Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.Mice, Inbred C57BLCells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Immunophenotyping: Process of classifying cells of the immune system based on structural and functional differences. The process is commonly used to analyze and sort T-lymphocytes into subsets based on CD antigens by the technique of flow cytometry.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Gene Expression Regulation, Developmental: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Homozygote: An individual in which both alleles at a given locus are identical.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Bacterial Proteins: Proteins found in any species of bacterium.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Cell Division: The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Cell Proliferation: All of the processes involved in increasing CELL NUMBER including CELL DIVISION.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Arabidopsis: A plant genus of the family BRASSICACEAE that contains ARABIDOPSIS PROTEINS and MADS DOMAIN PROTEINS. The species A. thaliana is used for experiments in classical plant genetics as well as molecular genetic studies in plant physiology, biochemistry, and development.Flow Cytometry: Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.Genetic Variation: Genotypic differences observed among individuals in a population.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Suppression, Genetic: Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Arabidopsis Proteins: Proteins that originate from plants species belonging to the genus ARABIDOPSIS. The most intensely studied species of Arabidopsis, Arabidopsis thaliana, is commonly used in laboratory experiments.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Cell Transformation, Neoplastic: Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Homeodomain Proteins: Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Cell Line, Tumor: A cell line derived from cultured tumor cells.Transfection: The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Genes, Bacterial: The functional hereditary units of BACTERIA.Cell Movement: The movement of cells from one location to another. Distinguish from CYTOKINESIS which is the process of dividing the CYTOPLASM of a cell.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Syndrome: A characteristic symptom complex.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Gene Expression Regulation, Plant: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in plants.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Abnormalities, MultipleSaccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.Animals, Genetically Modified: ANIMALS whose GENOME has been altered by GENETIC ENGINEERING, or their offspring.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Genes, Fungal: The functional hereditary units of FUNGI.Gene Expression Regulation, Bacterial: Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Virulence: 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.Fungal Proteins: Proteins found in any species of fungus.RNA Interference: A gene silencing phenomenon whereby specific dsRNAs (RNA, DOUBLE-STRANDED) trigger the degradation of homologous mRNA (RNA, MESSENGER). The specific dsRNAs are processed into SMALL INTERFERING RNA (siRNA) which serves as a guide for cleavage of the homologous mRNA in the RNA-INDUCED SILENCING COMPLEX. DNA METHYLATION may also be triggered during this process.Repressor Proteins: Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Mice, Inbred BALB CSequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Apoptosis: One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Antigens, CD: Differentiation antigens residing on mammalian leukocytes. CD stands for cluster of differentiation, which refers to groups of monoclonal antibodies that show similar reactivity with certain subpopulations of antigens of a particular lineage or differentiation stage. The subpopulations of antigens are also known by the same CD designation.Zebrafish: An exotic species of the family CYPRINIDAE, originally from Asia, that has been introduced in North America. They are used in embryological studies and to study the effects of certain chemicals on development.Caenorhabditis elegans: A species of nematode that is widely used in biological, biochemical, and genetic studies.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Plants, Genetically Modified: PLANTS, or their progeny, whose GENOME has been altered by GENETIC ENGINEERING.Tumor Cells, Cultured: Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Temperature: The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.In Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.Morphogenesis: The development of anatomical structures to create the form of a single- or multi-cell organism. Morphogenesis provides form changes of a part, parts, or the whole organism.Stem Cells: Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.T-Lymphocytes: Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.Gene Targeting: The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Epithelial Cells: Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Gene Expression Regulation, Neoplastic: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Genes, Plant: The functional hereditary units of PLANTS.Proteins: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.Trans-Activators: Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Mice, Inbred Strains: Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.Genes, Suppressor: Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.Gene Knockout Techniques: 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, Insect: The functional hereditary units of INSECTS.Recombinant Fusion Proteins: Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Transgenes: Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.Lymphocyte Activation: Morphologic alteration of small B LYMPHOCYTES or T LYMPHOCYTES in culture into large blast-like cells able to synthesize DNA and RNA and to divide mitotically. It is induced by INTERLEUKINS; MITOGENS such as PHYTOHEMAGGLUTININS, and by specific ANTIGENS. It may also occur in vivo as in GRAFT REJECTION.Down-Regulation: A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.Embryo, Nonmammalian: The developmental entity of a fertilized egg (ZYGOTE) in animal species other than MAMMALS. For chickens, use CHICK EMBRYO.Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.Up-Regulation: A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.Cell Survival: The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.Clone Cells: A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed)Pigmentation: Coloration or discoloration of a part by a pigment.Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Cytokines: Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Cell Adhesion: Adherence of cells to surfaces or to other cells.DNA, Complementary: Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Caenorhabditis elegans Proteins: Proteins from the nematode species CAENORHABDITIS ELEGANS. The proteins from this species are the subject of scientific interest in the area of multicellular organism MORPHOGENESIS.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.CD4-Positive T-Lymphocytes: A critical subpopulation of T-lymphocytes involved in the induction of most immunological functions. The HIV virus has selective tropism for the T4 cell which expresses the CD4 phenotypic marker, a receptor for HIV. In fact, the key element in the profound immunosuppression seen in HIV infection is the depletion of this subset of T-lymphocytes.Macrophages: The relatively long-lived phagocytic cell of mammalian tissues that are derived from blood MONOCYTES. Main types are PERITONEAL MACROPHAGES; ALVEOLAR MACROPHAGES; HISTIOCYTES; KUPFFER CELLS of the liver; and OSTEOCLASTS. They may further differentiate within chronic inflammatory lesions to EPITHELIOID CELLS or may fuse to form FOREIGN BODY GIANT CELLS or LANGHANS GIANT CELLS. (from The Dictionary of Cell Biology, Lackie and Dow, 3rd ed.)Fluorescent Antibody Technique: Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.Gene Knockdown Techniques: The artificial induction of GENE SILENCING by the use of RNA INTERFERENCE to reduce the expression of a specific gene. It includes the use of DOUBLE-STRANDED RNA, such as SMALL INTERFERING RNA and RNA containing HAIRPIN LOOP SEQUENCE, and ANTI-SENSE OLIGONUCLEOTIDES.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Zebrafish Proteins: Proteins obtained from the ZEBRAFISH. Many of the proteins in this species have been the subject of studies involving basic embryological development (EMBRYOLOGY).Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.Plant Proteins: Proteins found in plants (flowers, herbs, shrubs, trees, etc.). The concept does not include proteins found in vegetables for which VEGETABLE PROTEINS is available.Mutagenesis, Site-Directed: Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.Neoplasm Proteins: Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.Embryo, Mammalian: The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.Cell Lineage: The developmental history of specific differentiated cell types as traced back to the original STEM CELLS in the embryo.Cell Line, Transformed: Eukaryotic cell line obtained in a quiescent or stationary phase which undergoes conversion to a state of unregulated growth in culture, resembling an in vitro tumor. It occurs spontaneously or through interaction with viruses, oncogenes, radiation, or drugs/chemicals.Plant Leaves: Expanded structures, usually green, of vascular plants, characteristically consisting of a bladelike expansion attached to a stem, and functioning as the principal organ of photosynthesis and transpiration. (American Heritage Dictionary, 2d ed)Chromosome Deletion: Actual loss of portion of a chromosome.Green Fluorescent Proteins: Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.T-Lymphocyte Subsets: A classification of T-lymphocytes, especially into helper/inducer, suppressor/effector, and cytotoxic subsets, based on structurally or functionally different populations of cells.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Gene Expression Regulation, Fungal: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.Actins: Filamentous proteins that are the main constituent of the thin filaments of muscle fibers. The filaments (known also as filamentous or F-actin) can be dissociated into their globular subunits; each subunit is composed of a single polypeptide 375 amino acids long. This is known as globular or G-actin. In conjunction with MYOSINS, actin is responsible for the contraction and relaxation of muscle.Neoplasm Invasiveness: Ability of neoplasms to infiltrate and actively destroy surrounding tissue.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)Gene Silencing: Interruption or suppression of the expression of a gene at transcriptional or translational levels.Eye ProteinsRNA, Small Interfering: Small double-stranded, non-protein coding RNAs (21-31 nucleotides) involved in GENE SILENCING functions, especially RNA INTERFERENCE (RNAi). Endogenously, siRNAs are generated from dsRNAs (RNA, DOUBLE-STRANDED) by the same ribonuclease, Dicer, that generates miRNAs (MICRORNAS). The perfect match of the siRNAs' antisense strand to their target RNAs mediates RNAi by siRNA-guided RNA cleavage. siRNAs fall into different classes including trans-acting siRNA (tasiRNA), repeat-associated RNA (rasiRNA), small-scan RNA (scnRNA), and Piwi protein-interacting RNA (piRNA) and have different specific gene silencing functions.Hair Color: Color of hair or fur.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Larva: Wormlike or grublike stage, following the egg in the life cycle of insects, worms, and other metamorphosing animals.Cell Aging: The decrease in the cell's ability to proliferate with the passing of time. Each cell is programmed for a certain number of cell divisions and at the end of that time proliferation halts. The cell enters a quiescent state after which it experiences CELL DEATH via the process of APOPTOSIS.Body Patterning: The processes occurring in early development that direct morphogenesis. They specify the body plan ensuring that cells will proceed to differentiate, grow, and diversify in size and shape at the correct relative positions. Included are axial patterning, segmentation, compartment specification, limb position, organ boundary patterning, blood vessel patterning, etc.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Aging: The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.Transformation, Genetic: 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.Drug Resistance: Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration.Phosphorylation: The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.Eye: The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Cell Culture Techniques: Methods for maintaining or growing CELLS in vitro.Cadherins: Calcium-dependent cell adhesion proteins. They are important in the formation of ADHERENS JUNCTIONS between cells. Cadherins are classified by their distinct immunological and tissue specificities, either by letters (E- for epithelial, N- for neural, and P- for placental cadherins) or by numbers (cadherin-12 or N-cadherin 2 for brain-cadherin). Cadherins promote cell adhesion via a homophilic mechanism as in the construction of tissues and of the whole animal body.Antigens, Surface: Antigens on surfaces of cells, including infectious or foreign cells or viruses. They are usually protein-containing groups on cell membranes or walls and may be isolated.Protein Isoforms: Different forms of a protein that may be produced from different GENES, or from the same gene by ALTERNATIVE SPLICING.Cell SeparationFlowers: The reproductive organs of plants.

Mapping of the homothallic genes, HM alpha and HMa, in Saccharomyces yeasts. (1/63708)

Two of the three homothallic genes, HM alpha and HMa, showed direct linkage to the mating-type locus at approximately 73 and 98 strans (57 and 65 centimorgans [cM], respectively, whereas, the other, HO, showed no linkage to 25 standard markers distributed over 17 chromosomes including the mating-type locus. To determine whether the HM alpha and HMa loci located on the left or right side of the mating-type locus, equations for three factor analysis of three linked genes were derived. Tetrad data were collected and were compared with expected values by chi 2 statistics. Calculations indicated that the HM alpha gene is probably located on the right arm at 95 strans (65 cM) from the centromere and the HMa locus at approximately 90 strans (64 cM) on the left arm of chromosome III.  (+info)

Sulfhydryl compounds in melanocytes of yellow (Ay/a), nonagouti (a/a), and agouti (A/A) mice. (2/63708)

CLEFFMANN (1953, 1963a,b) has reported that yellow but not black melanocytes of agouti (A/A) rabbits contained reducing sulfhydryl compounds. We have attempted to repeat CLEFFMANN's observations in mouse melanocytes of the lethal yellow (Ay/a), nonagouti (a/a) and agouti (A/A) genotypes. Our results contradict those of CLEFFMANN and reveal that yellow and black melanocytes, regardless of genotype, possess equivalent amounts of histochemically detectable sulfhydryl compounds. These results do not support the hypothesis that agouti-locus genes act by controlling the sulfhydryl metabolism of pigment cells.  (+info)

Regulation of body length and male tail ray pattern formation of Caenorhabditis elegans by a member of TGF-beta family. (3/63708)

We have identified a new member of the TGF-beta superfamily, CET-1, from Caenorhabditis elegans, which is expressed in the ventral nerve cord and other neurons. cet-1 null mutants have shortened bodies and male tail abnormal phenotype resembling sma mutants, suggesting cet-1, sma-2, sma-3 and sma-4 share a common pathway. Overexpression experiments demonstrated that cet-1 function requires wild-type sma genes. Interestingly, CET-1 appears to affect body length in a dose-dependent manner. Heterozygotes for cet-1 displayed body lengths ranging between null mutant and wild type, and overexpression of CET-1 in wild-type worms elongated body length close to lon mutants. In male sensory ray patterning, lack of cet-1 function results in ray fusions. Epistasis analysis revealed that mab-21 lies downstream and is negatively regulated by the cet-1/sma pathway in the male tail. Our results show that cet-1 controls diverse biological processes during C. elegans development probably through different target genes.  (+info)

Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch. (4/63708)

The mouse mutants of the hemimelia-luxate group (lx, lu, lst, Dh, Xt, and the more recently identified Hx, Xpl and Rim4; [1] [2] [3] [4] [5]) have in common preaxial polydactyly and longbone abnormalities. Associated with the duplication of digits are changes in the regulation of development of the anterior limb bud resulting in ectopic expression of signalling components such as Sonic hedgehog (Shh) and fibroblast growth factor-4 (Fgf4), but little is known about the molecular causes of this misregulation. We generated, by a transgene insertion event, a new member of this group of mutants, Sasquatch (Ssq), which disrupted aspects of both anteroposterior (AP) and dorsoventral (DV) patterning. The mutant displayed preaxial polydactyly in the hindlimbs of heterozygous embryos, and in both hindlimbs and forelimbs of homozygotes. The Shh, Fgf4, Fgf8, Hoxd12 and Hoxd13 genes were all ectopically expressed in the anterior region of affected limb buds. The insertion site was found to lie close to the Shh locus. Furthermore, expression from the transgene reporter has come under the control of a regulatory element that directs a pattern mirroring the endogenous expression pattern of Shh in limbs. In abnormal limbs, both Shh and the reporter were ectopically induced in the anterior region, whereas in normal limbs the reporter and Shh were restricted to the zone of polarising activity (ZPA). These data strongly suggest that Ssq is caused by direct interference with the cis regulation of the Shh gene.  (+info)

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. (5/63708)

BACKGROUND: Since 1968 it has been known that bone marrow transplantation can ameliorate severe combined immunodeficiency, but data on the long-term efficacy of this treatment are limited. We prospectively studied immunologic function in 89 consecutive infants with severe combined immunodeficiency who received hematopoietic stem-cell transplants at Duke University Medical Center between May 1982 and September 1998. METHODS: Serum immunoglobulin levels and lymphocyte phenotypes and function were assessed and genetic analyses performed according to standard methods. Bone marrow was depleted of T cells by agglutination with soybean lectin and by sheep-erythrocyte rosetting before transplantation. RESULTS: Seventy-seven of the infants received T-cell-depleted, HLA-haploidentical parental marrow, and 12 received HLA-identical marrow from a related donor; 3 of the recipients of haploidentical marrow also received placental-blood transplants from unrelated donors. Except for two patients who received placental blood, none of the recipients received chemotherapy before transplantation or prophylaxis against graft-versus-host disease. Of the 89 infants, 72 (81 percent) were still alive 3 months to 16.5 years after transplantation, including all of the 12 who received HLA-identical marrow, 60 of the 77 (78 percent) who were given haploidentical marrow, and 2 of the 3 (67 percent) who received both haploidentical marrow and placental blood. T-cell function became normal within two weeks after transplantation in the patients who received unfractionated HLA-identical marrow but usually not until three to four months after transplantation in those who received T-cell-depleted marrow. At the time of the most recent evaluation, all but 4 of the 72 survivors had normal T-cell function, and all the T cells in their blood were of donor origin. B-cell function remained abnormal in many of the recipients of haploidentical marrow. In 26 children (5 recipients of HLA-identical marrow and 21 recipients of haploidentical marrow) between 2 percent and 100 percent of B cells were of donor origin. Forty-five of the 72 children were receiving intravenous immune globulin. CONCLUSIONS: Transplantation of marrow from a related donor is a life-saving and life-sustaining treatment for patients with any type of severe combined immunodeficiency, even when there is no HLA-identical donor.  (+info)

Phenotypic analysis of human glioma cells expressing the MMAC1 tumor suppressor phosphatase. (6/63708)

MMAC1, also known as PTEN or TEP-1, was recently identified as a gene commonly mutated in a variety of human neoplasias. Sequence analysis revealed that MMAC1 harbored sequences similar to those found in several protein phosphatases. Subsequent studies demonstrated that MMAC1 possessed in vitro enzymatic activity similar to that exhibited by dual specificity phosphatases. To characterize the potential cellular functions of MMAC1, we expressed wild-type and several mutant variants of MMAC1 in the human glioma cell line, U373, that lacks endogenous expression. While expression of wild-type MMAC1 in these cells significantly reduced their growth rate and saturation density, expression of enzymatically inactive MMAC1 significantly enhanced growth in soft agar. Our observations indicate that while wild-type MMAC1 exhibits activities compatible with its proposed role as a tumor suppressor, cellular expression of MMAC1 containing mutations in the catalytic domain may yield protein products that enhance transformation characteristics.  (+info)

The role of RBF in the introduction of G1 regulation during Drosophila embryogenesis. (7/63708)

The first appearance of G1 during Drosophila embryogenesis, at cell cycle 17, is accompanied by the down-regulation of E2F-dependent transcription. Mutant alleles of rbf were generated and analyzed to determine the role of RBF in this process. Embryos lacking both maternal and zygotic RBF products show constitutive expression of PCNA and RNR2, two E2F-regulated genes, indicating that RBF is required for their transcriptional repression. Despite the ubiquitous expression of E2F target genes, most epidermal cells enter G1 normally. Rather than pausing in G1 until the appropriate time for cell cycle progression, many of these cells enter an ectopic S-phase. These results indicate that the repression of E2F target genes by RBF is necessary for the maintenance but not the initiation of a G1 phase. The phenotype of RBF-deficient embryos suggests that rbf has a function that is complementary to the roles of dacapo and fizzy-related in the introduction of G1 during Drosophila embryogenesis.  (+info)

JunB is essential for mammalian placentation. (8/63708)

Lack of JunB, an immediate early gene product and member of the AP-1 transcription factor family causes embryonic lethality between E8.5 and E10.0. Although mutant embryos are severely retarded in growth and development, cellular proliferation is apparently not impaired. Retardation and embryonic death are caused by the inability of JunB-deficient embryos to establish proper vascular interactions with the maternal circulation due to multiple defects in extra-embryonic tissues. The onset of the phenotypic defects correlates well with high expression of junB in wild-type extra-embryonic tissues. In trophoblasts, the lack of JunB causes a deregulation of proliferin, matrix metalloproteinase-9 (MMP-9) and urokinase plasminogen activator (uPA) gene expression, resulting in a defective neovascularization of the decidua. As a result of downregulation of the VEGF-receptor 1 (flt-1), blood vessels in the yolk sac mesoderm appeared dilated. Mutant embryos which escape these initial defects finally die from a non-vascularized placental labyrinth. Injection of junB-/- embryonic stem (ES) cells into tetraploid wild-type blastocysts resulted in a partial rescue, in which the ES cell-derived fetuses were no longer growth retarded and displayed a normal placental labyrinth. Therefore, JunB appears to be involved in multiple signaling pathways regulating genes involved in the establishment of a proper feto-maternal circulatory system.  (+info)

*Directed differentiation

Some applications are impaired by the immature phenotype of the pluripotent stem cells (PSCs)-derived cell type, which limits ...

*Phenotype

The term extended phenotype refers to the idea that a phenotype is not restricted to biological processes but includes all ... One can begin to understand the concept of extended phenotype through the central theorem of the extended phenotype: "An ... Behavioral phenotypes include cognitive, personality, and behavioral patterns. Some behavioral phenotypes may characterize ... Mouse Phenome Database Human Phenotype Ontology Europhenome: Access to raw and annotated mouse phenotype data "Wilhelm ...

*Phenotype (album)

Phenotype is the fifth and final studio album by Dutch heavy metal band Textures, released on February 5, 2016. The album was ... TEXTURES Phenotype". Metal Injection. Retrieved 25 March 2016. "Textures To Breakup Following Farewell Tour". theprp.com. May 7 ... "Phenotype by TEXTURES". Nuclear Blast. Retrieved 25 March 2016. ...

*Neophyte Phenotype

... is a 2001 album by Canadian-American alternative hip hop artist Noah23. It features dense wordplay over drum ... 2001 in hip hop music Cowie, Del F. (May 2001). "Noah23 - Neophyte Phenotype • Hip-Hop Reviews". Exclaim!. Retrieved 13 ... Dionne, Duncan A. "Noah23: Neophyte Phenotype LP". UKHH.com. Retrieved 13 November 2011. ...

*Thrifty phenotype

Therefore, the thrifty phenotype can be described as a manipulation of offspring phenotype for the benefit of maternal fitness ... This paradox generates doubts about whether the thrifty phenotype is adaptive for human offspring. Thus, the thrifty phenotype ... The thrifty phenotype hypothesis says that reduced fetal growth is strongly associated with a number of chronic conditions ... The thrifty phenotype is a component of the Fetal Origins Hypothesis. These chronic conditions include coronary heart disease, ...

*Phenotype microarray

The phenotype microarray approach is a technology for high-throughput phenotyping of cells. A phenotype microarray system ... phenotype microarrays (PMs) make it possible to quantitatively measure thousands of cellular phenotypes all at once. The ... Another free and open source software developed to analyze Phenotype Microarray data is "DuctApe", a Unix command-line tool ... Other software tools are PheMaDB, which provides a solution for storage, retrieval, and analysis of high throughput phenotype ...

*Phenotype mixing

... is a form of interaction between two virus particles, each of which holds its own unique genetic material. The ...

*Phenotype (disambiguation)

Phenotype can refer to: Phenotype (genetics) Phenotype (igneous petrology), an aphanitic igneous rock which is identified and ... classified according to the mineralogy of its phenocrysts Phenotype (clinical medicine). ...

*The Extended Phenotype

... is a 1982 book by Richard Dawkins, in which the author introduced a biological concept of the same name ... He points to the arbitrariness of restricting the idea of the phenotype to apply only to the phenotypic expression of an ... The main idea is that phenotype should not be limited to biological processes such as protein biosynthesis or tissue growth, ... Dawkins considers The Extended Phenotype to be a sequel to The Selfish Gene (1976) aimed at professional biologists, and as his ...

*Human Phenotype Ontology

The Human Phenotype Ontology is a formal ontology of human phenotypes. Developed in collaboration with members of the Open ... The ontology contains over 50,000 annotations between phenotypes and hereditary disease. The Human Phenotype Ontology (HPO) was ... January 2014). "The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data". Nucleic ... Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S (November 2008). "The Human Phenotype Ontology: a tool for ...

*Phenotype (clinical medicine)

For other uses see Phenotype (disambiguation) In a nosological sense, the term phenotype can be used in clinical medicine for ... A clinical phenotype would be the presentation of a disease in a given individual. Some organizations have their own ... The word phenotype comes from Greek phainein, meaning 'to show', and typos, meaning 'type'. Normally it refers to the ... In this context, a phenotype would be any observable characteristic or trait of a disease, such as morphology, development, ...

*Replication error phenotype

The positive replication error phenotype (RER+) defines a subgroup of tumors that have been documented well in Hereditary ... nonpolyposis colorectal cancer (HNPCC). More recently, this phenotype also has been described in breast carcinoma and is a ...

*Phenotype (igneous petrology)

As a result of this potential for error, phenotypes are identified using the prefix pheno-. Winter, J.D. 2010. Igneous and ... In igneous petrology, a phenotype is an aphanitic igneous rock which is identified and classified according to the mineralogy ...

*Genotype-phenotype distinction

The genotype-phenotype distinction is drawn in genetics. "Genotype" is an organism's full hereditary information. "Phenotype" ... operating in phenotype space. The missing part is the mapping between the genotype and phenotype space. This leads to a " ... The mapping of a set of genotypes to a set of phenotypes is sometimes referred to as the genotype-phenotype map. An organism's ... in which case it is not possible to exactly predict the genotype from knowledge of the phenotype (i.e. the genotype-phenotype ...

*Large-cell lung carcinoma with rhabdoid phenotype

As the rhabdoid phenotype may exclusively be associated with certain missense mutations in the CK-8 gene (or, possibly, the ... Cavazza A, Colby TV, Tsokos M, Rush W, Travis WD (February 1996). "Lung tumors with a rhabdoid phenotype". Am. J. Clin. Pathol ... Large cell lung carcinoma with rhabdoid phenotype (LCLC-RP) is a rare histological form of lung cancer, currently classified as ... Some evidence suggests that cells with the rhabdoid phenotype result from mutations occurring in some of the cells descending ...

*Glossary of biology

This results in a third phenotype in which the expressed physical trait is a combination of the phenotypes of both alleles. ... phenotype . pheromone . phloem The conducting tissue in plants responsible for the conduction of food particles. physiology the ... artificial selection Professionals study the genotype and phenotype of parent organisms in the hope of producing a hybrid that ...

*List of popular science books on evolution

Richard Dawkins (1982). The Extended Phenotype. Richard Dawkins (1986). The Blind Watchmaker. Richard Dawkins (1995). River out ...

*Modern synthesis (20th century)

The Extended Phenotype. Oxford University Press. ISBN 978-0-19-288051-2. Fisher, Helen (16 October 1994). "'Wilson,' They Said ...

*Genetic architecture

This can include, among other details, how many genes are involved in a specific phenotype and how gene interactions, such as ... Classical quantitative genetics models, such as that developed by R.A. Fisher, are based on analyses of phenotype in terms of ... They also acknowledged the presence of large but rare mutations that have a large effect on phenotype. This study showcases the ... Robustness: the ability of a phenotype to remain constant in spite of genetic mutation. A study published in 2006 used ...

*Epidemiology of representations

Dawkins, R. (1982). The Extended Phenotype. Oxford: Oxford University Press. ...

*Richard Dawkins bibliography

ISBN 0-415-33798-4. Dawkins, R. (June 2004). "Extended phenotype - But not too extended. A reply to Laland, Turner and Jablonka ... ISBN 0-19-286092-5. Dawkins, R. (1982). The Extended Phenotype. Oxford: Oxford University Press. ISBN 0-19-288051-9. Dawkins, R ... Dawkins R (1978). "Replicator selection and the extended phenotype". Zeitschrift für Tierpsychologie. 47 (1): 61-76. doi: ...

*Developmental systems theory

Dawkins, R. (1982). The Extended Phenotype. Oxford: Oxford University Press. Depew, D.J. and Weber, B.H. (1995). Darwinism ... any direct determination of phenotype by genotype, and the very notion that any aspect of biological (or psychological, or any ...

*John Brownstein

Jain, Sachin H; Powers, Brian W; Hawkins, Jared B; Brownstein, John S (2015). "The digital phenotype". Nature Biotechnology. 33 ... "Digital Phenotype" in a seminal paper in Nature Biotechnology. Brownstein is co-founder of Epidemico a commercial spinoff of ...

*Glycerol kinase deficiency

The presence of certain mutations in genes has no relation with the phenotype i.e. any resulting physical traits or abnormality ... There is no genotype-phenotype correlation in isolated GKD and it can be either symptomatic or asymptomatic. Symptomatic means ... National Library of Medicine (17 December 2012). "Genotype-Phenotype Correlation". Genetics Home Reference. Retrieved 21 ... In this deficiency the genotype is not associated with the phenotype. ...

*Textures (band)

"Phenotype by TEXTURES". Nuclear Blast. Retrieved 25 March 2016. Textures official website Textures at Last.fm. ... In February 2016, Textures released their fifth album, Phenotype. It was recorded at the same time as another album, Genotype, ... Polars (2003) Drawing Circles (2006) Silhouettes (2008) Dualism (2011) Phenotype (2016) "Ostensibly Impregnable" (2004) " ...
Advances in automated plant handling and image acquisition now make it possible to use digital imaging for the high-throughput phenotyping of plants. Various traits can be extracted from individual images. However, the potential of this technology lies in the acquisition of time series. Since whole shoot imaging is nondestructive, plants can now be monitored throughout their lifecycle, and dynamic traits such as plant growth and development can be captured and quantified. The technique is applicable to a wide range of plants and research areas and makes high-throughput screens possible, reducing the time and labor needed for the phenotypic characterization of plants. ...
We report on the development of a vertical and transparent microfluidic chip for high-throughput phenotyping of Arabidopsis thaliana plants. Multiple Arabidopsis seeds can be germinated and grown hydroponically over more than two weeks in the chip, thus enabling large-scale and quantitative monitoring of pla
High-throughput phenotyping has opened whole new perspectives for crop improvement and better understanding of quantitative traits in plants. Generation of loss-of-function and gain-of-function plant
Autor: Müller, Oliver et al.; Genre: Zeitschriftenartikel; Im Druck veröffentlicht: 2004; Keywords: bioorganic chemistry • combinatorial chemistry • library screening • medicinal chemistry • signal transduction; Titel: Identification of potent Ras signaling inhibitors by pathway-selective phenotype-based screening
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
Rice, Oryza sativa L., is one of the most important crops in the world. With the rising world population, feeding people in a more sustainable and environment-friendly way becomes increasingly important. Therefore, rice research community needs to share resources to better understand functions of rice genes that are the foundation for future agricultural biotechnology development, and one way to achieve this goal is via the extensive study of insertional mutants.|br| We have constructed a large rice insertional mutant population in a japonica rice variety, Tainung 67. The collection contains about 93,000 mutant lines, among them 85% with phenomics data and 65% with flanking sequence data. We screened the phenotypes of 12 individual plants for each line grown under field conditions according to 68 subcategories and 3 quantitative traits. Both phenotypes and integration sites are searchable in the database at Taiwan Rice Insertional Mutants Database (http://trim.sinica.edu.tw).|br| Detailed analyses of
Rice, Oryza sativa L., is one of the most important crops in the world. With the rising world population, feeding people in a more sustainable and environment-friendly way becomes increasingly important. Therefore, rice research community needs to share resources to better understand functions of rice genes that are the foundation for future agricultural biotechnology development, and one way to achieve this goal is via the extensive study of insertional mutants.|br| We have constructed a large rice insertional mutant population in a japonica rice variety, Tainung 67. The collection contains about 93,000 mutant lines, among them 85% with phenomics data and 65% with flanking sequence data. We screened the phenotypes of 12 individual plants for each line grown under field conditions according to 68 subcategories and 3 quantitative traits. Both phenotypes and integration sites are searchable in the database at Taiwan Rice Insertional Mutants Database (http://trim.sinica.edu.tw).|br| Detailed analyses of
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
Tables displaying phenotype data. Phenotype terms and chemical names that occur within any tables of phenotype data (e.g., on the Phenotype Details page showing mutant phenotypes for a single gene, as well as in tables of phenotype search results) provide access to additional related phenotypes and the genes associated with them. Clicking on a hyperlinked phenotype term will take you to a list of all annotations to that phenotype, with the associated genes. Clicking on the name of a chemical will take you to a list of all phenotypes and genes associated with that chemical. ...
Everyone who does computational biology and has wrote at least one Python script probably knows about the BioPython library. I personally remember going "Oh!" some years ago when I gave up writing my own (horrible, terrible, clunky) GenBank file parser and discovered it. Since then it has been a central part of almost all small scripts I needed to write. Recent versions have become even more useful, with the inclusion of a very cool KEGG API wrapper, which has the side-effect of putting together two well-designed bioinformatics software together!. It is then with great pleasure that Im announcing the addition of the Bio.phenotype module to BioPython, starting from version 1.67. The module allows to parse and write the outputs of Phenotype Microarray experiments, as well as to run some simple analysis on the raw data. Even though I have published another software in the past to run the same analysis (plus some more), I thought that a simpler library would prove useful for many, and that having ...
How to interpret the nature of biological processes, which when perturbed cause certain phenotype changes, such as human disease, is a major challenge. The completion of sequencing the genomics of many model organisms has made "reverse genetic approaches" efficient and comprehensive ways to identify the causal genes for a given phenotype under investigation. For instance, genome-wide knockout strains are now available for S. cerevisiae, and diverse high throughput RNAi knockdown experiments have been performed for multiple higher organisms. Although very useful, these high throughput screening approaches are associated with two main problems: 1) the underlying biology, i.e., how genetic perturbation leads to the change of phenotypes in the complex of biological systems is unclear; 2) the screening results could be very noisy with high false positive and false negative rates.; As genomic data from different sources accumulates, integrating screening results with other genomic information, ...
How to interpret the nature of biological processes, which when perturbed cause certain phenotype changes, such as human disease, is a major challenge. The completion of sequencing the genomics of many model organisms has made "reverse genetic approaches" efficient and comprehensive ways to identify the causal genes for a given phenotype under investigation. For instance, genome-wide knockout strains are now available for S. cerevisiae, and diverse high throughput RNAi knockdown experiments have been performed for multiple higher organisms. Although very useful, these high throughput screening approaches are associated with two main problems: 1) the underlying biology, i.e., how genetic perturbation leads to the change of phenotypes in the complex of biological systems is unclear; 2) the screening results could be very noisy with high false positive and false negative rates.; As genomic data from different sources accumulates, integrating screening results with other genomic information, ...
The R package opm includes tools for analysing OmniLog(R) Phenotype Microarray (PM) data as produced by the device distributed by BiOLOG Inc., including plotting, aggregating (estimating curve parameters) and comparing PM data, integrating metadata, using the YAML format for the storage of data and metadata, and batch conversion of large numbers of files.
This OPMS object contains all measurements from the study by Vaas et al. (2012). Metadata have been added to fully describe the conducted OmniLog(R) phenotype microarray (PM) experiments. The plate type is Generation III, but the running mode was as for the usual PM plates. Four bacterial strains from two species were considered in the study. For the three publicly accessible ones, the web links to their DSMZ catalogue entries are given below.
Genetic screens for phenotypic similarity have made key contributions for associating genes with biological processes. Aggregating genes by similarity of their loss‐of‐function phenotype has provided insights into signalling pathways that have a conserved function from Drosophila to human (Nusslein‐Volhard and Wieschaus, 1980; Bier, 2005). Complex visual phenotypes, such as defects in pattern formation during development, greatly facilitated the classification of genes into pathways, and phenotypic similarities in many cases predicted molecular relationships. With RNA interference (RNAi), highly parallel phenotyping of loss‐of‐function effects in cultured cells has become feasible in many organisms whose genome have been sequenced (Boutros and Ahringer, 2008). One of the current challenges is the computational categorization of visual phenotypes and the prediction of gene function and associated biological processes. With large parts of the genome still being in unchartered territory, ...
Berger AH, Brooks AN, Wu X, Shrestha Y, Chouinard C, Piccioni F, Bagul M, Kamburov A, Imielinski M, Hogstrom L, Zhu C, Yang X, Pantel S, Sakai R, Watson J, Kaplan N, Campbell JD, Singh S, Root DE, Narayan R, Natoli T, Lahr DL, Tirosh I, Tamayo P, Getz G, Wong B, Doench J, Subramanian A, Golub TR, Meyerson M, Boehm ...
Chromatin immunoprecipitation followed by genome-wide chip hybridization (ChIP-chip), provides a tool for identifying transcription factor (TF) binding sites in the upstream regulatory regions of genes that are differentially expressed in alternative phenotypes or under different environmental conditions (Sun et al. 2010; Qin et al. 2011; Vernes et al. 2011; Yu et al. 2011; Cho et al. 2012; Kwon et al. 2012; Federowicz et al. 2014). By combining ChIP-chip hybridization analyses with mutational analyses and genome-wide transcription profiling, transcriptional networks regulating phenotypic transitions and the expression of alternative phenotypes can be developed (Sun et al. 2010; Qin et al. 2011; Vernes et al. 2011; Wang et al. 2011; Cho et al. 2012; Kwon et al. 2012; Federowicz et al. 2014). However, while ChIP-chip analyses provide the locations of binding sites, they do not assess functionality (Anderson et al. 1989; Li et al. 2008; Cooke et al. 2009; Ucar et al. 2009; Qin et al. 2011; Carey ...
Quite alot of questions - Ill try and tackle at least some!. ,evolution can be described as descent with modification; a change that builds up in a population over time. The changes involved are random mutations to the DNA that is not directed. I also imagine that that change is established in the population before the next change occurs, Not so. Populations harbour a lot of genetic variance arising ultimately from mutations. Mutations are arising all the time and ultimately proceed to fixation (the mutant allele becomes the only variant in the population) or loss (it disappears from the population). Selection plays a big role here but so does random chance. At any one time there will be lots of mutations at lots of genes at all sorts of different frequencies in a population. So its definitely not a sequential process at all!. ,Are small changes (that have no effect on phenotype) able to be part of this process?. Absolutely, much genetic evolution has no detectable effect on phenotype and ...
Overgrowth syndromes and the regulation of signaling complexes by proteoglycans. Haplotype and phenotype analysis of nine recurrent BRCA2 (ital) mutations in 111 families: results of an international study
Results This study analysed 1111 consecutive patients. Of these, 224 (20.2%) met the criteria for HCAP (39.3% hospitalised within 3 months, 37.5% nursing home residents, 10.7% recent outpatient appointments, 12.5% other). 96.4% of HCAP patients received standard CAP antibiotic therapy without coverage of Pseudomonas aeruginosa or MRSA. Demographic comparison of HCAP and CAP patients showed HCAP patients were significantly older (median age 76 vs 64, p,0.0001) and more likely to have co-morbidities, for example, congestive cardiac failure (30% vs 17%, p,0.0001), COPD (33.5% vs 20.8%, p,0.0001). HCAP patients had higher markers of severity and worse outcomes on univariate analysis. Mean admission CURB65 score was greater (2.32 vs 1.78, p,0.0001), median length of stay was longer (7 vs 5 days, p=0.01) and 30-day mortality was double that of CAP patients (16.5% vs 8.2%, p=0.0004). Kaplain-Meier analysis showed higher mortality for HCAP patients (Log rank test χ2 13.24 df=1, p=0.0003) as shown ...
RNAi is a convenient, widely used tool for screening for genes of interest. We have recently used this technology to screen roughly 750 candidate genes, in C. elegans, for potential roles in regulating muscle protein degradation in vivo. To maximize confidence and assess reproducibility, we have only used previously validated RNAi constructs and have included time courses and replicates. To maximize mechanistic understanding, we have examined multiple sub-cellular phenotypes in multiple compartments in muscle. We have also tested knockdowns of putative regulators of degradation in the context of mutations or drugs that were previously shown to inhibit protein degradation by diverse mechanisms. Here we discuss how assaying multiple phenotypes, multiplexing RNAi screens with use of mutations and drugs, and use of bioinformatics can provide more data on rates of potential false positives and negatives as well as more mechanistic insight than simple RNAi screening.
RNAi is a convenient, widely used tool for screening for genes of interest. We have recently used this technology to screen roughly 750 candidate genes, in C. elegans, for potential roles in regulating muscle protein degradation in vivo. To maximize confidence and assess reproducibility, we have only used previously validated RNAi constructs and have included time courses and replicates. To maximize mechanistic understanding, we have examined multiple sub-cellular phenotypes in multiple compartments in muscle. We have also tested knockdowns of putative regulators of degradation in the context of mutations or drugs that were previously shown to inhibit protein degradation by diverse mechanisms. Here we discuss how assaying multiple phenotypes, multiplexing RNAi screens with use of mutations and drugs, and use of bioinformatics can provide more data on rates of potential false positives and negatives as well as more mechanistic insight than simple RNAi screening.
BACKGROUND:. Hypertension, an exceedingly common trait in most developed countries, imparts an increased risk of cardiovascular, cerebrovascular and renal diseases. Nevertheless, the primary determinants of elevated blood pressure in most patients are unknown. Recognizing that a sizable portion of variation in blood pressure is genetically determined, one line of research has focused on identifying genetic variants that contribute to the pathogenesis of hypertension. However, standard genetic linkage analysis using hypertension as a phenotype may lack power due to the multifactorial nature of the disorder. A way to overcome this challenge is to subdivide hypertensive subjects into more homogenous subgroups.. DESIGN NARRATIVE:. The overall goal, which is to define the underlying genetics of hypertension in an Asian population by studying intermediate phenotypes, can be divided into three parts. First, the rural Chinese population will be characterized by the collection of intermediate phenotype ...
BACKGROUND:. Hypertension, an exceedingly common trait in most developed countries, imparts an increased risk of cardiovascular, cerebrovascular and renal diseases. Nevertheless, the primary determinants of elevated blood pressure in most patients are unknown. Recognizing that a sizable portion of variation in blood pressure is genetically determined, one line of research has focused on identifying genetic variants that contribute to the pathogenesis of hypertension. However, standard genetic linkage analysis using hypertension as a phenotype may lack power due to the multifactorial nature of the disorder. A way to overcome this challenge is to subdivide hypertensive subjects into more homogenous subgroups.. DESIGN NARRATIVE:. The overall goal, which is to define the underlying genetics of hypertension in an Asian population by studying intermediate phenotypes, can be divided into three parts. First, the rural Chinese population will be characterized by the collection of intermediate phenotype ...
Author Summary The molecular evolution of any organism is described by changes in the genotype resulting from genetic drift or selection to maintain or establish fitness under the given environmental conditions. Identification of phenotype-defining changes and their distinction from (near-) neutral (hitchhikers) ones is a fundamental challenge in genome research. The standard approach involves time- and cost-intensive mutation experiments, which are typically low throughput, due to their experimental nature. We have developed a computational method for the inference of phenotypic impact of genotypic changes that is applicable to any system, within or across species, where homologous genetic sequences and associated pairwise phenotype distances are available. We demonstrate the accuracy of our method by application to the human influenza A (H3N2) virus. This exemplary system is of particular interest, as recognizing changes in the antigenic phenotype and a viral strains capability to evade pre
The Hickey lab conducts discovery and applied research on Australias most important cereal crops - wheat and barley. The group is situated within the Queensland Alliance for Agriculture and Food Innovation at The University of Queensland, Brisbane, Australia. Our research is focused on key abiotic and biotic factors that limit grain production, as well as development of novel breeding tools and methodologies.. Our germplasm pipeline takes advantage of large nested-association mapping (NAM) populations, speed breeding technology, high-throughput phenotyping methods, and genotyping-by-sequencing (GBS) marker platforms. We develop novel pre-breeding germplasm with adapted genetic backgrounds, along with validated marker-trait associations. Our genetic studies improve understanding of gene effects, trait interactions, and interactions with specific environments. Such information and tools better equip breeders to assemble improved cultivars for farmers.. ...
The Hickey lab conducts discovery and applied research on Australias most important cereal crops - wheat and barley. The group is situated within the Queensland Alliance for Agriculture and Food Innovation at The University of Queensland, Brisbane, Australia. Our research is focussed on key abiotic and biotic factors that limit grain production, as well as development of novel breeding tools and methodologies. Our germplasm pipeline takes advantage of large nested-association mapping (NAM) populations, speed breeding technology, high-throughput phenotyping methods, and genotyping-by-sequencing (GBS) marker platforms. We develop novel pre-breeding germplasm with adapted genetic backgrounds, along with validated marker-trait associations. Our genetic studies improve understanding of gene effects, trait interactions, and interactions with specific environments. Such information and tools better equip breeders to assemble improved cultivars for farmers ...
Crop production has to increase faster to meet the global food demand in the near future. Phenotyping, i.e. the monitoring crop state variables and canopy functioning quantitatively, was recognized as the bottleneck to accelerate genetic progress to increase the yield. Field phenotyping is mandatory since it allows evaluating the genotypes under natural field conditions. The technological advances of sensors, communication and computing foster the development of high-throughput phenotyping systems during the last decade. However, only limited attentions was paid in the interpretation of phenotyping measurements, leading to an under-exploitation of the potentials of current systems. This thesis focuses on advancing the interpretation of field phenotyping measurements over wheat crops. It includes three complementary aspects that illustrate the potentials of advanced image processing, model inversion and data assimilation for the interpretation of phenotyping measurements to access new traits or improve
Representation and depiction of phenotype information at SOC and HLT level. (A) We used the hierarchical information of the MedDRA ontology to map all phenotypi
Identification of functional SNPs in genes and their effects on plant phenotypes - Functional SNPs;Genetic diversity;Phenotypic variation;Biotic and abiotic stresses;
Degree to which an organisms phenotype changes depending upon its current or past environment. Two organisms with the same genotype (e.g., identical twins) may have different phenotypes (e.g., one may be taller or heavier) if raised in different environments; those differences represent phenotypic plasticity. All organisms exhibit some degree of phenotypic plasticity (e.g., an animal that receives more food will generally be heavier than a genetically identical animal that receives less food), but sometimes phenotypic plasticity can be extreme (e.g., some fish become either male or female depending upon the temperatures they were exposed to as an egg). For more details, see our news story on the topic of phenotypic plasticity ...
Because of potential chemotherapeutic (sensitization of chemoresistant cells to death; refs. 3, 4) and chemopreventive (skin cancer prevention; ref. 35) implications, ATR pathway inhibitors have long been sought. Caffeine has been widely used as an ATM/ATR inhibitor, but caffeine requires millimolar levels to inhibit ATR and has several other targets (12, 36). Previous attempts to discover novel DNA damage response inhibitors have focused on finding better ATP-competitive inhibitors of kinases in this pathway. In the present study, we used a phenotype-based screening approach to identify ATR pathway inhibitors, potentially mechanistically distinct from typical ATP-competitive kinase inhibitors. Because the ATR activation mechanism is complex and requires multiple proteins to be recruited to damaged DNA, any of these components of the ATR pathway could potentially be a target of the identified small-molecule inhibitors. Specifically, unlike traditional biochemical screening, this phenotype-based ...
Genetic researchers often collect disease related quantitative traits in addition to disease status because they are interested in understanding the pathophysiology of disease processes. In genome-wide association (GWA) studies, these quantitative phenotypes may be relevant to disease development and serve as intermediate phenotypes or they could be behavioral or other risk factors that predict disease risk. Statistical tests combining both disease status and quantitative risk factors should be more powerful than case-control studies, as the former incorporates more information about the disease. In this paper, we proposed a modified inverse-variance weighted meta-analysis method to combine disease status and quantitative intermediate phenotype information. The simulation results showed that when an intermediate phenotype was available, the inverse-variance weighted method had more power than did a case-control study of complex diseases, especially in identifying susceptibility loci having minor ...
Objective: The possibility that a subset of persons who are obese may be metabolically healthy-referred to as the metabolically healthy obese (MHO) phenotype-has attracted attention recently. However, few studies have followed individuals with MHO or other obesity phenotypes over time to assess change in their metabolic profiles. The aim of the present study was to examine transitions over a 6-year period among different states defined simultaneously by body mass index (BMI) and the presence/absence of the metabolic syndrome (MetS).. Methods: We used repeated measurements available for a subcohort of participants enrolled in the Womens Health Initiative (N=3512) and followed for an average of 6 years to examine the frequency of different metabolic obesity phenotypes at baseline, the 6-year transition probabilities to other states and predictors of the risk of different transitions. Six phenotypes were defined by cross-tabulating BMI (18.5-,25.0, 25.0-,30.0 ...
Linear mixed models are a core statistical approach used in several key areas of genetics. In particular, they provide state-of-the-art solutions for genome-wide association studies, heritability estimation and phenotype prediction. However, one of the fundamental assumptions of these models. that the noise is Gaussian distributed. rarely holds in practice. We show that as a result, standard approaches yield sub-optimal performance, resulting in significant losses in power for GWAS, increased bias in heritability estimation, and reduced accuracy for phenotype predictions. One way to mitigate this problem is to apply an appropriate transformation (e.g., log transform) as a preprocessing step of the phenotypic data. However, choosing the right. transformation is challenging because of the need to manually define a set of transformations, and choose one over another, without a clear objective function that could be used to guide this decision. Thus, the problem has only been partially, and ...
Tissue inhibitors of metalloproteinases (TIMPs) are a family of closely related proteins that inhibit matrix metalloproteinases (MMPs). In the central nervous system (CNS), TIMPs 2, 3, and 4 are constitutively expressed at high levels, whereas TIMP1 can be induced by various stimuli. Here, we studied the effects of constitutive expression of TIMP1 in the CNS in transgenic mice. Transgene expression started prenatally and persisted throughout lifetime at high levels. Since MMP activity has been implicated in CNS development, in proper function of the adult CNS, and in inflammatory disorders, we investigated Timp1-induced CNS alterations. Despite sufficient MMP inhibition, high expressor transgenic mice had a normal phenotype. The absence of compensatory up-regulation of MMP genes in the CNS of Timp1 transgenic mice indicates that development, learning, and memory functions do not require the entire MMP arsenal. To elucidate the effects of strong Timp1 expression in CNS inflammation, we induced ...
Instead of relying on natural variation, a more direct forward genetic approach is to randomly mutagenize the genome and to systematically screen for mutants with phenotypes of interest. Such screens may uncover novel and unexpected genes without any bias or assumptions. Mutants sharing a similar phenotype may indeed point to an underlying network of genes that potentially affect the same biological process or genetic pathway. Furthermore, mutations showing differences in phenotypic severity will allow us to identify key players of a pathway. An important aspect of a phenotype-driven screen is that it allows genome-wide interrogation. The strength and broad application of these approaches have been demonstrated in many other model organisms, including yeast, worms, flies, fish and Arabidopsis. For example, the large-scale screen for embryonic lethals in Drosophila melanogaster by Eric Wieschaus and Christine Nüsslein-Volhard led to the discovery of genes that regulate embryonic development and ...
Our lab addresses a fundamental question in biology: how do novel phenotypic traits originate and diversify in nature? We use a wide range of approaches to address this question from different perspectives, and on different levels of biological organization. We use behavioral and ecological approaches in the lab and field on experimental and natural populations to understand when and how ecological processes can drive phenotypic evolution. We employ standard developmental techniques and growth manipulations to address physiological mechanisms of phenotype formation and evolution. Lastly, we rely on an increasing range of developmental-genetic and molecular tools (in-situ hybridization, immunohistochemistry, EST libraries, RNAinterference, microarrays, 2d-Protein-gel electrophoresis) to investigate the genetic and genomic regulation of phenotype expression and diversification. While each of these approaches has provided valuable insights, it has been most of all the integration across these ...
Through reverse genetics we will deduce the function of a gene starting with its sequence and working back to its phenotype. There are many genes in the genome whose phenotype when mutated is lethal; therefore, its impossible (or very difficult) to tie function to a particular gene in the traditional forward genetics manner of creating random mutations, looking for phenotype changes, and then finding the defective gene responsible for that function. In our reverse genetics study of some interesting C. elegans genes, two different strains of worms, wild-type and rrf-3 (RNAi enhanced), are fed bacteria expressing dsRNA specific to a particular worm gene. Ingesting dsRNA initiates cascade of events that leads to the destruction of the mRNA of the target gene. An altered phenotype in the progeny of RNAi-treated worms indicates what happens when the normal function of this gene is lost or significantly downregulated ...
Biological systems are robust, meaning that they can maintain relatively stable phenotypic outputs over a range of perturbing genetic and environmental inputs. Genetic buffering refers to the gene activities within a cell that confer phenotypic stability. Research in the lab is aimed at discovering how the arrangement of gene circuitry provides robustness through global analysis of genetic interactions. Genetic interaction is defined by the phenotypic effect of altering one gene being non-additive with the effect of a second perturbation. By this definition, when a gene interacts the phenotypic response to perturbation is dependent upon the activity of that gene, and therefore the gene has the capacity to modify phenotypic robustness to the perturbation, or to buffer the perturbation. To measure gene interaction globally, we perturb an array of ~5000 isogenic yeast deletion strains, and use cell proliferation as a phenotypic readout to quantify the interacting effects between the perturbation ...
Figure 4. Summary of phenotype caused by mutations of six3 gene. All targeted mutations showed a similar phenotype. (a-d) Phenotype variations seen in st.40 embryos targeted with the sgRNA for coding region site 1. By this stage, the obvious phenotype is significantly reduced eye size, but a brain defect (see below) is not yet obvious. The phenotype is six3-specific because it was partially rescued by coinjection of six3 mRNA (b, c). Severity of phenotype was scored as +++ (most severe, no eye or tiny piece of eye), ++ (severe, small and malformed eye), + (modest, small relatively normal looking eye), and - (no or little phenotype) (a�c). As observed with the tyr target injections, toxicity of injected RNAs varied greatly depending on batch of embryos. For example, in different experiments, the percentage of normal embryos recovered after the same RNA doses were injected (six3 target 1) varied from 43% to 87% (see Supporting Information Table S1). (d) Chromatograms of the DSP assay from an ...
A rare point mutation in the core promoter -270GC-rich box of PIGM, a housekeeping gene, disrupts binding of the generic transcription factor (TF) Sp1 and causes inherited glycosylphosphatidylinositol (GPI) deficiency (IGD). We show that whereas PIGM messenger RNA levels and surface GPI expression in IGD B cells are low, GPI expression is near normal in IGD erythroid cells. This divergent phenotype results from differential promoter chromatin accessibility and binding of Sp1. Specifically, whereas PIGM transcription in B cells is dependent on Sp1 binding to the -270GC-rich box and is associated with lower promoter accessibility, in erythroid cells, Sp1 activates PIGM transcription by binding upstream of (but not to) the -270GC-rich box. These findings explain intact PIGM transcription in IGD erythroid cells and the lack of clinically significant intravascular hemolysis in patients with IGD. Furthermore, they provide novel insights into tissue-specific transcriptional control of a housekeeping gene by a
Molecular Quantitative Genetics Postdoctoral Associate A postdoctoral position is available to work on the molecular basis of quantitative variation in maize and its ancestor, teosinte. The project involves an analysis of the teosinte branched1 (tb1) gene [see Genetics 141, 333-346 (1995); Nature 386, 485-488 (1997)]. One component of the project will measure the phenotypic effects of a set of tb1 alleles isolated from maize and teosinte and transferred into an isogenic background. The goal is to associate polymorphisms in the DNA sequences of these alleles with their variant phenotypes. The second component will involve the generation of a series of intragenic recombinants between a maize and a teosinte allele of tb1. These recombinant alleles will be used to map the genic regions that confer the different phenotypes of maize and teosinte. Both components of the project will involve statistical analysis of quantitative data and gene expression assays using northerns and tissue in situ ...
Q9CQF9.1,Pcyox1,Pcyox1, prenylcysteine oxidase 1 [Source:MGI Symbol;Acc:MGI:1914131]Mice homozygous for a knock-out allele are viable, fertile and free of obvious pathology despite a striking accumulation of both farnesylcysteine and geranylgeranylcysteine in brain and liver., , ,
The phenotype, a product of genotype, is the observable traits or characteristics of an organism, for example hair color, weight, or the presence or absence of a disease, except the genes themselves.[1] Differences in phenotype are caused by differences in genotype, but not all phenotypes necessarily have the same genotype. Organisms that contain a dominant allele and a recessive allele for a trait will have the same phenotype as an organism that has two of the same alleles for the dominant trait. ...
I think this is being somewhat misleading - classical arch-selectionists (self-styled "Darwinists" in the non-slur sense, such as Dawkins, Trivers, etc.) fully acknowledge that natural selection requires the existence of variation created through mutation and is powerless without the needed variation. (see the "Constraints on Perfection" chapter in "The Extended Phenotype" for example) What they dont believe is that any complexity at the phenotypic level can be created by anything other than selection. The paper of Lynchs that you link to is (pardon the pun) "neutral" on that issue, suggesting that the neutral processes merely provide a substrate for selection to act upon - hardly different from what Dawkins would say.. I personally think that we *will* find cases of phenotypic complexity created by neutral forces, but we havent found any convincing cases yet.. ...
In the terminology of evolutionary quantitative genetics, hybrid phenotypes can be considered as correlated responses to changes in the conspecific phenotypes (Johnson and Wade 1996; Johnson 2000). Unfortunately, we rarely know how evolutionary forces have acted upon conspecific phenotypes to generate the observed hybrid dysfunction. Indeed, we seldom know which conspecific phenotypes correlate with phenotypes of hybrid dysfunction.. Muller also realized that one consequence of these models is that all hybrid incompatibilities must be initially asymmetric. Recall the model above where combinations of the alleles a and b together are incompatible and the nascent species I and II are aaBB and AAbb, respectively. While a (species I) is incompatible with b (II), A (II) cannot be incompatible with B (I). Indeed, AABB is the ancestral genotype. It is possible that taxa I and II could further diverge at these loci to A1A1B1B1 and A2A2B2B2 where the A1-B2 and the A2-B1 combinations are both ...
Somatic mutations, loss of heterozygosity, DNA methylation, and histone acetylation, all potential mechanisms for establishing a genetically distinct set of plaque SMCs, have been described in previous studies of cells derived from the plaque.19,23,24,37-41 The most important additional evidence from the present study is the identification of a pattern of gene expression that consistently distinguished 5 different isolates of plaque SMCs from medial cells. The existence of this pattern implies that there is some common somatically heritable mechanism underlying differences between the plaque and medial cells. These data cannot distinguish between hypotheses attributing the expression phenotype to a genetic change as expected in neoplasia or to a nonneoplastic hypothesis, eg, a differentiation event with a change in phenotype as a consequence of epigenetic modifications.9,42,43. Microarray reports that distinguish genetically different cell types are common in the neoplasia literature. A classic ...
Author Summary Unlike Mendelian traits, where the genotype allows a direct prediction of the phenotype, predicting phenotypic values is not straightforward for complex traits, which arise from multiple segregating genes and their interactions with the environment. Here, a single genotype can often express different phenotypes in different environments. Such phenotypic plasticity is the counterpoint to
Our Biomedical Research Group (BRG) integrates research into the genotypic and phenotypic relationships underpinning our understanding of health, disease and ageing.
By Pranay Reddy 11. WINSTON-SALEM, NC-This summer I have done research at the Rheumatology lab at Wake Forest. I am working at the same location as last year but I have gained more responsiblity this year and can actually make an impact on the research. We are working with various Lupus phenotype mice that have various genes knocked out. Ultimately the Lupus phenotype mice are more prone to aterosclerosis, inflammation, skin disease and other lupus-like symptoms. We are mainly focusing on the cholesterol absorption of these mice in comparison to healthy, non-Lupus mice. We isolate the blood, and centrifuge it to seperate the blood from the plasma. We test the plasma for total cholesterol, free cholesterol, and triglyceride content. We also measure food intake by collecting the stool, and weighing both the mice and the food. The interesting discovery arises when we look at one particular phenotype. Because the paper is not yet published, my boss insists I keep the exact gene name quiet. Anyway, ...
Kayagaki N, Stowe IB, Lee BL, ORourke K, Anderson K, Warming S, Cuellar T, Haley B, Roose-Girma M, Phung QT, Liu PS, Lill JR, Li H, Wu J, Kummerfeld S, Zhang J, Lee WP, Snipas SJ, Salvesen GS, Morris LX, Fitzgerald L, Zhang Y, Bertram EM, Goodnow CC, Dixit VM.. READ. ...
Many complex disorders are linked to metabolic phenotypes. Revealing genetic influences on metabolic phenotypes is key to a systems-wide understanding of their interactions with environmental and lifestyle factors in their aetiology, and we can now e
Airway smooth muscle (ASM) cellular and molecular biology is typically studied with single-cell cultures grown on flat 2D substrates. However, cells in vivo exist as part of complex 3D structures, and it is well established in other cell types that altering substrate geometry exerts potent effects on phenotype and function. These factors may be especially relevant to asthma, a disease characterised by structural remodelling of the airway wall, and highlights a need for more physiologically relevant models of ASM function. We utilized a tissue engineering platform known as microfabricated tissue gauges to develop a 3D culture model of ASM featuring arrays of ~0.4 mm long, ~350 cell microtissues capable of simultaneous contractile force measurement and cell-level microscopy. ASM-only microtissues generated baseline tension, exhibited strong cellular organization and developed actin stress fibres, but lost structural integrity and dissociated from the cantilevers within three days. Addition of ...
An intermediate phenotype describes an organism that displays a blend of the phenotypic traits that its parents expressed. If a red flower cross-pollinates a white flower, and the resulting offspring...
This harmonises the phenotype data with genotype data, and also extract the relevant columns from a larger phenotype matrix, and also pre-calculates stratification indices and residuals. This is called by mPhen function, but quicker to do this just once for batched genotype data.
Contributed by: MarkU This week we had 4 prs.. pr. 1 7/9 RFP+ and no phenotype. pr. 2 23/30 RFP+ and no phenotype. pr.3 23/29 RFP+ and no phenotype. pr. 4 19/27 RFP+ and no phenotype. There were no observable phenotypes this week for this line.. Comments (0). ...
We have described GECKO, a simple method for constraining metabolic fluxes with enzymatic data that can be implemented for any GEM. Our method shares elements with previous approaches but stands out as the first method developed for implementing enzyme constraints on a genome‐scale model using experimentally measured turnover numbers and enabling the direct integration of absolute proteomic measurements. GECKO is based on the FBAwMC approach (Beg et al, 2007) but extended to limit each individual enzyme, thereby giving a physiologically constrained and thus more feasible solution. On the other hand, as GECKO uses inequalities instead of equalities, it is less constrained than RBA (Goelzer et al, 2015), thus relying less on the quality of the experimental data. Finally, GECKO does not require a detailed description of protein synthesis, and therefore, its implementation to model eukaryal organisms is less demanding compared to the ME‐modeling strategy (OBrien et al, 2013). Furthermore, the ...
The Carpenter paper1 is a review of the overall methods and individual steps for conducting a high content screening(HCS). First the author briefly introduced the key concepts of visual assays and its development to HCS. In visual assays, cells are labeled flurescently and can be observed using a microscope of their phenotype changes. The recent…
We explain Traits with video tutorials and quizzes, using our Many Ways(TM) approach from multiple teachers.This lesson will explain how traits are passed down by alleles, and that one particular genotype determines one particular phenotype
Frew, A J and ODonnell, R A (2002) Is there more than one inflammatory phenotype in asthma? Thorax, 57 (7). pp. 566-568. ISSN 0040-6376 Full text not available from this repository ...
Accessories and Reagents for Mammalian Cells Catalog # Phenotype MicroArray OmniLog Accessories 90931-O Validation Manual and Supplies (for Ovation Pipettes) 90931-M Validation Manual and Supplies (for Matrix Pipettes) 90701 OmniLog Trays - Type A MicroPlate footprint 3711 Ovation Electronic Pipettor (8-channel, repe
For many aspects of health, the critical issue is not whether an individual "has" the disorder, but "how much of it" [9]. Studies of clinically diagnosed disorder, which are often complex disorders with a range of signs, symptoms, and levels of severity, typically lump together individuals with very heterogeneous phenotypes into one category, often due to statistical constraints (a study would require a large number of participants to look at subtypes of a disorder). Heterogeneity of the case definition for these complex disorders is problematic for etiologic research because different etiologic factors may be at play for the various traits that are included in the diagnostic criteria. This has been cited as a major limitation for research on ASD [10] and the research community has responded with an effort to create new dimensional classifications of mental disorders based on pathophysiology through the Research Domain Criteria (RDoC) initiative [11]. Heterogeneity in current categorical ...
pr.1- 19/27 RFP+, no phenotype.. pr.2- 22/30 RFP+, no phenotype.. pr.3- 15/27 RFP+, no phenotype.. pr. 4- 22/28 RFP+, no phenotype.. ...
Carcinomas account for most tumors and arise from the aberrant control of proliferation and the preceding dedifferentiation of epithelial cells. Upon progression of epithelial tumors to more malignant stages, carcinoma cells lose specific intercellular contacts, which are required to maintain the regular turnover and typical architecture of epithelial structures in the adult. The dissociation of cell-to-cell contacts and the concomitant acquisition of a fibroblastoid morphology is accompanied by the rearrangement of the cytoskeleton and the secretion of extracellular matrix proteins, which facilitates the adoption of a migratory and invasive phenotype at later steps of carcinogenesis ( Birchmeier et al., 1995; Hay, 1990). A similar morphogenetic process, referred to as epithelial to mesenchymal (fibroblastoid) transition, occurs under precise spatio-temporal control during embryonic development, and it is conceivable that mechanisms contributing to this process might be reactivated upon ...
Definition: The most common phenotype or genotype in a natural population; also, a phenotype or genotype arbitrarily designed as a standard for comparison. Source: Essential Genetics: A genomics perspective (2006) 4th Ed. ...
Classifying evolution as an ontogeny relieves the environment from having to account for phenotypes, something the authors insist that it cannot do. They assert, ". . . multiple levels of internal constraints on possible phenotypes make the notion of evolution as the product of external selection operating on phenotypic variations generated at random radically untenable." In a developmental model of evolution, however, the environment doesnt bestow medals of fitness on adaptive phenotypes, but functions as it does in ontogeny. A developmental model of evolution demotes the environment, subordinating it to the needs of ontogenetic programs. In this supportive role, it can function well or poorly, and in so doing facilitate or retard phenotypic expression. Nature in this model cannot select, as in the Darwinian model; it can only nurture or neglect. The environment does not pick any particular path, but it will feed or starve whoever ventures ...
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Posted on May 16, 2017 By Elisabetta Profumo Evolving Concepts Evolving Concepts Summary Th17 cells have heterogeneous phenotypes and functions, and can have pro- or anti-inflammatory activities. Pathogenic Th17 cells have been associated to several inflammatory and autoimmune diseases. Besides IL-17A and IL-17F, they also produce GM-CSF and IFN-γ, and express high levels of IL-23R. These cells are refractory to glucocorticoid (GC)-mediated T cell suppression, […]. ...
In the clinic, both the selection of patients for some treatments and the development of new therapies relies heavily on the underlying genetic profile of a particular tumor (14). Implicit in this approach is the hypothesis that specific mutations produce predictable phenotypes that can be targeted by a single method in a variety of cancer types. This hypothesis has also been applied to metabolism, where stereotyped driver mutation-metabolic phenotype relationships based largely on in vitro studies have been described (15-17). Our findings, however, suggest that tissue of origin and tumor environment, in addition to genetics, are important factors that influence metabolic weaknesses for a given tumor. Consistent with this idea, administration of chemotherapies that target nucleotide metabolism has historically been based on tumor type rather than genetics (18).. Using mouse and human data, we have explored metabolic interactions between nascent tumors and their host environment, both local and ...
This is a version of MIEP CD4+ T Cell computational model released on Feburary 5th, 2014. The model is available for download in CellDesigner xml format. We have tested that the model is compatible with Cell Designer 4.3. Here is the release note: The new phenotypes of Th9, Th22, Tr1 and Tfh were added via interactions with new nodes for IL-22, AhR, IL-9, PU.1, BLIMP1, BCL-6, c-MAF, and IL-27. Th9 relies on the presence of IL-4 and TGF-beta in the PU-1 pathway and produces IL-10, IL-9, and IL-21. Cytokines TGF-beta and IL-4 induce the PU.1 transcription factor, which then upregulates IL-9. It also promotes IL-21 via the BCL-6 pathway. IL-21 then promotes c-MAF phosphorylation which upregulates IL-10. Th22 results from the AHR pathway requiring IL-6 and TNF-alpha and upregulates TNF-alpha and IL-22. TNF-alpha and IL-6 work together to promote AhR phosphorylation, which is also promoted by IL-27. AhR then increases IL-6 and IL-22 production. IL-10 promotes the Tr1 phenotype. Tfh results from the ...
This is a version of MIEP CD4+ T Cell computational model released on Feburary 5th, 2014. The model is available for download in CellDesigner xml format. We have tested that the model is compatible with Cell Designer 4.3. Here is the release note: The new phenotypes of Th9, Th22, Tr1 and Tfh were added via interactions with new nodes for IL-22, AhR, IL-9, PU.1, BLIMP1, BCL-6, c-MAF, and IL-27. Th9 relies on the presence of IL-4 and TGF-beta in the PU-1 pathway and produces IL-10, IL-9, and IL-21. Cytokines TGF-beta and IL-4 induce the PU.1 transcription factor, which then upregulates IL-9. It also promotes IL-21 via the BCL-6 pathway. IL-21 then promotes c-MAF phosphorylation which upregulates IL-10. Th22 results from the AHR pathway requiring IL-6 and TNF-alpha and upregulates TNF-alpha and IL-22. TNF-alpha and IL-6 work together to promote AhR phosphorylation, which is also promoted by IL-27. AhR then increases IL-6 and IL-22 production. IL-10 promotes the Tr1 phenotype. Tfh results from the ...
Correlates variation within the meta-genome to target species phenotype variations in meta-genome with association studies. Follows the pipeline described in Chaston, J.M. et al. (2014) ,doi:10.1128/mBio.01631-14,.. ...
Abstract Mp are crucial for tissue repair and regeneration but can also contribute to tissue damage and fibrosis. Mp can adopt a variety of functional phenotypes in response to dif..
Restoration of a normal cellular phenotype in CHM1 RPE following transduction with AAV2/5-CAG-CHM. (a) A representative in vitro prenylation, followed by wester
Matching phenotypes have molecular bases that can be studied on two levels: first the functional level on which an interaction occurs between the defense systems of the host and the molecules of the pathogene/symbiont that are produced to counteract these. A special emphasis of our work lies therefore on acquired and innate immunity of invertebrates. A second study level concerns the heritable information that is used to code for compatible and incompatible molecular phenotypes. Heritable phenotypic variants that are the basis for host-parasite/symbiont co-evolution can be caused by changes in the genetic and/or epigenetic information and a major goal of our research is to characterize the relative importance of these both systems in rapidly evolving biological systems. ...
Barcelona: divine CLIE, 2015. Contact Us using online default raison is to become predetermined into process when core surfaces have phenomics for magazine requests. only to Liberal new signals should in be dispatched as formulations for apostolic pop.
Woody Allen, Elizabeth Shue and Billy Crystal.Film: Deconstructing WoodyBy Sally Ogle DavisRemember when Woody Allen, following the Soon Yi scandal, wasask
Interrogating conserved elements of diseases using Boolean combinations of orthologous phenotypes John O Woods , Matthew Z Tien , Edward M Marcotte doi: http://dx.doi.org/10.1101/017947 Conserved genetic programs often predate the homologous structures and phenotypes to which they give rise; eyes, for example, have evolved several dozen times, but their development seems to involve a common…
The results of this study show that the level of Her2 expression is variable in prostate cancer and that an increased Her2 expression level is associated with unfavorable tumor phenotype, rapid tumor cell proliferation, and poor prognosis.. In this study, a TMA containing one 0.6-mm tissue core per cancer was used. The ability to independently detect significant associations with tumor phenotype and prognosis with two different immunohistochemistry protocols highlights the power of this TMA approach for identification of clinically relevant associations. It seems that the high number of cases analyzed in combination with high level of standardization of both immunostaining and analysis compensates for the low amount of tissue analyzed per patient. Literally, all previous studies using large TMAs had succeeded to identify previously well-established associations between molecular findings and tumor phenotype and prognosis (31-33).. Two different antibodies were used in this study to minimize the ...
The Flexible Phenotype attempts a true synthesis of animal physiology, behavior, and ecology by developing an empirical argument that describes the intimate connections between animal phenotype and environment. It starts with a synthesis of the principles guiding current research in ecophysiology, behavior, and ecology, illustrating each aspect with the detailed results of empirical work on as wide a range of organisms as possible.
From 29 June until 3 July, PHENOTYPE will be present during the Making Cities Liveable Conference focussing on Achieving Green, Healthy Cities. The...
And the "one gene, one trait" model violates everything we do know about the phenotype and genotype. Every gene is pleiotropic - it influences multiple traits to varying degrees. Every trait is multigenic - multiple genes contribute to the expression of every phenotypic detail. The bean-bag model is totally inadequate for describing the relationship of genes to physiology and morphology. Instead of a bean-bag, I prefer to think of the genome as comparable to a power spectrum, an expression of the organism in a completely different domain. But I wrote about that previously, and Ill make this explanation a little simpler.. Heres the problem: you cant always reliably predict the phenotype from the genotype. We have a skewed perspective on the problem, because historically, genetics has first searched for strong phenotypes, and then gone looking for the genetic cause. Weve been effectively blind to many subtle phenotypic effects, simply because we dont know how to find them. When we go the ...
The mass download-function of openSNP allows you to easily download the full genotyping raw-data in the file formats that are provided by 23andMe, deCODEme and FamilyTreeDNA. As the files can be grouped by their variations for specific phenotypes it is easy to get datasets that are already usable for association studies.. ...
The mass download-function of openSNP allows you to easily download the full genotyping raw-data in the file formats that are provided by 23andMe, deCODEme and FamilyTreeDNA. As the files can be grouped by their variations for specific phenotypes it is easy to get datasets that are already usable for association studies.. ...
phenotype - relating to how an organism behaves, based on how its genotype relates to the environment. Phenotypic resistance tests look at whether HIV continues to grow in a test tube after increasing concentrations of a drug are added. See genotype.. ...
Gene reports include a comprehensive description of function and biological process as well as disease, expression, regulation and phenotype information.
When two alleles are codominant to each other, the appearance of the heterozygotes is different from both of the homozygotes. There are many synonyms for codominant, such as incomplete dominant, semidominant, partially dominant, mostly dominant, etc. What all of these terms have in common is that they specify a relationship where the different pairings of two genes can create three distinct phenotypes, as opposed to a dominant/recessive relationship where only two phenotypes exist. For all practical purposes, as far as this distinction is concerned, the above terms mean the same thing ...
Imagine if we could compute across phenotype data as easily as genomic data; this article calls for efforts to realize this vision and discusses the potential benefits.. ...
Cardiovascular disease is the leading cause of death in the United States and other Western countries. Although many factors add to the risk of cardiovascular d...
The idea of an extended phenotype refers to the expression of genes in the behavior of an organism rather than its physical composition. The way a beaver makes a dam is influenced by the genetic...
PT-3295 Selecting from the quick search suggestions a phenotype that is already selected and had details attached appears to cause the loss of the details ...
Selecting from the quick search suggestions a phenotype that is already selected and had details attached appears to cause the loss of the ...
Because I couldnt think of a better word to describe them, Phenotypes in this RP refers to the modifications or abilities that a particular character may poss
The idea about Phenotype was to achieve a unique visual effect by touching serifs. Characters form ligatures, but every combination looks different. Touchi
Sometimes you just want to know the few, essential markers for phenotyping and identifying your immune cells in flow cytometry (rather than every CD marker it expresses). Our new page lists the hallmark markers typically used to phenotype several popular immune cells in research. BioLegend develops and manufactures world-class, cutting-edge immunological reagents for biomedical research, offered at an outstanding value.
The Sattler Laboratory is currently studying different downstream pathways that are hypothesized as altered due to certain pathogenic phenotypes. Read more.
Purpose : Age-related macular degeneration (AMD) is a multifactorial disease with a highly variable phenotypic presentation. Recently, a Genome-Wide Association Study identified 52 single nucleotide polymorphisms (SNPs) that showed an association with AMD. These genetic variants may represent different pathways involved in AMD pathogenesis and contribute to the variability of the phenotype. We performed a Deep Phenotype Association Study (DeePAS) in Age-Related Eye Disease Study 2 (AREDS2) to identify variants that are related to specific AMD and non-AMD phenotypes. Methods : Genotyping information of the 52 GWAS SNPs was available for 1826 AREDS2 participants. AREDS2 participants have had detailed phenotyping for AMD characteristics and have been assessed for phenotypes related to other retinal disease, cataract, cardiovascular disease, neurological disease, cognitive function, gastro-intestinal and endocrine disease, nutrient serum levels and other. In total, we distinguished 138 phenotypes. ...
From cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypes - Age-associated diseases;Cell senescence;Differential expression;Senescence-associated secretory phenotypes (SASP);
OBJECTIVE--To elucidate the relationship, if any, between lipid abnormalities and apolipoprotein E (apo E) polymorphism, by investigating apo E phenotype and allele frequency. METHODS--Fasting blood samples were taken for determination of apo E phenotype and serum lipids in 221 male patients with gout and 141 control male subjects. Apo E phenotype was determined by one dimensional flat gel isoelectric focusing. RESULTS--Frequencies of apo E phenotypes in gout were apo E3/3 67.9%, E4/3 18.1%, E4/4 2.3%, E4/2 1.8%, E3/2 9.5%, and E2/2 0.5%; those in control male subjects were 74.5%, 15.6%, 0%, 1.4%, 7.1%, and 1.4%, respectively. Frequencies of the e2, e3, and e4 alleles in gout were 0.061, 0.817 and 0.122, compared with the corresponding control frequencies of 0.057, 0.858 and 0.085. These differences in apo E phenotype and allele frequencies between gout and control subjects were not significant. The frequency of apo e4 allele in hyperlipidaemic gout subjects was significantly greater than that ...
Lindqvist-Kreuze, H.; Gastelo, M.; Perez, W.; Forbes, G. A.; Koeyer, D. de.; Bonierbale, M. 2014. Phenotypic stability and genome wide association study of late blight resistance in potato genotypes adapted to the tropical highlands. Phytopathology. (USA). ISSN 0031-949X. 104(6):624-633 ...
CpG island methylator phenotype (CIMP) involves the targeting of multiple genes by promoter hypermethylation. Telomerase plays an important role in the development of cellular immortality and oncogenesis. To gain insight into the role of epigenetic aberration of telomerase-related genes in hepatocarcinogenesis, we determined a hypermethylation profile in HCC. We examined the promoter methylation status of 9 genes associated with telomerase activity in 120 HCC, 120 cirrhosis tissues and 10 normal liver tissues by methylation-specific PCR. Assay of telomerase activity was by TRAP-ELISA. The frequency of promoter methylation of each gene was P21 63.3%, P15 42.5%, P16 62.5%, P53 14.2%, RB 32.5%, P27 48.3%, WTI 54.2%, E2F-1 70.8% and P300 65.8% of 120 HCC. Methylation status of P21, P15, P16, WTI and E2F-1 was significantly associated with HCC and nontumor tissues (p | 0.05). CIMP+ was detected in 61.7% (74/120) HCC and 15% (18/120) cirrhosis tissues, no CIMP+ was present in normal liver tissues (p | 0.001).
Background: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS. Methods: We screened 163 affected individuals for coding region mutations in the known genes, 90 for genomic rearrangements, 19 for deep intronic variants in NIPBL and 5 had whole-exome sequencing. Results: Pathogenic mutations [including mosaic changes] were identified in: NIPBL 46 [3] (28.2%); SMC1A 5 [1] (3.1%); SMC3 5 [1] (3.1%); HDAC8 6 [0] (3.6%) and RAD21 1 [0] (0.6%). One individual had a de novo 1.3 Mb deletion of 1p36.3. Another had a 520 kb duplication of 12q13.13 encompassing ESPL1, encoding separase, an enzyme that cleaves the cohesin ring. Three de novo mutations were
MalaCards based summary : Rad21-Related Cornelia De Lange Syndrome, also known as cornelia de lange syndrome 4, is related to cornelia de lange syndrome 4 and cornelia de lange syndrome. An important gene associated with Rad21-Related Cornelia De Lange Syndrome is RAD21 (RAD21 Cohesin Complex Component ...
The Cornelia de Lange Syndrome (CdLS) Foundation is a family support organization that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS make informed decisions throughout their lives. The CdLS Foundation is a national non-profit organization that has served people with CdLS and their families since 1981. The Foundations mission is reflected in its slogan: Reaching Out, Providing Help, and Giving Hope.
Looking for online definition of Cornelia de Lange in the Medical Dictionary? Cornelia de Lange explanation free. What is Cornelia de Lange? Meaning of Cornelia de Lange medical term. What does Cornelia de Lange mean?

From cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypes |...From cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypes |...

... differential mechanisms of action of senescence-associated secretory phenotypes - Age-associated diseases;Cell senescence; ... Coppe JP, Patil CK, Rodier F et al (2008) Senescence-associated secretory phenotypes reveal cell-nonautonomous functions of ... Vital P, Castro P, Tsang S and Ittmann M (2014) The senescence-associated secretory phenotype promotes benign prostatic ... From cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypes. ...
more infohttp://www.koreascience.or.kr/article/ArticleFullRecord.jsp?cn=E1MBB7_2015_v48n10_549

Frontiers | Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome...Frontiers | Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome...

... cohorts fulfilling the Canada 2003 criteria for ME/CFS were evaluated with respect to cytotoxic lymphocyte phenotype and ... cohorts fulfilling the Canada 2003 criteria for ME/CFS were evaluated with respect to cytotoxic lymphocyte phenotype and ... Screening NK-, B- and T-cell phenotype and function in patients suffering from chronic fatigue syndrome. J Transl Med (2013) 11 ... Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients. Jakob ...
more infohttps://www.frontiersin.org/articles/10.3389/fimmu.2017.00723/full

Thrifty phenotype - WikipediaThrifty phenotype - Wikipedia

Therefore, the thrifty phenotype can be described as a manipulation of offspring phenotype for the benefit of maternal fitness ... This paradox generates doubts about whether the thrifty phenotype is adaptive for human offspring. Thus, the thrifty phenotype ... The thrifty phenotype hypothesis says that reduced fetal growth is strongly associated with a number of chronic conditions ... The thrifty phenotype is a component of the fetal origins hypothesis. These chronic conditions include coronary heart disease, ...
more infohttps://en.wikipedia.org/wiki/Thrifty_phenotype

Genotype-phenotype distinctionGenotype-phenotype distinction

The mapping of a set of genotypes to a set of phenotypes is sometimes referred to as the genotype-phenotype map. ... in which case it is not possible to exactly predict the genotype from knowledge of the phenotype (i.e. the genotype-phenotype ... The genotype-phenotype distinction is drawn in genetics. "Genotype" is an organisms full hereditary information, even if not ... A phenotype is said to be canalized if mutations (changes in the genome) do not noticeably affect the physical properties of ...
more infohttp://www.princeton.edu/~achaney/tmve/wiki100k/docs/Genotype-phenotype_distinction.html

Cellular Phenotype DatabaseCellular Phenotype Database

The Cellular Phenotype database provides easy access to phenotypic data derived from high-throughput screening, facilitating ... Search by «Any study term» provides results for phenotype terms through the studies having common genes knocked down.. Search ... by study acronim provides results for phenotype terms observed together for a given reagent/gene ...
more infohttps://www.ebi.ac.uk/fg/sym

RhymeZone: phenotype definitionsRhymeZone: phenotype definitions

Search for phenotype at other dictionaries: OneLook, Oxford, American Heritage, Merriam-Webster, Wikipedia. See phenotype used ... Definitions of phenotype: *noun: what an organism looks like as a consequence of its genotype; two organisms with the same ...
more infohttp://www.rhymezone.com/r/d=phenotype

mcrBC phenotypemcrBC phenotype

... Richard P. Grant see_sig at cmtech.co.delete.uk Tue Sep 22 09:45:46 EST 1998 *Previous message: iodine-125 in ...
more infohttp://www.bio.net/bionet/mm/methods/1998-September/070451.html

Phenotype - WikipediaPhenotype - Wikipedia

The extended phenotypeEdit. Main article: The Extended Phenotype. Richard Dawkins described a phenotype that included all ... Behavioral phenotypes include cognitive, personality, and behavioral patterns. Some behavioral phenotypes may characterize ... Europhenome: Access to raw and annotated mouse phenotype data. *"Wilhelm Johannsens Genotype-Phenotype Distinction" by E. ... Genotypes often have much flexibility in the modification and expression of phenotypes; in many organisms these phenotypes are ...
more infohttps://en.m.wikipedia.org/wiki/Phenotypes

Microarrays as phenotypeMicroarrays as phenotype

Phenotype is the outward manifestation of the genotype. For example, a person may have genes for eye color. That is that ... Blue eyes is the phenotype. The microarray data Shaulsky and his collaborators used show that they can determine the order in ... This means the microarray provides a good phenotype that is quantitative. We can prove that gene A comes before gene B and give ... "Microarray data are good phenotypes to determine the order of genes and are a good surrogate measure of cell status," said Dr. ...
more infohttps://www.innovations-report.com/html/reports/life-sciences/report-42852.html

Phenotype Image DetailPhenotype Image Detail

Hepatic lipid accumulation is observed in 5 month old male mice on a standard or high fat (HF) diet. A: Hematoxylin and eosin liver histology of wild type (WT) and Ppargtm1Lja/Pparg+ (KI) mice. Both macrovesicular and microvesicular fat depositions are observed in mutant mice on a HF diet. PV, peripheral vein; CV, central vein. B: Hepatic TG (triglyceride) content for wild type and mutant mice. The mean +/- standard deviation is presented for the four groups of 5 month old mal mice; n = 4 or 5 for each group ...
more infohttp://www.informatics.jax.org/image/pheno/MGI:3797776

Phenotype Image DetailPhenotype Image Detail

Compared with the wild-type mouse (left), the Sox9tm2Crm/Sox9tm2Crm H2afvTg(Wnt1-cre)11Rth/0 skeleton shows obvious craniofacial deformities characterized as a domed skull and short snout. However, no abnormalities are seen in the trunk or limbs ...
more infohttp://www.informatics.jax.org/image/pheno/MGI:3718201

Genotype & PhenotypeGenotype & Phenotype

Selection acts on phenotypes because differential reproduction and survivorship depend on phenotype. If the phenotype affecting ... PHENOTYPE AND GENOTYPE Definitions: phenotype is the constellation of observable traits; genotype is the genetic endowment of ... Not all pairs of alleles will have the same phenotype: dominance when AA = Aa in phenotype, A is dominant, a is recessive. An ... In a narrow genetic sense, the genotype defines the phenotype. But how, in and evolutionary sense, does the phenotype ...
more infohttp://biomed.brown.edu/Courses/BIO48/5.Geno.Pheno.HTML

Genotype and phenotype basics | TheBodyGenotype and phenotype basics | TheBody

... what a genotype test is and what a phenotype test is? I understand that they test for different things. Regards, Rog from UK... ... In contrast, a phenotype test is a measure of the ability of a single patients virus to replicate in the presence of each ART ... A phenotype is reported to physicians as a comparison of the patients specific virus to a known control wild type virus. ... In all cases, the phenotype results from the genotype, i.e. usually a structural change will occur first, and soon thereafter a ...
more infohttps://www.thebody.com/article/genotype-phenotype-basics

Workshop: The Neuronal PhenotypeWorkshop: The Neuronal Phenotype

... Denes V. Agoston vagoston at helix.nih.gov Tue Mar 23 10:30:49 EST 1993 *Previous message: ... The neuronal phenotype: molecular genetics, cell specification, plasticity and therapeutical frontiers. August 29-September 3 ... Maintanance and plasticity of neurotransmitter phenotypes; 6.Therapeutical frontiers Partial list of speakers: Campos-Ortega, ...
more infohttp://www.bio.net/bionet/mm/neur-sci/1993-March/011914.html

The Daylily Dictionary: PhenotypeThe Daylily Dictionary: Phenotype

The visible aspects of a plants genetic makeup, usually expressed with words like tall or short; the observable hereditary characteristics. See GENOTYPE. ...
more infohttps://www.daylilies.org/ahs_dictionary/phenotype.html

Genotypes and Phenotypes - YouTubeGenotypes and Phenotypes - YouTube

Genotypes and Phenotypes Paul Andersen explains how changes in the genotype of an individual can affect the phenotype. He ... 033 - Genotypes and Phenotypes. Paul Andersen explains how changes in the genotype of an individual can affect the phenotype. ... He begins with genotype:phenotype::letters:story analogy. He explains how mutations can be neutral, beneficial or harmful. He ...
more infohttps://www.youtube.com/watch?v=OaovnS7BAoc&feature=youtu.be

Antigen Testing, Rh PhenotypeAntigen Testing, Rh Phenotype

Rh Phenotype,ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and ...
more infohttp://www.bio-medicine.org/medicine-products/Antigen-Testing--Rh-Phenotype-21196-1/

Phenotype TwinsPhenotype Twins

Well, not identical twins, but pretty darn close. A Welsh actor and An Argentine (of North Italian descent) Pope: http://i2.wp.com/eveningharold.com/wp-content/uploads/2013/09/j2nrhh9.jpg The Welsh actor is now playing the Argentine Pope in a movie. :)
more infohttps://www.eupedia.com/forum/threads/39605-Phenotype-Twins?s=e9422148aa73e8094bf8d098a58efdb6&p=595584

Phenotype TwinsPhenotype Twins

Well, not identical twins, but pretty darn close. A Welsh actor and An Argentine (of North Italian descent) Pope: http://i2.wp.com/eveningharold.com/wp-content/uploads/2013/09/j2nrhh9.jpg The Welsh actor is now playing the Argentine Pope in a movie. :)
more infohttps://www.eupedia.com/forum/threads/39605-Phenotype-Twins?s=3c3f1b8e47964a8c88b86f1bdf7c2352&p=595584

phenotype of the dayphenotype of the day

... A Mayan discovery Posted July 17, 2012 by mangrist in bottom up, Here is a Human Bean, phenotype of the ... Phenotype of the day Posted February 3, 2012 by mangrist in bottom up, phenotype of the day ... Posted June 4, 2012 by mangrist in Me Me Me, Personal Genomics, phenotype of the day, the subject of humans, When Im in the ...
more infohttp://blogs.plos.org/genomeboy/category/phenotype-of-the-day/

UMLS Metathesaurus - HPO (Human Phenotype Ontology) - Metathesaurus RepresentationUMLS Metathesaurus - HPO (Human Phenotype Ontology) - Metathesaurus Representation

HPO (Human Phenotype Ontology) - Metathesaurus Representation. HPO (Human Phenotype Ontology) - Metathesaurus Representation ...
more infohttps://www.nlm.nih.gov/research/umls/sourcereleasedocs/current/HPO/metarepresentation.html

What is an extended phenotype? | Reference.comWhat is an extended phenotype? | Reference.com

The idea of an extended phenotype refers to the expression of genes in the behavior of an organism rather than its physical ... What is an intermediate phenotype?. A: An intermediate phenotype describes an organism that displays a blend of the phenotypic ... Can you provide an example of a phenotype and a genotype?. A: An example of a genotype is an organisms blood type, while an ... A: An incomplete dominance Punnett square is a diagram that predicts the outcome of genotype as well as phenotype in organisms ...
more infohttps://www.reference.com/science/extended-phenotype-ac8d5c7694f9678d

Glossary - PhenotypeGlossary - Phenotype

The phenotype is influenced by both the individuals environment and their genotype. In co... ... Phenotype. Term. Definition. Phenotype. The observable characteristics of an individual. The phenotype is influenced by both ... In coat color, animals with a genotype of EE will have a black coat phenotype. Environmental influences may alter the phenotype ... Phenotype - The observable characteristics of an individual. ...
more infohttps://simmental.org/site/index.php/glossary/376-phenotype

Genotype-Phenotype Connection Kit | Carolina.comGenotype-Phenotype Connection Kit | Carolina.com

Genotype-Phenotype Connection Kit. 6 Items Exclusive. Genotype-Phenotype Connection Kit is rated 5.0 out of 5 by 1. ... A unique kit using a colorful model microbe to help students understand the connection between genotypes and phenotypes*Robust ... Genotype-Phenotype Connection Extraction and Amplification Kit (with prepaid coupon) Item #211217 *. ... Genotype-Phenotype Connection Extraction, Amplification, Electrophoresis Kit with GelGreen Stain (with prepaid coupon) Item # ...
more infohttps://www.carolina.com/pcr-kits/genotype-phenotype-connection-kit/FAM_211217.pr
  • The Cellular Phenotype database provides easy access to phenotypic data derived from high-throughput screening, facilitating data sharing and integration. (ebi.ac.uk)
  • The term "phenotype" has sometimes been incorrectly used as a shorthand for phenotypic difference from wild type , bringing the absurd statement that a mutation has no phenotype. (wikipedia.org)
  • In all cases, the phenotype results from the genotype, i.e. usually a structural change will occur first, and soon thereafter a phenotypic change will result. (thebody.com)
  • Forty-eight patients from two independent cohorts fulfilling the Canada 2003 criteria for ME/CFS were evaluated with respect to cytotoxic lymphocyte phenotype and function. (frontiersin.org)
  • It has been suggested that the thrifty phenotype is the consequence of three unlike adaptive processes: maternal effects, niche construction and developmental plasticity, which all are influenced by the brain. (wikipedia.org)
  • In contrast, a phenotype test is a measure of the ability of a single patient's virus to replicate in the presence of each ART drug. (thebody.com)
  • Model of dominance from enzyme activity: no copies produce no phenotype, one copy produces x amount of product and two copies produces 2x then the alleles are additive and there is no dominance (intermediate inheritance). (brown.edu)
  • The link between regulation of INO1 gene expression and the Opi − phenotype is further supported by the existence of the dominant OPI5+ mutant allele ( S wift and M c G raw 1995 ). (genetics.org)
  • The opi1 mutant o ver p roduces and excretes i nositol into the growth medium in the absence of inositol and choline (Opi − phenotype). (genetics.org)
  • dominance when AA = Aa in phenotype, A is dominant, a is recessive . (brown.edu)
  • Proponents of this idea say that in poor nutritional conditions, a pregnant woman can modify the development of her unborn child such that it will be prepared for survival in an environment in which resources are likely to be short, resulting in a thrifty phenotype ( Hales & Barker, 1992 ). (wikipedia.org)
  • Thus, the thrifty phenotype should be considered as the capacity of all offspring to respond to environmental cues during early ontogenetic development. (wikipedia.org)
  • Phenotype = genotype + development (in a given environment). (brown.edu)
  • Individuals with a thrifty phenotype will have "a smaller body size, a lowered metabolic rate and a reduced level of behavioural activity… adaptations to an environment that is chronically short of food" (Bateson & Martin, 1999 ). (wikipedia.org)
  • The shells of individuals within the bivalve mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. (wikipedia.org)
  • Despite its seemingly straightforward definition, the concept of the phenotype has hidden subtleties. (wikipedia.org)
  • How paternal environmental conditions influence the phenotype of progeny is now a tractable question, and researchers are exploring potential mechanisms underlying such effects. (nih.gov)
  • If canalization is not present, small changes in the genome have an immediate effect on the phenotype that develops. (princeton.edu)
  • As a result, the exterior appearance of plants - the phenotype - can be changed for the first time through a very tightly regulated intervention for a limited time directly on protein levels. (idw-online.de)