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.
Any method used for determining the location of and relative distances between genes on a chromosome.
Genetic loci associated with a QUANTITATIVE TRAIT.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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.
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.
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).
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Genotypic differences observed among individuals in 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 category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
The functional hereditary units of BACTERIA.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
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.
Mouse strains constructed to possess identical genotypes except for a difference at a single gene locus.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
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.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
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 insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Proteins found in any species of bacterium.
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 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.
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.
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.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
An individual having different alleles at one or more loci regarding a specific character.
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)
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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)
The relationships of groups of organisms as reflected by their genetic makeup.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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)
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.
Genes which regulate or circumscribe the activity of other genes; specifically, genes which code for PROTEINS or RNAs which have GENE EXPRESSION REGULATION functions.
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
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.
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).
An individual in which both alleles at a given locus are identical.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
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 female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Animals that are produced through selective breeding to eliminate genetic background differences except for a single or few specific loci. They are used to investigate the contribution of genetic background differences to PHENOTYPE.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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 genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The functional hereditary units of PLANTS.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The transfer of bacterial DNA by phages from an infected bacterium to another bacterium. This also refers to the transfer of genes into eukaryotic cells by viruses. This naturally occurring process is routinely employed as a GENE TRANSFER TECHNIQUE.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A subdiscipline of genetics which deals with the genetic basis of the immune response (IMMUNITY).
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
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.
Individuals whose ancestral origins are in the continent of Europe.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
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 magnitude of INBREEDING in humans.
Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
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.
The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).
The systematic study of the complete DNA sequences (GENOME) of organisms.
A parasexual process in BACTERIA; ALGAE; FUNGI; and ciliate EUKARYOTA for achieving exchange of chromosome material during fusion of two cells. In bacteria, this is a uni-directional transfer of genetic material; in protozoa it is a bi-directional exchange. In algae and fungi, it is a form of sexual reproduction, with the union of male and female gametes.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
Biochemical identification of mutational changes in a nucleotide sequence.
The sequential location of genes on a chromosome.
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.
Genes that influence the PHENOTYPE only in the homozygous state.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The ability of microorganisms, especially bacteria, to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).
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.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
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 functional hereditary units of INSECTS.
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
The genetic complement of a plant (PLANTS) as represented in its DNA.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all 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.
Change brought about to an organisms genetic composition by unidirectional transfer (TRANSFECTION; TRANSDUCTION, GENETIC; CONJUGATION, GENETIC, etc.) and incorporation of foreign DNA into prokaryotic or eukaryotic cells by recombination of part or all of that DNA into the cell's genome.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
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.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
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 loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
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.
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.
Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).
A quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc., with application chiefly in the areas of research and medicine.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
A family of gram-positive bacteria found regularly in the mouth and intestinal tract of man and other animals, in food and dairy products, and in fermenting vegetable juices. A few species are highly pathogenic.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
Established cell cultures that have the potential to propagate indefinitely.
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.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
A subdiscipline of genetics which deals with the genetic mechanisms and processes of microorganisms.
The genetic complement of a BACTERIA as represented in its DNA.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
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.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
A characteristic symptom complex.
The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.
A genus of minute bacteria in the family ACHOLEPLASMATACEAE that inhabit phloem sieve elements of infected PLANTS and cause symptoms such as yellowing, phyllody, and witches' brooms. Organisms lack a CELL WALL and thus are similar to MYCOPLASMA in animals. They are transmitted by over 100 species of INSECTS especially leafhoppers, planthoppers, and PSYLLIDS.
Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.
Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.
The functional hereditary units of FUNGI.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
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 serotype of Salmonella enterica that is a frequent agent of Salmonella gastroenteritis in humans. It also causes PARATYPHOID FEVER.
Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).
A species of gliding bacteria found on soil as well as in surface fresh water and coastal seawater.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Transport proteins that carry specific substances in the blood or across cell membranes.
A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)
An antineoplastic agent with alkylating properties. It also acts as a mutagen by damaging DNA and is used experimentally for that effect.
A social group consisting of parents or parent substitutes and children.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Polysaccharides found in bacteria and in capsules thereof.
Strains of mice arising from a parental inbred stock that was subsequently used to produce substrains of knockout and other mutant mice with targeted mutations.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
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.
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.
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
Cis-acting DNA sequences which can increase transcription of genes. Enhancers can usually function in either orientation and at various distances from a promoter.
The capacity of a normal organism to remain unaffected by microorganisms and their toxins. It results from the presence of naturally occurring ANTI-INFECTIVE AGENTS, constitutional factors such as BODY TEMPERATURE and immediate acting immune cells such as NATURAL KILLER CELLS.
Deoxyribonucleic acid that makes up the genetic material of fungi.
A genus of gram-negative, aerobic, rod-shaped bacteria that activate PLANT ROOT NODULATION in leguminous plants. Members of this genus are nitrogen-fixing and common soil inhabitants.
Fungal genes that mostly encode TRANSCRIPTION FACTORS. In some FUNGI they also encode PHEROMONES and PHEROMONE RECEPTORS. The transcription factors control expression of specific proteins that give a cell its mating identity. Opposite mating type identities are required for mating.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
The heritable modification of the properties of a competent bacterium by naked DNA from another source. The uptake of naked DNA is a naturally occuring phenomenon in some bacteria. It is often used as a GENE TRANSFER TECHNIQUE.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
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 sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.
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.
Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.
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.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Deoxyribonucleic acid that makes up the genetic material of plants.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Her research goals include identifying genetic loci responsible for genetic diseases; identifying important locations within ... The Mohlke lab is currently identifying genetic variants and genes that influence common human traits with complex inheritance ... "Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion". Nat Genet. ... an abundance of recently identified common genetic variants". Human Molecular Genetics. 17 (R2): R102-R108. doi:10.1093/hmg/ ...
"Novel genetic loci underlying human intracranial volume identified through genome-wide association". Nature Neuroscience. 19 ( ... though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and ... "Trisomy 13 , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". rarediseases.info.nih.gov. Retrieved 2020 ... "Microcephaly autosomal dominant". Genetic and Rare Diseases Information Center. Retrieved 2019-07-30. "OMIM Entry - # 617520 - ...
"Novel genetic loci underlying human intracranial volume identified through genome-wide association". Nature Neuroscience. 19 ( ... The genetic coding that initiates a single mutation is sporadic and patterns are hard to detect in many cases. Even though very ... Recent research has shown that there is a strong link between genetic pathways that cause brain develop and mutations in that ... The next step is to move to clinical trials involving humans in order to determine the exact genetic mutation causing the ...
"Novel genetic loci underlying human intracranial volume identified through genome-wide association". Nature Neuroscience. 19 ( ... A combination of genetic and biochemical methods (see below) has led to the discovery of several important classes of axon ... In genetic model organisms like mice, zebrafish, nematodes, and fruit flies, scientists can generate mutations and see whether ... Much of the early work in axon guidance was done in the grasshopper, where individual motor neurons were identified and their ...
December 2016). "Novel genetic loci underlying human intracranial volume identified through genome-wide association". Nature ... For example, enrichment analyses of different signaling pathways led to the discovery of a genetic association with ...
... has since been expanded to 253,288 individuals and the number of genetic variants identified is 697 in 423 genetic loci. In a ... These loci do not only determine height, but other features or characteristics. As an example, 4 of the 7 loci identified for ... study of more than 180,000 individuals has identified hundreds of genetic variants in at least 180 loci associated with adult ... "Novel genetic loci underlying human intracranial volume identified through genome-wide association". Nature Neuroscience. 19 ( ...
GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci". Frontiers in Genetics. 7: 3. doi:10.3389/fgene. ... Shen C, Gao J, Sheng Y, Dou J, Zhou F, Zheng X, Ko R, Tang X, Zhu C, Yin X, Sun L, Cui Y, Zhang X (2016). "Genetic ... Ikeda T, Shibata J, Yoshimura K, Koito A, Matsushita S (March 2007). "Recurrent HIV-1 integration at the BACH2 locus in resting ...
A genetic study identified two quantitative trait loci (QTL) that control hearing function. One QTL, named age-related hearing ... A genetic locus conferring susceptibility was identified (juvenile audiogenic monogenic seizures1, jams1) on chromosome 10. A ... The locus extends over about 8 kbp and contains the six coding exons that give rise to an open reading frame of 639 nucleotides ... aimed to decipher the genetic basis of both the hearing loss and audiogenic seizure susceptibility subsequently identified the ...
Additionally, Jampol and Becker hypothesize that the predisposing genetic loci can be identified. Gass points to a lack of ... According to Becker's common genetic hypothesis, "unlike mendelian genetic disorders, common autoimmune and inflammatory ... Some suggest a genetic predisposition to the disease, while others postulate an abnormal immune response to a virus. Multiple ... White spot syndromes of the retina: a hypothesis based on the common genetic hypothesis of autoimmune/inflammatory disease. ...
"Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income". Nature Communications. 10 (1): ... McIntosh, AM; Sullivan, PF; Lewis, CM (3 April 2019). "Uncovering the Genetic Architecture of Major Depression". Neuron. 102 (1 ... McIntosh, AM; Sullivan, PF; Lewis, CM (3 April 2019). "Uncovering the Genetic Architecture of Major Depression". Neuron. 102 (1 ... "Genetic stratification of depression in UK Biobank". Translational Psychiatry. 10 (1): 163. doi:10.1038/s41398-020-0848-0. PMC ...
A new locus for hemiplegic migraine maps to chromosome 1q31. Learning genetic epistasis using Bayesian network scoring criteria ... A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. ... Evidence for Linkage and Genetic Heterogeneity. Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, ... Gardner, Kathy; Barmada, M Michael; Ptacek, Louis J; Hoffman, Eric P (1997). "A new locus for hemiplegic migraine maps to ...
A locus of Xq24-q27 has been described. However, no gene has been identified. Genetic testing--x linked dominant pattern ...
Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, Butte NF (2012). "Novel genetic loci identified for the ... "Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels". Science. 316 (5829): 1331-6. ...
"Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population". PLOS ONE. 7 (12): ...
Genetic studies have demonstrated several loci for JME and identified mutations in 4 genes. The characteristic signs of JME are ... Carbamazepine may aggravate genetic generalized epilepsies and as such its use should be avoided in JME. Treatment is lifelong ... Juvenile myoclonic epilepsy is an inherited genetic syndrome, but the way in which this disorder is inherited is unclear. ... mutation R482X was identified in a patient with JME while an additional missense mutation C104F was identified in a German ...
Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, Butte NF (2012-12-14). "Novel genetic loci identified for the ... SNPs are a very common type of genetic variation and are silent most of the time. However, certain SNPs in the conserved or ... The 5' UTR region of SLC46A3 has 7 stem-loop structures identified and 3' UTR region a total of 10. The majority of the binding ... CD79A: An interaction with CD79A was identified in a yeast-two hybrid (Y2H) screen with a confidence score of 0.632 by the ...
The consortium has also identified 108 genetic loci that are consistently associated with schizophrenia. In addition, its ... Since then, it has expanded its scope to include other disorders, as well as less common forms of genetic variation such as ... "New Genetic Risk Factors Discovered for Alzheimer's Disease". UNC Health Care (Press release). 2019-01-07. Retrieved 2019-06-05 ... Its goal is to generate information about the genetics of psychiatric conditions that will be "actionable", that is, "genetic ...
STR polymorphisms are genetic markers that may be used to identify a DNA sequence. The FBI analyses 13 specific STR loci for ... A number of different STRs along with their loci in a particular genome can be used for genotyping. For example, the STR ... An STR multiplex system is used to identify specific short tandem repeats (STRs). ...
Genome-wide association studies have identified over 160 genetic susceptibility loci for coronary artery disease. Endometriosis ... van der Harst P, Verweij N (February 2018). "Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic ... Other genome-wide studies have identified a firm risk variant on chromosome 9 (9p21.3). However, these and other loci are found ... May 2006). "Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome ...
Mutations in interleukin 6 may be protective.[citation needed]. Recently, several genetic loci have been identified as relevant ... No specific gene loci has been identified to be associated with cerebral aneurysms. Generally, aneurysms larger than 7 mm in ... Genetic conditions associated with connective tissue disease may also be associated with the development of aneurysms. This ... Intracranial aneurysms may result from diseases acquired during life, or from genetic conditions. Hypertension, smoking, ...
Attempts to demonstrate genetic linkage to several known loci have been unsuccessful. Hen-feathering in heterozygous Hf/hf ... Meanwhile, female carriers of Hf gene can not be identified unless they are submitted to progeny tests. ... The genetic symbol proposed by F. B. Hutt in 1958 to designate this autosomic dominant gene was Hf (after "hen feathering") ... Morgan, T. H. 1920 The genetic factor for hen-feathering in the Sebright Bantam. Biol. Bull 39, 257-259 Somes RG Jr, George FW ...
"The Genetic Map of Artemisia annua L. Identifies Loci Affecting Yield of the Antimalarial Drug Artemisinin". Science. 327 (5963 ... Characterisation and genetic mapping of traits responsible for production of artemisinin in Artemisia annua has enabled ...
"Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat ... Several additional loci have been identified. Also, several quantitative trait loci for BMI have been identified. Confirmed and ... 18 January 2009). "Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in ... May 2009). "The role of obesity-associated loci identified in genome wide association studies in the determination of pediatric ...
Geneticists have identified more than 300 genetic loci and 150 genes associated with coat color variability. Knowing the ... There is a genetic difference between domestic and wild populations. There is also a genetic difference between the ... The Single Genetic Regulatory Network Hypothesis claims that genetic changes in upstream regulators affect downstream systems. ... the genomes of domestic pigs have strong signatures of selection at genetic loci that affect behavior and morphology. The study ...
When a locus is identified as imprinted, two different classes express different alleles. Inherited imprinted genes of ... The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and ... A single locus will entirely produce one's phenotype although two alleles are inherited. This genotype class is called parental ... Underdominance of the locus is another possibility of phenotypic expression. Both maternal and paternal phenotypes will have a ...
A recent genetic study has identified first risk locus for syncope and collapse. The lead genetic variant, residing at ... There also seems to be a genetic component to syncope. A medical history, physical examination, and electrocardiogram (ECG) are ... There also seems to be a genetic component to syncope. ...
Genetic testing can also be done to identify the mutation on the FATP4 gene associated with fatty acid synthesis. Genetic ... IPS has been identified to have its own gene locus making it easier to diagnose. Diagnosis can be made at birth by identifying ... IPS is caused by a number of mutations at different loci of the FATP4 gene. One nonsense mutation and a number of missense ... These underlying genetic causes explain the symptoms of the flaky, dry, cutaneous skin phenotype expressed. IPS genes segregate ...
... and over 50 genetic loci have been linked to this condition. Ten genes have been identified with autosomal dominant inheritance ... Ultimate confirmation of HSP diagnosis can only be provided by carrying out genetic tests targeted towards known genetic ... Many genes were identified and linked to HSP. It remains a challenge to accurately define the key players in each of the ... Despite the number of genes known to be involved in this condition ~40% of cases have yet to have their cause identified. In ...
She identified two new dominant and interacting genetic loci that she named Dissociation (Ds) and Activator (Ac). She found ... She also identified "families" of transposons, which did not interact with one another. Her work on controlling elements and ... In summer 1951, she reported her work on the origin and behavior of mutable loci in maize at the annual symposium at Cold ... McClintock was an independent child beginning at a very young age, a trait she later identified as her "capacity to be alone". ...
"Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease". Nature ...
Another use of QTLs is to identify candidate genes underlying a trait. Once a region of DNA is identified as contributing to a ... While schizophrenia is widely believed to be multifactorially genetic by biopsychiatrists, no characteristic genetic markers ... DNA locus associated with variation in a quantitative trait. A quantitative trait locus (QTL) is a locus (section of DNA) that ... For example, they may be interested in knowing whether a phenotype is shaped by many independent loci, or by a few loci, and do ...
The genetic network logic responds to signals received from the environment and from internal cell status sensors to adapt the ... In 2010, the Caulobacter NA1000 strain was sequenced and all differences with the CB15 "wild type" strain were identified.[6] ... and insertion/deletion polymorphisms at five chromosomal loci.[6] C. crescentus is synonymous with Caulobacter vibrioides.[1] ... The central feature of the cell cycle regulation is a cyclical genetic circuit-a cell cycle engine-that is centered around the ...
... extend from HLA-A1 locus to DQ2 locus. This compares with 25% of Cw7-B7 that extend to A3::DQ6 [4] Of 25 potential genetic ... Because of the haplotype it became possible to identify the genetic risk even though disease causing genes, a DQ2 haplotype, ... genetic) linkage between A1 and B1, this was extended to Cw7 locus.[6] ... Linkage could not be extended to HLA-DPB1 locus.[34] Outside of Europe the DRB1*0301 and DR3-DQ2 loci have been linked to ...
The locus affects the expressed trait only through changing the expression of other loci. Over time, that locus would affect ... Pleiotropy describes the genetic effect of a single gene on multiple phenotypic traits. The underlying mechanism is genes that ... the phenotypic effect by which it was originally identified).[9] In addition to smaller hindlimb muscle mass, the mice exhibit ... Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal ...
Locus-specific probes are made for one side of the breakpoint and the other intact chromosome. In normal cells, the secondary ... FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification.[2] ... FISH is widely used in the field of microbial ecology, to identify microorganisms. Biofilms, for example, are composed of ... Special locus-specific probe mixtures are often used to count chromosomes, by binding to the centromeric regions of chromosomes ...
Contemporary compatibilists instead identify free will as a psychological capacity, such as to direct one's behavior in a way ... 1992). "A Platform for Evolving Genetic Automata for Text Segmentation (GNATS)". Science of Artificial Neural Networks. Science ... it is plausible that the central loci of our responsibility are our choices, or "willings".. ... A person's will is identified with their effective first-order desire, that is, the one they act on, and this will is free if ...
"Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some ... These rare genetic variants are autosomal dominant.[26] Cancer[edit]. In addition to its role in Alzheimer's disease, ...
Detailed genetic and physiological studies on these foxes have been done by Trut and colleagues. For example, the "star-shaped ... Trut and her colleagues have applied modern molecular techniques to the fox populations with the aim of not only identifying ... "Mapping loci for fox domestication: deconstruction/reconstruction of a behavioral phenotype". Behavior Genetics. 41: 593-606.. ... "A marker set for construction of a genetic map of the silver fox (Vulpes vulpes)". Journal of Heredity. 95: 185-194.. ...
Genetic engineering[edit]. TATA box modification[edit]. Evolutionary changes have pushed plants to adapt to the changing ... The DPE has been identified in three Drosophila TATA-less promoters and in the TATA-less human IRF-1 promoter.[10] ... In the 1980s, while investigating nucleotide sequences in mouse genome loci, the Hogness box sequence was found and "boxed in" ... The TATA box was first identified in 1978[1] as a component of eukaryotic promoters. Transcription is initiated at the TATA box ...
Locus. Chr. 20 p11.2-p11.1. The inhibition of glycogen phosphorylase has been proposed as one method for treating type 2 ... More than 65 mutations in the PYGM gene that lead to McArdle disease have been identified to date.[15][16] Symptoms of McArdle ... "McArdle disease: molecular genetic update". Acta Myol. 26 (1): 53-7. PMC 2949323 . PMID 17915571 ...
Jacob F; Monod J (June 1961). "Genetic regulatory mechanisms in the synthesis of proteins". J Mol Biol. 3 (3): 318-56. doi: ... Amsterdam, A; Hopkins, N (September 2006). "Mutagenesis strategies in zebrafish for identifying genes involved in development ... "Interchromosomal associations between alternatively expressed loci". Nature 435 (7042): 637-45. Bibcode:2005Natur.435..637S. ... Andrews, Christine A. (2010). "Natural Selection, Genetic Drift, and Gene Flow Do Not Act in Isolation in Natural Populations ...
"Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer". Nature ... யமட்டோட்டோ, et al., ABO இரத்த வகையில் உள்ள மூலக்கூறு நிலை மரபியல் அடிப்படைகள் (Molecular genetic basis of the histo-blood group ... H மரபணு இருக்கையானது (locus) 19 வது நிறப்புரியில் அமைந்துள்ளது. இது மரபு டி.என்.ஏ வில் 5 kb க்கும் அதிகமான நீளத்துக்கு உள்ள, 3 ... Seltsam A, Hallensleben M, Kollmann A, Blasczyk R (2003). "The nature of diversity and diversification at the ABO locus". Blood ...
This led to a bitter dispute over priority.[176] In 1933, Walter Norman Haworth chemically identified the vitamin as l- ... One explanation for the repeated loss of the ability to synthesize vitamin C is that it was the result of genetic drift; ... "Phylogeny and Evolution of Selected Primates as Determined by Sequences of the ε-Globin Locus and 5′ Flanking Regions". ... James Lind, a British Royal Navy surgeon who, in 1747, identified that a quality in fruit prevented scurvy in one of the first ...
... (BOR) , is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often ... Many different abnormalities in these genes have been identified.[citation needed] ... known locus. *2 (Feingold syndrome). *3 (Zimmermann-Laband syndrome). *4/13 (Fraser syndrome) ... Only about half of patients have a detectable genetic abnormality, mostly in the EYA1 gene, SIX1 gene or the SIX5 gene.[8] ...
High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic ... 2013). "Characterization and Haplotype analysis of 11 Y-STR loci in Ecuadorian population". Forensic Sci. Int. Genet. Suppl. ... "Family Tree DNA - Genetic Testing for Ancestry, Family History & Genealogy".. *^ a b c David K. Faux, 2007, The Genetic Link of ... "Family Tree DNA - Genetic Testing for Ancestry, Family History & Genealogy".. *^ "Family Tree DNA - Genetic Testing for ...
Several genetic factors have been identified as contributing to AD, including mutations to the amyloid precursor protein (APP) ... Inhibiting HDACs would allow for hyperacetylation of the SMN2 gene loci theoretically resulting in an increase in SMN2 ... Genetic cause[edit]. Spinal muscular atrophy is linked to genetic mutations in the SMN1 (Survival of Motor Neuron 1) gene. The ... Effective treatment of these diseases is often prevented by lack of understanding of the underlying molecular and genetic ...
Vitamin D up-regulates genetic expression of cathelicidin, which exhibits broad-spectrum microbicidal activity against bacteria ... "Structure of the gene for porcine peptide antibiotic PR-39, a cathelin gene family member: comparative mapping of the locus ... Currently identified cathelicidins include the following:[6] *Human: hCAP-18 (cleaved into LL-37 and FALL-39) ...
... and corresponding SNP - rs7274581 T/C has been identified in a large meta-analysis as a locus for lower susceptibility to ... "Genetic determinants of disease progression in Alzheimer's disease". Journal of Alzheimer's Disease. 43 (2): 649-55. doi ... "Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease" (PDF). Nature Genetics. 45 ( ... "Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2". ...
Orthologues of the 4 loci have been mapped in various species.[3][4] Each locus can produce a variety of polypeptides with ... It arises mainly from genetic recombination of the DNA encoded segments in individual somatic T cells by somatic V(D)J ... The essential function of the TCR complex is to identify specific bound antigen and elicit a distinct and critical response. ... Locus. Chr. 7 p14. The T-cell receptor, or TCR, is a molecule found on the surface of T cells, or T lymphocytes,[1] that is ...
Lamb MJ, Jablonka E (2005). Evolution in four dimensions: genetic, epigenetic, behavioral, and symbolic variation in the ... This recently identified enzyme has a catalytically active site called the Jumonji domain (JmjC). The demethylation occurs when ... a phenomenon in mammals where the father and mother contribute different epigenetic patterns for specific genomic loci in their ... These are normal genetic diseases caused by gene deletions or inactivation of the genes, but are unusually common because ...
"Genetic variation, classification and 'race'". Nature. Retrieved November 18, 2014. Ancestry, then, is a more subtle and ... Because of this complex and interwoven history, many loci must be examined to derive even an approximate portrayal of ... On average, the scientists found, people who identified as African-American had genes that were only 73.2 percent African. ... "The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States" (PDF). The American ...
Ingenious experiments that first identified a stem cell-the blood-forming stem cell-which set the stage for all current ... For 50 years of brilliant creativity in biomedical science-exemplified by his legendary work on the genetic code; his daring ... For bold, imaginative, and diverse contributions to medical science and human rights - she discovered the BRCA1 gene locus that ... For 50 years of international statesmanship in biomedical science-exemplified by discoveries concerning genetic diseases of the ...
Genetic driftEdit. Even if a well adapted Y chromosome manages to maintain genetic activity by avoiding mutation accumulation, ... For cytogenetic banding nomenclature, see article locus. *^ a b These values (ISCN start/stop) are based on the length of bands ... The Y chromosome was identified as a sex-determining chromosome by Nettie Stevens at Bryn Mawr College in 1905 during a study ... National Library of Medicine's Genetic Home Reference *^ "Definition of holandric , Dictionary.com". www.dictionary.com. ...
True WR, Rice J, Eisen SA, Heath AC, Goldberg J, Lyons MJ, Nowak J (April 1993). "A twin study of genetic and environmental ... The maintenance of fear has been shown to include the HPA axis, the locus coeruleus-noradrenergic systems, and the connections ... Heightened startle responses and a smaller hippocampal volume have been identified as biomarkers for the risk of developing ... Almost 50% of World Trade Center workers who self-identified as alcohol users reported drinking more during the rescue efforts. ...
Deletion/duplication analysis identifies mutations in the TWIST1 gene that are not readily detected by sequence analysis. ... Wynbrandt, James (2008). Genetic Disorders and Birth Defects. New York: Facts on File, Inc. p. 340. ISBN 9780816063963. " ... However, on occasion, children with a microdeletion of 7p21 (chromosome containing the locus responsible for SCS) develop new ... More than 35 varying TWIST mutations involving the b-HLH domain of the protein have been identified in people with SCS. The ...
Green (1996, p. 3) "Many pre-historians argue it is spurious to identify Iron Age Europeans as Celts (or other such labels)". ... It has been suggested as the locus of a Germano-Balto-Slavic continuum (the Germanic substrate hypothesis), but the ... Today the modern Slavic people come from a wide variety of genetic backgrounds, the frequency of the Haplogroup R1a which is a ... The Zarubinets culture is identified as proto-Slavic[79] or an ethnically-mixed community which became Slavicized.[80] ...
Karl Lashley, a well-known American neuropsychologist, had tried but failed to identify an anatomical locus for memory storage ... "Genetic evidence for a protein-kinase-A-mediated presynaptic component in NMDA-receptor-dependent forms of long-term synaptic ... Steven Siegelbaum identified a potassium channel that could be regulated by PKA, coupling serotonin's effects to altered ... The Kandel lab then sought to identify proteins that had to be synthesized to convert short-term memories into long-lasting ...
Genetic Counselor. MS. A Genetic counselor specializes in communication of genetic information to patients and families. ... Cardon LR, Abecasis GR (2003). "Using haplotype blocks to map human complex trait loci". Trends Genet. 19: 135-140. doi:10.1016 ... Therefore, although these tests are highly specific and sensitive, they do not routinely identify all of the mutations that ... Genetic counseling[edit]. Genetic counseling is the process of providing information about genetic conditions, diagnostic ...
Single-cell resolution can uncover the roles of genetic mosaicism or intra-tumor genetic heterogeneity in cancer development or ... MDA with CNV also poses the problem of identifying false CNVs that conceal the real CNVs. To solve this, when patterns can be ... "Amplification of multiple genomic loci from single cells isolated by laser micro-dissection of tissues". BMC Biotechnology. 8 ... Single-nucleotide polymorphisms (SNPs), which are a big part of genetic variation in the human genome, and copy number ...
"Multiple loci identified in a genome-wide association study of prostate cancer". Nature Genetics. 40 (3): 310-5. doi:10.1038/ng ... Genetic. Genetic background may contribute to prostate cancer risk, as suggested by associations with race, family, and ... "Multiple newly identified loci associated with prostate cancer susceptibility". Nature Genetics. 40 (3): 316-21. doi:10.1038/ng ... Arachidonate 5-lipoxygenase has been identified as playing a significant role in the survival of prostate cancer cells.[186][ ...
Scientists are closer to understanding the genetic causes of type 2 diabetes by identifying 111 new chromosome locations (loci ... 111 loci and previously known 76 loci regulate the expression of at least 266 genes that neighbour the identified disease loci ... we first need to identify as many plausible candidate loci as possible. Genetic maps are key to this task, by integrating the ... "Our results mean that we can now target the remaining loci on the genetic maps with deep sequencing to try and find the causal ...
PubMed journal article High-density genetic mapping identifies new susceptibility loci for rheumatoid arthriti were found in ... identified secondary independent effects at 6 loci and identified association to low-frequency variants at 4 loci. ... identified secondary independent effects at 6 loci and identified association to low-frequency variants at 4 loci. ... "High-density Genetic Mapping Identifies New Susceptibility Loci for Rheumatoid Arthritis." Nature Genetics, vol. 44, no. 12, ...
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. ... Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes ... Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes ... Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes ...
Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. Alexander Teumer, Adrienne Tin, ... 5Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, ... 5Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, ... 37Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, ...
... from which they were able to confirm the 14 previously known gene loci and identify 18 new loci associated with BMI. They were ... "We estimate that the 32 loci that weve found, together account for two to four per cent of the genetic causes of obesity, so ... scientists usually talk about genetic loci rather than genes. In the present study, the researchers have charted the gene ... "What we wanted to do was to identify genes that increase the risk of obesity using large-scale methods that involved examining ...
Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer- ... Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer- ... Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer- ... Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer- ...
... is a rare neurodegenerative disease for which the genetic contribution is incompletely understood. ... In some loci, potentially causal coding variants were identified (in genome-wide significant loci, at 6p21.1, in RUNX2, and at ... We identified 5 associated loci at a genome-wide significance threshold P , 5 × 10− 8, including replication of 3 loci from ... Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic ...
We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in ... Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits Nat Genet. 2018 Oct;50( ... We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also ... highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological ...
It is necessary to employ powerful strategies to screen and to identify new genetic loci involved in the regulation of toxicity ... It is necessary to employ powerful strategies to screen and to identify new genetic loci involved in the regulation of toxicity ... Wang D. (2019) Strategies to Screen and to Identify New Genetic Loci Involved in the Regulation of Toxicity of Environmental ... Strategies to Screen and to Identify New Genetic Loci Involved in the Regulation of Toxicity of Environmental Toxicants or ...
... showing that there are now many solid genetic factors underlying PD. We also estimate that genetic factors explain at least one ... these results expand the set of genetic factors discovered to date and imply that many more associations remain to be found. ... We report two novel genetic associations and replicate a total of twenty previously described associations, ... Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinsons Disease. ...
In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function.. ... Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. dc.date. ... Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. ... Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nature ...
Based on this map, 20 loci, including eight novel loci, associated with P efficiency-related traits were identified across ... Based on this map, 20 loci, including eight novel loci, associated with P efficiency-related traits were identified across ... Here, we reported the construction of a high-density genetic map using a specific-locus amplified fragment sequencing (SLAF-seq ... Notably, a highly significant novel QTL located on chromosome 4, q4-2, was identified across traits, years and treatments. ...
... ρgenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta- ... Novel genetic loci underlying human intracranial volume identified through genome-wide association Nat Neurosci. 2016 Dec;19(12 ... Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after ... These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological ...
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for ... You are here: Home / Publications / Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood ... Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for ... Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for ...
Genetic Diversity in Mycobacterium ulcerans Isolates from Ghana Revealed by a Newly Identified Locus Containing a Variable ... Genetic Diversity in Mycobacterium ulcerans Isolates from Ghana Revealed by a Newly Identified Locus Containing a Variable ... Genetic Diversity in Mycobacterium ulcerans Isolates from Ghana Revealed by a Newly Identified Locus Containing a Variable ... Genetic Diversity in Mycobacterium ulcerans Isolates from Ghana Revealed by a Newly Identified Locus Containing a Variable ...
Previous work in our laboratory has identified three loci (Ity, Ity2 and Ity3) in the wild-derived MOLF/Ei mice influencing ... Fine mapping of the Ity3 locus indicated that two sub-loci contribute collectively to the susceptibility of B6.MOLF-Ity/Ity3 ... Fine mapping of the Ity3 locus indicated that two sub-loci contribute collectively to the susceptibility of B6.MOLF-Ity/Ity3 ... Selp was identified as a strong candidate gene for the Ity3.2 sub-locus. ...
Genetic Analysis Using an Isogenic Mating Pair of Aspergillus fumigatus Identifies Azole Resistance Genes and Lack of MAT ... The merger involves sexual recombination, selection of desired traits, and genomics to identify any associated loci. We ... We then employed a relatively inexpensive, yet highly powerful strategy to identify genomic loci associated with azole ... mating types and used them to investigate whether mating type is associated with virulence and to find the genetic loci ...
We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated ... A genome-wide association study identifies genetic loci associated with specific lobar brain volumes. Publication. Publication ... A genome-wide association study identifies genetic loci associated with specific lobar brain volumes. Communications Biology, 2 ... We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 ...
... loci. These loci have not been previously identified in case-control SLE genetic studies. Bioinformatic analyses implicated ... Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic ... To study genetic heterogeneity in SLE, we performed a case - case study comparing patients with high vs low IFN-α in over 1550 ... the study of informative pathogenic sub-phenotypes becomes an attractive strategy for genetic discovery in complex disease. ...
Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and ... Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and ... BACKGROUND: Regulatory elements may be involved in the mechanisms by which 52 loci influence myocardial mass, reflected by ... We further performed functional annotation on QRS-associated loci using these maps of differentially active regulatory elements ...
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial ... 2020). Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across ... We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. ... it is not known whether genetic variants identified to date also associate with risk of CHD in ... ...
Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease ... Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease ... Genetic variants that regulate methylation at CpG residues are known as methylation quantitative trait loci (meQTL). Genetic ... methylation and gene expression surrounding previously identified PCOS risk loci and identifying relationships between genetic ...
Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.. ... Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.. ... Future studies of the identified loci and genes might identify novel targets for treatment and prevention of allergic rhinitis. ... To elucidate the genetic architecture and understand the underlying disease mechanisms, we carried out a meta-analysis of ...
Case-only Methods Identified Genetic Loci Predicting a Subgroup of Men with Reduced Risk of High-grade Prostate Cancer by ... Case-only Methods Identified Genetic Loci Predicting a Subgroup of Men with Reduced Risk of High-grade Prostate Cancer by ... Case-only Methods Identified Genetic Loci Predicting a Subgroup of Men with Reduced Risk of High-grade Prostate Cancer by ... Case-only Methods Identified Genetic Loci Predicting a Subgroup of Men with Reduced Risk of High-grade Prostate Cancer by ...
Identifying Novel Genetic Loci associated with Primary Open-Angle Glaucoma Sangbea Kim; Zhihua Qi; Yuhong Chen; Yumei Li; ... Identifying Novel Genetic Loci associated with Primary Open-Angle Glaucoma You will receive an email whenever this article is ... Identifying Novel Genetic Loci associated with Primary Open-Angle Glaucoma. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5142. ... Currently, over 20 loci have been identified through multiple genome-wide association studies (GWAS). However, only about 10% ...
... association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. In: ... Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility ... Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility ... Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility ...
To identify common genetic variants associated with this migraine type, we analyzed genome-wide association data of 2,326 ... They identify two loci that are newly associated with migraine without aura. Migraine without aura is the most common form of ... This study identifies the first susceptibility loci for migraine without aura, thereby expanding our knowledge of this ... We selected SNPs from 12 loci with 2 or more SNPs associated with P values of ,1 × 10−5 for replication testing in 2,508 ...
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.. ... we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci ... Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown ... In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and ...
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for ... Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for ... 2015-trans-ancestry_genome-wide_association_study_identifies-post-print.pdf. 1.26 MB. Adobe PDF. OPEN ...
Multiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less ... A genome-wide association meta-analysis identifies new childhood obesity loci.. Bradfield JP1, Taal HR, Timpson NJ, Scherag A, ... with each locus achieving genome wide significance (P , 5×10−8) indicated in black text. In addition, the novel loci uncovered ... we observed two loci that yielded genome-wide significant combined P values near OLFM4 at 13q14 (rs9568856; P = 1.82 × 10(-9); ...
  • Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including TYRO3 and PLAU. (finna.fi)
  • We also identify quantitative trait loci (QTL) that control this variation. (genetics.org)
  • Even though the idea that recombination frequencies can be genetically dissected, as any other quantitative trait, was first proposed long ago ( R asmusson 1927 ), to our knowledge, no quantitative trait loci (QTL) affecting recombination rates have been reported in any species. (genetics.org)
  • Our approach to identify quantitative trait loci influencing global meiotic recombination frequencies utilizes recombinant inbred (RI) mapping populations that have been developed for many plants and animals and where segregation of genes influencing the recombination frequency across the entire genome can be observed. (genetics.org)
  • 3.A. Develop inbred broccoli lines with tolerance to high temperature stress, elucidate the underlying genetic control of the tolerance, and identify quantitative trait loci (QTL) and associated DNA-based markers for the tolerance. (usda.gov)
  • The team discovered that the additional 111 loci and previously known 76 loci regulate the expression of at least 266 genes that neighbour the identified disease loci. (ucl.ac.uk)
  • The vast majority of these loci were found outside of gene coding regions but coincided with regulatory 'hotspots' that alter the expression of these genes in body fat. (ucl.ac.uk)
  • They are currently investigating whether these loci alter the expression of the same genes in other tissues such as the pancreas, liver and skeletal muscle that are also relevant to type 2 diabetes. (ucl.ac.uk)
  • What we wanted to do was to identify genes that increase the risk of obesity using large-scale methods that involved examining the entire genome in a large number of subjects. (healthcanal.com)
  • There are several millions of common variants distributed throughout the entire genome, but since many of these variants are located between two genes rather than within one gene, scientists usually talk about genetic loci rather than genes. (healthcanal.com)
  • The confidence intervals of almost all QTLs were refined significantly, and the accuracy of this map was evidenced by coincident detections of the previously identified P efficiency-related genes GmACP1 and GmPT1 . (frontiersin.org)
  • This murine experimental model has been used to identify several genes and pathways involved in disease pathogenesis ( 5 - 9 ). (frontiersin.org)
  • As there is limited genetic variation within the classical inbred strains, the use of wild-derived strains of mice, such as MOLF/Ei contributes added genetic diversity and has allowed for the identification of novel genes that play an important role in innate immunity ( 10 - 13 ). (frontiersin.org)
  • Genetic Analysis Using an Isogenic Mating Pair of Aspergillus fumigatus Identifies Azole Resistance Genes and Lack of MAT Locus's Role in Virulence. (sigmaaldrich.com)
  • Future studies of the identified loci and genes might identify novel targets for treatment and prevention of allergic rhinitis. (eur.nl)
  • Functional testing of selected candidate genes and loci is performed using animal model. (arvojournals.org)
  • The sentinel SNPs at the 12 new loci point to genes involved in vascular smooth muscle (IGFBP3, KCNK3, PDE3A and PRDM6) and renal (ARHGAP24, OSR1, SLC22A7 and TBX2) function. (ox.ac.uk)
  • Till the current study, the associated genes were not identified. (medindia.net)
  • However, only a small number of genes related to face morphology have been identified to date. (biomedcentral.com)
  • 13 ] confirmed the association of the PAX3 locus in European subjects, and further identified four novel genetic variants affecting face morphology close to the genes PRDM16, TP63, C5orf50 , and COL17A1 . (biomedcentral.com)
  • In Drosophila , P -element mutagenesis provides a convenient method to identify, isolate and clone tagged genes ( Mechler 1994 ). (g3journal.org)
  • Brooks M. New Schizophrenia Genes Identified. (medscape.com)
  • To identify genes influencing blood pressure response to an angiotensin II receptor blocker, single nucleotide polymorphisms identified by genome-wide association analysis of the response to candesartan were validated by opposite direction associations with the response to a thiazide diuretic, hydrochlorothiazide. (biomedsearch.com)
  • These results support the use of genomewide association analyses to identify novel genes predictive of opposite direction associations with blood pressure responses to inhibitors of the renin-angiotensin and renal sodium transport systems. (biomedsearch.com)
  • Findings that neonatal diabetes is most commonly due to activating mutations in genes encoding the ATP-sensitive potassium channel subunits Kir6.2 or SUR1 and can be treated with high-dose sulfonylureas despite being insulin dependent also provide a compelling case for genetic evaluation of monogenic diabetes with therapeutic and prognostic implications ( 2 - 6 ). (diabetesjournals.org)
  • while chrX contains approximately 5% of genomic DNA, hence being comparable in size to chromosome 7, and encodes for more than 1,500 genes, only around 20 unique significantly associated X-chromosomal loci in total are recorded in the catalog. (prolekare.cz)
  • Genetic variation , variation in alleles of genes, occurs both within and among populations. (medicalxpress.com)
  • The identified genes open up new molecular biological approaches for a better understanding of lung development and of the repair and remodelling processes during disease pathogenesis. (eurekalert.org)
  • Combining gene-based p -values across endometriosis and migraine, three genes, two ( TRIM32 and SLC35G6) of which are at novel loci, were genome-wide significant. (mdpi.com)
  • two loci near the NID2 and HLA-DRB5 genes associated with WHR after adjustment for BMI, and three loci near the CEP120, TSC22D2, and SLC22A2 genes associated with WC without adjustment for BMI. (unc.edu)
  • Utilize PCR-based markers and other genomic technologies to identify sequences linked to the studied characters and to locate controlling genes on linkage maps. (usda.gov)
  • The results from the first study of its kind were published in 2005 and since then, the genes underlying hundreds of diseases - including hypertension and type 1 diabetes - have been identified. (medicalnewstoday.com)
  • according to the authors, they "were able to identify 70 genomic loci significantly associated with cognition, implicating 350 candidate genes underlying cognitive ability. (medicalnewstoday.com)
  • The researchers note that the genetic loci identified by their analyses do not necessarily represent disease-causing genes. (nih.gov)
  • These three genes, together with previously identified ones, explained over 50% of eye color variance, representing the highest accuracy achieved so far in genomic prediction of complex and quantitative human traits. (redorbit.com)
  • The Mohlke lab is currently identifying genetic variants and genes that influence common human traits with complex inheritance patterns, and is seeking to understand the biological function of the identified variants and genes. (wikipedia.org)
  • Moreover, an association has been established between common genetic variants within known microcephaly genes (such as MCPH1 and CDK5RAP2) and normal variation in brain structure as measured with magnetic resonance imaging (MRI)‍-‌i.e., primarily brain cortical surface area and total brain volume. (wikipedia.org)
  • Various methods have been used to identify imprinted genes. (wikipedia.org)
  • Using the Immunochip custom SNP array, which was designed for dense genotyping of 186 loci identified through genome-wide association studies (GWAS), we analyzed 11,475 individuals with rheumatoid arthritis (cases) of European ancestry and 15,870 controls for 129,464 markers. (unboundmedicine.com)
  • We further performed genome-wide association study (GWAS) analyses of allergic sensitization against inhalant allergens and nonallergic rhinitis, which suggested shared genetic mechanisms across rhinitis-related traits. (eur.nl)
  • GWAS have provided insight into the genetic architecture of many complex diseases, including PCOS. (prolekare.cz)
  • Currently, over 20 loci have been identified through multiple genome-wide association studies (GWAS). (arvojournals.org)
  • Recent genome-wide association studies (GWAS) have identified over 50 significant loci containing common variants associated with coronary artery disease. (cdc.gov)
  • Five SNPs identified in the GWAS met genome-wide statistical significance for association with at least one iron measure, rs2698530 on chr. (cdc.gov)
  • Assessing the credibility of the proposed relationships between genetic variants, but there are now increasing numbers of human genetic variation and various diseases and traits is a genome wide association studies (GWAs) that seek to discover rapidly growing challenge. (cdc.gov)
  • 5 × 10 − 6 were selected to determine the replication of the associations, and meta-analysis of discovery GWAS and the replication analysis resulted in five genome-wide significant loci. (biomedcentral.com)
  • 12 ] conducted a genome-wide association study (GWAS) and found that a genetic variant of the PAX3 locus was associated with nose shape. (biomedcentral.com)
  • In this study, we conducted a genome-wide association study (GWAS) to identify common genetic variants that are associated with the risk of IA, using 1383 aSAH subjects and 5484 control individuals in the Japanese population. (fujita-hu.ac.jp)
  • and I chair the Analytic Working Group for the NCI's "post-GWAS" GAME-ON consortium, which aims to better understand the biological mechanisms underlying GWAS-identified cancer risk markers at five cancer sites (including breast and lung) and their public health implications. (harvard.edu)
  • Genome-wide association studies (GWAS) have discovered a wealth of loci associated with complex phenotypes with almost 5,800 significant associations for more than 500 different phenotypes reported in the NHGRI GWAS catalog [1] (accessed August 13, 2013). (prolekare.cz)
  • GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. (sanger.ac.uk)
  • Genome-wide association studies (GWAS) allow scientists to assess whether certain genetic locations are related to specific traits. (medicalnewstoday.com)
  • Before this year, genome-wide association studies (GWAS) had identified 30 genetic regions linked to schizophrenia. (nih.gov)
  • Relying on these " umbrella diagnoses ", genetic analyses, including genome-wide association studies (GWAS), were undertaken but failed to provide insight into the biological basis of these disorders. (mdpi.com)
  • Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and psychiatric illnesses, and brain structure. (uio.no)
  • In conclusion we identify novel genetic loci and pathways contributing to the heritability of general cognitive function. (uio.no)
  • The present study was conducted within the GIANT (Genetic Investigation of ANthropometric Traits) Consortium and comprises almost 100 studies with some 400 co-authors. (healthcanal.com)
  • Based on this map, 20 loci, including eight novel loci, associated with P efficiency-related traits were identified across multiple years and treatments. (frontiersin.org)
  • Notably, a highly significant novel QTL located on chromosome 4, q4-2 , was identified across traits, years and treatments. (frontiersin.org)
  • The merger involves sexual recombination, selection of desired traits, and genomics to identify any associated loci. (sigmaaldrich.com)
  • Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (lifelines.nl)
  • Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. (lifelines.nl)
  • Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups. (lifelines.nl)
  • The method comprises comparing genotypic survey data to phenotypic data collected from the same entries used to create the genotypic survey and identifying genetic marker loci that are associated with traits. (epo.org)
  • In this study, RHM was used to identify loci underlying variation in the 16th QTLMAS workshop simulated traits. (biomedcentral.com)
  • A combined analysis including all significant regions showed that they explain more than half of the total genetic variance of the traits. (biomedcentral.com)
  • The aim of this study was to identify QTL affecting the three traits simulated in the 16th QTL-MAS workshop dataset and recover their possible pleiotropic actions, using RHM. (biomedcentral.com)
  • The GTEx Consortium, which has been working for 10 years, analyzed how genetic variants affect gene regulation, and how this contributes to disease and traits. (genomeweb.com)
  • The heritability of craniofacial traits has been reported to be 0.8 based on analysis of the lateral cephalogram from X-ray profiles of parents and their offspring [ 8 ] or 0.41-0.86 based on twin studies [ 9 ], suggesting that face morphology is more strongly determined by genetic factors than environmental factors. (biomedcentral.com)
  • Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. (ox.ac.uk)
  • Genome-wide association studies (GWASs) have identified loci for erythrocyte traits in primarily European ancestry populations. (elsevier.com)
  • We identified seven loci for erythrocyte traits including a locus (RBPMS/GTF2E2) associated with mean corpuscular hemoglobin and mean corpuscular volume. (elsevier.com)
  • Our findings show the utility of trans-ethnic GWASs for discovery and characterization of genetic loci influencing hematologic traits. (elsevier.com)
  • Twin studies estimate the influences of all genetic variants and effects, but, due to relying purely on relatedness information, are limited in explaining the specific genetic mechanisms and architecture underlying psychiatric traits. (wikipedia.org)
  • By using a linear mixed model, we estimate that on average 2.6% of the additive genetic variance in these twelve traits is attributable to chrX, this being in proportion to the number of SNPs in the chromosome. (prolekare.cz)
  • In conclusion, our study provides a clear motivation for including chrX in large-scale genetic studies of complex diseases and traits. (prolekare.cz)
  • Behavioural genetics has revealed that most quantitative traits are heritable, suggesting that these phenotypic correlations may share genetic aetiologies. (cambridge.org)
  • The series covers genetic improvement of plant biomass traits for downstream processing and bio-production. (biomedcentral.com)
  • 2. Utilize genomic tools to develop genetic linkage maps for watermelon and diagnostic DNA-based markers for host-plant resistance to viruses and key watermelon fruit traits. (usda.gov)
  • 2.B. Identify and map DNA sequences associated with watermelon fruit quality traits (e.g., fruit size and shape, flesh color and texture, carotenoid levels, and soluble content). (usda.gov)
  • Characterisation and genetic mapping of traits responsible for production of artemisinin in Artemisia annua has enabled development of F1 hybrid seed that can deliver a robust source of this vital antimalarial medication for the developing countries. (wikipedia.org)
  • In addition, a genetic risk score based on SNPs not individually associated with PCOS was found to be significantly associated with PCOS in Caucasian subjects [ 10 ], suggesting that some or all of the variants identified in Chinese populations are likely also risk variants in Caucasians. (prolekare.cz)
  • Additional effect-modifying SNPs with moderate statistical significance were identified by case-only trees and random forests. (aacrjournals.org)
  • In conclusion, case-only methods identified SNPs that modified the effect of finasteride on the risk of high-grade prostate cancer and predicted a subgroup of men who had reduced cancer risk by finasteride. (aacrjournals.org)
  • Candidate SNPs and loci are further validated by genotyping additional 1000 cases. (arvojournals.org)
  • The sentinel blood pressure SNPs are enriched for association with DNA methylation at multiple nearby CpG sites, suggesting that, at some of the loci identified, DNA methylation may lie on the regulatory pathway linking sequence variation to blood pressure. (ox.ac.uk)
  • To improve the resolution of the association signals identified, non-genotyped SNPs were imputed in these regions using a dense reference panel of SNP genotypes from the 1000 Genomes Project. (bmj.com)
  • Genome-wide association studies can have limited power to identify QTL, partly due to the stringent correction for multiple testing and low linkage-disequilibrium between SNPs and QTL. (biomedcentral.com)
  • The relationship matrix modelling the overall genetic background was estimated using all SNPs, whereas the one for the region was estimated using the SNPs falling within that region. (biomedcentral.com)
  • Here, we use the term `credibility' to novel genetic risk factors by testing several hundred thousand refer to the likelihood that an association exists after some single nucleotide polymorphisms (SNPs) per participant. (cdc.gov)
  • Interestingly, four SNPs within these five face morphology-related loci showed discrepancies in allele frequencies among ethnic groups. (biomedcentral.com)
  • Genome-wide genotyping was performed, and 12 previously identified single-nucleotide polymorphisms (SNPs) were selected for replication and categorized as 'glycaemic' and 'nonglycaemic' SNPs according to their presumed mechanism(s) of action on HbA1c. (wiley.com)
  • We replicated three of the previously identified SNPs and the GRSs were also found to be independently associated with HbA1c. (wiley.com)
  • Nevertheless, almost 1% of genetic variance in height and BMI has been shown to be accountable to chrX SNPs [2] , demonstrating that common genetic variation in chrX contributes to complex phenotypes. (prolekare.cz)
  • As reported in the July 24, 2014, edition of Nature , the researchers found that 108 genetic regions had tiny variations (single-nucleotide polymorphisms, or SNPs) that were significantly associated with schizophrenia risk. (nih.gov)
  • Bioinformatic analyses generated strong hypotheses for the causal SNP at seven loci. (unboundmedicine.com)
  • Genetic analyses have suggested that M. ulcerans recently diverged from M. marinum ( 5 , 21 , 26 ), which is a well-known fish pathogen and can cause limited granulomatous skin infections in humans ( 10 , 11 , 13 ). (asm.org)
  • Bioinformatic analyses implicated these loci functionally in dendritic cells and natural killer cells, both of which are involved in IFN-α production in SLE. (ovid.com)
  • I have collaborated on numerous analyses in the NHS and HPFS examining associations between genetic markers, behaviors (including diet and smoking), and risk of complex diseases. (harvard.edu)
  • My current methodological research focuses on 1) efficient and interpretable "gene x environment interaction" analyses, 2) genetic risk prediction using common and rare genetic variation, biomarkers (including metabolites), and clinical and environmental risk factors, and 3) methods linking low-frequency variation, emerging functional annotation, and risk of complex disease. (harvard.edu)
  • Our genetic correlation analyses demonstrate that alleles associated with higher reproductive output (number of children ever born, r g = 0.50, P = 0.0065) were positively correlated with alleles associated with antisocial behaviour, whereas alleles associated with more delayed reproductive onset (age at first birth, r g = −0.64, P = 0.0008) were negatively associated with alleles linked to antisocial behaviour. (cambridge.org)
  • However, gene-based analyses identified two novel loci for migraine. (mdpi.com)
  • Functional enrichment analyses revealed enrichment of corticotropin-releasing hormone signaling, GNRH signaling, and/or CDK5 signaling pathways for those newly-identified loci. (unc.edu)
  • For example, 80% of the currently missing heritability for Crohn's disease could be due to genetic interactions, if the disease involves interaction among three pathways. (pnas.org)
  • In addition to highlighting potential pathogenetic mechanisms, such signatures might identify promising subtype-specific targets and pathways for therapeutic intervention. (bloodjournal.org)
  • Many of the identified variations converged around pathways with suspected ties to schizophrenia. (nih.gov)
  • Genetic studies provide a window into the downstream cascade of maladaptive responses and pathways that lead to tissue fibrosis. (jci.org)
  • This Review focuses on biologic pathways implicated by human genetic studies of pulmonary fibrosis. (jci.org)
  • No disease with a genetic predisposition has been more intensely investigated than type 2 diabetes. (ucl.ac.uk)
  • Topics covered include genetic predisposition, foundations of β-cell failure, natural history of β-cell failure, and impact of therapeutic interventions. (diabetesjournals.org)
  • Scientists are closer to understanding the genetic causes of type 2 diabetes by identifying 111 new chromosome locations ('loci') on the human genome that indicate susceptibility to the disease, according to a UCL-led study in collaboration with Imperial College London. (ucl.ac.uk)
  • The team found that all three loci overlapped with areas of the chromosome containing multiple regulatory elements and epigenetic markers along with candidate causal mutations for type 2 diabetes that can be further investigated. (ucl.ac.uk)
  • The strongest evidence was seen for the ORMDL3 / GSDMB locus on chromosome 17q12-21 (rs4794820, p=1.03×10 (−8) following meta-analysis) meeting genome-wide significance. (bmj.com)
  • Classical genetic approaches relying on meiotic recombination and subsequent complementation with chromosomal deletions and gene mutations mapped the mutation to CG6169, the mRNA decapping protein 2 ( DCP2 ), on the left arm of the third chromosome (3L). (g3journal.org)
  • In the discovery cohort, we identified a single locus (rs17185536-T) on chromosome 6 near the single-minded family basic helix-loop-helix transcription factor 1 ( SIM1 ) gene that was significantly associated with the risk of erectile dysfunction (odds ratio = 1.26, P = 3.4 × 10 −25 ). (pnas.org)
  • To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. (elsevier.com)
  • To identify common genetic variants associated with this migraine type, we analyzed genome-wide association data of 2,326 clinic-based German and Dutch individuals with migraine without aura and 4,580 population-matched controls. (nature.com)
  • The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. (rug.nl)
  • Genetic correction of PSA values using sequence variants associated with PSA levels. (sanger.ac.uk)
  • Variable number of tandem repeat (VNTR) typing is a PCR-based technique for identifying alleles of defined regions of DNA that contain variable numbers of copies of short sequence stretches. (asm.org)
  • Furthermore, we performed functional analysis with the associated genetic variants on EDNRA, and identified two alleles of rs6841581 that have different binding affinities to a nuclear protein(s). (fujita-hu.ac.jp)
  • In the absence of B6 protective alleles at Idd3, we detected a second T1D protective B6 locus, Idd18.3, which is closely linked to, but distinct from, Idd18.1. (ox.ac.uk)
  • Genetic risk scores (GRSs) were calculated as the sum of the weighted effect of HbA1c-increasing alleles. (wiley.com)
  • Recombination of alleles is required to efficiently evolve new genetic varieties. (genetics.org)
  • No alleles have been identified for ENSDARG00000008785 yet. (sanger.ac.uk)
  • Cellulose acetate electrophoresis identified five variable loci with 16 alleles. (mendeley.com)
  • The discovery of forces counterbalancing inherited risk alleles identifies potential therapeutic targets, thus providing hope for future prevention or reversal of fibrosis. (jci.org)
  • For these sporadic patients, weaker genetic risk alleles contribute to the pathogenesis of fibrosis. (jci.org)
  • Less commonly, patients have similarly affected family members and share more highly penetrant genetic risk alleles. (jci.org)
  • At the 17q21.31 locus, stepwise regression analysis confirmed the presence of multiple independent loci (localized near MAPT and KANSL1 ). (springer.com)
  • Global collaboration with researchers from the Danish iPSYCH project, the Broad Institute at Harvard and MIT, Massachusetts General Hospital, SUNY Upstate Medical University, and the Psychiatric Genomics Consortium have been able to identify 12 independent loci on the genome where mutations can lead to ADHD. (medindia.net)
  • The researchers then carried out a targeted follow-up of the 42 gene variants with the strongest BMI correlation in an additional 125,931 individuals, from which they were able to confirm the 14 previously known gene loci and identify 18 new loci associated with BMI. (healthcanal.com)
  • Six gene loci here displayed a clear association with the FVC values. (eurekalert.org)
  • An intriguing study surveying the transcriptome of murine brain tissues revealed over 1300 imprinted gene loci (approximately 10-fold more than previously reported) by RNA-sequencing from F1 hybrids resulting from reciprocal crosses. (wikipedia.org)
  • The results demonstrated that with minimal investment into the sequencing of three pools from a cross of interest, the variation(s) that contribute any phenotype can be identified with nucleotide resolution. (sigmaaldrich.com)
  • My research concentrates on the design and analysis of genetic association studies, with particular emphasis on studies linking variation in germline DNA to cancer risk. (harvard.edu)
  • Hence, our results show one of the first links between phenotypic variation in a population sample and an XCI-escaping locus and pinpoint ITM2A as a potential contributor to the sexual dimorphism in height. (prolekare.cz)
  • Genetic variation is important because it provides the "raw material" for natural selection. (medicalxpress.com)
  • Rather, the links may indicate the presence of disease-causing variation in nearby genetic zones. (nih.gov)
  • Elucidating the contribution of normal genetic variation to (disease) phenotypes, and so re-defining disease entities, will be extremely labor-intense but crucial. (mdpi.com)
  • Three new genetic loci have been identified with involvement in subtle and quantitative variation of human eye color. (redorbit.com)
  • Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. (sanger.ac.uk)
  • No novel loci for susceptibility to severe asthma met strict criteria for genome-wide significance. (bmj.com)
  • In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. (ox.ac.uk)
  • In the same issue of Nature Genetics, GIANT scientists publish an article describing major sex differences in how genetic factors affect the distribution of body fat. (healthcanal.com)
  • A new large-scale association analysis coordinated by scientists from the International Agency for Research on Cancer (IARC) and published in Nature Genetics identifies new lung cancer susceptibility loci. (who.int)
  • 2014): Genome-wide association analysis identifies six new loci associated with forced vital capacity, Nature Genetics (2014). (eurekalert.org)
  • 5 × 10 − 8 , including replication of 3 loci from previous studies and 2 novel loci at 6p21.1 and 12p12.1 (near RUNX2 and SLCO1A2 , respectively). (springer.com)
  • To study genetic heterogeneity in SLE, we performed a case - case study comparing patients with high vs low IFN-α in over 1550 SLE cases, including genome-wide association study and replication cohorts. (ovid.com)
  • To elucidate the genetic architecture and understand the underlying disease mechanisms, we carried out a meta-analysis of allergic rhinitis in 59,762 cases and 152,358 controls of European ancestry and identified a total of 41 risk loci for allergic rhinitis, including 20 loci not previously associated with allergic rhinitis, which were confirmed in a replication phase of 60,720 cases and 618,527 controls. (eur.nl)
  • 29 Department of Twin Research and Genetic Epidemiology, Kings College London, London, UK. (nih.gov)
  • With the ing genetic epidemiology results are published annually.1 This application of such massive genomic testing platforms to large field started with assessments of small numbers of `candidate' case-control and cohort studies2, the amount of information per study and overall is increasing very rapidly. (cdc.gov)
  • However, while sociological exposures are still widely studied in psychiatric epidemiology, the field has since expanded to the study of a wide area of environmental risk factors, such as major life events, as well as genetic exposures. (wikipedia.org)
  • Given the large contribution of genetic variants on psychiatric disorders, one major focus of psychiatric epidemiology is psychiatric genetics. (wikipedia.org)
  • We conducted a large-scale genome-wide association study of erectile dysfunction in 36,649 men in the multiethnic Kaiser Permanente Northern California Genetic Epidemiology Research in Adult Health and Aging cohort. (pnas.org)
  • The Institutes of Epidemiology I and II (EPI I, EPI II), the Institute of Genetic Epidemiology (IGE) and the Comprehensive Pneumology Center (CPC) at the HMGU were involved. (eurekalert.org)
  • The Institute of Epidemiology I (EPI I) conducts research into the significance of environmental and lifestyle factors, genetic constitution and metabolism in the genesis and progression of respiratory, metabolic and allergic diseases, as well as of selected types of cancer. (eurekalert.org)
  • The study, published today in The American Journal of Human Genetics , used a method developed at UCL based on highly informative genetic maps to investigate complex disorders such as type 2 diabetes. (ucl.ac.uk)
  • This provides a larger number of characterised loci for scientists to study and will allow us to build a more detailed picture of the genetic architecture of type 2 diabetes," explained lead author, Dr Nikolas Maniatis (UCL Genetics, Evolution & Environment). (ucl.ac.uk)
  • We are also very excited that most of the identified disease loci appear to confer risk of disease in diverse populations such as African Americans, implying our findings are likely to be universally applicable and not just confined to Europeans," added Dr Winston Lau (UCL Genetics, Evolution & Environment). (ucl.ac.uk)
  • We here introduced the usefulness of transcriptomic analysis, proteomic analysis, forward genetics, and reverse genetics in screening and in identifying new genetic loci involved in the regulation of toxicity of environmental toxicants or stresses. (springer.com)
  • In this study, we applied a quantitative genetics approach to identify factors controlling meiotic recombination frequencies. (genetics.org)
  • Advances in genetics have increased the ease and decreased the cost of identifying genetic differences that contribute to disease susceptibility. (jci.org)
  • Before we can conduct the functional studies required in order to better understand the molecular basis of this disease, we first need to identify as many plausible candidate loci as possible. (ucl.ac.uk)
  • Genetic maps are key to this task, by integrating the cross-platform genomic data in a biologically meaningful way," added co-lead author, Dr Toby Andrew (Imperial College London, Department of Genomics of Common Disease). (ucl.ac.uk)
  • Three loci present in African American and European populations were analysed further using deep sequencing in an independent sample of 94 European patients with type 2 diabetes and 94 control subjects in order to identify genetic mutations that cause the disease. (ucl.ac.uk)
  • We identified 14 new susceptibility loci, 9 of which were associated with rheumatoid arthritis overall and five of which were specifically associated with disease that was positive for anticitrullinated peptide antibodies, bringing the number of confirmed rheumatoid arthritis risk loci in individuals of European ancestry to 46. (unboundmedicine.com)
  • Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease for which the genetic contribution is incompletely understood. (springer.com)
  • We analyzed the genetic correlation with multiple neurodegenerative diseases, and found that PSP had shared polygenic heritability with Parkinson's disease and amyotrophic lateral sclerosis. (springer.com)
  • While the disease shares neuropathological overlap with other tauopathies, the polygenic genetic correlation with other neurodegenerative diseases remains to be clarified. (springer.com)
  • As case-control studies of heterogeneous diseases reach a limit of feasibility with respect to subject number and detectable effect size, the study of informative pathogenic sub-phenotypes becomes an attractive strategy for genetic discovery in complex disease. (ovid.com)
  • Functional studies of these novel loci/gene will provide additional insights of the disease. (arvojournals.org)
  • However, these variants explain only 26% of the genetic heritability of the disease, suggesting that many more variants remain to be discovered. (cdc.gov)
  • However, association studies to date have mostly focused on mild to moderate disease and genetic risk factors for severe asthma remain unclear. (bmj.com)
  • Conclusions The largest genome-wide association study of severe asthma to date was carried out and strong evidence found for the association of two previously identified asthma susceptibility loci in patients with severe disease. (bmj.com)
  • Conclusions: Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease. (finna.fi)
  • Recent multi-dimensional approaches to the study of complex disease have revealed powerful insights into how genetic and epigenetic factors may underlie their aetiopathogenesis. (exeter.ac.uk)
  • To identify this hypothetical intermediate, in Germany and later in other countries such as Scotland, we performed single nucleotide polymorphism analysis by Finland, and Australia, are increasingly associated with sequencing of 92 randomly distributed backbone genomic severe disease ( 4 ). (cdc.gov)
  • Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease with recognized variability in clinical outcome, genetic features, and cells of origin. (bloodjournal.org)
  • Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (sanger.ac.uk)
  • Also, a new genetic overlap was found between cognitive ability and the risk of autoimmune diseases, such as eczema , Crohn's disease , rheumatoid arthritis , and celiac disease . (medicalnewstoday.com)
  • For the first time, we were able to use genetic information to point us towards specific drugs that might aid in cognitive disorders of the brain, including Alzheimer's disease , schizophrenia , and attention deficit hyperactivity disorder. (medicalnewstoday.com)
  • But because these earlier studies tended to analyze relatively small numbers of people, each individual study was too limited to detect common genetic variations that might exert subtle effects on disease risk. (nih.gov)
  • Genetic investigations of fibrotic diseases, including those of late onset, often yield unanticipated insights into disease pathogenesis. (jci.org)
  • In addition, these studies reveal interactions between genetic variants, environmental factors, and age that influence the phenotypic spectrum of disease. (jci.org)
  • In the absence of gene-environmental studies (such as family-based monozygotic and dizygotic twin studies), estimates of genetic and environmental contributions to disease phenotypes and the interactions between the two are difficult to partition and quantify. (jci.org)
  • Researchers identify five genetic loci linked to the progression of Parkinson's disease. (flipboard.com)
  • A study has identified four distinct types of Alzheimer's disease, based on how the tau protein spreads in patients' brains. (flipboard.com)
  • Our findings suggest the primary mechanism for elevated androgen levels in PCOS may differ between non-obese and obese women with PCOS and that the clinical heterogeneity seen in PCOS may have genetic underpinnings. (prolekare.cz)
  • The new loci highlight the striking heterogeneity in genetic susceptibility across the histological subtypes of lung cancer. (who.int)
  • Given the documented clinical and genetic heterogeneity of DLBCLs, it would be useful to have comprehensive molecular signatures of tumors that share similar features. (bloodjournal.org)
  • However, even in family studies, locus heterogeneity, reduced penetrance, and lack of parental samples present obstacles to gene discovery. (jci.org)
  • DNA markers to highly polymorphic ITR loci in the human genome are identified and analyzed, using particularly preferred embodiments of the materials and methods of the present invention. (google.com.au)
  • We then employed a relatively inexpensive, yet highly powerful strategy to identify genomic loci associated with azole resistance. (sigmaaldrich.com)
  • More interestingly, more than 10 novel candidate loci were identified by either the single SNP test or the LHS method. (arvojournals.org)
  • In addition, at least 3 candidate loci have been confirmed in our validation cohort. (arvojournals.org)
  • Objective To identify common genetic variants affecting susceptibility to severe asthma. (bmj.com)
  • Molecular studies confirm findings from family studies that genetic variants can partly explain the occurrence of psychological problems, e.g. by quantifying the total contribution of common genetic variants. (wikipedia.org)
  • Tumors were also analyzed for known common genetic abnormalities in DLBCL. (bloodjournal.org)
  • We looked at DNA methylation and gene expression levels in these 11 loci in fat biopsies from women with and without PCOS. (prolekare.cz)
  • The first epigenome-wide association study of BMI identified DNA methylation at an HIF3A locus associated with BMI. (harvard.edu)
  • It is an epigenetic process that involves DNA methylation and histone methylation without altering the genetic sequence. (wikipedia.org)
  • Researchers studied the genetic structure of Viking Age Scandinavian populations, along with migrations and the adoption of Viking culture by non-Scandinavians. (genomeweb.com)
  • In their investigations or so-called genome-wide association studies, the team of researchers compared the genetic profile of study participants to the forced vital capacity (FVC), a volume parameter of lung function. (eurekalert.org)
  • Although researchers know that intelligence does have a heritable, genetic component, finding its home in the genetic code has been challenging. (medicalnewstoday.com)
  • The researchers identified three new loci significantly associated with quantitative eye color. (redorbit.com)
  • Type 2 diabetes is the world's most widespread and devastating metabolic disorder and previously only 76 loci were known and studied. (ucl.ac.uk)
  • European and African American sample populations comprising 5,800 type 2 diabetes case subjects and 9,691 control subjects were analysed, revealing multiple type 2 diabetes loci at regulatory hotspots across the genome. (ucl.ac.uk)
  • Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. (ox.ac.uk)
  • A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. (sanger.ac.uk)
  • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. (sanger.ac.uk)
  • In total, we identified 6 additional significant or suggestive SNP associations with PSP, and discovered genetic overlap with other neurodegenerative diseases. (springer.com)
  • Genetic loci identified in neurodegenerative disorders. (medscape.com)
  • We refined the peak of association to a single gene for 19 loci, identified secondary independent effects at 6 loci and identified association to low-frequency variants at 4 loci. (unboundmedicine.com)
  • Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. (nih.gov)
  • We reasoned that the inclusion of additional cases and controls could increase the statistical power for genome-wide association, potentially yielding novel loci that could provide insight into the molecular mechanisms of PSP and other more common tauopathies. (springer.com)
  • We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). (elsevier.com)
  • Genome-wide association study reveals three susceptibility loci for common migraine in the general population. (nature.com)
  • Results An association was confirmed in subjects with severe asthma of loci previously identified for association with mild to moderate asthma. (bmj.com)
  • A genome-wide association meta-analysis identifies new childhood obesity loci. (nih.gov)
  • Both loci continued to show association when two extreme childhood obesity cohorts were included (2,214 cases and 2,674 controls). (nih.gov)
  • Moreover, RHM identified extra loci that were not found by association and linkage analysis, highlighting the improved power of this approach. (biomedcentral.com)
  • A genome-wide association study focused on hundreds of immune cell features identified genetic risk variants involved in several autoimmune conditions. (genomeweb.com)
  • In addition, we found three independent association signals in the SOX9 locus, and six known loci for nose size and shape were replicated in this study population. (biomedcentral.com)
  • Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction. (harvard.edu)
  • To identify common variants that are associated with breast size, we conducted a large-scale genotyping association meta-analysis in 7169 women of European descent across three independent sample collections with digital or screen film mammograms. (bmj.com)
  • We also replicated previous genome-wide association study findings for breast size at four other loci. (bmj.com)
  • Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. (biomedsearch.com)
  • Furthermore an increasing number of specific genetic loci are being associated with psychiatric disorders in large genome-wide association studies Next to genetic exposures, a wide variety of environmental exposures are being studied as well, such as nutrition,[citation needed], urbanicity, stressful life events, and bullying. (wikipedia.org)
  • In October 2013, the Global Partnership to Accelerate Diabetes Research, cosponsored by the Endocrine Society and the American Diabetes Association, assembled international experts (see appendix ) to inform the global health research agenda by reviewing the state of the science and identifying pressing research needs related to β-cell dysfunction in T2D. (diabetesjournals.org)
  • In a chrX-wide association analysis, we identify three novel loci: two for height (rs182838724 near FGF16/ATRX/MAGT1 , joint P-value = 2.71×10 −9 , and rs1751138 near ITM2A , P-value = 3.03×10 −10 ) and one for fasting insulin (rs139163435 in Xq23, P-value = 5.18×10 −9 ). (prolekare.cz)
  • We use genome-wide association study data to estimate the genetic correlations between various measures of reproductive development ( N = 52 776-318 863) and antisocial behaviour ( N = 31 968). (cambridge.org)
  • A HuGE Review provides a starting point for analyzing the clinical validity of a genetic test based on evidence from genetic association studies. (cdc.gov)
  • Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (sanger.ac.uk)
  • Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (sanger.ac.uk)
  • Genome-wide association study identifies a common variant associated with risk of endometrial cancer. (sanger.ac.uk)
  • Multiple loci identified in a genome-wide association study of prostate cancer. (sanger.ac.uk)
  • These loci have not been previously identified in case-control SLE genetic studies. (ovid.com)
  • Sixty genetic loci associated with abdominal obesity, measured by waist circumference (WC) and waist-hip ratio (WHR), have been previously identified, primarily from studies conducted in European-ancestry populations. (unc.edu)
  • Six of these risk loci ( THADA , LHCGR , FSHR , DENND1A , YAP1 , INSR ) have been replicated in Caucasian populations [ 6 - 10 ]. (prolekare.cz)
  • A limited number of functional studies have evaluated the role of several of the newly identified PCOS risk loci, including LHCGR (Luteinizing hormone/choriogonadotropin receptor) and DENND1A (DENN/MADD domain containing 1A) [ 11 - 13 ]. (prolekare.cz)
  • In the Prostate Cancer Prevention Trial (PCPT), genotypes that may modify the effect of finasteride on the risk of prostate cancer have not been identified. (aacrjournals.org)
  • However, only about 10% of phenotypic variations can be explained by these loci combined, underscoring the need of further investigation of genetic risk factors of POAG. (arvojournals.org)
  • A gene cluster inherited by modern humans from Neanderthals was recently identified as a risk locus for respiratory failure following SARS-CoV-2 infection. (genomeweb.com)
  • Longitudinal volume reductions in people at high genetic risk of schizophrenia as they develop psychosis. (medscape.com)
  • Powerful evidence for a genetic component to T2D ( 1 ) has driven extensive efforts to identify genetic variants contributing to risk. (diabetesjournals.org)
  • Twin studies suggest that about one-third of the risk is due to genetic factors, independent of other known erectile dysfunction risk factors. (pnas.org)
  • As a result, there are no confirmed genetic risk factors for erectile dysfunction. (pnas.org)
  • Twin studies support the role of genetic risk factors underlying erectile dysfunction, but no specific genetic variants have been identified. (pnas.org)
  • Against the background of these findings, we can, for example identify possible risk groups and develop new therapeutic approaches", adds Dr. Christian Gieger (HMGU). (eurekalert.org)
  • These results underscore that genetic programming affects the brain in tiny, incremental ways that can increase the risk for developing schizophrenia," says Dr. Thomas Lehner, who heads NIMH's genomics research branch. (nih.gov)
  • Of the additional 111 loci identified by the team, 93 (84%) are found in both African American and European populations and only 18 are European-specific. (ucl.ac.uk)
  • We've proven the benefits of gene mapping to identify hundreds of locations where causal mutations might be across many populations, including African Americans. (ucl.ac.uk)
  • Finally, we describe a method for estimating heritability from isolated populations that is not inflated by genetic interactions. (pnas.org)
  • Our findings, therefore, imply a plausible role for the mRNA degradation pathway in tumorigenesis and identify DCP2 as a potential candidate for future explorations of cell cycle regulatory mechanisms. (g3journal.org)
  • While an understanding of the functional effect of a genetic variant may be initially elusive, these studies yield rich information regarding the inherited pathophysiology of fibrosis. (jci.org)
  • Atherosclerotic lesion sizes in the aortic root were measured and 149 genetic markers genotyped across the entire genome. (cdc.gov)
  • To this objective, we genotyped with a single nucleotide polymorphism ( SNP ) panel 795 Italian Large White heavy pigs to identify the markers and genomic regions associated with Semimembranosus muscle FA profile. (cambridge.org)
  • identify and map DNA-based markers closely linked to the resistance locus (loci). (usda.gov)
  • 4. Elucidate the genetic control of bacterial leaf spot resistance in leafy green Brassicas (B. juncea and B. rapa), identify DNA markers closely linked to the resistance locus (loci), and release resistant breeding lines developed in this project. (usda.gov)
  • Our results mean that we can now target the remaining loci on the genetic maps with deep sequencing to try and find the causal mutations within them. (ucl.ac.uk)
  • We demonstrate here that mutations affecting the RhoA signaling pathway also interact genetically with mutations in the Stubble-stubbloid ( Sb-sbd ) locus that encodes an unusual type II transmembrane serine protease required for normal leg and wing morphogenesis. (genetics.org)
  • We also characterized six mutations identified as enhancers of zipper mutant leg defects. (genetics.org)
  • Deletions and mutations in some of the loci identified by the team have already been associated with certain neuropsychiatric conditions, backing up the reliability of the study. (medicalnewstoday.com)
  • No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. (eur.nl)
  • An international team of scientists and doctors has identified a family of five new genetic diseases which are likely to affect more than 1 in 5000 children. (medicalxpress.com)
  • 1. Determine the genetic control of resistance to important diseases and pests of watermelon and release resistant breeding lines developed. (usda.gov)
  • The technique has proven vital for identifying genetic variants (also called single-nucleotide polymorphisms) that appear more often in certain diseases. (medicalnewstoday.com)
  • Intracranial aneurysms may result from diseases acquired during life, or from genetic conditions. (wikipedia.org)
  • Conclusions A new locus at 22q13 may be associated with female breast size. (bmj.com)
  • The molecular typing methods used so far for Mycobacterium ulcerans isolates have not been able to identify genetic differences among isolates from Africa. (asm.org)
  • Using pairwise genetic distances (FST), analysis of molecular variance (AMOVA), factorial correspondence analysis (FCA), and the unsupervised Bayesian clustering method found in STRUCTURE and TESS, ethno-linguistics were found to have a greater influence on population structure than geography. (uwc.ac.za)
  • Molecular mapping approaches identified the P -element ( P-lac w + ) to reside 94 bases downstream to the TATA box of Rab11 (located at the cytogenetic position 93B12-13), which is 45 bases upstream to the first exon of the gene and is a part of the 5′UTR (Mandal and Roy, unpublished). (g3journal.org)
  • Case-only classification trees and random forests, which are powerful machine learning methods with resampling-based controls for model complexity, were employed to identify a predictive signature for genotype-specific treatment effects. (aacrjournals.org)
  • Basically, RHM is a mixed model where the effect of a genomic region (attributable to the QTL within the region in question) plus the overall genetic background were added as random, with covariance structure proportional to the genetic relationship matrix calculated using genotype information. (biomedcentral.com)
  • We identified differences in the expression of two receptors that bind hormones known to contribute to the pathogenesis of PCOS-the receptors for luteinizing hormone (LH) and insulin. (prolekare.cz)
  • For instance, there are hundreds of known autosomal loci for height, BMI and blood lipids, but only one significant height locus has been identified in chrX, and this in individuals of African ancestry, and no X-chromosomal associations for these other highly polygenic phenotypes have been reported. (prolekare.cz)
  • We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. (eur.nl)
  • Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. (eur.nl)
  • Genetic factors have been known to play an important role in the development of intracranial aneurysm (IA), some of which further progress to subarachnoid hemorrhage (SAH). (fujita-hu.ac.jp)
  • Our study identifies a set of novel candidate POAG associated loci, some of which have been confirmed. (arvojournals.org)
  • This study identifies the first susceptibility loci for migraine without aura, thereby expanding our knowledge of this debilitating neurological disorder. (nature.com)
  • We analyzed the genetic diversity of 72 African isolates, including 57 strains from Ghana, by variable number of tandem repeat (VNTR) typing based on a newly identified polymorphic locus designated ST1 and the previously described locus MIRU 1. (asm.org)
  • Strain typing with these sets of polymorphic loci is becoming an important tool in the epidemiological analysis of tuberculosis ( 9 ), and ordinary agarose gel electrophoretic separation of PCR products is usually sufficient to estimate the number of repeat units in an allele. (asm.org)
  • We estimate that the 32 loci that we've found, together account for two to four per cent of the genetic causes of obesity, so much remains to be discovered," says Professor Ingelsson. (healthcanal.com)
  • however, less progress has been made in establishing genetic influences on common early-onset obesity. (nih.gov)
  • Our study provides additional insight on genetic contribution to abdominal obesity. (unc.edu)
  • An international group of 253 scientists has conducted one of the largest genetic studies to date and identified 74 genetic variants that are associated with the years of formal education that an individual completes. (medicalxpress.com)
  • Because schizophrenia tends to run in families, scientists have long suspected a genetic component. (nih.gov)
  • Figure 1: Regional and forest plots for the newly identified loci associated with migraine. (nature.com)
  • To identify robust and highly reproducible DL-BCL subtypes with comprehensive transcriptional signatures, we used a large series of newly diagnosed DLBCLs, whole genome arrays, and multiple clustering methods. (bloodjournal.org)
  • Multiple newly identified loci associated with prostate cancer susceptibility. (sanger.ac.uk)
  • This study was significant as it was one of the first studies to use exome array genotyping, an alternative to genetic sequencing. (wikipedia.org)
  • Brain lobar volumes are heritable but genetic studies are limited. (eur.nl)
  • Established guidelines for causal inference in epidemiological studies may be inappropriate for genetic associations. (cdc.gov)
  • Studies using human subjects and animal models with congenital craniofacial malformations have explored the genetic factors affecting face formation. (biomedcentral.com)
  • These studies began in the 70's and studied the impact of perinatal problems, genetic variants, sexual abuse and other adverse exposures on psychological problems in childhood and later in adulthood. (wikipedia.org)
  • citation needed] In contrast to genetic studies, the investigation of environmental exposures of psychiatric problems face the question of reverse causality. (wikipedia.org)
  • However, human genetic studies of missing heritability have paid little attention to the potential impact of genetic interactions. (pnas.org)
  • These studies identify tumor microenvironment and host inflammatory response as defining features in DLBCL and suggest rational treatment targets in specific DLBCL subsets. (bloodjournal.org)
  • Furthermore, recent studies suggest that subsets of DLBCL may differ with respect to normal cell of origin and genetic bases for transformation as well as clinical outcome. (bloodjournal.org)
  • However, studies that have searched for specific genetic contributors have been limited due to small sample sizes, candidate gene approaches, and weak phenotyping. (pnas.org)
  • These studies should dissect components of the neurobiology of autism, especially in patients with both FXS and autism, and identify novel targets for new drugs to treat both disorders. (nih.gov)