Genotypic differences observed among individuals in a population.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
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.
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.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The relationships of groups of organisms as reflected by their genetic makeup.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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)
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).
Genetic loci associated with a QUANTITATIVE TRAIT.
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.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
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.
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.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
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.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Any method used for determining the location of and relative distances between genes on a chromosome.
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.
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.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
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.
Individuals whose ancestral origins are in the continent of Europe.
An individual having different alleles at one or more loci regarding a specific character.
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.
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)
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.
The mating of plants or non-human animals which are closely related genetically.
The fluctuation of the ALLELE FREQUENCY from one generation to the next.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
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)
The external elements and conditions which surround, influence, and affect the life and development of an organism or population.
The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.
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.
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.
The systematic study of the complete DNA sequences (GENOME) of organisms.
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.
A country spanning from central Asia to the Pacific Ocean.
The pattern of any process, or the interrelationship of phenomena, which affects growth or change within a population.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
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.
Number of individuals in a population relative to space.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.
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)
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.
An individual in which both alleles at a given locus are identical.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
The total process by which organisms produce offspring. (Stedman, 25th ed)
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)
Changes in biological features that help an organism cope with its ENVIRONMENT. These changes include physiological (ADAPTATION, PHYSIOLOGICAL), phenotypic and genetic changes.
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.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
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.
A plant genus of the family Phrymaceae. Members contain 6-geranylflavanones and mimulone.
The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The combined effects of genotypes and environmental factors together on phenotypic characteristics.
The total number of individuals inhabiting a particular region or area.
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.
A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.
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.
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.
A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.
Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.
Databases devoted to knowledge about specific genes and gene products.
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.
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.
Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.
Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
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.
An animal or plant species in danger of extinction. Causes can include human activity, changing climate, or change in predator/prey ratios.
Woody, usually tall, perennial higher plants (Angiosperms, Gymnosperms, and some Pterophyta) having usually a main stem and numerous branches.
The biological objects that contain genetic information and that are involved in transmitting genetically encoded traits from one organism to another.
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.
Elements of limited time intervals, contributing to particular results or situations.
Deoxyribonucleic acid that makes up the genetic material of plants.
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).
The genetic complement of a plant (PLANTS) as represented in its DNA.
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.
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.
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.
Individuals whose ancestral origins are in the continent of Africa.
The physical measurements of a body.
Tracts of land completely surrounded by water.
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.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of CHLOROPLASTS.
Computer-based representation of physical systems and phenomena such as chemical processes.
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)
A phenomenon in which multiple and diverse phenotypic outcomes are influenced by a single gene (or single gene product.)
Statistical interpretation and description of a population with reference to distribution, composition, or structure.
Biochemical identification of mutational changes in a nucleotide sequence.
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.
A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.
Sexual activities of animals.
The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.
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)
A plant genus in the family PINACEAE, order Pinales, class Pinopsida, division Coniferophyta. They are evergreen trees mainly in temperate climates.
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.
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.
The longterm manifestations of WEATHER. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
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.
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.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
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.
The functional hereditary units of PLANTS.
The reproductive organs of plants.
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.
The capacity to conceive or to induce conception. It may refer to either the male or female.
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.
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.
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.
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.
The functional hereditary units of INSECTS.
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.
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)
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.
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.
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 of the b group that have alpha-band absorption of 563-564 nm. They occur as subunits in MITOCHONDRIAL ELECTRON TRANSPORT COMPLEX III.
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.
The protection, preservation, restoration, and rational use of all resources in the total environment.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
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.
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).
Slender-bodies diurnal insects having large, broad wings often strikingly colored and patterned.
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.
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.
Sequential operating programs and data which instruct the functioning of a digital computer.
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.
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.
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)
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.
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, 8/4/2000)
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.
A plant genus of the family CISTACEAE. The common name of rock rose is also sometimes used with the closely related Helianthemum genus (CISTACEAE).
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.
Coloration or discoloration of a part by a pigment.
The transmission of traits encoded in GENES from parent to offspring.
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)
Persons living in the United States having origins in any of the black groups of Africa.
A plant genus of the family FABACEAE. Members of this genus can cause CONTACT DERMATITIS.
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.
A diverse genus of minute freshwater CRUSTACEA, of the suborder CLADOCERA. They are a major food source for both young and adult freshwater fish.
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.
A plant genus of the family FAGACEAE that is a source of TANNINS. Do not confuse with Holly (ILEX).
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.
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)
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.
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.
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.
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.
The normal length of time of an organism's life.
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.
Groups of individuals whose putative ancestry is from native continental populations based on similarities in physical appearance.
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)
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).
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.
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 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.
INSECTS of the order Coleoptera, containing over 350,000 species in 150 families. They possess hard bodies and their mouthparts are adapted for chewing.
A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
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.
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)
The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms.
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
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.
The genetic complement of an insect (INSECTS) as represented in its DNA.
The region of DNA which borders the 5' end of a transcription unit and where a variety of regulatory sequences are located.
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.
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)

TY - JOUR. T1 - The nature of quantitative genetic variation in drosophila. II* average dominance of abdominal bristle polygenes. AU - Frankham, R.. PY - 1974. Y1 - 1974. N2 - A comparison of 13 abdominal bristle selection lines with their base population and with reciprocal Fls between the selection lines and the base population was carried out. There was no significant directional contribution of maternally inherited factors to selection response.Different estimates of average dominance ranged from 0·28 to 0·43 with a mean of 0·39. This indicates that the alleles increasing abdominal bristle number are, on average, partly recessive. Some of the possible consequences of this are discussed.. AB - A comparison of 13 abdominal bristle selection lines with their base population and with reciprocal Fls between the selection lines and the base population was carried out. There was no significant directional contribution of maternally inherited factors to selection response.Different estimates of ...
Phylogenetic studies, particularly those based on rDNA sequences from plant roots and basidiomata, have revealed a strikingly high genetic diversity in the Sebacinales. However, the factors determining this genetic diversity at higher and lower taxonomic levels within this order are still unknown. In this study, we analysed patterns of genetic variation within two morphological species, Sebacina epigaea and S. incrustans, based on 340 DNA haplotype sequences of independent genetic markers from the nuclear (ITS + 5.8S + D1/D2, RPB2) and mitochondrial (ATP6) genomes for 98 population samples. By characterising the genetic population structure within these species, we provide insights into species boundaries and the possible factors responsible for genetic diversity at a regional geographic scale. We found that recombination events are relatively common between natural populations within Sebacina epigaea and S. incrustans, and play a significant role in generating intraspecific genetic diversity.
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
Cryptic genetic variation (CGV) is the hidden genetic variation that can be unlocked by perturbing normal conditions. CGV can drive the emergence of novel complex phenotypes through changes in gene expression. Although our theoretical understanding of CGV has thoroughly increased over the past decade, insight into polymorphic gene expression regulation underlying CGV is scarce. Here we investigated the transcriptional architecture of CGV in response to rapid temperature changes in the nematode Caenorhabditis elegans. We analyzed regulatory variation in gene expression (and mapped eQTL) across the course of a heat stress and recovery response in a recombinant inbred population. We measured gene expression over three temperature treatments: i) control, ii) heat stress, and iii) recovery from heat stress. Compared to control, exposure to heat stress affected the transcription of 3305 genes, whereas 942 were affected in recovering animals. These affected genes were mainly involved in metabolism and
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.
Nucleotide diversity provides a measure of genetic variation that is normalized by the number of chromosomes sampled. We calculated two conventional measures of nucleotide diversity for each gene: π, the average heterozygosity per site (28, 29), and θ, the population mutation parameter (13, 30). The average nucleotide diversity for the 292 autosomal genes (π = 0.058% and θ = 0.096%) and the 21 X-linked genes (π = 0.028% and θ = 0.045%) were within the range of values previously described (2-4). The fact that the average nucleotide diversity for the X-linked genes was reduced compared with the average autosomal nucleotide diversity is consistent with an equal number of males and females in the human population, in which males have only a single copy of the X chromosome.. We also calculated the autosomal nucleotide diversity values separately for each functional gene region and for each population. Exon-intron boundaries showed significantly higher average π values (P , 0.01 by ...
Human genetic variation is expected to play a central role in personalized medicine. Yet only a fraction of the natural genetic variation that is harbored by humans has been discovered to date. Here we report almost 2 million small insertions and deletions (INDELs) that range from 1 bp to 10,000 bp …
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
Wright himself believed that values ,0.25 represent very great genetic variation and that an FST of 0.15-0.25 represented great variation. However, about 5% of human variation occurs between populations within continents, therefore FST values between continental groups of humans (or races) of as low as 0.1 (or possibly lower) have been found in some studies, suggesting more moderate levels of genetic variation.[56] Graves (1996) has countered that FST should not be used as a marker of subspecies status, as the statistic is used to measure the degree of differentiation between populations,[56] although see also Wright (1978).[59]. Jeffrey Long and Rick Kittles give a long critique of the application of FST to human populations in their 2003 paper Human Genetic Diversity and the Nonexistence of Biological Races. They find that the figure of 85% is misleading because it implies that all human populations contain on average 85% of all genetic diversity. They argue the underlying statistical model ...
Genetic diversity provides the capacity for plants to meet changing environments. It is fundamentally important in crop improvement. Fifty-nine local maize lines developed at INERA and 41 exotic (temperate and tropical) inbred lines were characterized using 1057 SNP markers to (1) analyse the genetic diversity in a diverse set of maize inbred lines; (2) determine the level of genetic diversity in INERA inbred lines and patterns of relationships of these inbred lines developed from two sources; and (3) examine the genetic differences between local and exotic germplasms. Rogers genetic distance for about 64% of the pairs of lines fell between 0.300 and 0.400. Sixty one per cent of the pairs of lines also showed relative kinship values of zero. Model-based population structure analysis and principal component analysis revealed the presence of 5 groups that agree, to some extent, with the origin of the germplasm. There was genetic diversity among INERA inbred lines, which were genetically less closely
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
Selection against deleterious alleles maintained by mutation may cause a reduction in the amount of genetic variability at linked neutral sites. This is because a new neutral variant can only remain in a large population for a long period of time if it is maintained in gametes that are free of deleterious alleles, and hence are not destined for rapid elimination from the population by selection. Approximate formulas are derived for the reduction below classical neutral values resulting from such background selection against deleterious mutations, for the mean times to fixation and loss of new mutations, nucleotide site diversity, and number of segregating sites. These formulas apply to random-mating populations with no genetic recombination, and to populations reproducing exclusively asexually or by self-fertilization. For a given selection regime and mating system, the reduction is an exponential function of the total mutation rate to deleterious mutations for the section of the genome ...
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
A graphical representation of the typical human karyotype. The human mitochondrial DNA.Human genetic variation is the genetic differences in and among populations. There may be multiple variants of a
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.
It is well known that the effective size of a population (Ne) is one of the major determinants of the amount of genetic variation within the population. However, it is unclear whether the types of genetic variations are also dictated by the effective population size. To examine this, we obtained whole genome data from over 100 populations of the world and investigated the patterns of mutational changes. Our results revealed that for low frequency variants, the ratio of AT→GC to GC→AT variants (β) was similar across populations, suggesting the similarity of the pattern of mutation in various populations. However, for high frequency variants, β showed a positive correlation with the effective population size of the populations. This suggests a much higher proportion of high frequency AT→GC variants in large populations (e.g. Africans) compared to those with small population sizes (e.g. Asians). These results imply that the substitution patterns vary significantly between populations. These
Evolutionary developmental genetics has historically been carried out by two teams: Molecular evolutionists who emphasize divergence between species or increased taxa, and quantitative geneticists who examine variation inside species. Neither strategy actually involves grips with the complexities of evolutionary transitions, notably in mild of the conclusion from genome-wide affiliation research that the majority complicated traits match an infinitesimal structure, being influenced by 1000s of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate main evolutionary adjustments and supply a bridge between the conceptual therapies of macro- and micro-evolution.. We provide cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can result in developmental system drift and, sheltered inside canalized processes, could facilitate developmental transitions and the evolution of novelty. Synthesis of the 2 ...
9780131838765 Our cheapest price for Race and Human Diversity: A Biocultural Approach is $44.89. Free shipping on all orders over $35.00.
Most biological traits of human importance are complex in nature; their manifestation controlled by the cumulative effect of many genetic factors interacting with one another and with the individuals life history. Because of this, mouse genetic reference populations (GRPs) consisting of collections of inbred lines or recombinant inbred lines (RIL) derived from crosses between inbred lines are of particular value in analysis of complex traits, since massive amounts of data can be accumulated on the individual lines. However, existing mouse GRPs are derived from inbred lines that share a common history, resulting in limited genetic diversity, and reduced mapping precision due to long-range gametic disequilibrium. To overcome these limitations, the Collaborative Cross (CC) a genetically highly diverse collection of mouse RIL was established. The CC, now in advanced stages of development, will eventually consist of about 500 RIL derived from reciprocal crosses of eight divergent founder strains of mice,
Some people experience more bitterness and less sweetness when drinking alcoholic beverages, and this relates to inherited genes.
KVAR1 : Diagnostic or predictive testing for specific conditions when a DNA sequence variant of interest has been previously identified in a family member, and follow-up testing for this specific variant in other family members is desired   Carrier screening for individuals at risk for having a DNA sequence variant that was previously identified in a family member   Segregation analysis for a single familial DNA sequence variant
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 ...
Alternative splicing of genes is an efficient means of generating variation in protein function. Several disease states have been associated with rare genetic variants that affect splicing patterns. Conversely, splicing efficiency of some genes is known to vary between individuals without apparent ill effects. What is not clear is whether commonly observed phenotypic variation in splicing patterns, and hence potential variation in protein function, is to a significant extent determined by naturally occurring DNA sequence variation and in particular by single nucleotide polymorphisms (SNPs). In this study, we surveyed the splicing patterns of 250 exons in 22 individuals who had been previously genotyped by the International HapMap Project. We identified 70 simple cassette exon alternative splicing events in our experimental system; for six of these, we detected consistent differences in splicing pattern between individuals, with a highly significant association between splice phenotype and neighbouring
Since the extent and distribution of disease predisposing genetic variation in the human species today is the result of a long and complicated evolutionary, migratory, and demographic history, we are interested in investigating population and evolutionary processes affecting genetic variations in modern human populations. We have been working on assessing the extent of inter- and intra-population genomic variation and detecting signatures of positive natural selection as well as investigating genomic variation across multiple global and regional populations. In addition, we are also interested in understanding the history of introgression from archaic sister species and their distribution into extant human populations as well as the convergent evolution between domesticated species (e.g. dogs) and human beings. Such population and evolutionary genomic studies provide a unique opportunity to look at disease genetics at a much broader scale. Furthermore, we are also interested in developing novel ...
TY - JOUR. T1 - Distribution and effects of nonsense polymorphisms in human genes. AU - Yamaguchi-Kabata, Yumi. AU - Shimada, Makoto K.. AU - Hayakawa, Yosuke. AU - Minoshima, Shinsei. AU - Chakraborty, Ranajit. AU - Gojobori, Takashi. AU - Imanishi, Tadashi. PY - 2008/10/14. Y1 - 2008/10/14. N2 - Background: A great amount of data has been accumulated on genetic variations in the human genome, but we still do not know much about how the genetic variations affect gene function. In particular, little is known about the distribution of nonsense polymorphisms in human genes despite their drastic effects on gene products. Methodology/Principal Findings: To detect polymorphisms affecting gene function, we analyzed all publicly available polymorphisms in a database for single nucleotide polymorphisms (dbSNP build 125) located in the exons of 36,712 known and predicted protein-coding genes that were defined in an annotation project of all human genes and transcripts (H-InvDB ver3.8). We found a total ...
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 ...
Photo: Dr. Andrew Olshan]. This is the finding of a new large-scale genetic study of head and neck cancers co-authored by Dr. Andrew Olshan, Barbara Sorenson Hulka Distinguished Professor in cancer epidemiology and chair of the department of epidemiology at the University of North Carolinas Gillings School of Global Public Health. A write-up of the study appears in the October 17 issue of Nature Genetics.. The study, which involved nearly 12,000 people - half with cancer of the oral cavity or pharynx, and half without any such cancer - showed why some individuals infected with HPV may go on to develop oropharyngeal cancer while others do not. The researchers conducted extensive DNA analysis of more than seven million variants for each individual. The UNC site contributed samples from the Carolina Head and Neck Cancer (CHANCE) study, led by Dr. Olshan.. These new findings on the association of immune system-related genetic variation may provide new insight into the mechanisms of protection ...
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
Some genetic variations may affect our health by altering how DNA coils and interacts in its 3-D shape - Highlight
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 ...
Variation is the driving force behind evolution and the reason why any species persists on this planet. Yet the science of human diversity is curtailed by controversial politics and outcries against racism. Some resistance comes from indigenous groups who feel they would be lab rats, but most comes from cautious government groups like the European Union, who at one point banned all research into human diversity. As a result gene studies were forced to obliterate the ethnic source of their samples.. Of course it is important to be sensitive to the threat of racism; historically human diversity science has led to eugenic groups, the sterilisation of undesirables and most infamously, the hideous acts committed by the Nazis. However science is the only real route to defeating ignorance (listening Daily Mail?) and as gene trials have progressed it has become obvious that the main differences are ones we see - hair, skin colour and facial features. We might have just our mothers eyes, but we all ...
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 - ...
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 ...
Aberrations in chromosomal copy number are one of the most common molecular features observed in cancer. Quantifying the degree of numerical chromosomal variation in single cells across a population of cells is of interest to researchers studying whole chromosomal instability (W-CIN). W-CIN, a state of high numerical chromosomal variation, contributes to treatment resistance in cancer. Here, we introduce aneuvis, a web application that allows users to determine whether numerical chromosomal variation exists between experimental treatment groups. The web interface allows users to upload molecular cytogenetic or processed whole-genome sequencing data in a cell-by-chromosome matrix format and automatically generates visualizations and summary statistics that reflect the degree of numeric chromosomal variability. Aneuvis is the first user-friendly web application to help researchers identify the genetic and environmental perturbations that promote numerical chromosomal variation.
Genetic diversity and population structure analysis between Indian red jungle fowl and domestic chicken using microsatellite markers. ...
Ex situ conservation, while helpful in humankinds efforts to sustain and protect our environment, is rarely enough to save a species from extinction. It is to be used as a last resort, or as a supplement to in situ conservation because it cannot recreate the habitat as a whole: the entire genetic variation of a species, its symbiotic counterparts, or those elements which, over time, might help a species adapt to its changing surroundings. Instead, ex situ conservation removes the species from its natural ecological contexts, preserving it under semi-isolated conditions whereby natural evolution and adaptation processes are either temporarily halted or altered by introducing the specimen to an unnatural habitat. In the case of cryogenic storage methods, the preserved specimens adaptation processes are (quite literally) frozen altogether. The downside to this is that, when re-released, the species may lack the genetic adaptations and mutations which would allow it to thrive in its ever-changing ...
Analysis of the amount and distribution of genetic variation can yield information about the number of introductions and history of an invasive species, which may be relevant for understanding the evolutionary potential and spread of invaders, as well as for creating best management practices for curbing them. We explored the genetic patterns and invasion history of the perennial, ornamental herb Lupinus polyphyllus Lindl. in Finland, where the species has spread rapidly during the past hundred years. Using 13 microsatellite loci, we determined the genetic variation of L. polyphyllus in 51 sites across a latitudinal gradient that reflected the invasion history of the species in this country. We found that the sampled populations were significantly genetically differentiated among sites, as indicated by the global F(ST) value (0.19) and AMOVA results (16.7 % of total genetic variation occurred among sites), and this differentiation slightly increased with increasing geographic distance (r = ...
Rapid development of sequencing technologies and bioinformatic tools makes the complete genome sequencing of many species possible, which provides a starting point to unravel the tremendous genetic variation and diversity at the genome scale. Amongst several model organisms examined to date, such as human, mouse, Arabidopsis, rice, and maize, genome-wide patterns of genetic variation are able to be captured by sampling a relatively small number of genomes [14, 20, 50-52]. By resequencing two sweet and one grain sorghum inbred lines, we uncovered nearly two million SNPs and indels, along with large numbers of PAVs and CNVs. This is a first report on the genome-wide patterns of genetic variation in sorghum, which will be valuable for further genotype-phenotype studies and for molecular breeding of this important C4 model crop.. Our study shows that the proportions of genic SNPs identified as in coding regions, intronic regions, or UTRs are 42.3%, 50.2%, and 7.5%, respectively. Compared to ...
The genetic diversity of Setipinna taty, which is commercially fished in the China Sea, was studied based on mitochondrial DNA control region sequences. PCR was used to amplify the control region fragment in 100 individuals of S. taty collected from Weihai (WH), Yantai (YT), Zhoushan (ZS), Xiangshan (XS), and Ninghai (NH) in China. A control region fragment of 656 bp was successfully sequenced in these 100 individuals. The A+T content of this S. taty control region was 71.7%; 172 variable sites and 62 haplotypes were found.
Population genetic structure and intrapopulation levels of genetic variation have important implications for population dynamics and evolutionary processes. Habitat fragmentation is one of the major threats to biodiversity. It leads to smaller population sizes and reduced gene flow between populations and will thus also affect genetic structure. We use a natural system of island and mainland populations of house sparrows along the coast of Norway to characterize the different population genetic properties of fragmented populations. We genotyped 636 individuals distributed across 14 populations at 15 microsatellite loci. The level of genetic differentiation was estimated using F-statistics and specially designed Mantel tests were conducted to study the influence of population type (i.e. mainland or island) and geographic distance on the genetic population structure. Furthermore, the effects of population type, population size and latitude on the level of genetic variation within populations were ...
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes ,99% of SNP variants with a frequency of ,1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies ...
Background: Population differentiation has proved to be effective for identifying loci under geographically-localized positive selection, and has the potential to identify loci subject to balancing selection. We have previously investigated the pattern of genetic differentiation among human populations at 36.8 million genomic variants to identify sites in the genome showing high frequency differences. Here, we extend this dataset to include additional variants, survey sites with low levels of differentiation, and evaluate the extent to which highly differentiated sites are likely to result from selective or other processes. Results: We demonstrate that while sites of low differentiation represent sampling effects rather than balancing selection, sites showing extremely high population differentiation are enriched for positive selection events and that one half may be the result of classic selective sweeps. Among these, we rediscover known examples, where we actually identify the established ...
In most existing genetic variant association studies, common trait, common variants, which asserts that common genetic variants contribute to most of traits (disease susceptibilities), serves as the central assumption. Researchers have successfully identified some significant associations between common single nucleotide polymorphisms (SNPs) and disease traits [1]. However, despite the enormous efforts expended on association studies of complex traits, common genetic variants only show a moderate influence on different phenotypes in many reported disease associations and consequently have limited diagnostic value [2, 3]. While the identification of common variants creates a dilemma, known as common trait, rare variants, an alternative hypothesis, which asserts that multiple rare variants with moderate to high penetrances may collectively influence disease susceptibilities, has been suggested in some literatures [3-5]. Rare variants are defined as those whose minor allele frequencies (MAF) ...
TY - JOUR. T1 - Neandertal origin of genetic variation at the cluster of OAS immunity genes. AU - Mendez, Fernando L.. AU - Watkins, Joseph C.. AU - Hammer, Michael F.. PY - 2013/4/1. Y1 - 2013/4/1. N2 - Analyses of ancient DNA from extinct humans reveal signals of at least two independent hybridization events in the history of non-African populations. To date, there are very few examples of specific genetic variants that have been rigorously identified as introgressive. Here, we survey DNA sequence variation in the OAS gene cluster on chromosome 12 and provide strong evidence that a haplotype extending for ∼185 kb introgressed from Neandertals. This haplotype is nearly restricted to Eurasians and is estimated to have diverged from the Neandertal sequence ∼125 kya. Despite the potential for novel functional variation, the observed frequency of this haplotype is consistent with neutral introgression. This is the second locus in the human genome, after STAT2, carrying distinct haplotypes that ...
An international team of more than 1,000 scientists participated in a new study showing an integrated map of genetic variation from 1,092 human genomes.. A newly published compendium of the genetic alphabets of more than 1000 individuals from around the world illustrates how similar humans are - but also how crucial genetic variations can be.. The publication on November 1 in the journal Nature of the 1000 Genomes Project provides the most comprehensive catalog of human variations to date and will be indispensable to the practice of personalized medicine.. Sequencing an individuals DNA is useless in medicine unless there is a frame of reference to compare it to, said Yale Universitys Mark Gerstein, the Albert L. Williams Professor of Biomedical Informatics and one of more than 1,000 scientists who participated in international effort.. An individual human genome contains on an average 3 million variations. Without a reference library of variations, trying to hone in on the most informative ...
...Two genes in which variation affects intake of caffeine the most wide...The genes identified were CYP1A2 which has previously been implicated...Caffeine is implicated in numerous physiological and medical condition...Apart from smoking genetic determinants of lifestyle behaviors have g...,Genetic,variants,associated,with,caffeine,intake,identified,biological,biology news articles,biology news today,latest biology news,current biology news,biology newsletters
Genetic diversity within species may promote resilience to environmental change, yet little is known about how such variation is distributed at broad geographic scales. Here we develop a novel Bayesian methodology to analyse multi-species genetic diversity data in order to identify regions of high or low genetic diversity. We apply this method to co-distributed taxa from Australian marine waters. We extracted published summary statistics of population genetic diversity from 118 studies of 101 species and | 1000 populations from the Australian marine economic zone. We analysed these data using two approaches: a linear mixed model for standardised data, and a mixed beta-regression for unstandardised data, within a Bayesian framework. Our beta-regression approach performed better than models using standardised data, based on posterior predictive tests. The best model included region (Integrated Marine and Coastal Regionalisation of Australia (IMCRA) bioregions), latitude and latitude squared. Removing
TY - JOUR. T1 - POT1 loss-of-function variants predispose to familial melanoma. AU - Robles-Espinoza, Carla Daniela. AU - Harland, Mark. AU - Ramsay, Andrew J.. AU - Aoude, Lauren G.. AU - Quesada, Victor. AU - Ding, Zhihao. AU - Pooley, Karen A.. AU - Pritchard, Antonia L.. AU - Tiffen, Jessamy C.. AU - Petljak, Mia. AU - Palmer, Jane M.. AU - Symmons, Judith. AU - Johansson, Peter A.. AU - Stark, Mitchell S.. AU - Gartside, Michael G.. AU - Snowden, Helen. AU - Montgomery, Grant W.. AU - Martin, Nicholas G.. AU - Lite, Jimmy Z.. AU - Choi, Jiyeon. AU - Makowski, Matthew. AU - Brown, Kevin M.. AU - Dunning, Alison M.. AU - Keane, Thomas M.. AU - Lopez-Otin, Carlos. AU - Gruis, Nelleke A.. AU - Hayward, Nicholas K.. AU - Bishop, D. Timothy. AU - Newton-Bishop, Julia A.. AU - Adams, David J.. N1 - © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.. PY - 2014/5. Y1 - 2014/5. N2 - Deleterious germline variants in CDKN2A account for around 40% of familial melanoma ...
The historical demography of the populations of domestic pigs in Europe and China was examined using mismatch distributions, which represent the frequency distribution of pairwise differences among all sampled haplotypes. Theoretical studies have shown that population bottlenecks and population expansions have a strong effect on the pattern of genetic polymorphism among haplotypes in the population (Rogers & Harpending 1992). For instance, populations in long and stable demographic equilibrium have multimodal mismatch distribution (ragged and chaotic) whereas the distribution appears unimodal after recent demographic expansions (Rogers & Harpending 1992; Harpending 1994). The mismatch distributions as well as the network analysis were consistent with population expansions in the ancestors for both contemporary Chinese and European domestic pigs (figures 3 and 4). The crucial question is whether the population expansion occurred before or after domestication. Similar signatures of population ...
Brewer, N., DeFrank, J., Chiu, W., Ibrahim, J., Walko, C., Rubin, P., ... Irvin, W. (2014). Patient understanding of how genotype variation affects benefits of tamoxifen therapy for breast cancer. Public Health Genomics, 17(1), 43 - 47 ...
BackgroundSesame is an important oil crop widely cultivated in Africa and Asia continent. Characterization of genetic diversity and population structure of sesame genotypes in these continents can be used to designing breeding methods. In the present study, 300 sesame g...
The Society runs two themed meetings each year as satellites to either the American or European Societies of Human Genetics annual meeting as a forum for scientists to exchange ideas and form collaborations. Prominent speakers in the field are invited. The meetings are designed to update and increase knowledge of human genome variation and generally attract a stimulating and interesting collection of abstracts in all fields of human genome variation making it an ideal forum to share information and results. We invite members and non-members alike to attend these meetings.. FORTHCOMING HGVS MEETINGS ...
Comparing different methods of estimating the genetic diversity could define their usefulness in plant breeding programs. In this study, a total of 18 morphological traits and 20 simple sequence repeat (SSR) loci were used to study the morphological and genetic diversity among 20 maize hybrids selected from different countries, and to classify the hybrids into groups based on molecular profiles and morphological traits. To collect morphological data, a field experiment was carried out using an RBCD design with three replications in Moghan, Ardabil, Iran. The highest estimates for genetic coefficients of variation were observed in anthesis-silking interval, followed by grain yields, leaf chlorophyll rates, kernel row numbers, and ear heights. The total number of PCR-amplified products was 84 bands, all of which were polymorphic. Among the studied primers,NC009,BNLG1108,BNLG1194,PHI026 and PHI057 showed the maximum polymorphism information content(PIC) and the greatest diversity. To determine the genetic
TY - JOUR. T1 - Lipid and sterol gene sequence variation in autism and correlates with neurodevelopmental status. T2 - A pilot study. AU - Hall, Trevor A.. AU - Steiner, Robert D.. AU - Wright, Hollis. AU - Wilmot, Beth. AU - Roullet, Jean Baptiste. AU - Peters, Meaghan. AU - Harris, Michael. N1 - Funding Information: Research reported in this publication was also supported by National Center for Advancing Translational Sciences of the National Institutes of Health under award number UL1TR000128 . The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Funding Information: Research reported in this publication was supported by the Northwest Health Foundation under the Mark O. Hatfield Research Fellowship on Autism. The content is solely the responsibility of the authors and does not necessarily represent the official views of the Northwest Health Foundation. PY - 2015/9/1. Y1 - 2015/9/1. N2 - Objective: ...
There were more than one thousand soybean(Glycine max(L.) Merr)germplasms in Hubei province.In order to evaluate the genetic diversity of summer sowing soybean landraces from different agricultural divisions of Hubei,we analyzed allelic profiles at 28 simple-sequence repeat(SSR) loci of 92 accessions.The SSR loci produced 134 alleles,and each SSR loci could detect 2 to 9 alleles with an average of 4.78 alleles per loci.The highest averages of both genetic diversity index and alleles were all occurred in southwest division,and second one was Jianghan Plain division.More than 83.6% of total variation was produced by geographical differentiation.By using the cluster analysis with Within-groups Linkage method,92 landraces were classified into three major groups at DNA level.Many landraces from southwest division and Jianghan Plain were clustered in Ⅰand Ⅲ group respectively.It was suggested that the diversity level of soybean landrace from both southwest and Jianghan Plain division were higher than
Understanding genome to phenotype linkages has been greatly enabled by genomic sequencing. However, most genome analysis is typically confined to the nuclear genome. We conducted a metabolomic QTL analysis on a reciprocal RIL population structured to examine how variation in the organelle genomes affects phenotypic variation. This showed that the cytoplasmic variation had effects similar to, if not larger than, the largest individual nuclear locus. Inclusion of cytoplasmic variation into the genetic model greatly increased the explained phenotypic variation. Cytoplasmic genetic variation was a central hub in the epistatic network controlling the plant metabolome. This epistatic influence manifested such that the cytoplasmic background could alter or hide pairwise epistasis between nuclear loci. Thus, cytoplasmic genetic variation plays a central role in controlling natural variation in metabolomic networks. This suggests that cytoplasmic genomes must be included in any future analysis of natural ...
Soybean (Glycine max) cultivars adapted to high latitudes have a weakened or absent sensitivity to photoperiod. The purposes of this study were to determine the molecular basis for photoperiod insensitivity in various soybean accessions, focusing on the sequence diversity of the E4 (GmphyA2) gene, which encodes a phytochrome A (phyA) protein, and its homoeolog (GmphyA1), and to disclose the evolutionary consequences of two phyA homoeologs after gene duplication. We detected four new single-base deletions in the exons of E4, all of which result in prematurely truncated proteins. A survey of 191 cultivated accessions sourced from various regions of East Asia with allele-specific molecular markers reliably determined that the accessions with dysfunctional alleles were limited to small geographical regions, suggesting the alleles recent and independent origins from functional E4 alleles. Comparison of nucleotide diversity values revealed lower nucleotide diversity at non-synonymous sites in GmphyA1 than in
In this thesis, I combine molecular analyses, common-garden and field experiments to examine how evolutionary and ecological processes influence patterns of genetic variation among and within populations of the declining, insect-pollinated, self-incompatible, perennial herb Primula farinosa. More specifically I examined 1) whether genetic diversity at neutral marker loci was related to habitat fragmentation and habitat stability, 2) whether floral display and flowering time were more strongly differentiated among populations than were putatively neutral marker loci, 3) whether adaptive population differentiation could be detected on a local spatial scale, and 4) whether floral display differentially affected male and female reproductive success.. Genetic diversity at neutral marker loci was lower within fragmented populations on the Swedish mainland than within the more densely occurring populations on the island Öland, SE Sweden. On Öland, fluctuations in population size were more pronounced ...
This week, the MalariaGEN P. falciparum genetic crosses project released a new data resource, comprising whole-genome sequence and genetic variation data from the parents and offspring of three parasite crosses.. This open access resource provides a foundation for further research into how genetic variation and sexual recombination affects parasite biology, at a much higher resolution than previously possible. These data are being made available at a time of intense interest in studying the genetic basis for evolutionary changes in the malaria-causing P. falciparum parasite, such as the emergence and spread of antimalarial drug resistance.. A lot of progress has been made in recent years in mapping out variation in the P. falciparum genome, however there are still big gaps in our knowledge, including many genes that are relevant to vaccine development or drug resistance, explains Alistair Miles, Head of Informatics with the MRC Centre for Genomics and Global Health. These new data on the ...
HIV-1 sequence diversity is affected by selection pressures arising from host genomic factors. Using paired human and viral data from 1071 individuals, we ran ,3000 genome-wide scans, testing for associations between host DNA polymorphisms, HIV-1 sequence variation and plasma viral load (VL), while considering human and viral population structure. We observed significant human SNP associations to a total of 48 HIV-1 amino acid variants (p,2.4 × 10(-12)). All associated SNPs mapped to the HLA class I region. Clinical relevance of host and pathogen variation was assessed using VL results. We identified two critical advantages to the use of viral variation for identifying host factors: (1) association signals are much stronger for HIV-1 sequence variants than VL, reflecting the intermediate phenotype nature of viral variation; (2) association testing can be run without any clinical data. The proposed genome-to-genome approach highlights sites of genomic conflict and is a strategy generally ...
Theories of Population Variation in Genes and Genomes by Christiansen, Freddy Bugge available in Hardcover on, also read synopsis and reviews. This textbook provides an authoritative introduction to both classical and coalescent approaches to...
Leiopotherapon unicolor is the most widespread freshwater fish species in Australia. A comprehensive allozyme and mitochondrial DNA 16S rRNA data set was assembled from 141 specimens of L. unicolor collected Australia-wide in order to test for cryptic speciation in this far-ranging species. Surprisingly, little genetic diversity was observed within L. unicolor and provided no evidence for the existence of cryptic species within this lineage. In contrast, a small sample set of L. aheneus used as the outgroup showed two highly divergent haplotypes strongly suggestive of cryptic speciation. L. unicolor has a number of ecological and life history attributes that may explain the lack of significant genetic divergence over substantial geographical distances. The occurrence of other widespread fish and crustacean species that also display only limited genetic diversity indicate that climate conditions more favourable to dispersal across central and northern Australia than is suggested by the extent of ...
Studies on genetic variation can reveal effects on traits and disease, both in humans and in model organisms. Good technology for the analysis of DNA sequence variations is critical. Currently the development towards assays for large-scale and parallel DNA sequencing and genotyping is progressing rapidly. Single base primer extension (SBE) is a robust reaction principle based on four-colour fluorescent terminating nucleotides to interrogate all four DNA nucleotides in a single reaction. In this thesis, SBE methods were applied to the analysis and discovery of single nucleotide polymorphism (SNP) in the model organism Drosophila melanogaster and in humans.. The tag-array minisequencing system in a microarray format is convenient for intermediate sized genotyping projects. The system is scalable and flexible to adapt to specialized and novel applications. In Study I of the thesis a tool was established to automate quality control of clustered genotype data. By calculating Silhouette scores, the ...
Positive selection distorts the structure of genealogies and hence alters patterns of genetic variation within a population. Most analyses of these distortions focus on the signatures of hitchhiking due to hard or soft selective sweeps at a single genetic locus. However, in linked regions of rapidly adapting genomes, multiple beneficial mutations at different loci can segregate simultaneously within the population, an effect known as clonal interference. This leads to a subtle interplay between hitchhiking and interference effects, which leads to a unique signature of rapid adaptation on genetic variation both at the selected sites and at linked neutral loci. Here, we introduce an effective coalescent theory (a fitness-class coalescent) that describes how positive selection at many perfectly linked sites alters the structure of genealogies. We use this theory to calculate several simple statistics describing genetic variation within a rapidly adapting population and to implement efficient ...
Over the past several years, Genome Wide Association Studies (GWAS) have discovered hundreds of genetic variants involved in complex diseases(10.1056/NEJMra0905980). The vast majority of these variants do not lie in the protein coding regions of genes and thus do not affect what the gene produces, but instead likely affect how the genes are regulated. For this reason, the study of how genetic variation affect gene activity levels (referred to as expression levels) has been a major focus of research for many years. Genetic variation that affects gene expression are referred to as expression quantitative trait loci (eQTL)(10.1038/nrg2969).. Several studies collect expression from multiple tissues which leads to the question of whether or not the same genetic variants affect expression in multiple tissues(10.1038/ng.2653). Another way to ask this question is: Are eQTLs tissue specific or not tissue specific?. A challenge in this type of analysis is that an eQTL may affect expression in multiple ...
Genetic diversity of the human immunodeficiency virus type 1 (HIV-1) population within an individual is lost during transmission to a new host. The demography of transmission is an important determinant of evolutionary dynamics, particularly the relative impact of natural selection and genetic drift immediately following HIV-1 infection. Despite this, the magnitude of this population bottleneck is unclear. We use coalescent methods to quantify the bottleneck in a single case of homosexual transmission and find that over 99% of the env and gag diversity present in the donor is lost. This was consistent with the diversity present at seroconversion in nine other horizontally infected individuals. Furthermore, we estimated viral diversity at birth in 27 infants infected through vertical transmission and found there to be no difference between the two modes of transmission. Assuming the bottleneck at transmission is selectively neutral, such a severe reduction in genetic diversity has important implications
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So traits that have large additive genetic components are more easily changed by selection. The authors set out to investigate the genetic basis of gene expression level in Drosophila (for many genes measured on array) and how this differs between males and females. By a series of crosses, the authors find that many more genes show additive genetic variation in their expression level in males than in females, and that a number of these genes are found on the X chromosome (as well as on the autosomes). Now the X chromosome seems to be be the key to this difference in the form of genetic variation (and the authors conduct further experiments to show this). As males have only a single X chromosome there simply is not any dominance due to genetic variation on the X chromosome (at least not simple non-epistatic dominance). The genetic variation on the X chromosome in males mainly contributes to the additive genetic component of variation (as there is no second allele to cause dominance). So genes on ...
October 3, 2004. October 3, 2004 - In a paper published today in the online edition of Nature Genetics, a deCODE-led team of scientists present the results of a large-scale population study linking recombination rate with maternal age and fertility. In the paper, entitled Recombination rate and reproductive success in humans, the deCODE team establish a novel and significant correlation between recombination - the shuffling of chromosomal material that takes place in the formation of eggs and sperm - and maternal age and fertility. Specifically, the average number of recombinations in eggs that go on to become successful live births tends to increase with the mothers age, and mothers with a higher recombination rate in general also tend to have more children than do those with a lower recombination rate. The authors conclude that the most likely explanation for this phenomenon is that recombination, which is one of the most important mechanisms for generating genetic diversity in ...
Cancer cells are intrinsically heterogeneous. Multiple clones with their unique variants co-exist in tumor tissues. The variants include point mutations and structural variations. Point mutations, or single nucleotide variants are those variants on one base; structural variations are variations involving sequence with length not smaller than 50 bases. Approaches to estimate the number of clones and their respective percentages from point mutations have been recently proposed. However, structural variations, although involving more reads than point mutations, have not been quantitatively studied in characterizing cancer heterogeneity. I describe in this thesis a maximum likelihood approach to estimate variant allele fraction of a putative structural variation, as a step towards the characterization of tumor heterogeneity. A software tool, BreakDown, implemented in Perl realizing this statistical model is publicly available. I studied the performance of BreakDown through both simulated and real ...
The WHI GWAS examines the genome, which is the individuals complete set of DNA, of women who have participated in WHI to see if there are genetic variations associated with a particular disease. To do this, the genomes of women with a particular disease are compared to similar women without the disease. If certain genetic variations are seen in participants with the disease compared to those without, the variations are said to be associated with the disease. The genetic variations themselves do not necessarily cause the disease, but may put individuals with the variant at increased risk. Other influences (diet, smoking, environment) may also be important factors that work along with genetic variations to influence risk. Once new genetic associations are identified, it may be possible to use the information to detect, treat, and prevent the disease. We hope to learn much more about this using the WHI blood samples. ...
Genetic variation in three Iranian pelt sheep breeds namely: Gray Shiraz, Zandi and Karakul were investigated using fifteen microsatellite loci. Genomic DNA was extracted from 360 blood samples by extraction kits and salting-out procedure with some modifications. The total number of alleles ranged from 6 to12 in loci. The fifteen tested loci were all polymorphic in the three breeds. The average direct count of heterozygosity overall loci in each tested breed was more than the expected heterozygosity. Tests of genotype frequencies for deviation from the Hardy-Weinberg equilibrium (HWE) were performed at each locus of overall breeds and revealed significant departure from HWE (P , 0.001) due to heterozygote excess. Polymorphism information content value in Gray Shiraz, Zandi and Karakul were 0.815, 0.808 and 0.808, respectively. Rate of inbreeding within the three breeds was not noticeable (global Fis = - 0.19). Low genetic differentiation was detected by estimation of Fst index between all pairs ...
In 1974, Richard Lewontin published The Genetic Basis of Evolutionary Change, focusing enormous attention on protein variation as both a model of underlying genetic variation and a level of selection itself. In the twenty years since, scientific research has been shifted by the power of molecular biological techniques to explore the nature of variation directly at the DNA and gene levels. The protein chapter is coming to a close. In this book, Jeff Mitton explains the questions that geneticists hoped to answer by studying protein variation. He reviews the extensive literature on protein variation, describes the successes and failures of the research program, and evaluates the results of a rich and controversial body of research. The laboratory and field studies using protein polymorphisms revealed dynamic interactions among genotypes, fitness differentials, and fluctuating environmental conditions, and inadvertently wedded the fields of physiological ecology and population biology. Mittons book is a
The most important biological role of meiosis compared with asexual reproduction is providing genetic diversity of individuals as a result of mixing of paternal and maternal genes in the gamete. This is achieved in two ways.. Firstly, in the first division of meiosis the distribution of paternal and maternal chromosomes into the daughter cells is random, which results in gametes bearing different combinations of parental chromosomes (Smith and Nicolas 204). The second fundamental mechanism for the maintenance of genetic diversity is that in the initial phase of the first meiotic division homologous chromosomes are arranged opposite to each other and couple, forming one or more areas of contact (chiasm) between individual unsisterly chromatids. Next, the pair of chromatids that formed chiasm exchanges the sections of DNA (crossing-over process). As a result of crossing-over recombinant chromosomes are formed consisting of sections originating from different parent lines. Upon the completion of ...
After the recent discovery that common genetic variation in 15q24-25.1 influences inherited risk of lung cancer (3-7), we identified a second sequence variant at 15q24-25.1 associated with familial lung cancer (8) and further validated this new association in large sporadic lung cancer populations. We showed that these two genetic variants on 15q24-25.1 have independent genetic effects on lung cancer risk. The second variant on 15q24-25.1, marked by rs481134, explains an additional 13.2% of the population attributable risk for lung cancer. These results further confirm the complexity of the chromosomal region 15q24-25.1 underlying lung cancer susceptibility.. Interestingly, the second variant did not show association with lung cancer in single-marker analysis. However, haplotype analysis of SNPs rs1051730 and rs481134 provided stronger evidence for association with lung cancer. SNPs rs1051730 and rs481134 are in moderate LD (r2 = 0.30), which can mask or change the genetic effects of those loci ...
The distribution of variation in a quantitative trait and its underlying distribution of genotypic diversity can both be shaped by stabilizing and directional selection. Understanding either distribution is important, because it determines a populations response to natural selection. Unfortunately, existing theory makes conflicting predictions about how selection shapes these distributions, and very little pertinent experimental evidence exists. Here we study a simple genetic system, an evolving RNA enzyme (ribozyme) in which a combination of high throughput genotyping and measurement of a biochemical phenotype allow us to address this question. We show that directional selection, compared to stabilizing selection, increases the genotypic diversity of an evolving ribozyme population. In contrast, it leaves the variance in the phenotypic trait unchanged. ...
Genetic diversity Genetic variability Human genetic variation "What is genetic variation?". EMBL-EBI Train online. 2017-06-05. ... "Genetic Variation" in Griffiths, A.J.F. Modern Genetic Analysis, Vol 2., p. 7 "How is Genetic Variation Maintained in ... Genetic variation can be divided into different forms according to the size and type of genomic variation underpinning genetic ... Genetic variation can be identified at many levels. Identifying genetic variation is possible from observations of phenotypic ...
Genetic variation may refer to Genetic diversity Genetic variability Genetic variance Genetic variation Genetic variant ( ... This disambiguation page lists articles associated with the title Genetic variation. If an internal link led you here, you may ...
... is the genetic differences in and among populations. There may be multiple variants of any given gene ... When copy number variation is included, human-to-human genetic variation is estimated to be at least 0.5% (99.5% similarity). ... Structural variation is the variation in structure of an organism's chromosome. Structural variations, such as copy-number ... in Europe Genetic history of Europe Genetic history of indigenous peoples of the Americas Genetic history of South Asia Genetic ...
"Huge genetic variation in healthy people". New Scientist. 7 August 2004. Carter NP (September 2004). "As normal as normal can ... Copy number variations were generally associated only with small tandem repeats or specific genetic disorders, therefore, copy ... Copy number variations appear to be higher in brain cells than in other cell types. A likely source of copy number variation is ... It was thought that these large-scale chromosomal rearrangements give rise to normal variation and genetic diseases, including ...
Human Genetic Variation". Science. 318 (5858): 1842-1843. doi:10.1126/science.318.5858.1842. PMID 18096770. Vogel, Gretchen ( ... Human genetic variation Reprogramming cells High-energy cosmic rays Receptor visions Beyond silicon: oxide interfaces Quantum ... Genomes Project an international research effort to establish by far the most detailed catalogue of human genetic variation. ...
This narrowing of phenotypes causes a reduction in genetic diversity in a population. Maintaining genetic variation is ... "Low genetic variation". Retrieved 2018-05-13. Linnen CR, Hoekstra HE (2009). "Measuring natural ... "Reconciling strong stabilizing selection with the maintenance of genetic variation in a natural population of black field ... "Variation in Clutch Sizes". Retrieved 2018-05-13. "A Simple Definition and Prominent Examples of Stabilizing ...
Pennisi, Elizabeth (2007). "Human Genetic Variation". Science. 318 (5858): 1842-1843. doi:10.1126/science.318.5858.1842. PMID ... A set of aAIMs can be used to identify the ancestry of ancient populations and eventually quantify the genetic similarity to ... NGS enables the study of genetic markers by isolating specific gene sequences. One such method for sequence extraction is the ... Though AIM panels can be useful for disease screening, the Genetic Information Nondiscrimination Act (GINA) prevents the use of ...
Human Genetic Variation". Science. 318 (5858): 1842-1843. doi:10.1126/science.318.5858.1842. PMID 18096770. Gretchen Vogel ( ... Human genetic variation 2008: Cellular reprogramming 2009: Ardipithecus ramidus 2010: The first quantum machine 2011: HIV ...
... area Evolutionary biology portal Biodiversity Center of diversity Genetic variation Genetic resources Human genetic variation ... Random mutations consistently generate genetic variation. A mutation will increase genetic diversity in the short term, as a ... Genetic diversity is the total number of genetic characteristics in the genetic makeup of a species, it ranges widely from the ... It is distinguished from genetic variability, which describes the tendency of genetic characteristics to vary. Genetic ...
"European Genetic Variation". Online maps. Archived from the original on 5 December 2006. Collins, Roger (1990). The Basques ( ... Along the same lines, a genetic study carried out in 2001 revealed that the Y-chromosome of Celtic populations do not differ ... Juan Lizariturry from Uppsala University in Sweden analysed genetic material from eight Stone Age human skeletons found in El ... Throughout this region, which underwent similar cultural developments with some local variation, Aurignacian culture was ...
Nonlethal mutations accumulate within the gene pool and increase the amount of genetic variation. The abundance of some genetic ... In the neutral theory of molecular evolution, neutral mutations provide genetic drift as the basis for most variation at the ... Mutation is the ultimate source of all genetic variation, providing the raw material on which evolutionary forces such as ... A 2007 study on genetic variations between different species of Drosophila suggested that, if a mutation changes a protein ...
His research investigates genetic variation and adaptation through the analysis of nucleotide variation within natural ... Keightley was educated at the University of Edinburgh where he was awarded a PhD in 1989 for research on genetic variation ... Barton, N. H.; Keightley, P. D. (2002). "Understanding quantitative genetic variation". Nature Reviews Genetics. 3 (1): 11-21. ... subscription required) Keightley, Peter (1988). Studies of quantitative genetic variation (PhD thesis). University of Edinburgh ...
Genetic variation Georgitsi, Marianthi; Viennas Emmanouil; Antoniou Dimitris I; Gkantouna Vassiliki; van Baal Sjozef; Petricoin ... FINDbase was founded in 2006 to be a relational database for these frequencies of causative genetic variations of inherited ... The Frequency of INherited Disorders database (FINDbase) is a database of frequencies of causative genetic variations worldwide ... a worldwide database for genetic variation allele frequencies updated". Nucleic Acids Res. 39 (Database issue): D926-32. doi: ...
"Selection, nuclear genetic variation, and mtDNA". john hawks weblog. 5 September 2005. Retrieved 2011-01-05. Thorne, A.G.; ... Thorne, A.G.; Wolpoff, M. H.; Eckhardt, R.B. (1993). "Genetic variation in Africa". Science. 261 (5128): 1507-1508. Bibcode: ... "Variation in NAT1 and NAT2". john hawks weblog. 15 January 2006. Retrieved 2011-01-04. Garrigan, D.; Mobasher, Z.; Severson, T ... 2010-12-23). "Genetic history of an archaic hominin group from Denisova Cave in Siberia". Nature. 468 (7327): 1053-60. Bibcode: ...
... intra-clonal genetic variation; rapid evolution in insect populations due to various genetic-ecological mechanisms; population ... underwent increased genetic variation, so did that of its parasitoid. This suggested a fine-grained co-evolutionary tracking to ... 2010) Rapid genetic changes in natural insect populations. Ecological Entomology (special issue) 35, 155-164. Biron DG, Loxdale ... Loxdale has written reviews on absence of strict genetic uniformity in populations of clonal organisms such as aphids. This ...
With continuous inbreeding, genetic variation is lost and homozygosity is increased, enabling the expression of recessive ... Inbreeding is especially problematic in small populations where the genetic variation is already limited. By inbreeding, ... There are genetic assays being scheduled for lions to determine their genetic diversity. The preliminary studies show results ... Ramel, C (1998). "Biodiversity and intraspecific genetic variation". Pure and Applied Chemistry. 70 (11): 2079-2084. CiteSeerX ...
ISBN 0-306-48484-6. Prescott, J.; Tepper, Beverly J. (2004). Genetic Variation in Taste Sensitivity. CRC Press. ISBN 0203023439 ... Genetic and Environmental Variation in Taste: Associations With Sweet Intensity, Preference, and Intake. Topics in Clinical ...
Retrieved 2006-04-30.{{cite web}}: CS1 maint: unfit URL (link) Mastana, Sarabjit (November 1996). "Genetic variation in Sri ... The Nei genetic distance for Sinhalese and Moors is 0.0123, SL Tamil and Moors is 0.0233 while Indian Tamil and Moors 0.0293. ... According to the genetic distance calculated the Moors were closest to Sinhalese and then Sri Lankan Tamil with a significant ... 2021) in their genetic analysis of the Moors stated the following in their report: "In contrast, Sri Lankan Moors have ...
Papiha, S.S.; Mastana, S.S.; Jaysekara, R. (October 1996). "Genetic Variation in Sri Lanka". Human Biology. 68 (5): 707-737 [ ...
Chivers, S. J.; Leduc, R. G.; Robertson, K. M.; Barros, N. B.; Dizon, A. E. (2006). "Genetic Variation of Kogia spp. with ... The variation can either be due to loss of bones during preparation of a specimen, or individual variations. It is not known to ... Genetic testing in 2006 suggests that K. sima may actually represent two species, one in the Atlantic and one in the Indo- ... Dunphy-Daly, M. M.; Heithaus, M. R. (2007). "Temporal Variation in Dwarf Sperm Whale (Kogia sima) Habitat Use and Group Size ...
Jorde, Lynn B.; Wooding, Stephen P. (2004). "Genetic variation, classification and 'race'". Nature. 36 (11 Suppl): S28-S33. doi ... Ancestry, then, is a more subtle and complex description of an individual's genetic makeup than is race. This is in part a ... "Why Your Race Isn't Genetic". Pacific Standard. Retrieved 13 December 2014. [O]ngoing contacts, plus the fact that we were a ... with variation depending on author. René Lesson in 1847 presented a division into six groups based on simple color adjectives: ...
Craddock, EM; Johnson, WE (March 1979). "Genetic Variation in Hawaiian Drosophila. V. Chromosomal and Allozymic Diversity in ... There is some variation in the number of male tibial bristles, as 20-30 extra bristles can be found in the middle of the two ... Both of these fly species are native to Hawaii, and genetic similarities such as the sharing of a unique inversion in ... Genetic and phylogenetic relationships of natural populations of D. silvestris and D. heteroneura". Heredity. 56 (1): 87-96. ...
A study looking at genetic variation of the FUT2 gene in the Sinhalese and Sri Lankan Tamil population, found similar genetic ... Another study has also found "no significant genetic variation among the major ethnic groups in Sri Lanka". This is further ... July 2015). "Global analysis of genetic variations in a 56-bp variable number of tandem repeat polymorphisms within the human ... Mastana, Sarabjit (November 1996). "Genetic variation in Sri Lanka". Scientific Reports: 26-27. Soejima M, Koda Y (December ...
Jorde, Lynn B; Wooding, Stephen P (2004). "Genetic variation, classification and 'race'". Nature Genetics. 36 (11s): S28-S33. ... Due to variation in geographical and ethnic background and the loci chosen to genotype there is some 2.4% variation expected. ... Coefficient of relationship Cognatic kinship Cousin marriage in the Middle East Endogamy Exogamy Genetic distance Genetic ... The extent to which the risk increases depends on the degree of genetic relationship between the parents; so the risk is ...
Seed production provides genetic variation. Micropropagation of Albuca bracteata has been achieved. Bulblet production was ...
Early studies argued that 85-90% of the genetic variation is found within individuals residing in the same populations within ... Jorde, Lynn B; Wooding, Stephen P (2004). "Genetic variation, classification and 'race'". Nature Genetics. 36 (11s): S28-33. ... It is well established that the genetic diversity among human populations is low, although the distribution of the genetic ... This correlation is influenced by several evolutionary processes, such as genetic drift, founder effect, bottleneck, genetic ...
2013 "Genetic Variation + Human Health" 2012 "ECCB'12, 11th European Conference on Computational Biology" in association with ... "Genetic Variation and Human Health". "European Conference on Computational Biology 2012". "Multiscale Modeling". "Regulation ...
"Genetic variation, classification and 'race'". Nature Genetics. 36 (11 Suppl): S28-S33. doi:10.1038/ng1435. PMID 15508000. ... Genetic studies shows that Central Asian Turkic people and Hazara are a mixture of Northeast Asians and Indo-European people. ... According to genetic research, most Brazilians of all racial groups (except Asian-Brazilians and natives) are, to some extent, ... According to a recent genetic study in 2019, North African populations are composed of admixture of extensive gene flow from ...
Weiner, Michael P; Gabriel, Stacey B; Stephens, J Claiborne (2007). Genetic Variation: a Laboratory Manual. Cold Spring Harbor ... As a concerted effort has been made to breed out genetic abnormalities, there are no especially common conditions affecting the ...
Craddock, Elysse M.; Johnson, Walter E. (1979). "Genetic Variation in Hawaiian Drosophila. V. Chromosomal and Allozymic ... any similarly noticeable variation or change of form, such as an opening in a forest, or a clear place in a congested setting, ...
... as there are significant variations in the appearance and genetic studies have shown clear differences between those from the ... Tuira River of Panama and the Atrato River of Colombia (genetic data is lacking for other populations). Adults have an ...
Variation in length of legs and bills enables multiple species to feed in the same habitat, particularly on the coast, without ... there are enough genetic differences to warrant their placement in a separate family. Leach's storm-petrel, Hydrobates ...
Because of variation in artwork elsewhere, the artwork of early Assur was also highly variable depending on the time period, ... Assyrian continuity is generally scholarly accepted based on both historical and genetic evidence in the sense that the modern ...
Soft markers are variations from normal anatomy, which are more common in aneuploid fetuses compared to euploid ones. These ... the ISUOG recommends that pregnant patients who desire genetic testing have obstetric ultrasounds between 11 weeks' and 13 ...
Some people have common variations of the MDA-5 gene that could make them more susceptible to norovirus infection. Viruses in ... Vinjé J, Green J, Lewis DC, Gallimore CI, Brown DW, Koopmans MP (2000). "Genetic polymorphism across regions of the three open ... which can be further divided into different genetic clusters or genotypes. Noroviruses commonly isolated in cases of acute ...
Copy-number variations (CNVs) are an abundant form of genome structure variation in humans. A discrete-valued bivariate HMM ( ... and in particular genetic information. They have since become an important tool in the probabilistic modeling of genomic ... "Systematic prediction and validation of breakpoints associated with copy-number variations in the human genome". Proceedings of ...
However, genetic studies suggest that they consist of several separate groups descended from the same ancient East Eurasian ... Our interpretations of negrito origins and adaptation must account for this phenotypic variation. Zhang, Xiaoming; Liu, Qi; ... February 2022). "Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia". Molecular Biology and ... Yang, Melinda A. (6 January 2022). "A genetic history of migration, diversification, and admixture in Asia". Human Population ...
... analyses studies have reported that EPS tumor cells in some individuals have copy number variations such as loses of genetic ... No specific genetic alterations have been as yet been clearly associated with the tumor cells in individuals diagnosed with IPC ... and gains of genetic material in the q arm of chromosome 1. Studies have also identified individuals with EPS tumors that have ... material in the q (i.e. long) arm of chromosome 16, gains of genetic material in the p (or short) arm of chromosome 16, ...
Variation in Antiviral Protection Mediated By Different Wolbachia Strains in Drosophila simulans. PLOS. 11: e1000656-e1000656. ... Such progeny often have reduced fitness due to increased genetic homozygosity leading to expression of deleterious recessive ... Jallon, Jean-Marc; David, Jean R. (1987). "Variations in Cuticular Hydrocarbons Among the Eight Species of the Drosophila ...
September 2009). "Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy". PLOS ONE. 4 ( ... revealed substantial variation in α-synuclein protein deposition across both cases and brain regions within cases, providing ... The study concluded that these repeats were absent in pathologically confirmed MSA, suggesting an alternative genetic cause. ... likely reflecting heterogeneity of the disease in different genetic backgrounds."[clarification needed] Another study ...
These genetic modifications usually aim to reduce the amount of energy used to produce the product, increase yields and reduce ... July 2005). "Diel variations in carbon metabolism by green nonsulfur-like bacteria in alkaline siliceous hot spring microbial ... Several variations on this basic structure exist, including backbones such as sphingosine in sphingomyelin, and hydrophilic ... Nucleic acids are critical for the storage and use of genetic information, and its interpretation through the processes of ...
A hypothesis for the origin of this genetic variation states that the host-defense system responsible for silencing foreign DNA ... Natural selection for genomic imprinting requires genetic variation in a population. ... The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and ... It is an epigenetic process that involves DNA methylation and histone methylation without altering the genetic sequence. These ...
For example, there are two genetic variations that can lead to male sterility in S. latifolia: if it possesses two Y ... leaving most of the genetic material in the Y chromosome intact. Several studies concentrated on Silene latifolia have shown a ... of possible sex-related genes that an individual Silene can have in one Y chromosome are what creates the rich variation of ...
... coli to Elephants This chapter tells the tale of the genetic code, and the lac operon, showing that the environment and genetic ... Such variation is brought about by alterations in genes that control how cells in the developing embryo behave. Thus one cannot ... Evidently, a genetic switch could be reused for different purposes. 9. Paint It Black Carroll looks at zebra stripes, ... Most of the changes are in genetic control, not in proteins. 11. Endless Forms Most Beautiful Carroll concludes by revisiting ...
As much as 90% of the genetic material can be lost when a species makes the evolutionary transition from a free-living to an ... For reasons of conceptual clarification, the various puzzles that remain with regard to genome size variation instead have been ... This process seems to be dominated by genetic drift resulting from small population size, low recombination rates, and high ... Wernegreen, J. J.; Moran, N. A. (1999-01-01). "Evidence for genetic drift in endosymbionts (Buchnera): analyses of protein- ...
Fletcher, D. E.; Dakin, E. E.; Porter, B. A.; Avise, J. C. (2004). "Spawning behavior and genetic parentage in the pirate perch ... and variation in fish avoidance in colonizing beetles" (PDF). Ecology. 97 (12): 3517-3529. doi:10.1002/ecy.1593. PMID 27912024 ...
Bergmann, along with her team (collectively known as "The Bergmann Lab"), use a large variety of genetic, genomic and imaging ... methods to inquire into different variations of cell development, and they are also examining gene expression in singular cells ...
Variations in maternal care, such as maternal licking and grooming, indicates reduced HPA axis reactivity in subsequent ... Small non-coding RNAs may serve as a potential mechanism for stress-related genetic changes in offspring. Mouse models of ... Epigenetic modification in response to stress results in molecular and genetic alterations that in turn results in mis- ...
Here, DNA fragmentation is a molecular genetic technique that permits researchers to use recombinant DNA technology to prepare ... and manipulation of purified DNA fragment There are numerous experimental variations to this scheme, but these steps are ...
2011). "In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of ... Other scholars have proposed historical and genetic links between the Marsh Arabs and the ancient Sumerians due shared ...
"Interactive Influence of N6AMT1 and As3MT Genetic Variations on Arsenic Metabolism in the Population of Inner Mongolia, China ...
"Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance". Nature. 461 (7262): 399-401. Bibcode: ... However, virus-encoded genetic elements have the ability to antagonize the IFN response contributing to viral pathogenesis and ...
... collaborations with both Laboratory Corporation and Quest Diagnostics to develop a solution for scoring genetic variation for ...
Methods and systems for detecting genetic variants, (2015). Methods to detect rare mutations and copy number variation, (2016 ... Philippidis, Alex (14 Jan 2019). "Guardant Health Launches Blood-Based Early Cancer Assay for Research Use". Genetic ... EP 2893040, Talasaz, AmirAli & Eltoukhy, Helmy, "Methods to detect rare mutations and copy number variation", published 2016-11 ... EP 3087204, Eltoukhy, Helmy & Talasaz, AmirAli, "Methods and systems for detecting genetic variants", published 2015-07-15, ...
2012). "An integrated map of genetic variation from 1,092 human genomes". Nature. 491 (7422): 56-65. Bibcode:2012Natur.491... ... Identifying the locations of genes and other genetic control elements is often described as defining the biological "parts list ... For DNA annotation, a previously unknown sequence representation of genetic material is enriched with information relating ...
June 1998). "Genetic relationship of Prunus yedoensis, native and cultivar, based on internal transcribed spacer sequences of ... Most characters of king cherry were smaller in size than those of Yoshino cherry although the limits of variation of the ... nudiflora as it deserves to be a separate variety from Yoshino cherry according to the variations observed.[Note 1] Although ... nudiflora from Yoshino cherry when he proposed a new variation Prunus yedoensis var. nudiflora. According to Park Man-Kyu (1965 ...
Some cases of many genetic diseases are associated with variations in promoters or transcription factors. Examples include: ... Variations in promoters or transcription factors cause some diseases. Misunderstandings can result from using canonical ... Wikimedia Commons has media related to Genetic promoter regions. ORegAnno - Open Regulatory Annotation Database Identifying a ... Promoters are important gene regulatory elements used in tuning synthetically designed genetic circuits and metabolic networks ...
These genetic abnormalities occur during the prenatal stage of an individuals' fetal development. During this stage, genetic ... DSDs caused by chromosomal variation generally do not present with genital ambiguity. This includes sex chromosome DSDs such as ... Genetic abnormalities or environmental factors that influence these procedures may lead to the incomplete development of the ... This helps classify the patient in one of the three main categories of DSD: chromosomal variation, gonadal development ...
The variation observed in range size is a result of the different ecological requirements of each species and their ability to ... Baker, C. S.; Cipriano, F.; Palumbi, S. R. (1996). "Molecular genetic identification of whale and dolphin products from ... Mangel, J. C.; Whitty, T.; Medina-Vogel, G.; Alfaro-Shigueto, J.; Cáceres, C.; Godley, B. J. (2010). "Latitudinal variation in ... doi:10.1111/j.1748-7692.1999.tb00857.x. Hutchins, J. (1996). "Spatial and temporal variation in the density of northern cod and ...
Elens L, Vandercam B, Yombi JC, Lison D, Wallemacq P, Haufroid V (September 2010). "Influence of host genetic factors on ... "Allelic variations in CYP2B6 and CYP2C19 and survival of patients receiving cyclophosphamide prior to myeloablative ... and CYP2B6 genetic polymorphisms on the induction of bupropion hydroxylation by rifampin". Drug Metabolism and Disposition. 39 ...
The higher the FST the greater the proportion of genetic variation which can be attributed to between population differences, ... To provide a more extensive and complete sampling of human genetic variation, we have… ... but characterization of genetic variation and of relationships among populations across the continent has been enigmatic. We ... Dienekes points me to a new paper, Fine-scaled human genetic structure revealed by SNP microarrays: We report an analysis of ...
... the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe ... By characterizing the geographic and functional spectrum of human genetic variation, ... Genetic variation within and between populations. The integrated data set provides a detailed view of variation across several ... Recent efforts to map human genetic variation by sequencing exomes1 and whole genomes2,3,4 have characterized the vast majority ...
Genetic scent signals. Nature has created a special protection against dangerous reduction of genetic variation in the MHC gene ... It would be too harmful to the development of our basic organs to have too much genetic variation in the genetic systems ... will not preserve genetic variation in all gene systems. In some cases there is need for genetic stability. As living creatures ... Normally there is genetic variation in systems responsible for body size and form, colour, length and thickness of the fur and ...
Two genetic variations associated with primary open-angle glaucoma involve genes on chromosomes 9 and 8 that may interact with ... The investigators identified genetic variations associated with POAG, including NPG. These are the first genetic variations ... April 30, 2012 - Two genetic variations associated with primary open-angle glaucoma (POAG) involve genes on chromosomes 9 and ... Cite this: Primary Open-Angle Glaucoma Linked to 2 Genetic Variations - Medscape - Apr 30, 2012. ...
Genetic Distribution and Variation. The cause of frontotemporal lobe dementia (FTD) is unknown, but, as discussed earlier, ... The genetic test for APOE-4 is less useful in FTD than in Alzheimer disease. A study by Mesulam et al found no association ... What is the genetic distribution of frontotemporal dementia (FTD)?. What is the prevalence of frontotemporal dementia (FTD) in ... Finally, a genetic disease with combined inclusion body myopathy and FTD has been described. [32] ...
International Programme on Chemical Safety; IPCS Workshop on Incorporating Uncertainty and Variability into Risk Assessment (‎2000 : Berlin, Germany)‎ (‎World Health OrganizationWorld Health Organization, 2005)‎ ...
... ... 2002)‎. Identification of Genetic Variation among Dengue Virus DEN-4 Isolates with Heteroduplex Analysis.. WHO Regional Office ...
A curated database of genes associated with dietary restriction in model organisms either from genetic manipulation experiments ...
Research in human and animal models points to potential biological and genetic mechanisms contributing to the diversity of ...",Genetic Variation and The Diverse Range of Behaviors in Autism ... Genetic Variation and The Diverse Range of Behaviors in Autism. Published: 2022-11-10. Author: Society for Neuroscience , ... Genetic Variation and The Diverse Range of Behaviors in Autism , Society for Neuroscience ( Disabled World makes no ...
Single-gene resolution of locally adaptive genetic variation in Mexican maize. Daniel J Gates, Dan Runcie, Garrett M. Janzen, ... We further identify genetic associations with environment across Mexico and show that such loci are associated with variation ... Single-gene resolution of locally adaptive genetic variation in Mexican maize Message Subject (Your Name) has forwarded a page ... While considerable adaptive variation exists in traditional landraces, natural populations of crop wild relatives, and ex situ ...
... ... also lead to lung cancer by generating free radicals which are molecules that disrupt the copying of genes and cause genetic ... study by scientists at the National Institute of Environmental Health Sciences indicates that a human gene variation that ...
... ... "Patterns of phenotypic and genetic variation in three species of endemic Mesoamerican Peromyscus (Rodentia: Cricetidae)," ... "Patterns of phenotypic and genetic variation in three species of endemic Mesoamerican Peromyscus (Rodentia: Cricetidae)," ... We investigated if previously proposed phenetic relationships among these 3 taxa were supported by morphometric and genetic ...
Genetic and Environmental Control of Variation in Retinal Ganglion Cell Number in Mice. Robert W. Williams, Richelle C. Strom, ... Genetic factors are most important in controlling this variation; 76% of the variance is heritable and up to 90% is ... How much of the remarkable variation in neuron number within a species is generated by genetic differences, and how much is ... Genetic and Environmental Control of Variation in Retinal Ganglion Cell Number in Mice ...
Genetic variations may modify cardiovascular benefit of aspirin ... Genetic variations may modify cardiovascular benefit of aspirin ... Now, a new study suggests that common genetic variation in the gene for catechol-O-methyltransferase (COMT) may modify the ... the investigators also wanted to learn if genetic variation in COMT would influence aspirins potential benefit. ... "This is one of the few cases where you can identify a single genetic polymorphism which has a significant interaction with ...
The objective of the present study was to assess the level of genetic variation in populations of P. mariana × P. rubens ... This confirms the genetic closeness of P. mariana and P. rubens species. ... The objective of the present study was to assess the level of genetic variation in populations of P. mariana × P. rubens ... Genetic Variation in Picea mariana × P. rubens Hybrid Populations Assessed with ISSR and RAPD Markers () ...
Genetic Variation of SARS Coronavirus in Beijing Hospital On This Page Materials and Methods Results Discussion Cite This ... The genetic variation of SARS-CoV remains limited in relation to many other RNA viruses such as HIV-1, HCV, and MHV. The ... Genetic Variation of SARS Coronavirus in Beijing Hospital. Emerging Infectious Diseases. 2004;10(5):789-794. doi:10.3201/ ... Xu, D., Zhang, Z., Chu, F., Li, Y., Jin, L., Zhang, L....Wang, F. (2004). Genetic Variation of SARS Coronavirus in Beijing ...
... discovered a novel role for a cancer-causing gene in controlling an important genetic process that underpins genetic variation ... A group of researchers discovered a novel role for a cancer-causing gene in controlling an important genetic process that ... Study finds cancer-causing gene regulates genetic variation in prostate cancer. ANI , Updated: Oct 01, 2022 15:26 IST ... discovered a novel role for a cancer-causing gene in controlling an important genetic process that underpins genetic variation ...
Genetic variation between ES cell lines and their derivative animal models can distort experimental outcomes. How can you avoid ... Genetic Variation in C57BL/6 ES Cells and Kno.... Genetic Variation in C57BL/6 ES Cells and Knockout Mice. Philip Dubé, PhD. ... Control for genetic variation that may have been introduced into your knockout line and verify genetic background by SNP ... more recent studies have identified considerable genetic variation within C57BL/6 substrains (Figure 2)6. This known variation ...
The paternally inherited Y chromosome displays the population genetic history of males. While modern domestic horses (Equus ...
The analysis revealed a substantial impact of genetic variation acting on drug biotransformation, allowed mapping of potential ... The analysis revealed a substantial impact of genetic variation acting on drug biotransformation, allowed mapping of potential ... mouse reference population is a promising model for pharmacogenomic studies because of its large amount of genetic variation, ... mouse reference population is a promising model for pharmacogenomic studies because of its large amount of genetic variation, ...
... Luo, Z., Adluru, N ... Genetic and Environmental Influences of Variation in Diffusion MRI Measures of White Matter Microstructure. ... Genetic and environmental influences of variation in diffusion MRI measures of white matter microstructure. Alexander, PhD, A ... Genetic and environmental influences of variation in diffusion MRI measures of white matter microstructure ...
Genetic data strongly contradict inclusion of Chen canagica (emperor goose) within the genus Chen. Clangula hyemalis (oldsquaw ... Relationships were estimated using the resulting data from the patterns of allozyme variation and summarized in both phenetic ... with a starch-gel electrophoretic survey of protein variation at 25 loci. ... This study examines the genetic variation in 45 taxa of all tribes and most species of North American waterfowl (Anatidae) ...
... TOPICS:Cell BiologyGeneticsNew York University ... Be the first to comment on New Genetic Variations Discovered in Swimming Behavior of Sperm Cells. ... Some Sperms Poison Their Competitors: A Genetic Factor Helps Sperm Cells Outcompete Their Peers ... "Until now, the predominant view was that this variation in swimming behavior reflected the overall genetics of the male rather ...
Study finds a patchwork of genetic variation in the brain. Salk scientists find a surprising degree of variation among genomes ... Study finds a patchwork of genetic variation in the brain. Salk scientists find a surprising degree of variation among genomes ... Home - Salk News - Study finds a patchwork of genetic variation in the brain ... "Contrary to what we once thought, the genetic makeup of neurons in the brain arent identical, but are made up of a patchwork ...
Genetic Variation of Venezuelan Equine Encephalitis Virus Strains of the ID Variety in Colombia published on Jan 1988 by The ... Genetic Variation of Venezuelan Equine Encephalitis Virus Strains of the ID Variety in Colombia ... To determine the degree of genetic variation within one serologic group of Venezuelan equine encephalitis virus and the ... Thus, genetic relatedness within Venezuelan equine encephalitis strains in Colombia seems to be a function of geography rather ...
Low genetic variation support bottlenecks in Scandinavian red deer. Title. Low genetic variation support bottlenecks in ... Printed from /publications/low-genetic-variation-support-bottlenecks-scandinavian-red-deer on 09/12/22 02:29:06 AM ...
A novel role for a cancer-causing gene in controlling an important genetic process that underpins genetic variation in prostate ... A novel role for a cancer-causing gene in controlling an important genetic process that underpins genetic variation in prostate ... A novel role for a cancer-causing gene in controlling an important genetic process that underpins genetic variation in prostate ... Cancer-causing gene regulates genetic variation in prostate cancer: Research. ANI , Updated: Sep 27, 2022 23:35 IST ...
Genetic variations alter production and behavioral responses following heat stress in 2 strains of laying hens. ... Genetic variations alter production and behavioral responses following heat stress in 2 strains of laying hens.JPG (image/jpeg ... Genetic variations alter production and behavioral responses following heat stress in 2 strains of laying hens ... Genetic differences alter the type and degree of hensresponses and their ability to adapt to a stressor. This study examined ...
Lack of genetic variation in tree ring δ13C suggests a uniform, stomatally-driven response to drought stress across Pinus ... Genetic variation for carbon isotope composition in honey mesquite (Prosopis glandulosa). Tree Physiol. 19: 583-589. [PubMed] [ ... Genetic variation in growth, carbon isotope discrimination, and foliar N concentration in Picea mariana: analyses from a half- ... Genetic-variation in carbon isotope discrimination and its relationship to growth under field conditions in full-sib families ...
  • April 30, 2012 - Two genetic variations associated with primary open-angle glaucoma (POAG) involve genes on chromosomes 9 and 14 that may interact with transforming growth factor-beta (TGF-beta), according to the results of a study reported online April 26 in PLoS Genetics . (
  • A curated database of genes associated with dietary restriction in model organisms either from genetic manipulation experiments or gene expression profiling. (
  • Using GWAS, we further identify a large number of loci underlying the variation of responses to plant hormones, in particular to abscisic acid, find links between local adaptation and root responses to hormones, and finally using mutants for GWAS candidate genes, identify novel players involved in regulating hormone responses. (
  • To characterize genetic variation of severe acute respiratory syndrome-associated coronavirus (SARS-CoV) transmitted in the Beijing area during the epidemic outbreak of 2003, we sequenced 29 full-length S genes of SARS-CoV from 20 hospitalized SARS patients on our unit, the Beijing 302 Hospital. (
  • To characterize genetic variation among SARS-CoV transmitted in the Beijing area, we sequenced 29 full-length S genes of SARS-CoV from 20 hospitalized SARS patients, since S glycoprotein plays a key role in virus-host interaction and is predicted to be the main target of immune response ( 14 ). (
  • She said the enzyme may also lead to lung cancer by generating free radicals which are molecules that disrupt the copying of genes and cause genetic errors that can lead to cancer. (
  • These findings indicate that different alleles at one or two genes have major effects on normal variation in ganglion cell number. (
  • Alternative splicing is the process whereby segments of genes are shuffled to create different combinations of genetic code known as 'splice variants,' which provide the instructions to make proteins. (
  • Some rare mutations in genes are known to be risk factors for the condition, and a range of commonly occurring changes in DNA sequence have been linked to autism but only account for a small proportion of its genetic basis. (
  • The aim of this study was to investigate whether previous identified and studied genetic polymorphisms at DRD2, ANKK1, DRD3, HTR2A, HTR2C, RGS2, COMT, and BDNF genes are associated with antipsychotic-related parkinsonism in elderly patients.This cross-sectional study included 150 inpatients aged 65 years and older who were treated with haloperidol. (
  • To identify epilepsy risk signals, we tested all protein-coding genes for an excess of ultra-rare genetic variation among the cases, compared with control samples with no known epilepsy or epilepsy comorbidity sequenced through unrelated studies. (
  • For the individuals with familial non-acquired focal epilepsy, we found that five known epilepsy genes ranked as the top five genes enriched for ultra-rare deleterious variation. (
  • Interpretation We identified excess ultra-rare variation in known epilepsy genes, which establishes a clear connection between the genetics of common and rare, severe epilepsies, and shows that the variants responsible for epilepsy risk are exceptionally rare in the general population. (
  • I agree that my blood may be kept for future studies using my genes to help understand genetic links to medical conditions. (
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (
  • This study examines the genetic variation in 45 taxa of all tribes and most species of North American waterfowl (Anatidae) with a starch-gel electrophoretic survey of protein variation at 25 loci. (
  • Here, we summarise and critique the last 10 years or so of molecular genetic ( DNA -based) research on intelligence , including the discovery of genetic loci associated with intelligence , DNA -based heritability, and intelligence 's genetic correlations with other traits. (
  • Natural genetic variability in the human population may lead to the spectrum of behaviors associated with autism diagnosis and contribute to differential rates of diagnosis and symptomology in males and females. (
  • A knowledge of the drivers of genetic variability will help us understand the disease better, and improve treatments. (
  • Although high levels of FOXA1 reduced splicing variability, the team found that FOXA1 enhanced the inclusion of genetic segments into splice variants that are strong markers of prostate cancer recurrence. (
  • Dr Rajan said: "This study illustrates how we can exploit the power of genomics to make important scientific discoveries about how genetic variability in prostate cancer is controlled. (
  • Genetic analysis of a soybean genetic pool using ISSR marker: Effect of gamma radiation on genetic variability. (
  • Alternatively, small populations might exhibit larger variation in VA and QST if habitat fragmentation increases variability in habitat types. (
  • Human genome epidemiology is the basic science for translating genomic research, relating genetic variation with variability in health status among well-defined groups of people. (
  • Which type of selection leads to increased phenotypic and genetic variation quizlet? (
  • Directional selection causes an increase in phenotypic (and genetic) variance associated with each module (Fig. (
  • The Human Genome Variation Society (HGVS) has begun a grass-roots effort to compile a list of locus-specific databases (LSDBs), which are curated collections of mutations, often reported with associated phenotypic information ( 10 ). (
  • From this solid phenotypic foundation and importance for life , comes an interest in the environmental, social, and genetic aetiologies of intelligence , and in the foundations of intelligence differences in brain structure and functioning. (
  • By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. (
  • Recent efforts to map human genetic variation by sequencing exomes 1 and whole genomes 2 , 3 , 4 have characterized the vast majority of common single nucleotide polymorphisms (SNPs) and many structural variants across the genome. (
  • But if all cells get identical genomes there can be no genetic adaptation to changes in the environment. (
  • This novel variation extends the pattern of variation catalogued in the 1000 Genomes and Exome Sequencing Projects to a spectrum of populations representing the wide range of West African genomic diversity. (
  • Database of human genetic variants associated with longevity. (
  • The findings were published in the journal Cell Reports, revealing how the gene influences the generation of genetic variants in prostate cancer that may predict disease relapse and represent new drug targets to improve patient survival. (
  • By assessing alternative splicing in cell line models and primary cases of prostate cancer , the team found that high levels of FOXA1 limited genetic diversity towards splice variants that have a functional benefit for the cancer cells. (
  • there are numerous genetic variants between these two strains which could subtly affect experimental outcomes. (
  • Context: Biological and translational insights from large-scale, array-based genetic studies of fat distribution, a key determinant of metabolic health, have been limited by the difficulty in linking predominantly non-coding variants to specific gene targets. (
  • Sometimes these genetic variations, called copy number variants, are inherited from parents, while some appear for the first time in offspring. (
  • Scientists had wondered if some copy number variants that occur only rarely (in fewer than one in 100 people) might account for a significant proportion of autism's missing genetic component. (
  • By the 1990s, OMIM was adding more than 150 disease-related genetic variants per year, nearly all of them rare mutations discovered in families ( 1 ). (
  • There's also genetic variation within dengue virus types, with some variants showing higher levels of virulence. (
  • Research in human and animal models points to potential biological and genetic mechanisms contributing to the diversity of behaviors seen in autism. (
  • While the CC lines are phenotypically diverse, their genetic diversity in drug disposition processes, such as detoxification reactions, is still largely uncharacterized. (
  • These results are the first demonstration of genetic diversity in durum germplasm for FCR tolerance and they provide a basis for breeding for this trait. (
  • These individuals from CAAPA also comprise a large swath of the African Diaspora population and incorporate historical genetic diversity covering nearly the entire Atlantic coast of the Americas. (
  • In order to address this aspect, as well as to further understand relationships and geographic patterns, we carried out phylogenetic, genetic diversity, and population dynamic analyses using partial 18S rRNA and COI mtDNA sequences of Heligmosomoides specimens. (
  • Analyses focused on behavioral and genomic differences between sibling pairs reveal genetic locations that could prove relevant to autism-related social difficulties. (
  • Studies like those presented today confirm that autism is driven by sources of genetic variation that naturally exist in the human population," says Nicola Grissom, an assistant professor of psychology at the University of Minnesota who studies individual and sex differences in motivated behavior and executive function in mouse models. (
  • How much of the remarkable variation in neuron number within a species is generated by genetic differences, and how much is generated by environmental factors? (
  • This study is the first to demonstrate that genetic differences can directly affect the swimming behavior of sperm cells. (
  • It's been long established that sperm from different males vary in their characteristics because of the genetic differences between the males. (
  • Genetic differences alter the type and degree of hens'responses and their ability to adapt to a stressor. (
  • Introduction Genetic factors contribute to individual differences in physical activity, but it remains uncertain whether the magnitude of the genetic effects is modified by variations in home environments. (
  • Thus, we tested for genetic differences between African and European workers in their preference for tasks associated with brood production by monitoring individual African and European workers cross-fostered in common colony environments. (
  • Genetic variation, brain, and intelligence differences. (
  • These common genetic influences explained 93% of the trait correlations found in men and 85% in women. (
  • Anxiety showed significant positive genetic correlations with depression and insomnia as well as coronary artery disease, mirroring findings from epidemiological studies. (
  • The results on genetic correlations imply that selection on calf's birth weight leads on one hand to calves being born earlier and on the other hand to dams with later parturition. (
  • Here we assess variation of root traits in response to perturbations of the auxin, cytokinin, and abscisic acid pathways in 192 Arabidopsis accessions. (
  • Finally, we show that natural variation in root traits is significantly associated with climate parameters relevant for local adaption in Arabidopsis thaliana and that, in particular, ABA regulated lateral root traits are likely to be relevant for adaptation to soil moisture. (
  • F. C. Yeh and T. J. B. Boyle, "Population Genetic Analysis of Codominant and Dominant Markers and Quantitative Traits," Belgian Journal of Botany, Vol. 129, 1997, pp. 157-163. (
  • Individual trait measurements and pedigrees used in animal models to estimate quantitative genetic parameters for fifteen traits for nine brook trout populations from Cape Race, Newfoundland, Canada. (
  • Quantitative genetic parameter values (QGV) and QST values for fifteen traits for nine brook trout populations estimated from animal models and used to generate figures and in statistical analyses. (
  • The traits had coefficient of variation of 37 and 14%, respectively. (
  • The variation in both traits was affected by year and sex (male calves heavier) and by management factors, such as the age distribution of females and males. (
  • In both traits the heritability was moderate (0.23 and 0.24) with a high proportion of maternal genetic variation (0.23) in birth weight. (
  • The North Atlantic Oscillation (NAO) indices, summarizing the major weather conditions prior to rut, explained part of the annual variation in the traits. (
  • The amount of total genetic variation in relation to trait mean, or the evolvability, was 21% in birth date and 10% in birth weight indicating that selection could successfully be used to improve herd productivity and that the traits have substantial potential for adapting to possible changing environmental conditions. (
  • This is one of the few cases where you can identify a single genetic polymorphism which has a significant interaction with aspirin such that it affects whether or not it protects against cardiovascular disease," says first author Kathryn Hall, PhD, MPH, an investigator in the Division of General Medicine and Primary Care at BIDMC and Research Fellow at Harvard Medical School. (
  • One of the research team's major strengths was the great size of the patient populations that were under study, which empowered them to discover important genetic risk factors for glaucoma. (
  • Because of the poor fidelity of RNA-dependent RNA polymerase, genetic variation typically forms a heterogeneous virus pool in RNA virus populations, including coronaviruses such as mouse hepatitis virus (MHV) ( 5 , 6 ). (
  • The objective of the present study was to assess the level of genetic variation in populations of P. mariana × P. rubens hybrids derived from artificial crosses. (
  • R. Narendrula and K. Nkongolo, "Genetic Variation in Picea mariana × P. rubens Hybrid Populations Assessed with ISSR and RAPD Markers," American Journal of Plant Sciences , Vol. 3 No. 6, 2012, pp. 731-737. (
  • K. K. Nkongolo, "RAPD Variations among Pure and Hybrid Populations of Picea mariana, P. rubens, and P. glauca (Pinaceae), and Cytogenetic Stability of Picea Hybrids: Identification of Species-Specific RAPD Markers," Plant Systematics and Evolution, Vol. 215, No. 1-4, 1999, pp. 229-239. (
  • M. S. Mehes, K. K. Nkongolo and P. Michael, "Genetic Analysis of Pinus strobus and Pinus monticola Populations from Canada Using ISSR and RAPD Markers: Development of Genome-Specific SCAR Markers," Plant Systematics and Evolution, Vol. 267, No. 1-4, 2007, pp. 47-63. (
  • Variations in growth, survival and carbon isotope composition (δ 13 C) among Pinus pinaster populations of different geographic origins. (
  • Morphological and physiological variation in western redcedar ( Thuja plicata ) populations under contrasting soil water. (
  • How population size influences quantitative genetic variation and differentiation among natural, fragmented populations remains unresolved. (
  • Small, isolated populations might occupy poor quality habitats and lose genetic variation more rapidly due to genetic drift than large populations. (
  • This suggests that (i) small populations of some species may retain adaptive potential according to commonly adopted quantitative genetic measures and (ii) populations of varying sizes experience a variety of environmental conditions in nature, however extremely large studies are likely required before any firm conclusions can be made. (
  • A table summarizing, per population, the number of females and males used to generate families as well as the range and mean number of crosses per male for the common garden experiment used to estimate quantitative genetic parameters for Cape Race brook trout populations. (
  • A primary goal of The Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) is to develop an 'African Diaspora Power Chip' (ADPC), a genotyping array consisting of tagging SNPs, useful in comprehensively identifying African specific genetic variation. (
  • This novel array covers African specific variation far better than other commercially available arrays, and will enable better GWAS analyses for researchers with individuals of African descent in their study populations. (
  • A recent study cataloging variation in continental African populations suggests this type of African-specific genotyping array is both necessary and valuable for facilitating large-scale GWAS in populations of African ancestry. (
  • This was supported by the high degree of divergence and differentiation found among populations, significant population structure between locations, and a modest positive association between geographic and genetic distances. (
  • Enhancing the evaluation of genetic risk prediction models for inhibitor development among people with hemophilia in different populations. (
  • Nongenetic factors are still appreciable and account for a coefficient of variation that averages ∼3.6% within inbred strains and isogenic F 1 hybrids. (
  • Variation within isogenic strains appears to be generated mainly by developmental noise. (
  • Our findings provide a resource for investigating drug disposition in the CC strains, and offer a new paradigm for integrating biotransformation reactions to corresponding variations in DNA sequences. (
  • A reference enzootic strain from Colombia showed more genetic relatedness to three epizootic strains isolated in the same country, than to its own serogroup prototype strain isolated in Panama. (
  • Thus, genetic relatedness within Venezuelan equine encephalitis strains in Colombia seems to be a function of geography rather than epidemiology. (
  • Furthermore, over time, antigenic variation (antigenic drift) within a subtype may be so marked that infection or vaccination with one strain may not induce immunity to distantly related strains of the same subtype. (
  • The analysis revealed a substantial impact of genetic variation acting on drug biotransformation, allowed mapping of potential joint genetic effects in the context of individual drugs, and demonstrated crosstalk between drug metabolism and lipid metabolism. (
  • Because cytochrome P450 oxidoreductase helps regulate the activity of these enzymes, researchers suspect that normal variations in the POR gene may influence a person's response to particular drugs (drug metabolism). (
  • P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity. (
  • Impact of genetic variation in acrylamide metabolism on hemoglobin adduct levels. (
  • In this volume on carotenoids their chemical and physical characteristics, occurrence, production, use, analysis and human exposure, metabolism, kinetics and genetic variation are studied, as well as their cancer-preventive effects, other beneficial effects, carcinogenicity and other toxic effects. (
  • Until now, the predominant view was that this variation in swimming behavior reflected the overall genetics of the male rather than the variable genetics of the individual sperm cells," explains Richard Borowsky, a professor emeritus in NYU's Department of Biology and the senior author of the paper, which will be published today (November 11) in the journal Scientific Reports . (
  • Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations. (
  • Identification of Genetic Variation among Dengue Virus DEN-4 Isolates with Heteroduplex Analysis. (
  • To determine the degree of genetic variation within one serologic group of Venezuelan equine encephalitis virus and the relatedness of viruses with different epidemiologic backgrounds isolated within the same country, virion RNA from 16 isolates belonging to subtype I were compared by RNase T1 oligonucleotide fingerprinting. (
  • S. zooepidemicus displays a wide genetic variation between different isolates. (
  • Now, a new study suggests that common genetic variation in the gene for catechol-O-methyltransferase (COMT) may modify the cardiovascular benefit of aspirin, and in some people, may confer slight harm. (
  • We conclude that common genetic variation accounts for a substantive proportion of the genetic architecture underlying anxiety. (
  • Alexander, PhD, A., D. Dean III, PhD, and H. H. Goldsmith, PhD. Genetic and Environmental Influences of Variation in Diffusion MRI Measures of White Matter Microstructure . (
  • Additionally, genetic influences on participation in physical activities correlated moderately between adolescence and adulthood (rA = 0.51 95% CI 0.39-0.64 and 0.44 95% CI 0.34-0.55, respectively). (
  • Conclusions Genetic and unique environmental influences explain a large proportion of variation in the number of leisure-time physical activities. (
  • The scientists took a high-level view of the entire genome-looking for large deletions and duplications of DNA called copy number variations or CNVs-and found that as many as 41 percent of neurons had at least one unique, massive CNV that arose spontaneously, meaning it wasn't passed down from a parent. (
  • Collectively, this might result in directional changes in additive genetic variation (VA) and trait differentiation (QST) from small to large population size. (
  • Our results suggest that the emerging paradigm of targeting of treatments to the genetic cause in rare devastating epilepsies might also extend to a proportion of common epilepsies. (
  • Although influenza B viruses have shown more antigenic stability than influenza A viruses, antigenic variation does occur. (
  • A preliminary study by scientists at the National Institute of Environmental Health Sciences indicates that a human gene variation that reduces production of an enzyme in the lungs also makes people less susceptible to lung cancer. (
  • IMSEAR at SEARO: Human genetic variation and personalized medicine. (
  • Agrawal S, Khan F. Human genetic variation and personalized medicine. (
  • Human genome sequencing results revealed an insight into the role of human genetic variation behind differential susceptibility of human diseases, differential response to pharmacological agents and presence of varied phenotypes. (
  • Genetic influence helps explain variation in human fertility. (
  • However, little is known on how genetic and environmental factors affect this trait. (
  • Genome-wide association studies should lead to the identification of additional genetic factors underlying cholestatic liver disease. (
  • By generating large numbers of knockout lines on a single defined genetic background, these projects aim to uncover the function of every single coding gene in the mouse genome using a high-throughput approach . (
  • This array is designed based on the novel variation identified in 642 CAAPA samples of African ancestry with high coverage whole genome sequence data (∼30× depth). (
  • This study] has identified genetic factors that help determine why some develop glaucoma and others do not, [and] has also provided further evidence that the [TGF-beta] signaling pathway is important in glaucoma pathogenesis," Dr. Fingert said. (
  • Nonetheless they note that given that aspirin is preventively prescribed to millions of individuals and the COMT genetic variant is extremely common, this study underscores the potential importance of individualizing therapies based on genetic profiles. (
  • Different substrains of C57BL/6 mice possess unique genetic characteristics that should be considered in study design and in the generation and breeding of genetically engineered animal models. (
  • This study established that different sperm from the same male vary in their characteristics because they differ in their genetic cargo. (
  • This study examined the effects of genotypic variations on the productivity and behavior of laying hens following heat stress (HS). (
  • The Oxford team now hope to carry out a pilot study to see whether tests that look for this type of genetic change can help in the diagnosis of new cases of autism. (
  • In this study, we test the hypothesis that variations in this gene influence the development and severity of chronic periodontitis. (
  • Methods We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy. (
  • Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study. (
  • Using the model species Arabidopsis thaliana we quantitatively explore the breadth of natural variation in plant hormone responses to three major plant hormones: auxin, cytokinin, and abscisic acid. (
  • This confirms the genetic closeness of P. mariana and P. rubens species. (
  • The morphological species concept does not rely on genetic information to differentiate between members of the same species, and the phylogenetic species concept does. (
  • Fewell, J & Bertram, SM 2002, ' Evidence for genetic variation in worker task performance by African and European honey bees ', Behavioral Ecology and Sociobiology , vol. 52, no. 4, pp. 318-325. (
  • Like compounds from biological sources and low-molecular-weight nonoccupational asthma, occupational asthma is probably the chemicals cause occupational asthma after a latent period of result of multiple genetic, environmental, and behavioral exposure. (
  • To determine the role of environmental and host genetic factors in shaping fungal endophyte communities we used culturing and metabarcoding techniques to quantify fungal taxa within healthy Scots pine (Pinus sylvestris) needles in a 7-y old provenance-progeny trial replicated at three sites. (
  • Washington [US], September 27 (ANI): A novel role for a cancer-causing gene in controlling an important genetic process that underpins genetic variation in prostate cancer has been identified by researchers from Barts Cancer Institute (BCI) at Queen Mary University of London, the Italian Institute for Genomic Medicine, and the University of Milan. (
  • We have made the first comprehensive genomic survey of S. aureus in the Philippines, which bridges the gap in genomic data from the Western Pacific Region and will constitute the genetic background for contextualizing prospective surveillance. (
  • The review also incorporates the major findings categorizing the common diseases on the basis of genetic profiles and ethnic information and in establishing personalized disease diagnosis, drug responses and treatment modalities based on the genetic determinants. (
  • One hundred thirteen sequence variations with nine recurrent variant sites were identified in analyzed S-gene sequences compared with the BJ01 strain of SARS-CoV. (
  • Individual variation to protect every being against diseases and infections. (
  • Mutation in a subsegment of chromosome 15 is also known to cause two rare genetic disorders, Angelman and Prader-Willi Syndromes. (
  • Our research strongly suggests that this type of rare genetic variation is important and accounts for a significant portion of the genetic basis of autism,' says Professor Tony Monaco. (
  • We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. (
  • Programs to preserve genetic health in dog breeds have been intensively discussed in Sweden in connection with the development of breed specific genetic strategies. (
  • Autism spectrum disorders are a diverse group of disorders characterized by different genetic variations influencing brain development. (
  • However, early knockout models were produced on a different genetic background, using embryonic stem (ES) cells derived from substrains of inbred 129 mice. (
  • Analyses of nongeographic and geographic variation for individuals from 36 localities in Guatemala and southeastern Mexico were conducted to assay morphologic and geographic boundaries. (
  • Knowing that aspirin is commonly prescribed for the prevention of incident cardiovascular disease, the investigators also wanted to learn if genetic variation in COMT would influence aspirin's potential benefit. (
  • Balanced variation for the entire population to make long term adaptation to a changing environment possible. (
  • R. C. Lewontin and L. C. Birch, "Hybridization as a Source of Variation for Adaptation to New Environments," Evolution, Vol. 20, No. 3, 1966, pp. 315-336. (
  • It is very variable in its genetic makeup, which makes diagnosis and treatment tricky, as there is not a one size fits all approach for treating patients. (
  • The organism's genetic makeup might play a part in the activity of any of these processes and might underlie chemical toxicity and adverse drug reactions ( Meyer, 2000 ). (
  • Contrary to what we once thought, the genetic makeup of neurons in the brain aren't identical, but are made up of a patchwork of DNA," says corresponding author Fred Gage , Salk's Vi and John Adler Chair for Research on Age-Related Neurodegenerative Disease. (
  • 76% of the variance is heritable and up to 90% is attributable to genetic factors in a broad sense. (
  • Diversifying or disruptive selection increases genetic variance when natural selection selects for two or more extreme phenotypes that each have specific advantages. (
  • Washington [US], October 1 (ANI): A group of researchers discovered a novel role for a cancer-causing gene in controlling an important genetic process that underpins genetic variation in prostate cancer . (
  • The investigators identified genetic variations associated with POAG, including NPG. (
  • In the future, when more environmental and genetic factors (like CDKN2BAS ) are discovered, physicians may be able to use genetic tests to accurately predict who is at greatest risk for developing glaucoma and target treatments to those who need them most," Dr. Fingert concluded. (
  • Factors that influence the variation in occurrence of antipsychotic-related parkinsonism in elderly have not been well elucidated. (
  • The factors causing variation in birth date and birth weight were analysed from the data from an experimental reindeer herd consisting of 1136 calves with parental information. (
  • Cancer is a multifactorial disease brought on by a combination of causal and predisposing genetic factors, and which at a given moment and under favorable conditions may take effect in predisposed people 1 . (
  • Stabilité phénotypique de la croissance en hauteur et cinétique journalière de la presson de sève et de la transpiration chez le pin maritime ( Pinus pinaster Ait. (
  • What causes this malfunction is unclear, but researchers have identified some genetic variations that may increase a person's risk. (
  • New research offers a better understanding of how natural genetic variation impacts brain development, gives rise to the spectrum of behaviors associated with autism and may contribute to more individualized approaches for supporting people with autism. (
  • When we examined women in the placebo arm of the trial, we found that the 23 percent of the women who were 'val/vals' were naturally protected against incident cardiovascular disease," explains senior author Daniel I. Chasman, PhD, a genetic epidemiologist in the Division of Preventive Medicine at Brigham and Women's Hospital and Associate Professor of Medicine at Harvard Medical School. (
  • Relationships were estimated using the resulting data from the patterns of allozyme variation and summarized in both phenetic and cladistic branching diagrams. (
  • The Collaborative Cross (CC) mouse reference population is a promising model for pharmacogenomic studies because of its large amount of genetic variation, genetic reproducibility, and dense recombination sites. (
  • Genetic drift might furthermore overcome selection as population size decreases. (
  • What is most likely happening to the genetic variation of the population of North East Arctic cod? (
  • The genetic variation in the population is decreasing due to selective pressure. (
  • The MRSA population in the Philippines comprised a limited number of genetic clones, including several international epidemic clones, such as CC30-spa-t019-SCCmec-IV-PVL+, CC5-SCCmec-typeIV and ST239-spa-t030-SCCmec-typeIII. (
  • The cause of inherited disorders - observed in so many dog breeds - is that breeders, due to ignorance or extreme breeding forced by various forms of competition trials, break down the protective barriers against genetic disorders that Nature has built over millions of years by means of natural selection. (
  • Thus everybody involved in breeding ought to know at least a little bit about how the fertilized egg is protected against genetic disorders. (
  • Autism spectrum disorders are known to have a predominantly genetic basis from twin and family studies, but the genetic changes responsible are varied and remain largely unknown. (
  • Genetic parameters and QTL analysis of delta C-13 and ring width in maritime pine. (
  • Genetically engineered animal models (GEMs) are powerful tools for biomedical research and drug discovery, but genetic variation in animal models derived from distinct ES cell lines and subsequent breeding can impact both the interpretation and reproducibility of studies which employ them 1 . (
  • A central challenge in pharmaceutical research is to investigate genetic variation in response to drugs. (
  • Overall an attempt has been made to highlight the importance of studying the genetic profiles of an individual in biomedical and pharmacogenomics research. (
  • The data provide evidence that genetic selection is a useful strategy for reducing HS response in laying hens. (
  • By identifying the genetic causes of autism, we hope in the future to be able to improve the diagnosis and treatment of this condition which can affect children and their families so severely. (
  • Many of the lost or duplicated DNA chunks occurred in genetic regions already implicated in autism. (
  • While recent advances in gene editing accelerated the migration of models to a pure C57BL/6 background, researchers should remain aware of potentially confounding results from genetic variation between C57BL/6 substrains. (
  • Dr. Wiggs and coworkers have conducted one of the world's largest genetic studies of glaucoma," Dr. Fingert said. (
  • A We will store part of the blood sample that we collect in the exam center for future genetic studies. (
  • What genetic studies will be done with the samples? (
  • This finding, along with the fact that the neurons had unique CNVs, suggests that the genetic changes occur later in development and are not inherited from parents or passed to offspring. (
  • However, while there is substantial natural variation of root architectures, it is not clear to which extent genetic variation in hormone related pathways contribute. (