Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.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.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Deletion: Actual loss of portion of a chromosome.Base Pairing: Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.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).Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Base Composition: The relative amounts of the PURINES and PYRIMIDINES in a nucleic acid.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Nucleic Acid Conformation: The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.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.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Base Pair Mismatch: The presence of an uncomplimentary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA; (NUCLEIC ACID HETERODUPLEXES).Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Chromosome Painting: A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.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.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.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.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.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Artificial, Yeast: Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.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.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Chromosomes, Human, 21-22 and Y: The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.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.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.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.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.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.DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Centromere: The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.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.X Chromosome Inactivation: A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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.Meiosis: A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.Oligodeoxyribonucleotides: A group of deoxyribonucleotides (up to 12) in which the phosphate residues of each deoxyribonucleotide act as bridges in forming diester linkages between the deoxyribose moieties.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.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.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.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.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.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.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).Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).Binding Sites: The parts of a macromolecule that directly participate in its specific combination with another molecule.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.Models, Molecular: Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.Hydrogen Bonding: A low-energy attractive force between hydrogen and another element. It plays a major role in determining the properties of water, proteins, and other compounds.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.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."DNA Replication: The process by which a DNA molecule is duplicated.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.ThymineDNA 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.Genes, Bacterial: The functional hereditary units of BACTERIA.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.RNA: A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.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.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.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.Nucleic Acid Denaturation: Disruption of the secondary structure of nucleic acids by heat, extreme pH or chemical treatment. Double strand DNA is "melted" by dissociation of the non-covalent hydrogen bonds and hydrophobic interactions. Denatured DNA appears to be a single-stranded flexible structure. The effects of denaturation on RNA are similar though less pronounced and largely reversible.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.Skull Base: The inferior region of the skull consisting of an internal (cerebral), and an external (basilar) surface.Genetic Variation: Genotypic differences observed among individuals in a population.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Oligonucleotides: Polymers made up of a few (2-20) nucleotides. In molecular genetics, they refer to a short sequence synthesized to match a region where a mutation is known to occur, and then used as a probe (OLIGONUCLEOTIDE PROBES). (Dorland, 28th ed)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.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.Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.GuanineSchiff Bases: Condensation products of aromatic amines and aldehydes forming azomethines substituted on the N atom, containing the general formula R-N:CHR. (From Grant & Hackh's Chemical Dictionary, 5th ed)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)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.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.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Cytosine: A pyrimidine base that is a fundamental unit of nucleic acids.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.DNA, Recombinant: Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.Nucleic Acid Heteroduplexes: Double-stranded nucleic acid molecules (DNA-DNA or DNA-RNA) which contain regions of nucleotide mismatches (non-complementary). In vivo, these heteroduplexes can result from mutation or genetic recombination; in vitro, they are formed by nucleic acid hybridization. Electron microscopic analysis of the resulting heteroduplexes facilitates the mapping of regions of base sequence homology of nucleic acids.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Bacterial Proteins: Proteins found in any species of bacterium.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.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.Chromosomal Proteins, Non-Histone: Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Nondisjunction, Genetic: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.Kinetics: The rate dynamics in chemical or physical systems.Chromosomes, Artificial, Human: DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Adenine: A purine base and a fundamental unit of ADENINE NUCLEOTIDES.Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Chromosome Walking: A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Gene Library: A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.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)Regulatory Sequences, Nucleic Acid: Nucleic acid sequences involved in regulating the expression of genes.Operon: In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.Genomic Library: A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).Spindle Apparatus: A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.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.Thermodynamics: A rigorously mathematical analysis of energy relationships (heat, work, temperature, and equilibrium). It describes systems whose states are determined by thermal parameters, such as temperature, in addition to mechanical and electromagnetic parameters. (From Hawley's Condensed Chemical Dictionary, 12th ed)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.Oligonucleotide Probes: Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Deoxyribonucleases, Type II Site-Specific: Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Genes, Regulator: Genes which regulate or circumscribe the activity of other genes; specifically, genes which code for PROTEINS or RNAs which have GENE EXPRESSION REGULATION functions.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.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.HeLa Cells: The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.Chromatids: Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Genes, Fungal: The functional hereditary units of FUNGI.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.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 Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.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.Deoxyribonuclease I: An enzyme capable of hydrolyzing highly polymerized DNA by splitting phosphodiester linkages, preferentially adjacent to a pyrimidine nucleotide. This catalyzes endonucleolytic cleavage of DNA yielding 5'-phosphodi- and oligonucleotide end-products. The enzyme has a preference for double-stranded DNA.Magnetic Resonance Spectroscopy: Spectroscopic method of measuring the magnetic moment of elementary particles such as atomic nuclei, protons or electrons. It is employed in clinical applications such as NMR Tomography (MAGNETIC RESONANCE IMAGING).Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.Abnormalities, MultipleSubstrate Specificity: A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.Conserved Sequence: A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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.UracilIntercalating Agents: Agents that are capable of inserting themselves between the successive bases in DNA, thus kinking, uncoiling or otherwise deforming it and therefore preventing its proper functioning. They are used in the study of DNA.Single-Strand Specific DNA and RNA Endonucleases: Enzymes that catalyze the endonucleolytic cleavage of single-stranded regions of DNA or RNA molecules while leaving the double-stranded regions intact. They are particularly useful in the laboratory for producing "blunt-ended" DNA molecules from DNA with single-stranded ends and for sensitive GENETIC TECHNIQUES such as NUCLEASE PROTECTION ASSAYS that involve the detection of single-stranded DNA and RNA.Homozygote: An individual in which both alleles at a given locus are identical.DNA, Viral: Deoxyribonucleic acid that makes up the genetic material of viruses.
In humans, the encoding gene for MSH3 is found on chromosome 5 at location 5q11-q12 upstream of the dihydrofolate reductase ( ... MSH3 is encoded by 222,341 base pairs and creates a protein consisting of 1137 amino acids. MSH3 is typically expressed at low ... 1-2 base pair insertion/deletion loops. This leads to a heightened rate of microsatellite instabilities and increased rates of ... While both proteins have redundant function in base-base repairs, MutSα typically effects base-base mispair repairs and also ...
Human genome: 3 billion base pairs) Proportion of heterochromatin to euchromatin: 3:7 Number of chromosomes: 19 Number of ... The depth of the sequencing was approximately 7.5 x (meaning that each base pair was sequenced on average 7.5 times). Genome ... 803,000 base pairs, 52 genes Chloroplast genome: 157,000 base pairs, 101 genes The sequence of P. trichocarpa is that of an ... It can reach suitable size for pulp production in 10-15 years and about 25 years for timber production. Native American tribes ...
The chromosome of strain KIM is 4,600,755 base pairs long; the chromosome of strain CO92 is 4,653,728 base pairs long. Like Y. ... In humans and other susceptible hostsEdit. Pathogenesis due to Y. pestis infection of mammalian hosts is due to several factors ... Among them sR035 predicted to pair with SD region and transcription initiation site of a thermo-sensitive regulator ymoA, and ... DNA evidence indicates Y. pestis infected humans 5,000 years ago in Bronze Age Eurasia,[47] but genetic changes that made it ...
The human RUFY2 gene is located on the long (q) arm of chromosome 10 at region 21 band 3, from base pair 70,100,864 to base ... There are 18 predicted exons in the human gene with 13 alternative transcripts. 8,180 base pairs upstream of RUFY2 is the ... pair 70,167,051 on the reverse strand (Build GRCh37/hg19) (map). The gene produces a 2,080 base pair mRNA. ... While 6,770 base pairs downstream from RUFY2 is a DNA2 conserved helicase/nuclease involved in the maintenance of mitochondrial ...
In other eukaryotes, including humans, the base pair sequences at the replication origins vary. Despite this sequence variation ... "Base-stacking and base-pairing contributions into thermal stability of the DNA double helix". Nucleic Acids Research. 34 (2): ... In humans an origin of replication has been originally identified near the Lamin B2 gene on chromosome 19 and the ORC binding ... In humans, they are called oriH and oriL for the heavy and light strand of the DNA, each being the origin of replication for ...
G-banding ideogram of human chromosome 16 in resolution 850 bphs. Band length in this diagram is proportional to base-pair ... Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... LYPLA3: encoding enzyme Group XV phospholipase A2. *MC1R: melanocortin 1 receptor. *MCOPCT1: Microphthalmia with cataract 1 ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ...
... is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 63 million base pairs (the building ... G-banding ideogram of human chromosome 20 in resolution 850 bphs. Band length in this diagram is proportional to base-pair ... See also: Category:Genes on human chromosome 20.. The following is a partial list of genes on human chromosome 20. For complete ... G-bands of human chromosome 20 in resolution 850 bphs[19] Chr. Arm[20] Band[21] ISCN. start[22] ISCN. stop[22] Basepair. start ...
The gene product is a 6,657 base pair mRNA with 41 predicted exons in the human gene. Ensembl predicts ten alternative splice ... The predicted promoter region spans 1002 base pairs from 98,611,892 through 98,612,893 on the minus strand of chromosome 2. The ... The first spans 216 base pairs from 98,612,501 through 98,612,716. The second spans 182 base pairs from 98,612,262 through ... The human form has 1883 amino acid residues, with an isoelectric point of 8.74 and a molecular mass of 205,100 Daltons. It has ...
may be used for base pairs. The centimorgan is also often used to imply distance along a chromosome, but the number of base ... In the Human genome, the centimorgan is about 1 million base pairs. List of Y-DNA single-nucleotide polymorphisms Non-canonical ... kb (= kbp) = kilo base pairs = 1,000 bp Mb (= Mbp) = mega base pairs = 1,000,000 bp Gb = giga base pairs = 1,000,000,000 bp. ... The GU pairing, with two hydrogen bonds, does occur fairly often in RNA (see wobble base pair). Paired DNA and RNA molecules ...
... deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit". Human Genetics. 88 (6): 649-52. doi:10.1007/ ... which range from 61 to 174 base pairs, and introns, whose sizes range from 600 base pairs to 5.7 kilobase pairs. The splice ... Brown RM, Dahl HH, Brown GK (Feb 1989). "X-chromosome localization of the functional gene for the E1 alpha subunit of the human ... "Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit". Human Molecular Genetics. ...
The team has synthesized a 1.08 million base pair chromosome of a modified Mycoplasma mycoides. The synthetic cell is called: ... These cassettes were designed in a way that the end of each DNA cassette overlapped by 80 base pairs. The whole assembled ... It is a human urogenital pathogen which has the smallest genome of size 580 kb and it consists of only 482 protein-coding genes ... A total of 1,078 cassettes all 1,080 base pair long were built. ... possibly become the very first life form created by humans. It ...
... is located on the X chromosome at Xq13.1. It is 3912 base pairs long and the gene sequence has 6 exons. CXorf49 has one ... The promoter region of CXorf49 is located between base pair 71718051 and 71718785 on the minus strand of the X chromosome and ... "CXorf49 chromosome X open reading frame 49 [Homo sapiens (human)] - Gene - NCBI". Ncbi.nlm.nih.gov. Retrieved 2016-04-28. "Gene ... CXorf49 is a protein, which in humans is encoded by the gene chromosome X open reading frame 49(CXorf49). The CXorf49 gene has ...
G-banding ideogram of human chromosome 3 in resolution 850 bphs. Band length in this diagram is proportional to base-pair ... Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 ... See also: Category:Genes on human chromosome 3.. The following is a partial list of genes on human chromosome 3. For complete ... G-bands of human chromosome 3 in resolution 850 bphs[4] Chr. Arm[17] Band[18] ISCN. start[19] ISCN. stop[19] Basepair. start ...
The first published description of the use of paired ends was in 1990[6] as part of the sequencing of the human HGPRT locus, ... to 7000-base-pair) genomes had been suggested already in 1979.[1] ... Bacterial artificial chromosomes) followed by sequencing of the ... For example, a hypothetical genome with 2,000 base pairs reconstructed from 8 reads with an average length of 500 nucleotides ... For example, to complete the Human Genome Project, most of the human genome was sequenced at 12X or greater coverage; that is, ...
If the mutated base pair is in the promoter sequence of a gene, then the expression of the gene may change. Also, if the ... In Neurospora crassa, repeat sequences of at least 400 base pairs in length are vulnerable to RIP. Repeats with as low as 80% ... The β-globin gene is found on the short arm of chromosome 11. The association of two wild-type α-globin subunits with two ... There are three kinds of cones in the human eye: red, green, and blue. Now researchers have discovered that some people with ...
This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. The promoter sequence overlaps with the 5 ... Transcripts a, b, and c have a 744 base pair long coding range and a particularly long 3' UTR that is 6000 base pairs long. In ... In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. The genomic range is 41937502- ... There is an experimentally determined acetylation point is at alanine, amino acid residue 2 in humans. Human TMEM33 has ...
The human gene product is a 1858 base pair mRNA with 4 predicted exons in humans. Promoter analysis was performed using El ... The predicted promoter region spans 1040 base pairs from position 3595468 through 3595468 on the forward strand of chromosome 5 ... and IRX4 are found on human chromosome 5, and their orientation corresponds to that of IRX3, IRX5, and IRX6 found on human ... "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ...
G-banding ideogram of human chromosome 1 in resolution 850 bphs. Band length in this diagram is proportional to base-pair ... sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA.[ ... Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ... See also: Category:Genes on human chromosome 1.. The following is a partial list of genes on human chromosome 1. For complete ...
miR16 has been shown to bind to a nine base pair to a complementary sequence in the 3' UTR region of BCL2, which is an anti- ... miR-16 and miR-15a are clustered within a 0.5 kbp region in Chromosome 13 (13q14) in humans, a chromosomal region shown to be ... Lewis BP, Burge CB, Bartel DP (2005). "Conserved seed pairing, often flanked by adenosines, indicates that thousands of human ... Calin and colleagues proposed that miR16 could be the targets with imperfect base pairing for 14 genes. Increased CD5+ B- ...
An SGM Plus profile consists of a list of 10 number pairs, one number pair for each of 10 genetic markers, along with two ... A non-standard repeat is designated by the number of complete repeat units and the number of base pairs of the partial repeat, ... The Human Genetics Commission has reported that the random match probability is in the region of 1 in a trillion. However it ... For example, D21S11 is on chromosome 21. SGM Plus also uses the Amelogenin (Amelo) sex-indicating test. SGM Plus differs from ...
The consensus transposon has IRs of 231 base pairs. The innermost DRs are 29 base pairs long whereas the outermost DRs are 31 ... As do all other Tc1/mariner-type transposases, SB transposase inserts a transposon into a TA dinucleotide base pair in a ... As in humans, where about 20,000 inactivated Tc1/mariner-type transposons comprise almost 3% of the human genome, the ... The insertion site can be elsewhere in the same DNA molecule, or in another DNA molecule (or chromosome). In mammalian genomes ...
Hypoxanthine can bind to cytosine, and when the XC base pair is replicated, it becomes a GC (thus, an A → G base change). In ... The inverted repeats vary wildly in length, ranging from 4,000 to 25,000 base pairs long each and containing as few as four or ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... Nair, Sethu C.; Striepen, Boris (2011). "What Do Human Parasites Do with a Chloroplast Anyway?". PLoS Biology. 9 (8): e1001137 ...
Aliases for LSMEM1 include C7orf53, chromosome 7 open reading frame 53, and FLJ39575. The human mRNA is 1686 base pairs long ... It also shows expression in both the fetal and adult stages of life in humans. LSMEM1 is predicted to have a 615 base pair ... In humans, LSMEM1 is located on chromosome 7q31.1. LSMEM1 neighbors the gene IFRD1 in humans. ... In humans, LSMEM1 is very highly expressed in skeletal muscle. In humans, LSMEM1 also shows high expression in nerve tissue, ...
The gene is 21,129 base pairs long and extends from base pair 36315757 to 36336977. The gene produces a single transcript that ... "C6orf222 chromosome 6 open reading frame 222 [ Homo sapiens (human) ]". NCBI. Retrieved 23 January 2015. NCBI BLAST. "NP_ ... PNPLA1 extends from base pairs 36239766 to 36313955. ETV7 is found downstream on the negative strand and extends from base ... is 3,750 base pairs long. There is a unique upstream, in-frame stop codon in the 5'UTR region from base pairs 86-88 of the mRNA ...
Hypoxanthine can bind to cytosine, and when the XC base pair is replicated, it becomes a GC (thus, an A → G base change). In ... Inverted repeats in plants tend to be at the upper end of this range, each being 20,000-25,000 base pairs long. The inverted ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA). Among land plants, the contents of the chloroplast genome are fairly similar-they code for four ribosomal ...
The chromosomes of a cell are in the cell nucleus. They carry the genetic information. Chromosomes are made up of DNA and protein combined as chromatin. Each chromosome contains many genes. Chromosomes come in pairs: one set from the mother; the other set from the father. Cytologists label chromosomes with numbers.[1]. Chromosomes are present in every cell nucleus with very few and special exceptions. This means they are found in all eukaryotes, since only eukaryotes have cell nuclei. When eukaryote cells divide, the chromosomes also divide. When a somatic (body) cell (such as a muscle cell) divides, the process is called mitosis. Before mitosis, the cell copies all the chromosomes and then it can divide. When they duplicate, chromosomes look like the letter "X". When they are doubled, the two halves are called chromatids (see diagram). The ...
The chromosomes of a cell are in the cell nucleus. They carry the genetic information. Chromosomes are made up of DNA and protein combined as chromatin. Each chromosome contains many genes. Chromosomes come in pairs: one set from the mother; the other set from the father. Cytologists label chromosomes with numbers.[1] Chromosomes are present in every cell nucleus with very few and special exceptions. This means they are found in all eukaryotes, since only eukaryotes have cell nuclei. When eukaryote cells divide, the chromosomes also divide. When a somatic (body) cell (such as a muscle cell) divides, the process is called mitosis. Before mitosis, the cell copies all the chromosomes and then it can divide. When they duplicate, chromosomes look like the letter "X". When they are doubled, the two halves are called chromatids (see diagram). The ...
A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. That is, instead of 46 chromosomes, the cell could have 47 with the 47th being very small, roughly 6-10 megabases (Mb) in size instead of 50-250 Mb for natural chromosomes, and able to carry new genes introduced by human researchers. Ideally, researchers could integrate different genes that perform a variety of functions, including disease defense. Alternative methods of creating transgenes, such as utilizing yeast artificial chromosomes and bacterial artificial chromosomes, lead to unpredictable problems. The genetic material introduced by these vectors not only leads to different expression levels, but the inserts also disrupt the original genome. HACs differ in this regard, as they are entirely separate chromosomes. This separation ...
... refers to the structure of sequences for eukaryotic chromosomes. Some fine sequences are included in more than one class, so the classification listed is not intended to be completely separate. Some sequences are required for a properly functioning chromosome: Centromere: Used during cell division as the attachment point for the spindle fibers. Telomere: Used to maintain chromosomal integrity by capping off the ends of the linear chromosomes. This region is a microsatellite, but its function is more specific than a simple tandem repeat. Throughout the eukaryotic kingdom, the overall structure of chromosome ends is conserved and is characterized by the telomeric tract - a series of short G-rich repeats. This is succeeded by an extensive subtelomeric region consisting of various types and lengths of repeats - the telomere associated sequences (TAS). These regions are generally low in gene density, low in transcription, low in recombination, late replicating, ...
A microchromosome is a type of very small chromosome which is a typical component of the karyotype of birds, some reptiles, fish, and amphibians; they tend to be absent in mammals. They are less than 20 Mb in size; chromosomes which are greater than 40 Mb in size are known as macrochromosomes, while those between 20 and 40 Mb are classified as intermediate chromosomes. Microchromosomes are characteristically very small and often cytogenetically indistinguishable in a karyotype. While originally thought to be insignificant fragments of chromosomes, in species where they have been studied they have been found to be rich in genes. In chickens, microchromosomes have been estimated to contain between 50 and 75% of all genes. The presence of microchromosomes makes ordering and identifying chromosomes into a coherent karyotype particularly difficult. During metaphase, they appear ...
There are 890 known diseases related to this chromosome.[citation needed] Some of these diseases are hearing loss, Alzheimer's disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth.[14] Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception.[14] Some partial deletions and partial duplications produce birth defects. The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome): ...
The X chromosome is ane o the twa sex-determinin chromosomes (allosomes) in mony organisms, includin mammals (the ither is the Y chromosome), an is foind in bauth males an females. It is a pairt o the XY sex-determination seestem an X0 sex-determination seestem. The X chromosome wis named for its unique properties bi early researchers, that resultit in the namin o its coonterpairt Y chromosome, for the next letter in the alphabet, efter it wis diskivered later.[5] ...
The DNA content of a cell is duplicated at the start of the cell reproduction process. Prior to DNA replication, the DNA content of a cell can be represented as the amount Z (the cell has Z chromosomes). After the DNA replication process, the amount of DNA in the cell is 2Z (multiplication: 2 x Z = 2Z). During Binary fission and mitosis the duplicated DNA content of the reproducing parental cell is separated into two equal halves that are destined to end up in the two daughter cells. The final part of the cell reproduction process is cell division, when daughter cells physically split apart from a parental cell. During meiosis, there are two cell division steps that together produce the four daughter cells. Immediately after DNA replication a human cell will have 46 "double chromosomes". In each double chromosome there are two copies of that chromosome's DNA molecule. During mitosis the double chromosomes are split to produce 92 "single ...
The following are some of the gene count estimates of human chromosome 16. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5]. ...
The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5] ...
The following are some of the gene count estimates of human chromosome 3. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5] ...
... (MEP) is a genetic programming variant encoding multiple solutions in the same chromosome. MEP representation is not specific (multiple representations have been tested). In the simplest variant, MEP chromosomes are linear strings of instructions. This representation was inspired by Three-address code. MEP strength consists in the ability to encode multiple solutions, of a problem, in the same chromosome. In this way one can explore larger zones of the search space. For most of the problems this advantage comes with no running-time penalty compared with genetic programming variants encoding a single solution in a chromosome.[1][2][3]. ...
ލައިޓް މައިކްރަސްކޯޕަކުން ބަލައިފިނަމަ ޕްލޭޓްލިޓްތައް ހުންނާނީ ވަށް ނުވަތަ ކުކުޅު ބިސް ބުރުގެ ބައްޓަމަށެވެ. ޕްލޭޓްލިޓް އުފެދިފައިވަނީ ސާފު ހުދުކުލައިގެ އަރިމަތީ ބަޔަކާއި، ކުލަ އެކުލެވޭ މެދު ބައެއްގެ މަައްޗަށެވެ. މިބުނި ސާފު ހުދުކުލައިގެ އަރިމަތީބަޔަށް ކިޔަނީހައިއަލޯމީރް(އިނގިރޭސި ބަހުން: Hyalomere) އެވެ.ކުލަ އެކުލެވޭ މެދުގައިވާ ބަޔަށް ކިޔަނީ ގްރެނިއޫލޯމީރް(އިނގިރޭސި ބަހުން: Granulomere)ނުވަތަ ކްރޯމަމީރް(އިނގިރޭސި ބަހުން: Chromomere) އެވެ. އިލެކްޓްރޯން މައިކްރޯސްކޯޕަކުން ބަލައިފިނަމަ ޕްލޭޓްލިޓްގެ ބޭރުފަށަލަ(އިނގިރޭސި ބަހުން: Cell membrane)ހުންނަނީ ...
... corresponding mouse region/gene is indicated by the same gene name and location in the mouse genome given by the mega-base pair ... In addition to certain MHC (or human leukocyte antigen (HLA) in humans) class-II alleles on human chromosome 6 that are most ... Depending on the volume of backcrossing (i.e., the number of breeding pairs and offspring) and the shortest chromosome interval ... Each human locus is listed by the gene-name and chromosome location using the "standard" name of the given RA risk allele; the ...
Chromosomes are drawn to scale on the basis of the length of each chromosome from the Human Genome Browser (www.ensembl.org/ ... A cytosine to thymine transition at base pair −159 in the promoter region has been associated with serum IgE levels and atopy. ... Nieminen MM, Kaprio J, Koskenvuo M. A population-based study of bronchial asthma in adult twin pairs. Chest.1991;100 (1):70- 75 ... Chromosomal map of human linkage to associated genes for asthma. The 95% confidence intervals of human quantitative trait loci ...
Because we had previously shown that telomeres, the terminal guanine-rich sequences of chromosomes, shorten throughout the life ... 10 doublings per kilobase pair; r = 0.76; P = 0.004), indicating that cell strains with shorter telomeres underwent ... Telomere length predicts replicative capacity of human fibroblasts. R C Allsopp, H Vaziri, C Patterson, S Goldstein, E V ... Telomere length predicts replicative capacity of human fibroblasts. R C Allsopp, H Vaziri, C Patterson, S Goldstein, E V ...
For example, the DQ α chain of each haplotype can pair with the DQ β chain from the same haplotype ("cis" pairing) or the ... The HLA locus maps to chromosome 6 in humans-specifically to 6p21.3, where it is localized to a region of DNA approximately 3 ... The class II region encodes genes that cover approximately 1 million base pairs of the MHC (15). This region is divided into ... million base pairs (15). This region contains genes for the two major classes of HLA molecules (class I and class II); for the ...
... at the end of chromosomes, called telomeres. In human cells, telomeres are made up of an average of 5,000 to 15,000 base-pair ... Every time a cell divides, 50 to 100 base pairs are lost, and a cellular signal is eventually triggered to stop cell division. ... 133 This was discovered by mapping homozygous deletions on human chromosome 10q23 that occur at high frequency in human cancers ... An early observation of LOH in human cancer was by Solomon and colleagues,97 who showed that about 20%; of human colorectal ...
A adenine bp base pair C cytosine G guanine IF an M13 clone containing a 921 bp EcoR1-Bg1II human β1 interferon fragment kD ... One hundred base pairs of a known portion of a human β-interferon genes prepared by PCR i.e. the 100 bp target sequence, was ... Kohara et al., "The Physical Map of the Whole E. coli Chromosome: Application of a New Strategy for Rapid Analysis and Sorting ... "Dissociation kinetics of 19 base paired oligonucleotide-DNA duplexes containing different single mismatched base pairs," ...
... chromosome may contain as many as one million nucleotide base pairs and four thousand genes. What is most important about these ... The four bases always form a rung in pairs, and they always pair up the same way. Scientists know that A always pairs with T ... Fifteen-year federal project The human genome is the word used to describe the complete collection of genes found in a single ... the human chromosome. Humans have forty-six chromosomes, which are coiled structures in the nucleus of a cell that carry DNA. ...
Learn how DNA molecules are composed of four different types of nucleotides that pair with... ... Human Genetics: Multifactorial Traits & Model Organisms 8:13 * Complementary Base Pairing: Definition & Explanation 8:18 ... Genetics: Heredity, Traits & Chromosomes 6:56 * Properties of Alleles 5:21 * Mendels First Law & Its Application 6:48 ... This is what we call complementary base pairing. Complementary base pairing explains Chargaffs findings. Since adenine always ...
We built an online knowledge base TADKB integrating knowledge for TADs in eleven cell types of human and mouse. For each TAD, ... TADKB provides the predicted three-dimensional (3D) structures of chromosomes and TADs, and detailed annotations about the ... Users can also browse the two dynamic Hi-C heatmaps side by side for TAD pairs in acrossCells by clicking the chromosome column ... Based on the bead-pair specific wish distances, we reconstructed the 3D structures of chromosomes and TADs at the 40 kb ...
The chromosome of strain KIM is 4,600,755 base pairs long; the chromosome of strain CO92 is 4,653,728 base pairs long. Like Y. ... In humans and other susceptible hostsEdit. Pathogenesis due to Y. pestis infection of mammalian hosts is due to several factors ... Among them sR035 predicted to pair with SD region and transcription initiation site of a thermo-sensitive regulator ymoA, and ... DNA evidence indicates Y. pestis infected humans 5,000 years ago in Bronze Age Eurasia,[47] but genetic changes that made it ...
... that are located within an 800-base pair region of human chromosome 13. [score:1] ... We corroborate to this observation since the miR-19a/-19b and miR-18a/-18b pairs scored high in terms of synergy (2 [nd] and 7 ... The human chromosome 13 MIR17HG cluster (800bp) encodes six tightly grouped miRNAs with four distinct "seed" sequences 31, 50: ... A polycistronic microRNA cluster termed miR-17-92, located in chromosome 13 open reading frame 25 (C13orf25) in the human ...
Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our ... whereas males have one X and one Y Y Chromosome The human Y chromosome is composed of about 60 million base pairs. It´s only ... of the two sex-determining chromosomes in many animal species The X chromosome in humans spans more than 153 million base pairs ... Chromosome 2 is submetacentric. Both arms are covered with stripes Chromosomes 1,2,3 (two pairs each) GROUP B Chromosomes 4 and ...
... or in base-pairs ("GILbp"), and were normalized by subtracting the mean inter-CO distance for that chromosomes and multiplying ... Hot and cold windows differed in base pair composition and repeat content (Table S1). Hot windows tended to concentrate in sub- ... The value of that maximized the overall likelihood averaged 2.6 (range: 1.5-3.1) across all chromosomes (versus 4.5 in human [ ... 5. Results of genome-scan for QTL affecting the normalized distance between pairs of CO events measured in base-pairs (GILbp), ...
2004) Nucleosomes containing the histone variant H2A.Bbd organize only 118 base pairs of DNA. Embo J 23: 3314-3324. ... Článek Protein Phosphatase 4 Promotes Chromosome Pairing and Synapsis, and Contributes to Maintaining Crossover Competence with ... Článek Caudal Regulates the Spatiotemporal Dynamics of Pair-Rule Waves in Článek Its All in Your Mind: Determining Germ Cell ... In human, mouse, and fly, testes-specific variants of H1, H2A, H2B, and H3 displace canonical histones prior to incorporation ...
At each iteration of the program, a random pair of assemblies is selected and the pairs are joined together to form a larger ... 6), differing from it by three to five single base substitutions in addition to the single base change associated with the am3 ... φX174 presents no known hazard because it infects only certain enteric bacteria and is not a human, plant, or animal pathogen. ... This slow process would not be practical for synthesizing a 300,000-bp chromosome. We have now improved the methodology for ...
... time we had used pedigree/marker analysis to localize the mutation to a fifteen million base pair segment of canine chromosome ... Since then we have narrowed the target region to eleven million base pairs containing 41 genes. Thus, we have narrowed the ... Mutations in human PARK2 cause a recessive neurodegenerative disease that resembles CMSD. Three types of mutations in PARK2 ... chromosome containing the mutant PNA gene and narrowed the search to a twenty million base pair segment of that chromosome ...
The 18 base pair recognition sequence does not exist normally in the human genome. Expression of I-Sce1 endonuclease will ... were analyzed for BLAST human sequence and identified to be the human thymidine kinase gene located on chromosome 17. This ... We then went on to amplify a much bigger fragment of DNA (700 base pairs) to map and locate the I-Sce1 site within the Eco ... b) The 285 base pair PCR product shown in figure 4 was cleaved with 25 units of I-Sce1 enzyme. TK6 is a control cell line that ...
Chimps have an extra pair of chromosomes compared to humans; and hermit crabs have hundreds of chromosomes.. Molecular ... After accounting for transposable elements in the human genome (44%), the true size is 1.9 billion base pairs.. (Only a very ... size of the wheat genome is about 850 million base pairs. ([17b / 3] * .15). ... This is why men have evolved a small sex chromosome, because they are more evolved than women.. Most women are successful in ...
We present here an eQTL analysis based on cap analysis gene expression sequencing (CAGEseq) data created from human postmortem ... Single base pair promoters within 20 bp of each other were merged into one CAGE-cluster and raw counts were normalized dividing ... This is exemplified by the inflammatory bowel disease (IBD) locus on chromosome 2q25 associated with the rs2382817. Fifteen ... Paired-end sequence reads were aligned using Burrows-Wheeler Aligner (BWA) [25] against the human reference genome (hg19). The ...
... counting DNA base pairs that differ).. Even men and women are almost the same, and 45 out of 46 chromosomes are the same. And ... no human has my fingerprints.I am unique.So yes i am not the same as you people.Anyone the same as me????? Come on Caringheart, ... 49:13 (Y. Ali) O mankind! We created you from a single (pair) of a male and a female, and made you into nations and tribes, ... Spiritually every human has a special different rank with Allah, and He only knows the secrets of that. If you talk about ...
In humans, heterozygosity for a single-base-pair insertion causing a premature stop codon in the aggrecan gene induces ... Whole-genome association studies of normal variation in human height have implicated the ACAN region on chromosome 15 as a ... we used the Agilent SureSelect Target Enrichment protocol for the Illumina paired-end sequencing library (version B.3, June ... Loss-of-function mutations in the aggrecan gene have been reported in humans, mice, cattle, and chickens (Vertel et al., 1994 ...
For instance, the largest human chromosome, chromosome number 1, is 220 million base pairs long.[17] ... The GC base pair is therefore stronger than the AT base pair. As a result, it is both the percentage of GC base pairs and the ... The set of chromosomes in a cell makes up its genome. The human genome has approximately 3 billion base pairs of DNA arranged ... At top, a GC base pair with three hydrogen bonds. At the bottom, AT base pair with two hydrogen bonds. Hydrogen bonds are shown ...
... in the human genome that signal a little-explored type of genetic difference among individuals. INDELS are an alternative form ... Both types of variation are likely to have a major impact on human health and susceptibility to disease. ... insertions or deletions of single base pairs; (2) expansions by only one base pair (monomeric base pair expansions); (3) multi- ... strung together in different combinations in long chains within 23 pairs of chromosomes. When the first human genome was being ...
... a previously reported single base pair substitution, and a two-base deletion. All these variants segregate with the disease ... A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 ... PCR was performed in a 5 μl mixture containing 40 ng of genomic DNA, 0.5 μl of 10 μM fluorescent-labeled primer pairs, 0.5 μl ... Subsequent Sanger sequencing identified the single base pair substitution in exon14, c.1466A,G (p.K489R), in four families. ...
An open reading frame of 1032 base pairs, corresponding to 344 amino acid residues, is predicted. The predicted protein shares ... In addition, we have localized AIM2 to the long arm of human chromosome 1 (band q22) in a highly conserved region which also ... In addition, we have localized AIM2 to the long arm of human chromosome 1 (band q22) in a highly conserved region which also ... In addition, we have localized AIM2 to the long arm of human chromosome 1 (band q22) in a highly conserved region which also ...
  • The injunction issued by a district court judge in Columbia against such funding stems from a case brought not by Christian 'pro-life' groups, who object to the destruction of human embryos in harvesting new stem-cell lines, but by two stem-cell scientists. (blogspot.com)
  • Scientists now know that humans share about 97-99 percent of the genetic code, and the remaining 1-3 percent dictates individual differences. (eurekalert.org)
  • For example, cystic fibrosis is frequently caused by a three-base-pair deletion in the CFTR gene, and DNA insertions called triplet repeat expansions are implicated in fragile X syndrome and Huntington's disease. (eurekalert.org)
  • To date, over 30 non-MHC RA-associated loci have been identified in humans, and over 100 arthritis-associated loci have been identified in rodent models of RA. (hindawi.com)
  • Most of them are based on the finding that the Hi-C contacts within a TAD are apparently more frequent and enriched than those between two different domains [ 1 ], which is the fundamental rule for defining domain locations in mammalian chromosomes. (biomedcentral.com)
  • It is required for proper bivalent alignment on the metaphase I plate preceding disjunction and segregation at anaphase I. Correct segregation of the full chromosome complement demands tight, sex-specific control of the number of cross-overs (CO) per arm, as well as of their position relative to chromosomal landmarks (centromeres and telomeres) and other CO (in the case of multichiasmatic meioses) , . (prolekare.cz)
  • The next phase of this work is to figure out which changes correspond to changes in human health and develop personalized health treatments. (eurekalert.org)
  • Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected. (prezi.com)
  • We created you from a single (pair) of a male and a female, and made you into nations and tribes, that ye may know each other (not that ye may despise (each other). (islamicity.com)
  • In a similar way to which only the correct two shoes will form a working pair (you don't want two left shoes or a black and a brown one! (study.com)