishes on coral reefs in the Gulf of Aqaba and northern Red Sea. Ecological and genetic pattern are compared on different spatial scales and molecular markers add a temporal scale to study of evolutionary processes.Biogeographic analysis supported the differentiation of the Arabian sub-province from the Indian Ocean, but the affiliation of the Arabian Gulf is not clear.The analy
"A functional genetic variation of the serotonin (5-HT) transporter affects 5-HT1A receptor binding in humans". The Journal of ...
2007: Human genetic variation. *2008: Cellular reprogramming. *2009: Ardipithecus ramidus. *2010: First quantum machine ... "Genetic Engineering & Biotechnology News. Mary Ann Liebert, Inc. p. 13. Retrieved 2008-07-06. (subtitle) Procymal is being ... Using genetic reprogramming with protein transcription factors, pluripotent stem cells with ESC-like capabilities have been ... Without optimal culture conditions or genetic manipulation,[18] embryonic stem cells will rapidly differentiate. ...
2007: Human genetic variation. *2008: Cellular reprogramming. *2009: Ardipithecus ramidus. *2010: First quantum machine ... Some in the press speculated that a contributing factor to Dolly's death was that she could have been born with a genetic age ...
2007: Human genetic variation. *2008: Cellular reprogramming. *2009: Ardipithecus ramidus. *2010: First quantum machine ...
2007: Human genetic variation. *2008: Cellular reprogramming. *2009: Ardipithecus ramidus. *2010: First quantum machine ...
Weiner, Michael P; Gabriel, Stacey B; Stephens, J Claiborne (2007). Genetic Variation: a Laboratory Manual. Cold Spring Harbor ...
Advantages due to genetic variation[edit]. For the advantage due to genetic variation, there are three possible reasons this ... Protection from major genetic mutation[edit]. In contrast to the view that sex promotes genetic variation, Heng,[11] and ... Genetic heritability cost of sex[edit]. A sexually reproducing organism only passes on ~50% of its own genetic material to each ... August Weismann picked up the thread in 1889, arguing that sex served to generate genetic variation, as detailed in the ...
Barnes, Michael R. (2003). "Human Genetic Variation: Databases and Concepts". In Barnes, Michael R.; Gray, Ian C. ... A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the ... SNP-based genetic linkage analysis can be used to map disease loci, and determine disease susceptibility genes in individuals. ... The combination of SNP maps and high density SNP arrays allows SNPs to be used as markers for genetic diseases that have ...
"Model of Genetic Variation in Human Social Networks" (PDF). Proceedings of the National Academy of Sciences. 106 (6): 1720-1724 ... "Genetic Variation in Political Participation" (PDF). American Political Science Review. 102 (2): 233-248. CiteSeerX 10.1.1.165. ... More recently, he has shown evidence that social networks have a partly genetic basis.[28] In 2010, he published a paper ... the study of the genetic basis of political behavior). He is currently Professor of Medical Genetics in the School of Medicine ...
For continuous variation in biology, see Genetic variability. For other uses, see Distribution. ...
Honjo T, Habu S (1985). "Origin of immune diversity: genetic variation and selection". Annu Rev Biochem. 54 (1): 803-830. doi: ... Several complex genetic mechanisms have evolved that allow vertebrate B cells to generate a diverse pool of antibodies from a ... These gene segments are then joined together using random genetic recombination to produce the paratope. The regions where the ... Susumu Tonegawa showed that genetic material can rearrange itself to form the vast array of available antibodies.[107] ...
O. volvulus has low genetic variation between individuals. This suggests a population bottleneck occurred in the past that ... This pattern of low genetic variation and high haplotype diversity suggests fast population expansion after a bottleneck and ... This is also supported by genetic data that place O. ochengi (a cattle-infecting strain) as the sister group to O. volvulus.[20 ... "Ivermectin Resistance in Onchocerca volvulus: Toward a Genetic Basis". PLOS Neglected Tropical Diseases. 1 (1): e76. doi ...
Combined with archaic admixture this has resulted in significant genetic variation, which in some instances has been shown to ... Townsend G, Richards L, Hughes T (May 2003). "Molar intercuspal dimensions: genetic input to phenotypic variation". Journal of ... gradually converging into the modern human varieties by the mechanism of clinal variation, via genetic drift, gene flow and ... However, genetic evidence from the Sima de los Huesos fossils published in 2016 seems to suggest that H. heidelbergensis in its ...
"Genetic Variation and Population Structure in Native Americans". PLoS Genet. 3 (11): e185. doi:10.1371/journal.pgen.0030185. ... Observed is both a decreasing genetic diversity as geographic distance from the Bering Strait occurs and a decreasing genetic ... Wells, Spencer; Read, Mark (2002). The Journey of Man - A Genetic Odyssey (Digitised online by Google books). Random House. pp ... Main article: Genetic history of indigenous peoples of the Americas. See also: Y-DNA haplogroups in indigenous peoples of the ...
Genetic Variation and the Natural History of Quaking Aspen. BioScience 46, 1, 25-31. JSTOR ... High levels of genetic variation and excesses of heterozygotes are found in [the aspen of] semi-arid environments... Clonal ... DeWoody, J.; Rowe, C.A.; Hipkins, V.D.; Mock, K.E. (2008). ""Pando" Lives: Molecular Genetic Evidence of a Giant Aspen Clone in ... This collection of multiple stems, called ramets, all form one, single, genetic individual, usually termed a clone. ...
"Variation and genetic control of protein abundance in humans". Nature. 499 (7456): 79-82. Bibcode:2013Natur.499...79W. PMC ... In general, the genetic code specifies 20 standard amino acids; however, in certain organisms the genetic code can include ... The sequence of amino acid residues in a protein is defined by the sequence of a gene, which is encoded in the genetic code. ... The genetic code is a set of three-nucleotide sets called codons and each three-nucleotide combination designates an amino acid ...
"Genetic Variation and Population Structure of Castanea pumila var. ozarkensis". Journal of the American Society for ... to recover the American growth characteristics and genetic makeup, and then finally intercrossing the advanced backcross ... "Conservation - Genetic Research". www.charliechestnut.org. Retrieved January 12, 2016. *^ Galloway, Paul R. "My Chestnut Story ...
A model for tracing the history of genetic variation. Coalescent theory is a model of how gene variants sampled from a ... Neutral variation[edit]. Coalescent theory can also be used to model the amount of variation in DNA sequences expected from ... Population genetic influences could have a major influence on this variation: some loci presumably would have comparatively ... EvoMath 3: Genetic Drift and Coalescence, Briefly - overview, with probability equations for genetic drift, and simulation ...
Based on genetic variationEdit. Alcohol metabolism depends on the hormones alcohol dehydrogenase (ADH) and aldehyde ... People with a family history of alcoholism may exhibit genetic differences in the response of their NMDA glutamate receptors as ... The genetic variants of these enzymes can explain the differences in the alcohol metabolism in different races. The different ... "Molecular Genetic Analysis of Ethanol Intoxication in Drosophila Melanogaster". Integrative and Comparative Biology. 44 (4): ...
Genetic variation and cancer riskEdit. A study found that "the ADH1C*1 allele and genotype ADH1C*1/1 were significantly more ... April 2006). "Alcohol dehydrogenase 1C*1 allele is a genetic marker for alcohol-associated cancer in heavy drinkers". ... "Alcohol dehydrogenase 1C*1 allele is a genetic marker for alcohol-associated cancer in heavy drinkers". International Journal ...
Keller, A; Zhuang, H; Chi, Q; Vosshall, LB; Matsunami, H (2007-09-27). "Genetic variation in a human odorant receptor alters ... ISBN 0-7817-6003-8. Menashe, I; Abaffy, T; Hasin, Y; Goshen, S; Yahalom, V; Luetje, CW; Lancet, D (2007-10-30). "Genetic ... The causes of hyperosmia may be genetic, environmental or the result of benzodiazepine withdrawal syndrome. When odorants enter ... There has not yet been extensive research into the genetic background of those with general hyperosmia, rather than for just a ...
Boyd, R.; Richerson, P. (1983). "The cultural transmission of acquired variation: effects on genetic fitness". Journal of ... Conformist bias also helps maintain variation between groups. These two properties, rare in genetic transmission, are necessary ... in genetic evolution that it is not evolution. However, 1) even genetic evolution uses non-vertical transmission through the ... random variation, cultural drift, guided variation and transmission bias. Cultural differences among individuals can lead to ...
"Which evolutionary processes influence natural genetic variation for phenotypic traits?". Nature Reviews Genetics. Springer ... Genetic Drift in Phenotypic Evolution Using Quantitative Trait Locus Data". Genetics. 149 (4): 2099-2104. PMC 1460271. PMID ... These charts depict the different types of genetic selection. On each graph, the x-axis variable is the type of phenotypic ... However, this was not the case for the suspensorium or skull (suggesting genetic drift or stabilizing selection).[9] ...
Indian Genome Variation Consortium (2008). "Genetic Landscape of the People of India: A Canvas for Disease Gene Exploration" ( ... Campbell, Michael C.; Tishkoff, Sarah A. (2010-02-23). "The Evolution of Human Genetic and Phenotypic Variation in Africa". ... By analyzing genetic diversity in domesticated animal populations researchers can search for genetic markers in DNA to give ... Archaeogenetics is the study of ancient DNA using various molecular genetic methods and DNA resources. This form of genetic ...
That's genetic variation, which even bacteria aren't too bad at. :-) primates have that, I grant you. society is vital, but not ... genetic origins). For example, the first chapter of the Wrangham and Peterson book on the genetic origins of human violence, ... I do very much agree that our adaptation to the environment has moved from a genetic level to a cultural level. Look at some of ... The problem is that there are so many possibilites and variations. For example, the third category has a few subsets:. *"We are ...
Meiosis followed by self-pollination produces little overall genetic variation. This raises the question of how meiosis in self ... Genetic defects in self-pollinating plants cannot be eliminated by genetic recombination and offspring can only avoid ... Population genetic structure and outcrossing rate of Arabidopsis thaliana (L.) Heynh. Abbott RJ, Gomes MF. Heredity 1989 62:411 ... The disadvantages of self-pollination come from a lack of variation that allows no adaptation to the changing environment or ...
基因組圖譜主要可以分成兩種,一種是遺傳圖譜(genetic map),另一種則是物理圖譜(physical map)。遺傳圖譜是利用基因的重組率來做分析,單位是分莫甘(centimorgan)。這種圖譜表現出來的是基因或特定DNA片段之間的相對
Genetic variation, classification and 'race' - Lynn B Jorde,et al.. *Categorization of humans in biomedical research: genes, ... Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation - Mark D. Shriver,et al. ... Understanding Human DNA Sequence Variation - K. K. KIDD,et al.. *Assessing DNA Sequence Variations in Human ESTs in a ... This genetic distance map made in 2002 is an estimate of 18 world human groups by a neighbour-joining method based on 23 kinds ...
Nutrigenetics is concerned with the effects of individual genetic variation (single nucleotide polymorphisms) on response to ... concerning the acquisition of information about individual genetic variation; (3) questions about who has access to this ... to consider the surrounding context of other issues such as novel and functional foods in so far as they are related to genetic ...
Some differences between phonemic and genetic variation are also evident in Fig. 1 B-D. For example, the South American genetic ... The association between genetic variation and phonemic variation was largely explained by the geographic distribution of ... Worldwide human phonemic and genetic variation. Nicole Creanza, Merritt Ruhlen, Trevor J. Pemberton, Noah A. Rosenberg, Marcus ... Worldwide human phonemic and genetic variation. Nicole Creanza, Merritt Ruhlen, Trevor J. Pemberton, Noah A. Rosenberg, Marcus ...
Distribution of variation[edit]. Human genetic variation calculated from genetic data representing 346 microsatellite loci ... Structural variation[edit]. Main article: Structural variation. Structural variation is the variation in structure of an ... Measures of variation[edit]. Genetic variation among humans occurs on many scales, from gross alterations in the human ... Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene ...
AND FSTGEOGRAPHIC DISTANCE AND THE PATTERN OF GENETIC VARIATIONBIBLIOGRAPHY Source for information on Genetic Variation Among ... Genetic Variation Among PopulationsTHE APPORTIONMENT OF VARIATIONVARIATION AMONG POPULATIONS (FST)ESTIMATES OF FST FOR ... THE APPORTIONMENT OF VARIATION. One of the main interests in studies of genetic variation is the question of how variation is ... SEE ALSO Clines and Continuous Variation; Clines and Continuous Variation; Forensic Anthropology and Race; Gene Pool; Genetic ...
Genetic Mutations of the Year. A website highlights common genetic variations that made a splash in 2009. ... Handled with care, the new "HapMap" of genetic variation could reveal the genetic roots of many diseases. ... Common Genetic Variants Have Little Effect on Breast Cancer Prediction. The types of genetic factors identified in direct to ...
Adaptation from standing genetic variation.. Barrett RD1, Schluter D.. Author information. 1. Department of Zoology and ... Populations adapt to novel environments in two distinct ways: selection on pre-existing genetic variation and selection on new ... Compared with new mutations, adaptation from standing genetic variation is likely to lead to faster evolution, the fixation of ... Understanding how the source of genetic variation affects adaptation will be integral for predicting how populations will ...
Three primary sources of genetic variation: Mutations, Gene flow, Sex (genetic shuffling). ... Resource that describes how genetic variation drives some of the basic mechanisms of evolutionary change. ... Three primary sources of genetic variation: Mutations, Gene flow, Sex (genetic shuffling). ... Three primary sources of genetic variation: Mutations, Gene flow, Sex (genetic shuffling). ...
Networks of Spatial Genetic Variation.. The conditionally independent network of genetic variation can be represented ... The interpatch genetic variation (strength of links in Fig. 2 indicates genetic similarity) ranges from 25% for Q. coccifera to ... This variation creates a tremendous challenge for the prioritization of patches to conserve the genetic variation of ... The main steps for calculating the network of spatial genetic variation of a species are (i) calculating the genetic distance ...
85% of genetic variation is within groups…. Posted by Razib Khan on February 23, 2008 ... On a typical single locus (on some loci, such as SLC24A5, most of the variation is between groups). But that doesnt mean that ... So what? This is just collapsing variation due to successive bottlenecks. Thats hardly interesting in terms of the actual " ... From Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation. Also see Lewontins Fallacy. ...
A global reference for human genetic variation.. 1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, ... The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole- ... We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease ... We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide ...
... program will fund technology development and implementation grants that use new stem cell technologies to understand genetic ... and genomics to study human genomic variation and genetic links to disease. ... Highly Efficient Genome Editing Method Reveals Fitness of Genetic Variants in Yeast. ...
By mapping differences in transcription factor binding among individuals, here we present the genetic basis of such variation ... We showed that most transcription factor binding variation is cis-linked, and that many variations are associated with ... and the underlying genetic loci responsible for variation in its binding are mapped. The study reveals new insights into the ... Variation in the regulation of gene transcription between individuals is thought to be a major cause of phenotypic diversity. ...
This creates a continuum of variation. If this polygenic explanation... ... This creates a continuum of variation. If this polygenic explanation for the inheritance of human skin pigmentation is correct ... Related Threads for: Genetic variation question Evolution Homework - Genetic Variation *Last Post ...
First, this involves creating a systematic catalog of the full range of genetic variants (large and small, rare and common) ... Understanding the pattern of common genetic variation in the human population is a major focus of the program. ... Understanding the pattern of common genetic variation in the human population is a major focus of the program. First, this ... it becomes possible to undertake systematic studies of the genetic factors underlying inherited susceptibility to common ...
4D: Genetic Variation To view this video please enable JavaScript, and consider upgrading to a web browser that supports HTML5 ... Genome Project was to begin to catalog genetic differences among. us, because those would be the, important for genetic medi ... laying the foundation of genetic concepts and processes we will need to consider in some depth genetic research on ... with a deletion of genetic material, a disorder called Williams syndrome.. And before I talk about it next time, what Id like ...
Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam. *C. H ... C., H., Y., M., M.R., T., H., T., P., N., S., S., … W.S., K. (2013). Genetic variation in dopaminergic activity is associated ... the findings provide first evidence of an association of genetic variation in dopaminergic activity and the risk for ... To assess the genetic basis of the adverse psychotropic profile of LEV, a candidate gene-based two-stage association study was ...
Alcoholism, genetics, Body Mass Index, Family Health, Female, Genetic Predisposition to Disease, Genetic Variation, Genotype, ... Genetic variation of the ghrelin signaling system in females with severe alcohol dependence. Artikel i vetenskaplig tidskrift ... Known gender differences in plasma ghrelin levels prompted us to investigate genetic variation of the ghrelin signaling system ...
... 20.09.2007. Mark Twain boasted that it was easy to quit smoking because ... A new study being published in the September 15th issue of Biological Psychiatry reports that genetic variation in a particular ... Innovative genetic tests for children with developmental disorders and epilepsy 11.07.2018 , Christian-Albrechts-Universität zu ... when doctors are able to use genetic information about their patients to guide treatment. We are not ready to use this ...
My guesses here are that genetic drift and genetic flow are responsible for the different allele frequencies observed here. I ... mention these events because they both result in the reduction of genetic differences over a period of time (according to my ...
Genetic Variation. To view this video please enable JavaScript, and consider upgrading to a web browser that supports HTML5 ... function, as in human genetic diseases like sickle cell anaemia,. through marginal or neutral effects to functional ...
... depleting the genetic variation upon which it acts. Sexually antagonistic (SA) genetic variation-in which alternative alleles ... Here, we show that the SA genetic variation underlying fitness in a well-known seed beetle population exhibits these beneficial ... suggesting SA selection may commonly maintain heritable genetic variation for fitness throughout the genome. ... have opposite fitness effects in the sexes-can generate balancing selection that maintains genetic variation for fitness if the ...
... EurekAlert! ^ , October 3, 2018 , Stockholm University Posted ... The genetic variation within the Scythian nomad group is so broad that it must be explained with the group assimilating people ... Even though a couple of the groups had an early history somewhere else all the groups share genetic background and follow each ...
Genetic variation and random drift in autotetraploid populations. Message Subject (Your Name) has forwarded a page to you from ... Genetic variation and random drift in autotetraploid populations.. M E Moody, L D Mueller and D E Soltis ... Genetic variation and random drift in autotetraploid populations.. M E Moody, L D Mueller and D E Soltis ... Genetic variation and random drift in autotetraploid populations.. M E Moody, L D Mueller and D E Soltis ...
Rieseberg, L. H., Soltis, D. E., & Soltis, P. S. (1988). Genetic Variation in Helianthus annuus and H. bolanderi. Biochemical ... A transcriptomic approach was employed using a cDNA microarray of 9058 C. gigas clones to highlight the genetic expression ... This is the first study employing microarrays to characterize the genetic markers and metabolic pathways responding to hypoxic ...
Crossing over creates genetic variation by exchanging DNA between two nonsister chromatids to produce genetically unique ... Crossing over creates genetic variation by exchanging DNA between two nonsister chromatids to produce genetically unique ... These gametes contain 23 chromosomes, which is half of the genetic information of the parent. During fertilization, a zygote is ... The two ways wherein meiosis increases genetic diversity in a species are crossing over and independent assortment of ...
  • At present, the largest data set on human variation is being generated by the International HapMap Project [hapmap.ncbi.nlm.nih.gov], which is genotyping a few million single nucleotide polymorphisms on 270 individuals from four geographically separated sites from around the world. (genome.gov)
  • The variations in the progesterone receptor gene -- consisting of single nucleotide polymorphisms, or one-letter changes in the genetic code -- were found in regions of the gene that regulate when it is switched on and off. (eurekalert.org)
  • Newswise - Researchers from The Cancer Institute of New Jersey (CINJ) are converging on Washington, D.C., this week for the 101st Annual Meeting of the American Association for Cancer Research (AACR) to share their findings on how a common genetic variation can impact diagnosis of breast cancer in postmenopausal women. (newswise.com)
  • A common genetic variation may be more significant than obesity as an indicator that a person is at risk of developing type 2 diabetes, according to a team of UK researchers. (fiercebiotech.com)
  • According to the researchers, the fact that so much variation escaped notice in D. melanogaster - a species with relatively simple genomes less like to hide variation - suggests that our own genomes, and those of the species we eat, are harboring an even larger store of medically and agriculturally important genetic variation. (eurekalert.org)
  • Now, a new study carried out by researchers from Dr. CAI Shiqing's lab at the Institute of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology of the Chinese Academy of Sciences has uncovered a genetic basis for natural variation in aging rates. (eurekalert.org)
  • In order to explore this question, researchers from Dr. CAI Shiqing's lab studied the genetic origin of variability in the rate of aging using Caenorhabditis elegans as an animal model. (eurekalert.org)
  • The researchers found that genetic variations in a novel neuropeptide coding gene (rgba-1) and its receptor gene npr-28 regulate the aging rate of worm behavior among wild isolates. (eurekalert.org)
  • Australian researchers looking for a genetic lifeline to endangered hog deer species endemic to Pakistan, northern India and mainland southeast Asia have found widespread hybridization of the species in Victoria. (phys.org)
  • MacArthur and colleagues pooled exome data contributed by researchers from more than two dozen disease-specific projects, creating a list of more than 7.4 million genetic variants from 60,706 individuals-10-fold larger than any prior exome database. (the-scientist.com)
  • The researchers looked for similarities in genetic variations among thousands of people with each illness and compared them to controls, figuring out how much each pair of disorders is linked to the same genetic variants. (psychcentral.com)
  • Convinced that the presence of some genetic similarities confirm a common ancestry for these two kinds of snails, the researchers sought a transitional form and believe they found it in one genus of the Janthinidae family: the Recluzia. (answersingenesis.org)
  • Researchers at the University of Michigan and the Mayo Clinic say that the flagship breast cancer drug, tamoxifen might not be very effective in women who inherit a common genetic variation. (medindia.net)
  • Researchers are now finding particular genetic variations in some of these non-coding regulatory regions, called enhancers, determine whether or not proteins are expressed in specific cell types in the brain and may play a role in a person's risk of developing psychiatric or neurological conditions. (ucsd.edu)
  • Beyond identifying genetic risk variants, the researchers validated their findings using pluripotent human stem cells. (ucsd.edu)
  • Researchers say their findings will help inform future studies investigating genetic risk variants in many different neurological conditions. (ucsd.edu)
  • Researchers from Uppsala University and others have for the first time determined the full genetic consequences of intense inbreeding in a threatened species. (brightsurf.com)
  • Now, researchers from Seattle Children's Research Institute and Benaroya Research Institute at Virginia Mason have identified new clues as to how a common genetic change in a gene called PTPN22 may pre-dispose children and adults to develop auto-immune conditions including type 1 diabetes, rheumatoid arthritis and systemic lupus. (seattlechildrens.org)
  • UK researchers have identified a type of genetic variation which allows bowel cancer patients to live on average three months longer than those without the variant. (bionews.org.uk)
  • Our team of researchers represents a merger of people with genetic expertise and environmental epidemiologists, allowing us for the first time to answer questions about how genetic and environmental risk factors for autism interact. (enn.com)
  • Large-scale Structural variation (>1Kbp) can be either copy number variation (loss or gain), or chromosomal rearrangement (translocation, inversion, or Segmental acquired uniparental disomy). (wikipedia.org)
  • The team looked at copy-number variation -- deletions and duplications of repeated elements in the genome that lead to variation among individuals in the number of repeated elements -- as a general measure of genetic variation and five types of air pollution -- traffic-related air pollution, nitrogen oxides, two sizes of particulate matter, and ozone -- in a large set of individuals with autism and a well-matched set of typically developing controls. (enn.com)
  • Through our existing, long-term collaborations with geneticist Dr. Susan Slaugenhaupt, cardiologist Dr. David Milan and echocardiographer Dr. Robert Levine at Mass General Hospital, genetic analyses of this family were performed,' says Norris. (news-medical.net)
  • For medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in people from specific geographic regions. (wikipedia.org)
  • NEW YORK (GenomeWeb News) - The National Heart, Lung, and Blood Institute plans to pump $76 million over the next five years into a program aimed at combining cellular tools, molecular profiling, and genomics to study human genomic variation and genetic links to disease. (genomeweb.com)
  • A new study being published in the September 15th issue of Biological Psychiatry reports that genetic variation in a particular enzyme affects the success rates of treatment with bupropion, an anti-smoking drug. (innovations-report.com)
  • In the future, reaction-norm approaches may become very important, as they allow the study of genetic and environmental effects on phenotypic expression within a single framework, as well as of their interactions. (springer.com)
  • A case study of the cheetah, which has famously low genetic variation, suggests the sorts of dangers that are possible. (berkeley.edu)
  • Multiple genetic variations that should help with future efforts to treat pulmonary fibrosis was discovered by a newly published study. (medindia.net)
  • This new study found evidence that common genetic variation is an important contributor to the risk of developing IPF, accounting for approximately one-third of the risk of developing disease. (medindia.net)
  • Looking at the genomes of more than 1,500 patients with idiopathic pulmonary fibrosis, a rare and devastating lung disease, a new study found multiple genetic associations with the disease. (medindia.net)
  • This study reveals the first genetic pathway underlying natural variation in the rate of aging, and uncovers the important role of neuropeptide-mediated glia-neuron signaling in controlling the aging rate. (eurekalert.org)
  • Five major mental illnesses - depression , bipolar disorder, ADHD , schizophrenia and autism - are traceable to the same inherited genetic variations, according to the largest genome-wide study of its kind. (psychcentral.com)
  • Since our study only looked at common gene variants, the total genetic overlap between the disorders is likely higher," said Naomi Wray, Ph.D., University of Queensland, Brisbane, Australia. (psychcentral.com)
  • The aim of this study was to assess the variation of X chromosome present in the Wichí population living around Misión Nueva Pompeya, in Chaco Province, and to identify particular variation of X-repetitive markers (short tandem repeats, X-STRs) in Chaco Amerindians. (jhu.edu)
  • A study identifies genetic variants that are linked to multiple phenotypes. (the-scientist.com)
  • This study is especially important in the field of genetic modifiers, because we had enough patients -- over 1,300 -- and a robust study design to assure that our observation is likely correct," Knowles said. (rxpgnews.com)
  • In the present study, we exploited the isogenic nature of inbred mice, in combination with a tractable mouse model of delayed reinforcement, to look for evidence of genetic effects on impulsivity. (jneurosci.org)
  • Patients who undergo genetic testing for inherited heart disease need to be better informed to know how to interpret the results and understand the impact the results will have on their life, a University of Sydney study has found. (brightsurf.com)
  • Based on the study, these abnormalities may help to explain how this genetic change promotes diabetes or other auto-immune conditions. (seattlechildrens.org)
  • The study examined which of 22 genetic regions - already linked to bowel cancer - were carried among over 2,000 advanced bowel cancer patients involved in the clinical study. (bionews.org.uk)
  • Genetic variation plays a large part in explaining why metformin is much better at lowering blood glucose in some people with diabetes than others, a UK study suggests. (gponline.com)
  • The study found one specific gene linked to variation in glycaemic response to metformin. (gponline.com)
  • The goal of this study is to better understand the molecular and genetic pathways underlying selenium as a chemopreventive agent for prostate cancer. (fredhutch.org)
  • In this latest research, blood samples from more than 1,000 women recruited through CINJ clinics were evaluated for the presence of genetic changes in the DNA sequence of the TSC1 gene. (newswise.com)
  • New technology now allows scientists to directly sequence DNA which has identified even more genetic variation than was previously detected by protein electrophoresis. (wikipedia.org)
  • Small-scale sequence variation ( (wikipedia.org)
  • Almost every living thing shares an identical genetic code, with three nucleic acids in an RNA sequence coding for a single amino acid in the translated protein sequence. (scienceblogs.com)
  • John H. Krystal, M.D., Editor of Biological Psychiatry and affiliated with both Yale University School of Medicine and the VA Connecticut Healthcare System, adds his thoughts about this exciting new data: "We look forward to the era of personalized medicine, when doctors are able to use genetic information about their patients to guide treatment. (innovations-report.com)
  • Further studies on natural variation in the rate of aging will pave the way for a comprehensive understanding of the biological regulation of healthy aging. (eurekalert.org)
  • Second, knowledge of the gene's identity that mediates the biological consequences of this variation will improve understanding of the molecular pathways that participate in disease pathogenic processes. (diabetesjournals.org)
  • Mice and zebrafish are commonly used when studying the biology underlying human diseases as they have a number of important genetic and biological similarities to us. (cam.ac.uk)
  • Genetic variation is a fact that a biological system - individual and population - is different over space. (wn.com)
  • The team, led by Monkol Lek , a research fellow in the MacArthur lab, found variants spaced around every eight base pairs, on average, within regions of the genome that are particularly prone to variation. (the-scientist.com)
  • Whole-exome sequencing of families affected by simplex autism has yielded tremendous insight into genetic variants conferring risk in coding regions of the genome. (sfari.org)
  • Genetic variation within noncoding and regulatory regions of the genome, however, remains largely unknown. (sfari.org)
  • A website highlights common genetic variations that made a splash in 2009. (technologyreview.com)
  • We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies. (nih.gov)
  • Understanding the pattern of common genetic variation in the human population is a major focus of the program. (broadinstitute.org)
  • First, this involves creating a systematic catalog of the full range of genetic variants (large and small, rare and common) present in the human population, through the analysis of DNA sequencing data from hundreds of thousands of people. (broadinstitute.org)
  • Second, it involves understanding how, with such information, it becomes possible to undertake systematic studies of the genetic factors underlying inherited susceptibility to common diseases. (broadinstitute.org)
  • This research will provide the groundwork for understanding how common genetic changes in TSC1 may affect risk of developing breast and other cancers but may also provide clues for identifying those patients who may receive the most benefit from therapies targeting the mTOR pathway," noted Dr. Hirshfield. (newswise.com)
  • In addition to expanding the library of genetic changes that can underlie pulmonary fibrosis, this study's findings demonstrate that both rare and common genetic variants contribute significantly to pulmonary fibrosis risk," says James Kiley, PhD, Director of NHLBI's Division of Lung Diseases. (medindia.net)
  • Trade-offs in the sizes of visual and olfactory organs are a common feature of animal evolution, but the underlying genetic and developmental mechanisms have not been clear. (phys.org)
  • The overlap in heritability that could be attributed to common genetic variation was about 15 percent between schizophrenia and bipolar disorder, about 10 percent between bipolar disorder and depression, about 9 percent between schizophrenia and depression, and about 3 percent between schizophrenia and autism. (psychcentral.com)
  • For example, common genetic variation accounted for 23 percent of schizophrenia, but evidence from twin and family studies estimate its total heritability at 81 percent. (psychcentral.com)
  • A common Designer explains the presence of genetic similarity between different kinds of creatures. (answersingenesis.org)
  • Looking across 108 GPCRs that are targeted by known drugs, the team found over 14,000 variants, and the distribution was long-tailed indeed: any individual receptor had an average of 3 or 4 common variations across the 64,000 patients (more than one in a thousand minor allele frequency ) and 128 rare ones. (sciencemag.org)
  • In 2007, we saw many publications in very prestigious journals that used genome-wide association studies (GWAS) to identify common genetic factors that influence health and disease, and I think that's where the AAAS felt motivated to call human genetic variation the breakthrough of the year. (anthropology.net)
  • This was not attributable to mundane confounds related to individual task requirements but instead indicated the existence of common genetic factors influencing variation in both impulsivity and locomotor activity. (jneurosci.org)
  • Within the Prostate Cancer Prevention Trial (PCPT), a large randomized trial, we test whether common genetic variation in selenoenzymes and lifestyle factors are associated with activity of selenoenzymes. (fredhutch.org)
  • Taken together, the results indicate that habitat connectivity and environmental heterogeneity contribute to high neutral and adaptive genetic variation in Primula farinosa on the island Öland, SE Sweden, and illustrate that effects on both male and female reproductive success need to be considered to understand fully the evolution of floral display. (diva-portal.org)
  • By using a variety of genetic tools, this research will characterize the molecular aspect of adaptive genetic variation in the bank vole. (jyu.fi)
  • A simple Mathematica program for generating color plots (as a function of allele frequency) of the total, additive and dominance genetic variances, heritability, breeding values, average effects and domiance deviations for a single diallelic locus. (arizona.edu)
  • Although we found no new allele or undescribed variation, the whole pattern of variation for these markers gives the Wichí a particular population identity. (jhu.edu)
  • Handled with care, the new "HapMap" of genetic variation could reveal the genetic roots of many diseases. (technologyreview.com)
  • Among its strengths, they said, were its large size -- which is essential for such studies if they are to be useful -- that it focused on a single class of gene variation and that it took into account numerous possible confounders such as sex, other illnesses like asthmas, enrollment sites, associated diseases and infections. (rxpgnews.com)
  • An international team of scientists and doctors has identified a family of five new genetic diseases which are likely to affect more than 1 in 5000 children. (medicalxpress.com)
  • Genetic Variation in Resistance to Inflammation and Infectious Disease, Inflammatory Diseases Mahin Khatami, IntechOpen, DOI: 10.5772/26969. (intechopen.com)
  • Around 80% of rare diseases are thought to have a genetic component, but currently many patients experience long delays in diagnosis or never receive a diagnosis at all. (cam.ac.uk)
  • Working with Dr Nadia Schoenmakers at the Wellcome Trust-Medical Research Council Institute of Metabolic Science in Cambridge, the team was able to show that the new algorithm can identify genetic changes in patients with congenital thyroid disease, and can reveal candidate genetic changes in 'Mendelian' diseases where only a single gene is involved. (cam.ac.uk)
  • This is principally because genetic research often relies on studies of twins or other relatives, and individuals rarely suffer the same diseases and receive the same treatment. (gponline.com)
  • The rate of increase in fitness of any organism at any time is equal to its genetic variance in fitness at that time. (gnxp.com)
  • We now know that a rather large chunk of the variance in metformin response is contributed by genetic factors,' he said. (gponline.com)
  • The affects of structural variation on agonist/antagonist pharmacology (i.e. the u-opioid data in the paper) makes perfect sense from the perspective of GPCR theory. (sciencemag.org)
  • Within a language family, phoneme evolution along genetic, geographic, or cognate-based linguistic trees predicts similar ancestral phoneme states to those predicted from ancient sources. (pnas.org)
  • The genetic distance is then simply a function of time since divergence, as well as the magnitude of gene flow (which is inversely proportional to geographic distance). (gnxp.com)
  • Going back to South Asians, putting them on a genetic-geographic map and attempting to adduce deep demographic history is total folly, because evidence is building that they are a compound synthetic population , whose origins in time are relatively recent. (gnxp.com)
  • For population pairs from the same cluster, as geographic distance increases, genetic distance increases in a linear manner, consistent with a clinal population structure. (gnxp.com)
  • However, for pairs from different clusters, genetic distance is generally larger than that between intracluster pairs that have the same geographic distance. (gnxp.com)
  • For example, genetic distances for population pairs with one population in Eurasia and the other in East Asia are greater than those for pairs at equivalent geographic distance within Eurasia or within East Asia. (gnxp.com)
  • Loosely speaking, it is these small discontinuous jumps in genetic distance-across oceans, the Himalayas, and the Sahara-that provide the basis for the ability of STRUCTURE to identify clusters that correspond to geographic regions. (gnxp.com)
  • But if they do not exist if the right genetic variation is not present the population will not evolve and could be wiped out by the disease. (berkeley.edu)
  • Although this example is by no means conclusive, it is possible that the cheetahs' low genetic variation unlike the lions' more extensive variation meant that none of them had the right immune system gene variants to fend off the disease. (berkeley.edu)
  • A key next step for research is figuring out how these genetic variants work with environmental factors in the development of the disease. (medindia.net)
  • These findings also offer new insights into the genetic causes of prostate cancer - the more we learn about how the disease develops, the greater chance we have of identifying people at risk and finding new treatments. (cancerresearchuk.org)
  • Developing statistical methods to relate genetic variation to phenotypes, disease, and function. (genome.gov)
  • Non-coding enhancer DNA may be important for identifying genetic risk in neurological disease. (ucsd.edu)
  • Focusing on genetic variation associated with Alzheimer's disease (AD), we show preferential enrichment in disease risk variants in enhancers that are selectively active in microglia, the major immune cell in the brain," said senior author Christopher Glass, MD, PhD, professor of cellular and molecular medicine and professor of medicine at UC San Diego School of Medicine. (ucsd.edu)
  • First, the defining of causative risk predisposing genetic variation will allow improvements to be made to current clinical risk models for disease onset and progression. (diabetesjournals.org)
  • At present, most carrier screening programs focus on high risk groups such as screening for cystic fibrosis (CF) carriers among Caucasians and screening for CF, Tay Sachs and other genetic disease carriers among Ashkenazi Jews. (bioedonline.org)
  • If the approach pans out and doctors adopt it, a bad score wouldn't mean you'd get a disease, just that your genetic makeup increases the chance - one more piece of information in deciding care. (wn.com)
  • Individuals with these disorders were more likely to have suspect variation at the same four chromosomal sites. (psychcentral.com)
  • At present, we have some knowledge of the pressures that operate at the various stages of migration, but we know very little about the extent of genetic variation in various aspects of the migratory syndrome. (springer.com)
  • Mr Zhou said few previous studies had looked at the extent to which genetic variations affect responses to drug treatment. (gponline.com)
  • A bbott and G omes 1989 ) make Arabidopsis thaliana well suited for studying the impact of reduced effective recombination on the levels and patterning of nucleotide variation across the genome. (genetics.org)
  • Why would we be able to detect more genetic variation by blasting with nucleotide sequences? (scienceblogs.com)
  • The study's success also suggests that additional genetic determinants of dietary and lifestyle behaviors may be identified in the future using a similar genomebased research strategy. (bio-medicine.org)
  • This suggests that response to metformin is more strongly linked to genetic factors than individuals' height or the age at which they develop diabetes. (gponline.com)
  • A new analysis shows that individuals with high levels of genetic variation and elevated exposure to ozone in the environment are at an even higher risk for developing autism than would be expected by adding the two risk factors together. (enn.com)