Proteins found in any species of archaeon.
Ribonucleic acid in archaea having regulatory and catalytic roles as well as involvement in protein synthesis.
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)
Deoxyribonucleic acid that makes up the genetic material of archaea.
Any method used for determining the location of and relative distances between genes on a chromosome.
The functional genetic units of ARCHAEA.
The genetic complement of an archaeal organism (ARCHAEA) as represented in its DNA.
One of the three domains of life (the others being BACTERIA and Eukarya), formerly called Archaebacteria under the taxon Bacteria, but now considered separate and distinct. They are characterized by: (1) the presence of characteristic tRNAs and ribosomal RNAs; (2) the absence of peptidoglycan cell walls; (3) the presence of ether-linked lipids built from branched-chain subunits; and (4) their occurrence in unusual habitats. While archaea resemble bacteria in morphology and genomic organization, they resemble eukarya in their method of genomic replication. The domain contains at least four kingdoms: CRENARCHAEOTA; EURYARCHAEOTA; NANOARCHAEOTA; and KORARCHAEOTA.
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.
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.
Viruses whose hosts are in the domain ARCHAEA.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
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)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in archaea.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
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.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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)
A genus of aerobic, chemolithotrophic, coccoid ARCHAEA whose organisms are thermoacidophilic. Its cells are highly irregular in shape, often lobed, but occasionally spherical. It has worldwide distribution with organisms isolated from hot acidic soils and water. Sulfur is used as an energy source.
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.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A family of anaerobic, coccoid to rod-shaped METHANOBACTERIALES. Cell membranes are composed mainly of polyisoprenoid hydrocarbons ether-linked to glycerol. Its organisms are found in anaerobic habitats throughout nature.
Mapping of the KARYOTYPE of a cell.
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.
An order of anaerobic methanogens in the kingdom EURYARCHAEOTA. They are pseudosarcina, coccoid or sheathed rod-shaped and catabolize methyl groups. The cell wall is composed of protein. The order includes one family, METHANOCOCCACEAE. (From Bergey's Manual of Systemic Bacteriology, 1989)
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A kingdom in the domain ARCHAEA comprised of thermoacidophilic, sulfur-dependent organisms. The two orders are SULFOLOBALES and THERMOPROTEALES.
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.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
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.
A genus of anaerobic coccoid METHANOCOCCACEAE whose organisms are motile by means of polar tufts of flagella. These methanogens are found in salt marshes, marine and estuarine sediments, and the intestinal tract of animals.
The relationships of groups of organisms as reflected by their genetic makeup.
Aberrant chromosomes with no ends, i.e., circular.
A species of thermoacidophilic ARCHAEA in the family Sulfolobaceae, found in volcanic areas where the temperature is about 80 degrees C and SULFUR is present.
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.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
A species of halophilic archaea found in the Dead Sea.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
A species of strictly anaerobic, hyperthermophilic archaea which lives in geothermally-heated marine sediments. It exhibits heterotropic growth by fermentation or sulfur respiration.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The large subunit of the archaeal 70s ribosome. It is composed of the 23S RIBOSOMAL RNA, the 5S RIBOSOMAL RNA, and about 40 different RIBOSOMAL PROTEINS.
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.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
A species of gram-negative hyperthermophilic ARCHAEA found in deep ocean hydrothermal vents. It is an obligate anaerobe and obligate chemoorganotroph.
Structures within the CELL NUCLEUS of insect cells containing DNA.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
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.
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.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The 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).
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
A 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.
A species of extremely thermophilic, sulfur-reducing archaea. It grows at a maximum temperature of 95 degrees C. in marine or deep-sea geothermal areas.
A genus of anaerobic, irregular spheroid-shaped METHANOSARCINALES whose organisms are nonmotile. Endospores are not formed. These archaea derive energy via formation of methane from acetate, methanol, mono-, di-, and trimethylamine, and possibly, carbon monoxide. Organisms are isolated from freshwater and marine environments.
A species of aerobic, chemolithotrophic ARCHAEA consisting of coccoid cells that utilize sulfur as an energy source. The optimum temperature for growth is 70-75 degrees C. They are isolated from acidic fields.
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.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
Anaerobic hyperthermophilic species of ARCHAEA, isolated from hydrothermal fluid samples. It is obligately heterotrophic with coccoid cells that require TRYPTOPHAN for growth.
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.
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.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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).
One of the three domains of life (the others being Eukarya and ARCHAEA), also called Eubacteria. They are unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. Bacteria can be classified by their response to OXYGEN: aerobic, anaerobic, or facultatively anaerobic; by the mode by which they obtain their energy: chemotrophy (via chemical reaction) or PHOTOTROPHY (via light reaction); for chemotrophs by their source of chemical energy: CHEMOLITHOTROPHY (from inorganic compounds) or chemoorganotrophy (from organic compounds); and by their source for CARBON; NITROGEN; etc.; HETEROTROPHY (from organic sources) or AUTOTROPHY (from CARBON DIOXIDE). They can also be classified by whether or not they stain (based on the structure of their CELL WALLS) with CRYSTAL VIOLET dye: gram-negative or gram-positive.
A genus of facultatively anaerobic coccoid ARCHAEA, in the family SULFOLOBACEAE. Cells are highly irregular in shape and thermoacidophilic. Lithotrophic growth occurs aerobically via sulfur oxidation in some species. Distribution includes solfataric springs and fields, mudholes, and geothermically heated acidic marine environments.
The simplest saturated hydrocarbon. It is a colorless, flammable gas, slightly soluble in water. It is one of the chief constituents of natural gas and is formed in the decomposition of organic matter. (Grant & Hackh's Chemical Dictionary, 5th ed)
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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.
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.
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.
A kingdom of hyperthermophilic ARCHAEA found in diverse environments.
A phylum of ARCHAEA comprising at least seven classes: Methanobacteria, Methanococci, Halobacteria (extreme halophiles), Archaeoglobi (sulfate-reducing species), Methanopyri, and the thermophiles: Thermoplasmata, and Thermococci.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Constituent of 30S subunit prokaryotic ribosomes containing 1600 nucleotides and 21 proteins. 16S rRNA is involved in initiation of polypeptide synthesis.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
A genus of strictly anaerobic ultrathermophilic archaea, in the family THERMOCOCCACEAE, occurring in heated seawaters. They exhibit heterotrophic growth at an optimum temperature of 100 degrees C.
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.
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.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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)
DNA sequences encoding RIBOSOMAL RNA and the segments of DNA separating the individual ribosomal RNA genes, referred to as RIBOSOMAL SPACER DNA.
A genus of facultatively anaerobic heterotrophic archaea, in the order THERMOPLASMALES, isolated from self-heating coal refuse piles and acid hot springs. They are thermophilic and can grow both with and without sulfur.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Compounds in which one or more of the three hydroxyl groups of glycerol are in ethereal linkage with a saturated or unsaturated aliphatic alcohol; one or two of the hydroxyl groups of glycerol may be esterified. These compounds have been found in various animal tissue.
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.
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.
The process by which a DNA molecule is duplicated.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
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.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.
A family of THERMOPROTEALES consisting of variable length rigid rods without septa. They grow either chemolithoautotrophically or by sulfur respiration. The four genera are: PYROBACULUM; THERMOPROTEUS; Caldivirga; and Thermocladium. (From Bergey's Manual of Systematic Bacteriology, 2d ed)
A mass of organic or inorganic solid fragmented material, or the solid fragment itself, that comes from the weathering of rock and is carried by, suspended in, or dropped by air, water, or ice. It refers also to a mass that is accumulated by any other natural agent and that forms in layers on the earth's surface, such as sand, gravel, silt, mud, fill, or loess. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1689)
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.
Genetic loci associated with a QUANTITATIVE TRAIT.
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.
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).
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.
A genus of anaerobic, rod-shaped METHANOBACTERIACEAE. Its organisms are nonmotile and use ammonia as the sole source of nitrogen. These methanogens are found in aquatic sediments, soil, sewage, and the gastrointestinal tract of animals.
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.
An aberration in which an extra chromosome or a chromosomal segment is made.
Genotypic differences observed among individuals in a population.
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.
The genetic complement of a BACTERIA as represented in its DNA.
Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane.
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.
An order of anaerobic methanogens in the kingdom EURYARCHAEOTA. There are two families: METHANOSARCINACEAE and Methanosaetaceae.
The functional hereditary units of BACTERIA.
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.
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.
An order of anaerobic, coccoid to rod-shaped methanogens, in the kingdom EURYARCHAEOTA. They are nonmotile, do not catabolize carbohydrates, proteinaceous material, or organic compounds other than formate or carbon monoxide, and are widely distributed in nature.
Proteins found in any species of bacterium.
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.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The small subunit of archaeal RIBOSOMES. It is composed of the 16S RIBOSOMAL RNA and about 28 different RIBOSOMAL PROTEINS.
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)
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.
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.
An individual having different alleles at one or more loci regarding a specific character.
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.
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.
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.
A family of archaea, in the order DESULFUROCOCCALES, consisting of anaerobic cocci which utilize peptides, proteins or carbohydrates facultatively by sulfur respiration or fermentation. There are eight genera: AEROPYRUM, Desulfurococcus, Ignicoccus, Staphylothermus, Stetteria, Sulfophoboccus, Thermodiscus, and Thermosphaera. (From Bergey's Manual of Systematic Bacteriology, 2d ed)
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
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.
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.
The salinated water of OCEANS AND SEAS that provides habitat for marine organisms.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
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.
The study of crystal structure using X-RAY DIFFRACTION techniques. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A process facilitated by specialized bacteria involving the oxidation of ammonium to nitrite and nitrate.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
A family of anaerobic METHANOCOCCALES whose organisms are motile by means of flagella. These methanogens use carbon dioxide as an electron acceptor.
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.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
An order of CRENARCHAEOTA consisting of aerobic or facultatively aerobic, chemolithotrophic cocci which are extreme thermoacidophiles. They lack peptidoglycan in their cell walls.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
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.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
A kingdom in the domain ARCHAEA, comprising thermophilic organisms from terrestrial hot springs that are among the most primitive of all life forms. They have undergone comparatively little evolutionary change since the last common ancestor of all extant life.
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The variety of all native living organisms and their various forms and interrelationships.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
The 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.

Nucleoid structure and partition in Methanococcus jannaschii: an archaeon with multiple copies of the chromosome. (1/63)

We measured different cellular parameters in the methanogenic archaeon Methanococcus jannaschii. In exponential growth phase, the cells contained multiple chromosomes and displayed a broad variation in size and DNA content. In most cells, the nucleoids were organized into a thread-like network, although less complex structures also were observed. During entry into stationary phase, chromosome replication continued to termination while no new rounds were initiated: the cells ended up with one to five chromosomes per cell with no apparent preference for any given DNA content. Most cells in stationary phase contained more than one genome equivalent. Asymmetric divisions were detected in stationary phase, and the nucleoids were found to be significantly more compact than in exponential phase.  (+info)

Changes in cell size and DNA content in Sulfolobus cultures during dilution and temperature shift experiments. (2/63)

Stationary-phase cultures of different hyperthermophilic species of the archaeal genus Sulfolobus were diluted into fresh growth medium and analyzed by flow cytometry and phase-fluorescence microscopy. After dilution, cellular growth started rapidly but no nucleoid partition, cell division, or chromosome replication took place until the cells had been increasing in size for several hours. Initiation of chromosome replication required that the cells first go through partition and cell division, revealing a strong interdependence between these key cell cycle events. The time points at which nucleoid partition, division, and replication occurred after the dilution were used to estimate the relative lengths of the cell cycle periods. When exponentially growing cultures were diluted into fresh growth medium, there was an unexpected transient inhibition of growth and cell division, showing that the cultures did not maintain balanced growth. Furthermore, when cultures growing at 79 degrees C were shifted to room temperature or to ice-water baths, the cells were found to "freeze" in mid-growth. After a shift back to 79 degrees C, growth, replication, and division rapidly resumed and the mode and kinetics of the resumption differed depending upon the nature and length of the shifts. Dilution of stationary-phase cultures provides a simple protocol for the generation of partially synchronized populations that may be used to study cell cycle-specific events.  (+info)

Halophilic 20S proteasomes of the archaeon Haloferax volcanii: purification, characterization, and gene sequence analysis. (3/63)

A 20S proteasome, composed of alpha(1) and beta subunits arranged in a barrel-shaped structure of four stacked rings, was purified from a halophilic archaeon Haloferax volcanii. The predominant peptide-hydrolyzing activity of the 600-kDa alpha(1)beta-proteasome on synthetic substrates was cleavage carboxyl to hydrophobic residues (chymotrypsin-like [CL] activity) and was optimal at 2 M NaCl, pH 7.7 to 9.5, and 75 degrees C. The alpha(1)beta-proteasome also hydrolyzed insulin B-chain protein. Removal of NaCl inactivated the CL activity of the alpha(1)beta-proteasome and dissociated the complex into monomers. Rapid equilibration of the monomers into buffer containing 2 M NaCl facilitated their reassociation into fully active alpha(1)beta-proteasomes of 600 kDa. However, long-term incubation of the halophilic proteasome in the absence of salt resulted in hydrolysis and irreversible inactivation of the enzyme. Thus, the isolated proteasome has unusual salt requirements which distinguish it from any proteasome which has been described. Comparison of the beta-subunit protein sequence with the sequence deduced from the gene revealed that a 49-residue propeptide is removed to expose a highly conserved N-terminal threonine which is proposed to serve as the catalytic nucleophile and primary proton acceptor during peptide bond hydrolysis. Consistent with this mechanism, the known proteasome inhibitors carbobenzoxyl-leucinyl-leucinyl-leucinal-H (MG132) and N-acetyl-leucinyl-leucinyl-norleucinal (calpain inhibitor I) were found to inhibit the CL activity of the H. volcanii proteasome (K(i) = 0.2 and 8 microM, respectively). In addition to the genes encoding the alpha(1) and beta subunits, a gene encoding a second alpha-type proteasome protein (alpha(2)) was identified. All three genes coding for the proteasome subunits were mapped in the chromosome and found to be unlinked. Modification of the methods used to purify the alpha(1)beta-proteasome resulted in the copurification of the alpha(2) protein with the alpha(1) and beta subunits in nonstoichometric ratios as cylindrical particles of four stacked rings of 600 kDa with CL activity rates similar to the alpha(1)beta-proteasome, suggesting that at least two separate 20S proteasomes are synthesized. This study is the first description of a prokaryote which produces two separate 20S proteasomes and suggests that there may be distinct physiological roles for the two different alpha subunits in this halophilic archaeon.  (+info)

The single minichromosome maintenance protein of Methanobacterium thermoautotrophicum DeltaH contains DNA helicase activity. (4/63)

Previous studies have identified an ATP-dependent DNA helicase activity intrinsic to the human minichromosome maintenance (MCM) complex, composed of MCM subunits 4, 6, and 7 [Ishimi, Y. (1997) J. Biol. Chem. 272, 24508-24513]. In contrast to the presence of multiple MCM genes (at least six) in eukaryotes, the archaeon Methanobacterium thermoautotrophicum DeltaH (mth) genome contains a single open reading frame coding for an MCM protein. In this study we report the isolation of the mthMCM protein overexpressed in Escherichia coli. The purified recombinant protein was found to exist in both multimeric ( approximately 10(3) kDa) and monomeric (76 kDa) forms. Both forms of the protein bind to single-stranded DNA, hydrolyze ATP in the presence of DNA, and possess 3'-to-5' ATP-dependent DNA helicase activities. Thus, a single mthMCM protein contains biochemical properties identical to those associated with the eukaryotic MCM4, -6, and -7 complex. These results suggest that the characterization of the mthMCM protein and its multiple forms may contribute to our understanding of the role of MCM helicase activity in eukaryotic chromosomal DNA replication.  (+info)

Generation of dominant selectable markers for resistance to pseudomonic acid by cloning and mutagenesis of the ileS gene from the archaeon Methanosarcina barkeri fusaro. (5/63)

Currently, only one selectable marker is available for genetic studies in the archaeal genus Methanosarcina. Here we report the generation of selectable markers that encode resistance to pseudomonic acid (PA(r)) in Methanosarcina species by mutagenesis of the isoleucyl-tRNA synthetase gene (ileS) from Methanosarcina barkeri Fusaro. The M. barkeri ileS gene was obtained by screening of a genomic library for hybridization to a PCR fragment. The complete 3,787-bp DNA sequence surrounding and including the ileS gene was determined. As expected, M. barkeri IleS is phylogenetically related to other archaeal IleS proteins. The ileS gene was cloned into a Methanosarcina-Escherichia coli shuttle vector and mutagenized with hydroxylamine. Nine independent PA(r) clones were isolated after transformation of Methanosarcina acetivorans C2A with the mutagenized plasmids. Seven of these clones carry multiple changes from the wild-type sequence. Most mutations that confer PA(r) were shown to alter amino acid residues near the KMSKS consensus sequence of class I aminoacyl-tRNA synthetases. One particular mutation (G594E) was present in all but one of the PA(r) clones. The MIC of pseudomonic acid for M. acetivorans transformed with a plasmid carrying this single mutation is 70 microgram/ml of medium (for the wild type, the MIC is 12 microgram/ml). The highest MICs (560 microgram/ml) were observed with two triple mutants, A440V/A482T/G594E and A440V/G593D/G594E. Plasmid shuttle vectors and insertion cassettes that encode PA(r) based on the mutant ileS alleles are described. Finally, the implications of the specific mutations we isolated with respect to binding of pseudomonic acid by IleS are discussed.  (+info)

Bacterial mode of replication with eukaryotic-like machinery in a hyperthermophilic archaeon. (6/63)

Despite a rapid increase in the amount of available archaeal sequence information, little is known about the duplication of genetic material in the third domain of life. We identified a single origin of bidirectional replication in Pyrococcus abyssi by means of in silico analyses of cumulative oligomer skew and the identification of an early replicating chromosomal segment. The replication origin in three Pyrococcus species was found to be highly conserved, and several eukaryotic-like DNA replication genes were clustered around it. As in Bacteria, the chromosomal region containing the replication terminus was a hot spot of genome shuffling. Thus, although bacterial and archaeal replication proteins differ profoundly, they are used to replicate chromosomes in a similar manner in both prokaryotic domains.  (+info)

Genome evolution at the genus level: comparison of three complete genomes of hyperthermophilic archaea. (7/63)

We have compared three complete genomes of closely related hyperthermophilic species of Archaea belonging to the Pyrococcus genus: Pyrococcus abyssi, Pyrococcus horikoshii, and Pyrococcus furiosus. At the genomic level, the comparison reveals a differential conservation among four regions of the Pyrococcus chromosomes correlated with the location of genetic elements mediating DNA reorganization. This discloses the relative contribution of the major mechanisms that promote genomic plasticity in these Archaea, namely rearrangements linked to the replication terminus, insertion sequence-mediated recombinations, and DNA integration within tRNA genes. The combination of these mechanisms leads to a high level of genomic plasticity in these hyperthermophilic Archaea, at least comparable to the plasticity observed between closely related bacteria. At the proteomic level, the comparison of the three Pyrococcus species sheds light on specific selection pressures acting both on their coding capacities and evolutionary rates. Indeed, thanks to two independent methods, the "reciprocal best hits" approach and a new distance ratio analysis, we detect the false orthology relationships within the Pyrococcus lineage. This reveals a high amount of differential gains and losses of genes since the divergence of the three closely related species. The resulting polymorphism is probably linked to an adaptation of these free-living organisms to differential environmental constraints. As a corollary, we delineate the set of orthologous genes shared by the three species, that is, the genes that may characterize the Pyrococcus genus. In this conserved core, the amino acid substitution rate is equal between P. abyssi and P. horikoshii for most of their shared proteins, even for fast-evolving ones. In contrast, strong discrepancies exist among the substitution rates observed in P. furiosus relative to the two other species, which is in disagreement with the molecular clock hypothesis.  (+info)

In vivo interactions of archaeal Cdc6/Orc1 and minichromosome maintenance proteins with the replication origin. (8/63)

Although genome analyses have suggested parallels between archaeal and eukaryotic replication systems, little is known about the DNA replication mechanism in Archaea. By two-dimensional gel electrophoreses we positioned a replication origin (oriC) within 1 kb in the chromosomal DNA of Pyrococcus abyssi, an anaerobic hyperthermophile, and demonstrated that the oriC is physically linked to the cdc6 gene. Our chromatin immunoprecipitation assays indicated that P. abyssi Cdc6 and minichromosome maintenance (MCM) proteins bind preferentially to the oriC region in the exponentially growing cells. Whereas the oriC association of MCM was specifically inhibited by stopping DNA replication with puromycin treatment, Cdc6 protein stayed bound to the replication origin after de novo protein synthesis was inhibited. Our data suggest that archaeal and eukaryotic Cdc6 and MCM proteins function similarly in replication initiation and imply that an oriC association of MCM could be regulated by an unknown mechanism in Archaea.  (+info)

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

Some common effects of chromosomal deletions include:

1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.

Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.

There are many different types of chromosome disorders, including:

1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.

Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.

There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.

Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.

In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.

When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.

There are several types of chromosome breakage, including:

1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.

Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.

In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.

Ring chromosomes are relatively rare, occurring in about 1 in every 10,000 to 20,000 births. They can be caused by a variety of factors, including genetic mutations, errors during cell division, or exposure to certain chemicals or radiation.

Ring chromosomes can affect anyone, regardless of age or gender. However, they are more common in certain populations, such as people with a family history of the condition or those who have certain medical conditions like Down syndrome or Turner syndrome.

The symptoms of ring chromosomes can vary widely and may include:

* Delayed growth and development
* Intellectual disability or learning difficulties
* Speech and language problems
* Vision and hearing impairments
* Heart defects
* Bone and joint problems
* Increased risk of infections and other health problems

Ring chromosomes can be diagnosed through a variety of tests, including karyotyping, fluorescence in situ hybridization (FISH), and microarray analysis. Treatment for the condition typically focuses on managing any associated health problems and may include medication, surgery, or other interventions.

In some cases, ring chromosomes can be inherited from one's parents. However, many cases are not inherited and occur spontaneously due to a genetic mutation. In these cases, the risk of recurrence in future pregnancies is generally low.

Overall, ring chromosomes are a complex and relatively rare chromosomal abnormality that can have a significant impact on an individual's health and development. With proper diagnosis and treatment, many people with ring chromosomes can lead fulfilling lives, but it is important to work closely with medical professionals to manage any associated health problems.

Inversions are classified based on their location along the chromosome:

* Interstitial inversion: A segment of DNA is reversed within a larger gene or group of genes.
* Pericentric inversion: A segment of DNA is reversed near the centromere, the region of the chromosome where the sister chromatids are most closely attached.

Chromosome inversions can be detected through cytogenetic analysis, which allows visualization of the chromosomes and their structure. They can also be identified using molecular genetic techniques such as PCR (polymerase chain reaction) or array comparative genomic hybridization (aCGH).

Chromosome inversions are relatively rare in the general population, but they have been associated with various developmental disorders and an increased risk of certain diseases. For example, individuals with an inversion on chromosome 8p have an increased risk of developing cancer, while those with an inversion on chromosome 9q have a higher risk of developing neurological disorders.

Inversions can be inherited from one or both parents, and they can also occur spontaneously as a result of errors during DNA replication or repair. In some cases, inversions may be associated with other genetic abnormalities, such as translocations or deletions.

Overall, chromosome inversions are an important aspect of human genetics and can provide valuable insights into the mechanisms underlying developmental disorders and disease susceptibility.

https://www.medicinenet.com › Medical Dictionary › G

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...

Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.

Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.

There are several types of aneuploidy, including:

1. Trisomy: This is the presence of an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21 (trisomy 21).
2. Monosomy: This is the absence of a chromosome.
3. Mosaicism: This is the presence of both normal and abnormal cells in the body.
4. Uniparental disomy: This is the presence of two copies of a chromosome from one parent, rather than one copy each from both parents.

Aneuploidy can occur due to various factors such as errors during cell division, exposure to certain chemicals or radiation, or inheritance of an abnormal number of chromosomes from one's parents. The risk of aneuploidy increases with age, especially for women over the age of 35, as their eggs are more prone to errors during meiosis (the process by which egg cells are produced).

Aneuploidy can be diagnosed through various methods such as karyotyping (examining chromosomes under a microscope), fluorescence in situ hybridization (FISH) or quantitative PCR. Treatment for aneuploidy depends on the underlying cause and the specific health problems it has caused. In some cases, treatment may involve managing symptoms, while in others, it may involve correcting the genetic abnormality itself.

In summary, aneuploidy is a condition where there is an abnormal number of chromosomes present in a cell, which can lead to various developmental and health problems. It can occur due to various factors and can be diagnosed through different methods. Treatment depends on the underlying cause and the specific health problems it has caused.

Trisomy is caused by an extra copy of a chromosome, which can be due to one of three mechanisms:

1. Trisomy 21 (Down syndrome): This is the most common type of trisomy and occurs when there is an extra copy of chromosome 21. It is estimated to occur in about 1 in every 700 births.
2. Trisomy 13 (Patau syndrome): This type of trisomy occurs when there is an extra copy of chromosome 13. It is estimated to occur in about 1 in every 10,000 births.
3. Trisomy 18 (Edwards syndrome): This type of trisomy occurs when there is an extra copy of chromosome 18. It is estimated to occur in about 1 in every 2,500 births.

The symptoms of trisomy can vary depending on the type of trisomy and the severity of the condition. Some common symptoms include:

* Delayed physical growth and development
* Intellectual disability
* Distinctive facial features, such as a flat nose, small ears, and a wide, short face
* Heart defects
* Vision and hearing problems
* GI issues
* Increased risk of infection

Trisomy can be diagnosed before birth through prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis. After birth, it can be diagnosed through a blood test or by analyzing the child's DNA.

There is no cure for trisomy, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition. This may include physical therapy, speech therapy, occupational therapy, and medication to manage heart defects or other medical issues. In some cases, surgery may be necessary to correct physical abnormalities.

The prognosis for trisomy varies depending on the type of trisomy and the severity of the condition. Some forms of trisomy are more severe and can be life-threatening, while others may have a more mild impact on the individual's quality of life. With appropriate medical care and support, many individuals with trisomy can lead fulfilling lives.

In summary, trisomy is a genetic condition that occurs when there is an extra copy of a chromosome. It can cause a range of symptoms and can be diagnosed before or after birth. While there is no cure for trisomy, treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition.

There are several types of genetic nondisjunction, including:

1. Robertsonian translocation: This type of nondisjunction involves the exchange of genetic material between two chromosomes, resulting in a mixture of genetic information that can lead to developmental abnormalities.
2. Turner syndrome: This is a rare condition that occurs when one X chromosome is missing or partially present, leading to physical and developmental abnormalities in females.
3. Klinefelter syndrome: This condition occurs when an extra X chromosome is present, leading to physical and developmental abnormalities in males.
4. Trisomy 13: This condition occurs when there are three copies of chromosome 13, leading to severe developmental and physical abnormalities.
5. Trisomy 18: This condition occurs when there are three copies of chromosome 18, leading to severe developmental and physical abnormalities.

Genetic nondisjunction can be caused by various factors, including genetic mutations, errors during meiosis, or exposure to certain chemicals or radiation. It can be diagnosed through cytogenetic analysis, which involves studying the chromosomes of cells to identify any abnormalities.

Treatment for genetic nondisjunction depends on the specific type and severity of the condition. In some cases, no treatment is necessary, while in others, medication or surgery may be recommended. Prenatal testing can also be done to detect genetic nondisjunction before birth.

In summary, genetic nondisjunction is a chromosomal abnormality that occurs during meiosis and can lead to developmental and physical abnormalities. It can be caused by various factors and diagnosed through cytogenetic analysis. Treatment depends on the specific type and severity of the condition, and prenatal testing is available to detect genetic nondisjunction before birth.

Causes of Chromosomal Instability:

1. Genetic mutations: Mutations in genes that regulate the cell cycle or chromosome segregation can lead to CIN.
2. Environmental factors: Exposure to certain environmental agents such as radiation and certain chemicals can increase the risk of developing CIN.
3. Errors during DNA replication: Mistakes during DNA replication can also lead to CIN.

Types of Chromosomal Instability:

1. Aneuploidy: Cells with an abnormal number of chromosomes, either more or fewer than the normal diploid number (46 in humans).
2. Structural changes: Deletions, duplications, inversions, translocations, and other structural changes can occur in the chromosomes.
3. Unstable chromosome structures: Chromosomes with abnormal shapes or structures, such as telomere shortening, centromere instability, or chromosome breaks, can also lead to CIN.

Effects of Chromosomal Instability:

1. Cancer: CIN can increase the risk of developing cancer by disrupting normal cellular processes and leading to genetic mutations.
2. Aging: CIN can contribute to aging by shortening telomeres, which are the protective caps at the ends of chromosomes that help maintain their stability.
3. Neurodegenerative diseases: CIN has been implicated in the development of certain neurodegenerative diseases such as Alzheimer's and Parkinson's.
4. Infertility: CIN can lead to infertility by disrupting normal meiotic recombination and chromosome segregation during gametogenesis.

Detection and Diagnosis of Chromosomal Instability:

1. Karyotyping: This is a technique used to visualize the entire set of chromosomes in a cell. It can help identify structural abnormalities such as deletions, duplications, or translocations.
2. Fluorescence in situ hybridization (FISH): This technique uses fluorescent probes to detect specific DNA sequences or proteins on chromosomes. It can help identify changes in chromosome structure or number.
3. Array comparative genomic hybridization (aCGH): This technique compares the genetic material of a sample to a reference genome to identify copy number changes.
4. Next-generation sequencing (NGS): This technique can identify point mutations and other genetic changes in DNA.

Treatment and Management of Chromosomal Instability:

1. Cancer treatment: Depending on the type and stage of cancer, treatments such as chemotherapy, radiation therapy, or surgery may be used to eliminate cancer cells with CIN.
2. Prenatal testing: Pregnant women with a family history of CIN can undergo prenatal testing to detect chromosomal abnormalities in their fetuses.
3. Genetic counseling: Individuals with a family history of CIN can consult with a genetic counselor to discuss risk factors and potential testing options.
4. Lifestyle modifications: Making healthy lifestyle choices such as maintaining a balanced diet, exercising regularly, and not smoking can help reduce the risk of developing cancer and other diseases associated with CIN.

In conclusion, chromosomal instability is a common feature of many human diseases, including cancer, and can be caused by a variety of factors. The diagnosis and management of CIN require a multidisciplinary approach that includes cytogenetic analysis, molecular diagnostics, and clinical evaluation. Understanding the causes and consequences of CIN is crucial for developing effective therapies and improving patient outcomes.

There are several types of chromosome fragility, including:

1. Fragile X syndrome: This is the most common form of chromosome fragility and is caused by an expansion of a CGG repeat in the FMR1 gene on the X chromosome. It is associated with intellectual disability, behavioral problems, and physical characteristics such as large ears and long faces.
2. Turner syndrome: This is a condition where one X chromosome is missing or partially deleted, leading to short stature, infertility, and other developmental delays.
3. Klinefelter syndrome: This is a condition where an individual has an extra X chromosome, leading to tall stature, small testes, and infertility.
4. Trisomy 13 and trisomy 18: These are conditions where there is an extra copy of chromosomes 13 or 18, leading to developmental delays and other physical and intellectual disabilities.
5. Chromosome breakage syndromes: These are conditions where there is a defect in the chromosome that increases the risk of breakage during cell division, leading to aneuploidy or structural changes. Examples include ataxia-telangiectasia and Nijmegen breakage syndrome.

Chromosome fragility can be diagnosed through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). Treatment for chromosome fragility depends on the specific condition and may include medication, surgery, or other interventions.

The symptoms of chromosome duplication vary depending on the location and number of extra chromosomes present. Some common symptoms include:

* Delayed development and growth
* Intellectual disability
* Speech and language delays
* Physical abnormalities, such as heart defects or facial dysmorphism
* Increased risk of developing certain health problems, such as autism or epilepsy

Chromosome duplication can be diagnosed through a blood test or by analyzing cells from the body. Treatment is based on the specific symptoms and may include speech therapy, physical therapy, medication, or surgery.

Prognosis for individuals with chromosome duplication varies depending on the location and number of extra chromosomes present, as well as the presence of any other genetic conditions. Some individuals with chromosome duplication may have a good prognosis and lead normal lives, while others may experience significant health problems and developmental delays.

In some cases, chromosome duplication can be inherited from one or both parents, who may be carriers of the condition but do not exhibit any symptoms themselves. In other cases, chromosome duplication can occur spontaneously due to a mistake during cell division.

There is currently no cure for chromosome duplication, but early diagnosis and appropriate interventions can help manage symptoms and improve outcomes for affected individuals.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

Polyploidy is a condition where an organism has more than two sets of chromosomes, which are the thread-like structures that carry genetic information. It can occur in both plants and animals, although it is relatively rare in most species. In humans, polyploidy is extremely rare and usually occurs as a result of errors during cell division or abnormal fertilization.

In medicine, polyploidy is often used to describe certain types of cancer, such as breast cancer or colon cancer, that have extra sets of chromosomes. This can lead to the development of more aggressive and difficult-to-treat tumors.

However, not all cases of polyploidy are cancerous. Some individuals with Down syndrome, for example, have an extra copy of chromosome 21, which is a non-cancerous form of polyploidy. Additionally, some people may be born with extra copies of certain genes or chromosomal regions due to errors during embryonic development, which can lead to various health problems but are not cancerous.

Overall, the term "polyploidy" in medicine is used to describe any condition where an organism has more than two sets of chromosomes, regardless of whether it is cancerous or non-cancerous.

There are several types of sex chromosome disorders, including:

1. Turner Syndrome: A condition that occurs in females who have only one X chromosome instead of two. This can lead to short stature, infertility, and other health problems.
2. Klinefelter Syndrome: A condition that occurs in males who have an extra X chromosome (XXY). This can lead to tall stature, breast enlargement, and infertility.
3. XXY Syndrome: A condition that occurs in individuals with two X chromosomes and one Y chromosome. This can lead to tall stature, breast enlargement, and fertility problems.
4. XYY Syndrome: A condition that occurs in individuals with an extra Y chromosome (XYY). This can lead to taller stature and fertility problems.
5. Mosaicism: A condition where there is a mixture of normal and abnormal cells in the body, often due to a genetic mutation that occurred during embryonic development.
6. Y chromosome variants: These are variations in the Y chromosome that can affect male fertility or increase the risk of certain health problems.
7. Uniparental disomy: A condition where an individual has two copies of one or more chromosomes, either due to a genetic mutation or because of a mistake during cell division.
8. Structural variations: These are changes in the structure of the sex chromosomes, such as deletions, duplications, or translocations, which can affect gene expression and increase the risk of certain health problems.

Sex chromosome disorders can be diagnosed through chromosomal analysis, which involves analyzing a person's cells to determine their sex chromosome makeup. Treatment for these disorders varies depending on the specific condition and may include hormone therapy, surgery, or other medical interventions.

Monosomy refers to a condition where an individual has only one copy of a particular chromosome, instead of the usual two copies present in every cell of the body. This can occur due to various genetic or environmental factors and can lead to developmental delays, intellectual disability, and physical abnormalities.

Other Defination:
Monosomy can also refer to the absence of a specific chromosome or part of a chromosome. For example, monosomy 21 is the condition where an individual has only one copy of chromosome 21, which is the chromosome responsible for Down syndrome. Similarly, monosomy 8p is the condition where there is a loss of a portion of chromosome 8p.

Synonyms:
Monosomy is also known as single chromosome deletion or single chromosome monosomy.

Antonyms:
Polysomy, which refers to the presence of extra copies of a particular chromosome, is the antonym of monosomy.

In Medical Terminology:
Monosomy is a genetic term that is used to describe a condition where there is only one copy of a particular chromosome present in an individual's cells, instead of the usual two copies. This can occur due to various factors such as errors during cell division or exposure to certain chemicals or viruses. Monosomy can lead to a range of developmental delays and physical abnormalities, depending on the location and extent of the missing chromosome material.

In Plain English:
Monosomy is a condition where a person has only one copy of a particular chromosome instead of two copies. This can cause developmental delays and physical abnormalities, and can be caused by genetic or environmental factors. It's important to note that monosomy can occur on any chromosome, but some specific types of monosomy are more common and well-known than others. For example, Down syndrome is a type of monosomy that occurs when there is an extra copy of chromosome 21.

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."


Synonyms: BCR-ABL fusion gene, t(9;22)(q34;q11), p210 protein, bcr-abl fusion transcript, breakpoint cluster region (BCR) - Abelson tyrosine kinase (ABLE) fusion gene.

Word Origin: Named after the city of Philadelphia, where it was first described in 1960.

There are various causes of intellectual disability, including:

1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.

Intellectual disability can result in a range of cognitive and functional impairments, including:

1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.

There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:

1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.

It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

Down syndrome can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, or after birth through a blood test. The symptoms of Down syndrome can vary from person to person, but common physical features include:

* A flat face with a short neck and small ears
* A short stature
* A wide, short hands with short fingers
* A small head
* Almond-shaped eyes that are slanted upward
* A single crease in the palm of the hand

People with Down syndrome may also have cognitive delays and intellectual disability, as well as increased risk of certain medical conditions such as heart defects, gastrointestinal problems, and hearing and vision loss.

There is no cure for Down syndrome, but early intervention and proper medical care can greatly improve the quality of life for individuals with the condition. Treatment may include speech and language therapy, occupational therapy, physical therapy, and special education programs. With appropriate support and resources, people with Down syndrome can lead fulfilling and productive lives.

The causes of SCSDs are not fully understood, but they are thought to be related to genetic mutations or variations in the sex chromosomes. The diagnosis of an SCSD typically involves a combination of clinical evaluation, laboratory tests, and imaging studies. Treatment for these disorders can range from hormone replacement therapy to surgery and other forms of gender-affirming care.

The term "sex chromosome disorders of sex development" is used to describe a group of conditions that affect the development of reproductive organs and secondary sex characteristics in individuals with variations in their sex chromosomes. These conditions are also known as intersex conditions or DSDs (disorders of sex development).

The term "intersex" refers to individuals who are born with reproductive or sexual anatomy that doesn't fit typical male or female classifications. This can include a variety of physical characteristics, such as chromosomes, gonads, hormones, or genitals that are not typical for either males or females. The term "intersex" is often used to describe individuals who have variations in their sex chromosomes, hormone levels, or genitalia that do not fit typical male/female classifications.

Intersex traits can be diagnosed at birth or later in life, and the diagnosis can be made based on a variety of factors, including clinical evaluation, laboratory tests, and imaging studies. The treatment for intersex conditions depends on the specific condition and the individual needs of the patient. Some intersex conditions may not require any treatment, while others may require hormone replacement therapy or surgery.

In summary, sex chromosome disorders of sex development (SCSDs) and intersex conditions are terms used to describe individuals who have variations in their sex chromosomes, hormone levels, or genitalia that do not fit typical male/female classifications. These conditions can be diagnosed at birth or later in life and may require treatment based on the specific condition and individual needs of the patient.

Types of Uniparental Disomy:

There are two types of UPD:

1. Uniparental disomy 22 (UPD(22): This type is caused by a deletion of one copy of chromosome 22, resulting in an individual having only one copy of the entire chromosome or a portion of it.
2. Uniparental disomy 15 (UPD(15): This type is caused by a deletion of one copy of chromosome 15, resulting in an individual having only one copy of the entire chromosome or a portion of it.

Causes and Symptoms:

The causes of UPD are not well understood, but it is believed that it may be caused by errors during cell division or the fusion of cells. Symptoms of UPD can vary depending on the location and size of the deleted chromosome material, but they may include:

1. Developmental delays
2. Intellectual disability
3. Speech and language difficulties
4. Behavioral problems
5. Dysmorphic features (physical abnormalities)
6. Congenital anomalies (birth defects)
7. Increased risk of infections and autoimmune disorders
8. Short stature
9. Skeletal abnormalities
10. Cardiac defects

Diagnosis and Treatment:

The diagnosis of UPD is based on a combination of clinical features, chromosomal analysis, and molecular genetic testing. Treatment for UPD is focused on managing the symptoms and addressing any underlying medical issues. This may include:

1. Speech and language therapy
2. Occupational therapy
3. Physical therapy
4. Medications to manage behavioral problems or seizures
5. Surgery to correct physical abnormalities or congenital anomalies
6. Infection prophylaxis (to prevent infections)
7. Immunoglobulin replacement therapy (to boost the immune system)
8. Antibiotics (to treat infections)
9. Cardiac management (to address any heart defects)

Prenatal Diagnosis:

UPD can be diagnosed prenatally using chorionic villus sampling or amniocentesis, which involve analyzing a sample of cells from the placenta or amniotic fluid. This allows parents to prepare for the possibility of a child with UPD and to make informed decisions about their pregnancy.

Counseling and Psychosocial Support:

UPD can have significant psychosocial implications for families, including anxiety, depression, and social isolation. It is essential to provide counseling and psychosocial support to parents and families to help them cope with the diagnosis and manage the challenges of raising a child with UPD.

Genetic Counseling:

UPD can be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition. Genetic counseling can help families understand the risk of recurrence and make informed decisions about their reproductive options.

Rehabilitation and Therapy:

Children with UPD may require ongoing therapy and rehabilitation to address physical, cognitive, and behavioral challenges. This may include occupational therapy, speech therapy, and physical therapy.

Parental Support Groups:

Support groups for parents of children with UPD can provide a valuable source of information, emotional support, and practical advice. These groups can help families connect with others who are facing similar challenges and can help them feel less isolated and more empowered to navigate the complexities of raising a child with UPD.

In conclusion, the diagnosis of UPD can have significant implications for individuals and families. By understanding the causes, symptoms, diagnosis, treatment, and management options, healthcare providers can provide comprehensive care and support to those affected by this condition. Additionally, counseling, psychosocial support, genetic counseling, rehabilitation, and therapy can all play important roles in helping families navigate the challenges of UPD and improving the quality of life for individuals with this condition.

Turner syndrome occurs in approximately 1 in every 2,500 to 3,000 live female births and is more common in girls born to older mothers. The symptoms of Turner syndrome can vary widely and may include:

* Short stature and delayed growth and development
* Infertility or lack of menstruation (amenorrhea)
* Heart defects, such as a narrowed aorta or a hole in the heart
* Eye problems, such as cataracts, glaucoma, or crossed eyes
* Hearing loss or deafness
* Bone and joint problems, such as scoliosis or clubfoot
* Cognitive impairments, including learning disabilities and memory problems
* Delayed speech and language development
* Poor immune function, leading to recurrent infections

Turner syndrome is usually diagnosed at birth or during childhood, based on physical characteristics such as short stature, low muscle tone, or heart defects. Chromosomal analysis can also confirm the diagnosis.

There is no cure for Turner syndrome, but treatment can help manage the symptoms and improve quality of life. Hormone replacement therapy may be used to stimulate growth and development in children, while adults with the condition may require ongoing hormone therapy to maintain bone density and prevent osteoporosis. Surgery may be necessary to correct heart defects or other physical abnormalities. Speech and language therapy can help improve communication skills, and cognitive training may be beneficial for learning disabilities.

The long-term outlook for individuals with Turner syndrome varies depending on the severity of the condition and the presence of any additional health problems. With proper medical care and support, many women with Turner syndrome can lead fulfilling lives, but they may face unique challenges related to fertility, heart health, and other issues.

Male infertility can be caused by a variety of factors, including:

1. Low sperm count or poor sperm quality: This is one of the most common causes of male infertility. Sperm count is typically considered low if less than 15 million sperm are present in a sample of semen. Additionally, sperm must be of good quality to fertilize an egg successfully.
2. Varicocele: This is a swelling of the veins in the scrotum that can affect sperm production and quality.
3. Erectile dysfunction: Difficulty achieving or maintaining an erection can make it difficult to conceive.
4. Premature ejaculation: This can make it difficult for the sperm to reach the egg during sexual intercourse.
5. Blockages or obstructions: Blockages in the reproductive tract, such as a blockage of the epididymis or vas deferens, can prevent sperm from leaving the body during ejaculation.
6. Retrograde ejaculation: This is a condition in which semen is released into the bladder instead of being expelled through the penis during ejaculation.
7. Hormonal imbalances: Imbalances in hormones such as testosterone and inhibin can affect sperm production and quality.
8. Medical conditions: Certain medical conditions, such as diabetes, hypogonadism, and hyperthyroidism, can affect fertility.
9. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and stress can all impact fertility.
10. Age: Male fertility declines with age, especially after the age of 40.

There are several treatment options for male infertility, including:

1. Medications to improve sperm count and quality
2. Surgery to repair blockages or obstructions in the reproductive tract
3. Artificial insemination (IUI) or in vitro fertilization (IVF) to increase the chances of conception
4. Donor sperm
5. Assisted reproductive technology (ART) such as ICSI (intracytoplasmic sperm injection)
6. Hormone therapy to improve fertility
7. Lifestyle changes such as quitting smoking and alcohol, losing weight, and reducing stress.

It's important to note that male infertility is a common condition and there are many treatment options available. If you're experiencing difficulty conceiving, it's important to speak with a healthcare provider to determine the cause of infertility and discuss potential treatment options.

KS occurs in approximately 1 in every 500-1000 male births and is usually diagnosed at puberty or later in life when symptoms become apparent. The extra X chromosome can affect the development of the body, including physical characteristics such as taller stature, less muscle mass, and smaller testes. It can also cause infertility due to low levels of testosterone and other hormonal imbalances.

Symptoms of KS can include:

* Tall stature
* Inferior height compared to peers
* Less muscle mass
* Small testes
* Breast enlargement (gynecomastia)
* Reduced facial and body hair
* Infertility or low sperm count
* Learning disabilities
* Speech and language delays
* Social and emotional difficulties

KS can be diagnosed through chromosomal analysis, which involves examining the patient's cells to determine their sex chromosomes. Treatment for KS typically involves hormone replacement therapy (HRT) to address any hormonal imbalances and may include surgery or other interventions to address physical characteristics such as breasts or infertility.

It is important to note that KS is a spectrum disorder, meaning that the severity of symptoms can vary widely among individuals with the condition. Some men with KS may have mild symptoms and lead relatively normal lives, while others may experience more significant challenges. With appropriate medical care and support, many individuals with KS are able to lead fulfilling lives.

PWS is characterized by a range of physical, cognitive, and behavioral symptoms, including:

1. Delayed growth and development: Individuals with PWS often have slowed growth before birth and may be born with low birth weight. They may also experience delayed puberty and short stature compared to their peers.
2. Intellectual disability: Many individuals with PWS have intellectual disability, which can range from mild to severe.
3. Behavioral problems: PWS is often associated with behavioral challenges, such as attention deficit hyperactivity disorder (ADHD), anxiety, and obsessive-compulsive disorder (OCD).
4. Feeding and eating difficulties: Individuals with PWS may have difficulty feeding and swallowing, which can lead to nutritional deficiencies and other health problems. They may also experience a condition called "hyperphagia," which is characterized by excessive hunger and overeating.
5. Sleep disturbances: PWS is often associated with sleep disturbances, such as insomnia and restlessness.
6. Short stature: Individuals with PWS tend to be shorter than their peers, with an average adult height of around 4 feet 10 inches (147 cm).
7. Body composition: PWS is often characterized by a high percentage of body fat, which can increase the risk of obesity and other health problems.
8. Hormonal imbalances: PWS can disrupt the balance of hormones in the body, leading to issues such as hypogonadism (low testosterone levels) and hypothyroidism (underactive thyroid).
9. Dental problems: Individuals with PWS are at increased risk of dental problems, including tooth decay and gum disease.
10. Vision and hearing problems: Some individuals with PWS may experience vision and hearing problems, such as nearsightedness, farsightedness, and hearing loss.

It's important to note that every individual with PWS is unique, and not all will experience all of these symptoms. Additionally, the severity of the disorder can vary widely from person to person. With proper medical care and management, however, many individuals with PWS can lead fulfilling and productive lives.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

Definition: Isochromosomes are chromosomes that have the same banding pattern and the same number of genes, but differ in size due to variations in the amount of repetitive DNA sequences.

Example: In some cases of cancer, isochromosomes may be present as a result of a chromosomal abnormality. These abnormalities can lead to changes in the expression of genes and potentially contribute to the development and progression of cancer.

Synonyms: Isochromosomes are also known as isochromosomi or isochromosomal aberrations.

Antonyms: There are no direct antonyms for isochromosomes, but related terms that refer to abnormalities in chromosome structure or number include aneuploidy, translocations, and deletions.

There are several possible causes of oligospermia, including:

* Hormonal imbalances
* Varicocele (a swelling of the veins in the scrotum)
* Infections such as epididymitis or prostatitis
* Blockages such as a vasectomy or epididymal obstruction
* Certain medications such as anabolic steroids and chemotherapy drugs
* Genetic disorders
* Environmental factors such as exposure to toxins or radiation

Symptoms of oligospermia may include:

* Difficulty getting an erection
* Premature ejaculation
* Low sex drive
* Painful ejaculation

Diagnosis of oligospermia typically involves a physical exam, medical history, and semen analysis. Treatment will depend on the underlying cause of the condition, but may include medications to improve sperm count and quality, surgery to correct blockages or varicoceles, or assisted reproductive technologies such as in vitro fertilization (IVF).

It's important to note that a low sperm count does not necessarily mean a man is infertile. However, it can make it more difficult to conceive a child. With appropriate treatment and lifestyle changes, some men with oligospermia may be able to improve their fertility and have children.

The presence of chromosome-defective micronuclei in cells can be an indication of genetic damage and may be used as a diagnostic marker for certain diseases or conditions, such as cancer or exposure to toxic substances. The frequency and distribution of these structures within a cell population can also provide information about the type and severity of genetic damage present.

In contrast to other types of micronuclei, which are typically smaller and less complex, chromosome-defective micronuclei are larger and more irregular in shape, and may contain fragmented or abnormal chromatin material. They can also be distinguished from other types of micronuclei by their specific staining properties and the presence of certain structural features, such as the presence of nucleoli or the absence of a membrane boundary.

Overall, the study of chromosome-defective micronuclei is an important tool for understanding the mechanisms of genetic damage and disease, and may have practical applications in fields such as cancer diagnosis and environmental health assessment.

* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.

Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:

* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking

There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:

* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.

In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.

Tetraploidy can be caused by various factors such as:

1. Polyploidy: This is a condition where an individual has more than two sets of chromosomes, including tetraploidy.
2. Chromosomal abnormalities: Such as aneuploidy, where there is an extra or missing copy of a specific chromosome.
3. Genetic disorders: Such as Down syndrome, which is caused by an extra copy of chromosome 21.
4. Environmental factors: Exposure to certain chemicals or radiation can increase the risk of tetraploidy.

Symptoms of tetraploidy can vary depending on the severity of the condition and may include:

1. Growth delays: Children with tetraploidy may experience slowed growth and development.
2. Intellectual disability: Some individuals with tetraploidy may have cognitive impairments and learning difficulties.
3. Physical abnormalities: Tetraploidy can result in a variety of physical characteristics, such as short stature, thinning hair, and distinctive facial features.
4. Increased risk of health problems: Individuals with tetraploidy may be more susceptible to certain health issues, such as heart defects, hearing loss, and vision problems.

Diagnosis of tetraploidy is typically made through chromosomal analysis, which can be performed on a blood or tissue sample. Treatment for tetraploidy is not always necessary, but may include:

1. Monitoring growth and development: Regular check-ups with a healthcare provider can help track the child's growth and development.
2. Speech and language therapy: Children with tetraploidy may benefit from speech and language therapy to address any communication difficulties.
3. Occupational therapy: Individuals with tetraploidy may need occupational therapy to help them develop skills and abilities.
4. Medication: In some cases, medication may be prescribed to manage associated health problems, such as heart defects or seizures.

It is important to note that every individual with tetraploidy is unique and may have a different experience and outcome. With appropriate medical care and support, many individuals with tetraploidy can lead fulfilling lives.

The main symptoms of AS include:

1. Developmental delay: Children with AS typically experience delays in reaching milestones such as sitting, standing, and walking.
2. Intellectual disability: Individuals with AS often have low IQ scores and may have difficulty with language skills, memory, and problem-solving.
3. Happy demeanor: People with AS are known to have a happy, outgoing, and sociable personality.
4. Speech and language difficulties: Individuals with AS may have trouble articulating words and sentences.
5. Motor skills problems: They may experience difficulty with coordination, balance, and fine motor skills.
6. Seizures: About 10% of individuals with AS experience seizures, usually in the form of atonic seizures (also known as drop attacks).
7. Sleep disturbances: Many people with AS have sleep problems, including insomnia and restlessness.
8. Behavioral issues: Some individuals with AS may exhibit behavioral challenges such as hyperactivity, impulsivity, and anxiety.
9. Vision problems: Some people with AS may experience vision difficulties, including strabismus (crossed eyes) and nystagmus (involuntary eye movements).
10. Feeding difficulties: Some individuals with AS may have trouble feeding themselves or experiencing gastrointestinal issues.

There is no cure for Angelman Syndrome, but various therapies can help manage the symptoms and improve the quality of life for individuals affected by the disorder. These may include physical therapy, occupational therapy, speech therapy, and behavioral interventions. Medications such as anticonvulsants and mood stabilizers may also be prescribed to manage seizures and other symptoms.

People with XYY karyotype may experience a range of physical and developmental symptoms, including:

* Delayed speech and language development
* Learning disabilities
* Behavioral problems such as ADHD
* Short stature
* Increased risk of infertility or low sperm count
* Other health problems such as heart defects or eye abnormalities

The XYY karyotype is usually diagnosed through chromosomal analysis, which can be performed on a blood sample or other tissue sample. The condition is relatively rare, occurring in less than 1% of the male population.

There is no specific treatment for XYY karyotype, but individuals with the condition may benefit from early intervention and special education services to address any developmental delays or learning disabilities. In some cases, hormone therapy or other medical treatments may be recommended to address related health issues.

Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.

Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.

In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.

It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.

See also: Cancer, Tumor

Word count: 190

The primary symptoms of DiGeorge syndrome include:

1. Cleft palate or other congenital facial abnormalities
2. Heart defects, such as Tetralogy of Fallot
3. Developmental delays and learning disabilities
4. Speech difficulties
5. Hearing loss
6. Vision problems
7. Immune system dysfunction
8. Thyroid gland abnormalities
9. Kidney and urinary tract defects
10. Increased risk of infections

DiGeorge syndrome is caused by a genetic mutation that occurs sporadically, meaning it is not inherited from either parent. The condition is usually diagnosed during infancy or early childhood, based on the presence of distinctive physical features and developmental delays. Treatment for DiGeorge syndrome typically involves managing the associated symptoms and developmental delays through a combination of medical interventions, therapies, and special education. With appropriate support and care, individuals with DiGeorge syndrome can lead fulfilling lives, although they may require ongoing medical attention throughout their lives.

Here are some key points to consider when discussing azoospermia:

1. Causes: Azoospermia can be caused by various factors, including blockages due to surgery, injury, or infection, hormonal imbalances, anatomical abnormalities like varicocele, and chromosomal abnormalities.
2. Diagnosis: Azoospermia is typically diagnosed through semen analysis, which involves examining a semen sample under a microscope to determine the presence of sperm cells. Other tests may also be performed to identify any underlying causes, such as hormone level testing and ultrasound imaging.
3. Treatment: Treatment for azoospermia depends on the underlying cause, but may include medications to address hormonal imbalances or surgery to correct anatomical abnormalities. Assisted reproductive technologies (ART) like IVF or ICSI can also be used to help achieve pregnancy.
4. Prognosis: The prognosis for azoospermia varies depending on the underlying cause and the effectiveness of treatment. In general, the earlier the condition is diagnosed and treated, the better the prognosis.
5. Impact on fertility: Azoospermia can significantly impact fertility, as the absence of sperm in the semen makes it difficult or impossible to achieve pregnancy through natural means. However, with the help of ART, many men with azoospermia can still achieve fatherhood.
6. Psychological impact: Azoospermia can have significant psychological and emotional impacts on men and their partners, particularly if they are trying to conceive. It is important to provide support and counseling to help cope with the challenges of this condition.
7. Prevention: There is no known prevention for azoospermia, as it is often caused by underlying genetic or hormonal factors. However, identifying and addressing any underlying causes early on can improve outcomes and increase the chances of achieving pregnancy.

Myeloid leukemia can be classified into several subtypes based on the type of cell involved and the degree of maturity of the abnormal cells. The most common types of myeloid leukemia include:

1. Acute Myeloid Leukemia (AML): This is the most aggressive form of myeloid leukemia, characterized by a rapid progression of immature cells that do not mature or differentiate into normal cells. AML can be further divided into several subtypes based on the presence of certain genetic mutations or chromosomal abnormalities.
2. Chronic Myeloid Leukemia (CML): This is a slower-growing form of myeloid leukemia, characterized by the presence of a genetic abnormality known as the Philadelphia chromosome. CML is typically treated with targeted therapies or bone marrow transplantation.
3. Myelodysplastic Syndrome (MDS): This is a group of disorders characterized by the impaired development of immature blood cells in the bone marrow. MDS can progress to AML if left untreated.
4. Chronic Myelomonocytic Leukemia (CMML): This is a rare form of myeloid leukemia that is characterized by the accumulation of immature monocytes in the blood and bone marrow. CMML can be treated with chemotherapy or bone marrow transplantation.

The symptoms of myeloid leukemia can vary depending on the subtype and severity of the disease. Common symptoms include fatigue, weakness, fever, night sweats, and weight loss. Diagnosis is typically made through a combination of physical examination, blood tests, and bone marrow biopsy. Treatment options for myeloid leukemia can include chemotherapy, targeted therapies, bone marrow transplantation, and supportive care to manage symptoms and prevent complications. The prognosis for myeloid leukemia varies depending on the subtype of the disease and the patient's overall health. With current treatments, many patients with myeloid leukemia can achieve long-term remission or even be cured.

The term "gonadal dysgenesis" is used to describe a wide spectrum of abnormalities that affect the development of the gonads, including:

1. Turner Syndrome: A rare genetic disorder caused by a missing or partially deleted X chromosome, which can result in short stature, infertility, and characteristic physical features such as a small head, ears, and hands.
2. Klinefelter Syndrome: A condition in which an individual has an extra X chromosome, leading to infertility, hypogonadism, and a range of physical characteristics such as breast enlargement and small testes.
3. Androgen Insensitivity Syndrome (AIS): A condition in which the body is unable to respond to androgens (male hormones), resulting in female physical characteristics despite the presence of XY chromosomes.
4. Persistent Mullerian Duct Syndrome (PMDS): A rare condition in which the müllerian ducts (the precursors of the uterus and fallopian tubes) do not properly develop, leading to a range of physical and reproductive abnormalities.
5. Congenital Adrenal Hyperplasia (CAH): An inherited disorder that affects the production of hormones by the adrenal glands, which can lead to ambiguous genitalia and other physical symptoms.

The exact cause of gonadal dysgenesis is not always known, but it can be due to genetic mutations, chromosomal abnormalities, or environmental factors. Diagnosis is typically made based on a combination of clinical features, hormone levels, and genetic testing. Treatment options vary depending on the specific condition and may include hormone therapy, surgery, and/or psychological support.

Congenital hand deformities are present at birth and can be caused by genetic mutations or environmental factors during fetal development. They can affect any part of the hand, including the fingers, thumb, or wrist. Some common congenital hand deformities include:

1. Clubhand: A deformity characterized by a shortened hand with the fingers and thumb all bent towards the palm.
2. Clinodactyly: A deformity characterized by a curved or bent finger.
3. Postaxial polydactyly: A deformity characterized by an extra digit on the little finger side of the hand.
4. Preaxial polydactyly: A deformity characterized by an extra digit on the thumb side of the hand.
5. Symbrachydactyly: A deformity characterized by a shortened or missing hand with no or only a few fingers.

The symptoms of congenital hand deformities can vary depending on the type and severity of the deformity. Some common symptoms include:

1. Limited range of motion in the affected hand.
2. Difficulty grasping or holding objects.
3. Pain or stiffness in the affected hand.
4. Abnormal finger or thumb position.
5. Aesthetic concerns.

The diagnosis of congenital hand deformities is usually made through a combination of physical examination, medical history, and imaging studies such as X-rays or ultrasound. Treatment options for congenital hand deformities can vary depending on the type and severity of the deformity and may include:

1. Surgery to correct the deformity.
2. Physical therapy to improve range of motion and strength.
3. Bracing or splinting to support the affected hand.
4. Orthotics or assistive devices to help with daily activities.
5. Medications to manage pain or inflammation.

It is important to seek medical attention if you suspect that your child may have a congenital hand deformity, as early diagnosis and treatment can improve outcomes and reduce the risk of complications.

Types of Craniofacial Abnormalities:

1. Cleft lip and palate: A congenital deformity that affects the upper jaw, nose, and mouth.
2. Premature fusion of skull bones: Can result in an abnormally shaped head or face.
3. Distraction osteogenesis: A condition where the bones fail to grow properly, leading to abnormal growth patterns.
4. Facial asymmetry: A condition where one side of the face is smaller or larger than the other.
5. Craniosynostosis: A condition where the skull bones fuse together too early, causing an abnormally shaped head.
6. Micrognathia: A condition where the lower jaw is smaller than normal, which can affect breathing and feeding.
7. Macroglossia: A condition where the tongue is larger than normal, which can cause difficulty swallowing and breathing.
8. Oculofacial dysostosis: A condition that affects the development of the eyes and face.
9. Treacher Collins syndrome: A rare genetic disorder that affects the development of the face, particularly the eyes, ears, and jaw.

Causes of Craniofacial Abnormalities:

1. Genetics: Many craniofacial abnormalities are inherited from one or both parents.
2. Environmental factors: Exposure to certain drugs, alcohol, or infections during pregnancy can increase the risk of craniofacial abnormalities.
3. Premature birth: Babies born prematurely are at a higher risk for craniofacial abnormalities.
4. Trauma: Head injuries or other traumatic events can cause craniofacial abnormalities.
5. Infections: Certain infections, such as meningitis or encephalitis, can cause craniofacial abnormalities.

Treatment of Craniofacial Abnormalities:

1. Surgery: Many craniofacial abnormalities can be treated with surgery to correct the underlying deformity.
2. Orthodontic treatment: Braces or other orthodontic devices can be used to align teeth and improve the appearance of the face.
3. Speech therapy: Certain craniofacial abnormalities, such as micrognathia, can affect speech development. Speech therapy can help improve communication skills.
4. Medication: In some cases, medication may be prescribed to manage symptoms associated with craniofacial abnormalities, such as pain or breathing difficulties.
5. Rehabilitation: Physical therapy and occupational therapy can help individuals with craniofacial abnormalities regain function and mobility after surgery or other treatments.

It is important to note that the treatment of craniofacial abnormalities varies depending on the specific condition and its severity. A healthcare professional, such as a pediatrician, orthodontist, or plastic surgeon, should be consulted for proper diagnosis and treatment.

It is also important to remember that craniofacial abnormalities can have a significant impact on an individual's quality of life, affecting their self-esteem, social relationships, and ability to function in daily activities. Therefore, it is essential to provide appropriate support and resources for individuals with these conditions, including psychological counseling, social support groups, and education about the condition.

The main features of BWS include:

1. Macroglossia (enlarged tongue): This is the most common feature of BWS, and it can cause difficulty with speaking and breathing.
2. Protruding ears: Children with BWS often have large ears that stick out from their head.
3. Omphalocele: This is a birth defect in which the intestines or other organs protrude through the navel.
4. Hydrocephalus: This is a build-up of fluid in the brain, which can cause increased pressure and enlargement of the head.
5. Polyhydramnios: This is a condition in which there is too much amniotic fluid surrounding the fetus during pregnancy.
6. Imperforate anus: This is a birth defect in which the anus is not properly formed, leading to difficulty with bowel movements.
7. Developmental delays: Children with BWS may experience delays in reaching developmental milestones, such as sitting, standing, and walking.
8. Intellectual disability: Some individuals with BWS may have mild to moderate intellectual disability.
9. Increased risk of cancer: Individuals with BWS have an increased risk of developing certain types of cancer, particularly Wilms tumor (a type of kidney cancer) and hepatoblastoma (a type of liver cancer).

There is no cure for Beckwith-Wiedemann Syndrome, but various treatments can be used to manage the associated symptoms and prevent complications. These may include surgery, physical therapy, speech therapy, and medication. With appropriate medical care and support, individuals with BWS can lead fulfilling lives.

Samson RY, Bell SD (2014). "Archaeal chromosome biology". Journal of Molecular Microbiology and Biotechnology. 24 (5-6): 420-27 ... refers to only one copy of each chromosome. Some eukaryotes have distinctive sex chromosomes such as the X and Y chromosomes of ... Eukaryotic genomes are composed of one or more linear DNA chromosomes. The number of chromosomes varies widely from Jack jumper ... it consists of one copy of each of the 22 autosomes plus one X chromosome and one Y chromosome. A genome sequence is the ...
"A closed Candidatus Odinarchaeum chromosome exposes Asgard archaeal viruses". Nature Microbiology. 7 (7): 948-952. doi:10.1038/ ... Two other archaeal phyla, both outside of Asgard, were found to also have tails in 2018. In January 2020, scientists found ... Medvedeva S, Sun J, Yutin N, Koonin EV, Nunoura T, Rinke C, Krupovic M (July 2022). "Three families of Asgard archaeal viruses ... Two groups of viruses are related to archaeal and bacterial viruses of the class Caudoviricetes, i.e., viruses with icosahedral ...
Archaeal Genetics is the study of genes that consist of single nucleus-free cells. Archaea have a single, circular chromosomes ... Archaeal chromosomes replicate from different origins of replication, producing two haploid daughter cells. " They share a ... "Archaeal genetics - Latest research and news , Nature". www.nature.com. "Archaeal Genetics , Boundless Microbiology". courses. ... Even though archaeal cells have cells walls, they do not contain peptidoglycan, which means archaea do not produce cellulose or ...
"Extrachromosomal element capture and the evolution of multiple replication origins in archaeal chromosomes". Proceedings of the ... Although the evolutionary kinship of archaeal and eukaryotic initiators and replicative helicases indicates that archaeal MCM ... Like the archaeal replicative helicase core, Mcm2-7 is loaded as a head-to-head double hexamer onto DNA to license origins. In ... Archaeal replication origins share some but not all of the organizational features of bacterial oriC. Unlike bacteria, Archaea ...
The origins are generally AT-rich tracts that vary based on the archaeal species. The singular archaeal ORC protein recognizes ... Eukaryotes typically have multiple origins of replication; at least one per chromosome. Saccharomyces cerevisiae (S. cerevisiae ... Bell SP, Labib K (July 2016). "Chromosome Duplication in Saccharomyces cerevisiae". Genetics. 203 (3): 1027-1067. doi:10.1534/ ... The archaeal pre-RC is very different from the bacterial pre-RC and can serve as a simplified model of the eukaryotic pre-RC. ...
This strain displays a GC-content of 46.1% in a circular chromosome of 3.68 Mbp. 3,928 protein-coding sequences were identified ... RAST, Rapid Annotation using Subsystem Technology, is a server that generates bacterial and archaeal genome annotations. The ...
In 1992, yeast chromosome III was the first chromosome of any organism to be fully sequenced. The first organism whose entire ... The first bacterial and archaeal genomes, including that of H. influenzae, were sequenced by Shotgun sequencing. In 1996 the ... and yeast artificial chromosomes (YACs). In 1999, the entire DNA sequence of human chromosome 22, the shortest human autosome, ... May 1992). "The complete DNA sequence of yeast chromosome III". Nature. 357 (6373): 38-46. Bibcode:1992Natur.357...38O. doi: ...
They are encoded by genes within histone cluster 1 located in human cells on chromosome 6. The five further variants are ... Rather than originating from archaeal histones, it probably evolved from a bacterial protein. Unlike core histones featuring a ... inactive chromatin: distribution in human fetal fibroblasts". Chromosome Research. 8 (5): 405-424. doi:10.1023/A:1009262819961 ...
... the bacterial chromosomes, the double stranded DNA viral genomes, and the archaeal chromosomes. It does not apply to organellar ... specifically it applies to the eukaryotic chromosomes, ...
In D. melanogaster, condensin II subunits contribute to the dissolution of polytene chromosomes and the formation of chromosome ... Many eubacterial and archaeal species have SMC-ScpAB, whereas a subgroup of eubacteria (known as Gammaproteobacteria) including ... High-throughput chromosome conformation capture). The impact of condensin deficiency on chromosome conformation has been ... elegans has a specialized chromosome structure known as holocentric chromosomes. Fungi, such as S. cerevisiae and S. pombe have ...
Pereira SL, Grayling RA, Lurz R, Reeve JN (November 1997). "Archaeal nucleosomes". Proceedings of the National Academy of ... Chromosomes can also be fused artificially. For example, the 16 chromosomes of yeast have been fused into one giant chromosome ... Chromosomes in humans can be divided into two types: autosomes (body chromosome(s)) and allosome (sex chromosome(s)). Certain ... and two sex chromosomes. This gives 46 chromosomes in total. Other organisms have more than two copies of their chromosome ...
Although chromosomes are initially shattered into many fragments, complete chromosomes are regenerated by making use of over- ... Whole proteome comparisons show the definite archaeal nature of this halophile with additional similarities to the Gram- ... NRC-1 genome consists of 2,571,010 base pairs on one large chromosome and two mini-chromosomes. The genome encodes 2,360 ... The large chromosome is very G-C rich (68%). High GC-content of the genome increases stability in extreme environments. ...
The Archaeoglobus fulgidus genome is a circular chromosome roughly half the size of E. coli at 2,178,000 base pairs. Although ... Another quarter encodes proteins unique to the archaeal domain. One observation about the genome is that there are many gene ... However, the possibility that the shared presence of these signature proteins in these archaeal lineages is due to lateral gene ... Comparative genomic studies on archaeal genomes provide evidence that members of the genus Archaeoglobus are the closest ...
Cell division is controlled in a cell cycle; after the cell's chromosome is replicated and the two daughter chromosomes ... Although research is limited in archaeal quorum sensing, some studies have uncovered LuxR proteins in archaeal species, ... archaeal flagella are synthesized by adding subunits at the base. Archaeal membranes are made of molecules that are distinctly ... discovery of the ARMAN group of archaea Browse any completed archaeal genome at UCSC Comparative Analysis of Archaeal Genomes ( ...
Guo FB, Ou HY, Zhang CT (2003). "ZCURVE: a new system for recognizing protein-coding genes in bacterial and archaeal genomes". ... "Origin of replication in circular prokaryotic chromosomes". Environ. Microbiol. 8 (2): 353-61. doi:10.1111/j.1462-2920.2005. ... Zhang R, Zhang CT (2005). "Identification of replication origins in archaeal genomes based on the Z-curve method". Archaea. 1 ( ... "Origin of replication in circular prokaryotic chromosomes". Environmental Microbiology. 8 (2): 353-361. doi:10.1111/j.1462- ...
The conserved neighborhood method is based on the hypothesis that if genes encoding two proteins are neighbors on a chromosome ... of gene pair conservation across nine bacterial and archaeal genomes. The method is most effective in prokaryotes with operons ... The adjacency of these two genes was shown to be conserved across nine different bacterial and archaeal genomes. Classification ...
Not only eukaryotic viruses integrate into the genomes of their hosts; many bacterial and archaeal viruses also employ this ... not only refers to a retrovirus but is also used to describe other viruses that can integrate into the host chromosomes, ... Krupovic M, Prangishvili D, Hendrix RW, Bamford DH (2011). "Genomics of bacterial and archaeal viruses: dynamics within the ...
Further, the viral origins of the modern eukaryotic nucleus may have relied on multiple infections of archaeal cells carrying ... a DNA chromosome encapsulated within a lipid membrane). In theory, a large DNA virus could take control of a bacterial or ... However, this theory is controversial, and additional experimentation involving archaeal viruses is necessary, as they are ... Bell modified his original thesis to suggest that the viral ancestor of the nucleus was an NCLDV-like archaeal virus rather ...
... chromosomes, archaeal MeSH A11.284.187.178 - chromosomes, artificial MeSH A11.284.187.178.170 - chromosomes, artificial, ... x chromosome MeSH A11.284.187.865.982.500 - chromosomes, human, x MeSH A11.284.187.865.983 - y chromosome MeSH A11.284.187.865. ... chromosomes, human, pair 12 MeSH A11.284.187.520.300.325.680 - chromosomes, human, x MeSH A11.284.187.520.300.370 - chromosomes ... philadelphia chromosome MeSH A11.284.187.520.300.505.757 - chromosomes, human, y MeSH A11.284.187.560 - chromosomes, plant MeSH ...
The genome consists of 2.79 Mega-bases on a circular chromosome with four circular plasmids. The genome includes 4,246 genes of ... larsenii was sequenced using Illumina dye sequencing HiSeq 2000 by Iain Anderson as part of the Archaeal Tree of Life Project ...
... chromosome pairing MeSH G05.105.220.687.500.299.500 - synaptonemal complex MeSH G05.105.220.687.500.600 - pachytene stage MeSH ... archaeal MeSH G05.315.300 - gene expression regulation, bacterial MeSH G05.315.310 - gene expression regulation, developmental ... chromosome pairing MeSH G05.105.220.875.500.299.500 - synaptonemal complex MeSH G05.105.220.875.500.600 - pachytene stage MeSH ... chromosome segregation MeSH G05.105.220.625.620 - nondisjunction, genetic MeSH G05.105.220.687 - meiosis MeSH G05.105.220.687. ...
Certain archaeal viruses were shown to carry mini-CRISPR arrays containing one or two spacers. It has been shown that spacers ... It is the partial repeat sequence that prevents the CRISPR-Cas system from targeting the chromosome as base pairing beyond the ... Charpentier E, Richter H, van der Oost J, White MF (May 2015). "Biogenesis pathways of RNA guides in archaeal and bacterial ... Francisco Mojica at the University of Alicante in Spain studied repeats observed in the archaeal organisms of Haloferax and ...
Genes on human chromosome 11, All articles with unsourced statements, Articles with unsourced statements from December 2019). ... "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M". Nature Genetics. ...
In human reproduction, each diploid cell contains 46 chromosomes, or 23 pair chromosomes. Meiosis in the parents' gonads ... Exposure of hyperthermophilic archaeal Sulfolobus species to DNA damaging conditions induces cellular aggregation accompanied ... In meiosis, DNA is replicated to produce a total of four copies of each chromosome. This is followed by two cell divisions to ... Homologous chromosomes contain highly similar but not identical information, and by exchanging these similar but not identical ...
Eukaryotic and archaeal 7S RNAs have very similar secondary structures. In most bacteria, the SRP consists of an RNA molecule ( ... Genes on human chromosome 14, All articles with unsourced statements, Articles with unsourced statements from August 2010, Rfam ... Most bacterial SRPs are composed of SRP RNA and SRP54 (also named Ffh for "Fifty-four homolog"). The Archaeal SRP contains ... The eukaryotic SRP consists of a 300-nucleotide 7S RNA and six proteins: SRPs 72, 68, 54, 19, 14, and 9. Archaeal SRP consists ...
This creates quite dynamic genomes, in which DNA can be introduced into and removed from the chromosome. Bacteria have more ... 24% of Thermotoga's 1,877 ORFs and 16% of Aquifex's 1,512 ORFs show high matches to an Archaeal protein, while mesophiles such ... Right now, we have genome sequences from 50 different bacterial phyla and 11 different archaeal phyla. Second-generation ... Conjugation may mediate the transfer of chromosomal sequences by plasmids that integrate into the chromosome. Despite the ...
... to drive selection in an early archaeal lineage towards eukaryosis. This archaeal ancestor may already have had DNA repair ... cytoskeleton-mediated chromosome movements and emergence of the nuclear membrane. Thus the evolution of eukaryotic sex and ... The detrimental effects of internal ROS (produced by endosymbiont proto-mitochondria) on the archaeal genome could have ... and that this selective pressure drove the evolutionary transformation of an archaeal lineage into the first eukaryotes. ...
In the evolution of sexual reproduction and origin of the sex chromosome: Mammals, females have two copies of the X chromosome ... Extremely halophile archaeal family Halobacteriaceae and the extremely halophilic bacterium Salinibacter ruber both can live in ... with males have two copies of the Z chromosome (ZZ) and females have one copy of the Z and one copy of the W chromosome (ZW). ... XX) and males have one copy of the X and one copy of the Y chromosome (XY). In birds it is the opposite, ...
These findings suggest that eukaryotic Rad50 may be descended from an ancestral archaeal Rad50 protein that served a role in ... Rad50 is a member of the structural maintenance of chromosomes (SMC) family of proteins. Like other SMC proteins, Rad50 ... Stracker TH, Theunissen JW, Morales M, Petrini JH (2005). "The Mre11 complex and the metabolism of chromosome breaks: the ... Cells from these patients showed increased radiosensitity with an impaired response to chromosome breaks. MRN complex ...
... for chromosome condensation; and to disentangle intertwined DNA during mitosis. This domain assumes a beta(2)-alpha-beta-alpha- ... bacterial and archaeal topoisomerase I, topoisomerase III and reverse gyrase) and type IB (eukaryotic topoisomerase I and ... separating the DNA of daughter chromosomes after DNA replication, and relax DNA. These enzymes have several functions: to ...
In P2's genome, the genes related to chromosome replication were likewise found to be more related to those in eukaryotes. ... Sediments from ~90m below the seafloor on the Peruvian continental margin are dominated by intact archaeal tetraethers, and a ... Another sequenced species, S. tokodaii has a circular chromosome as well but is slightly smaller with 2,694,756 bp. Both ... 7 (2,694,756 nucleotides). The archaeon Sulfolobus solfataricus has a circular chromosome that consists of 2,992,245 bp. ...
It is encoded by the TFIIB gene, and is homologous to archaeal transcription factor B and analogous to bacterial sigma factors ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, Molecular genetics, Proteins ... Burton SP, Burton ZF (2014). "The σ enigma: bacterial σ factors, archaeal TFB and eukaryotic TFIIB are homologs". Transcription ...
The archaeal proteins used in these processes are extremely similar to Eukaryotic proteins and so are studied primarily as a ... The genome of H. volcanii consists of a large (4 Mb), multicopy chromosome and several megaplasmids. The complete genome of the ... containing two different chromosomes in one cell). Cells of a related species, Haloferax mediterranei, can similarly undergo ... "CetZ tubulin-like proteins control archaeal cell shape". Nature. Springer Science and Business Media LLC. 519 (7543): 362-365. ...
Thus, the entire chromosome, i.e. chromatin in eukaryotes consists of such nucleoproteins. In eukaryotic cells, DNA is ... Seitz EM, Brockman JP, Sandler SJ, Clark AJ, Kowalczykowski SC (1998). "RadA protein is an archaeal RecA protein homolog that ... The proteins combined with DNA are histones and protamines; the resulting nucleoproteins are located in chromosomes. ...
Its genome, sequenced in 2008, consists of two chromosomes (one 2.74 Mb and the other 0.53 Mb) and one plasmid (0.43 Mb). Its β ... Ihara K, Umemura T, Katagiri I, Kitajima-Ihara T, Sugiyama Y, Kimura Y, Mukohata Y (January 1999). "Evolution of the archaeal ... archaeal, and eukaryal diversity in the intestines of Korean people". Journal of Microbiology. 46 (5): 491-501. doi:10.1007/ ...
Guy L, Ettema TJ (2011). "The archaeal 'TACK' superphylum and the origin of eukaryotes". Trends Microbiol. 19 (12): 580-7. doi: ... C content of bacterial chromosomes by monitoring fluorescence intensity during DNA denaturation in a capillary tube". Int. J. ... Barns, SM; Fundyga RE; Jeffries MW; Pace NR (1994). "Remarkable archaeal diversity detected in a Yellowstone National Park hot ... Korarchaeota is regarded as a phylum, which itself is part of the archaeal TACK superphylum which encompasses Thaumarchaeota ( ...
Mura C, Katz JE, Clarke SG, Eisenberg D (March 2003). "Structure and function of an archaeal homolog of survival protein E ( ... "A new gene involved in stationary-phase survival located at 59 minutes on the Escherichia coli chromosome". J Bacteriol. 176 ( ...
v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 8, All stub ... "The cutting edge of archaeal transcription". Emerging Topics in Life Sciences. 2 (4): 517-533. doi:10.1042/ETLS20180014. PMC ... maps to human chromosome 3p22 --> p21.3". Genomics. 36 (1): 185-8. doi:10.1006/geno.1996.0443. PMID 8812434. Park H, Baek K, ...
Liu C, Feng C, Peng W, Hao J, Wang J, Pan J, He Y (December 2020). "Chromosome-level draft genome of a diploid plum (Prunus ... List of sequenced eukaryotic genomes List of sequenced animal genomes List of sequenced archaeal genomes List of sequenced ... July 2021). "Chromosome-level reference genome of the soursop (Annona muricata): A new resource for Magnoliid research and ... Xi H, Nguyen V, Ward C, Liu Z, Searle IR (2022-01-31). "Chromosome-level assembly of the common vetch (Vicia sativa) reference ...
... s have 40 chromosomes, while European beavers have 48. Also, more than 27 attempts were made in Russia to ... Gruninger, Robert J.; McAllister, Tim A.; Forster, Robert J. (May 26, 2016). "Bacterial and Archaeal Diversity in the ...
Genes on human chromosome 2, Genes on human chromosome 7, EC 1.1.1, Enzymes of known structure, Cellular respiration). ... The amino acid sequences of archaeal MDH are more similar to that of LDH than that of MDH of other organisms. This indicates ...
Sgouros J, Gaillard PH, Wood RD (Mar 1999). "A relationship between a DNA-repair/recombination nuclease family and archaeal ... Genes on human chromosome 16, Wikipedia articles with corresponding academic peer reviewed articles, Wikipedia articles with ... "Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair". PLOS Genetics. 4 (6): e1000110. ...
Genes on human chromosome 14, Genes on human chromosome 1, Moonlighting proteins). ... while X-ray crystallography studies of an archaeal homolog, as well as cryo-electron microscopy of the human gamma-secretase ... Vertebrates have two presenilin genes, called PSEN1 (located on chromosome 14 in humans) that codes for presenilin 1 (PS-1) and ... August 1995). "Candidate gene for the chromosome 1 familial Alzheimer's disease locus". Science. 269 (5226): 973-7. Bibcode: ...
... cytoskeleton-mediated chromosome movements and emergence of the nuclear membrane. Thus, the evolution of meiotic sex and ... the selective pressure of oxidative stress is thought to have driven the evolutionary transformation of an archaeal lineage ...
Other aspects of archaeal biochemistry are unique, such as their reliance on ether lipids in their cell membranes, such as ... Flagellum Nucleoid region Chromosome (DNA) Ribosome Cell membrane Cell wall Capsule Pili Marine prokaryotes are marine bacteria ... Archaeal cells have unique properties separating them from the other two domains of life, Bacteria and Eukaryota. The Archaea ... The archaeal-like rhodopsins have subsequently been found among different taxa, protists as well as in bacteria and archaea, ...
Bell SD (2012). "Archaeal orc1/cdc6 proteins". The Eukaryotic Replisome: A Guide to Protein Structure and Function. Subcellular ... ARSs are found distributed across 16 chromosomes, repeated every 30-40 kb. Between species, these ARS sequences are variable, ...
NAA11 is located on chromosome 4q21.21 in human and 5 E3 in mouse, and only contains two exons. Mice have another Naa10-like ... The X-ray crystal structure of archaeal T. volcanium Naa10 has also been reported, revealing multiple distinct modes of acetyl- ... In mouse, NAA10 is located on chromosome X A7.3 and contains 9 exons. Two alternative splicing products of mouse Naa10, ... The human NAA10 is located on chromosome Xq28 and contains 8 exons, 2 encoding three different isoforms derived from alternate ...
Lewis, Raymond J. (January 1996). "Chromosomes of the brown algae". Phycologia. 35 (1): 19-40. doi:10.2216/i0031-8884-35-1-19.1 ... Margulis, L (6 February 1996). "Archaeal-eubacterial mergers in the origin of Eukarya: phylogenetic classification of life". ... he saw these as processes within the germ line cells that were capable of restoring the integrity of DNA and chromosomes from ... Cells in a haploid part of the plant spontaneously duplicate their chromosomes to produce diploid tissue. Parasites depend on ...
Helicase Saci-0814 is classified as an aLhr1 (archaeal long helicase related 1) under superfamily 2 helicases, and its homologs ... following the exchange of two single strands of DNA between two homologous chromosomes. The process is random, and the branch ...
All of subgroup 2 is organized into a head to tail cluster of chromosomes on chromosome 17q24. Genes in this second subgroup ... Classification of ABC transporters in TCDB ABCdb Archaeal and Bacterial ABC Systems database, ABCdb ATP-Binding+cassette+ ... Also, the ABCA4 maps to a region of chromosome 1p21 that contains the gene for Stargardt's disease. This gene is found to be ... The first subgroup consists of seven genes that map to six different chromosomes. These are ABCA1, ABCA2, ABCA3, and ABCA4, ...
For example, one study of orphan genes across 119 archaeal and bacterial genomes could identify that at least 56% were recently ... Lents and colleagues recently reported the existence of several young microRNA genes on human chromosome 21. The duplication ... "A hidden reservoir of integrative elements is the major source of recently acquired foreign genes and ORFans in archaeal and ... "The evolution of de novo human-specific microRNA genes on chromosome 21". American Journal of Biological Anthropology. 178 (2 ...
Anderson JC, Schultz PG (August 2003). "Adaptation of an orthogonal archaeal leucyl-tRNA and synthetase pair for four-base, ... July 2011). "Precise manipulation of chromosomes in vivo enables genome-wide codon replacement". Science. 333 (6040): 348-53. ... This was possible because of the differences between the endogenous bacterial synthases and the orthologous archaeal synthase, ...
Previously described mRNA, protein and chromosome sequences have the weaknesses of not providing explicit genomic coordinates ... analysis Sequence profiling tool Sequence motif UniProt List of sequenced eukaryotic genomes List of sequenced archaeal genomes ...
The NCBI Prokaryotic Genome Annotation Pipeline (PGAP) is designed to annotate bacterial and archaeal genomes (chromosomes and ... for the de novo assembly and gene annotation of public or private Illumina genomic reads sequenced from bacterial or archaeal ...
SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type. * XM_024449314.2 → XP_024305082.1 progesterone-induced ... SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type. * XM_047430049.1 → XP_047286005.1 progesterone-induced ... SMC_prok_B; chromosome segregation protein SMC, common bacterial type. TIGR02169. Location:32 → 355. SMC_prok_A; chromosome ... Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]. * XM_047430050.1 → XP_ ...
Chromosomes, Archaeal Preferred Concept UI. M0029457. Scope Note. Structures within the nucleus of archaeal cells consisting of ... Chromosomes, Archaeal Preferred Term Term UI T059051. Date01/01/1999. LexicalTag NON. ThesaurusID NLM (1998). ... Chromosomes, Archaeal. Tree Number(s). A11.284.187.167. G05.360.162.167. Unique ID. D019847. RDF Unique Identifier. http://id. ... Chromosomes, Bacterial (1989-1997). Public MeSH Note. 98. History Note. 98. Date Established. 1998/01/01. Date of Entry. 1997/ ...
Abstract: Structural maintenance of chromosomes (SMC) proteins have diverse cellular functions including chromosome segregation ... The eukaryotic complexes were similar to each other and differed from their prokaryotic and archaeal homologs. These ... similarities and differences are discussed with respect to their diverse mechanistic roles in chromosome metabolism. ...
The genome of strain IOH2T was assembled as a circular chromosome of 1 946 249 bp and predicted 2096 genes. The DNA G+C content ... nov., an arginine biosynthesis archaeal species isolated from the Central Indian Ocean ridge Yeong-Jun Park 1 2 , Jae Kyu Lim 1 ... nov., an arginine biosynthesis archaeal species isolated from the Central Indian Ocean ridge Yeong-Jun Park et al. Int J Syst ...
CRISPRs and associated cas genes are present in many other bacterial (≈40%) and archaeal (≈90%) genomes (28,29) and have been ... Schematic of the novel staphylococcal cassette chromosome (SCC) mecV subtype and DNA sequence of the clustered regularly ... Novel multiplex PCR assay for characterization and concomitant subtyping of staphylococcal cassette chromosome mec types I to V ... Schematic of the novel staphylococcal cassette chromosome (SCC) mecV subtype and DNA sequence of the clustered regularly ...
Chromosomes, Archaeal Preferred Concept UI. M0029457. Scope Note. Structures within the nucleus of archaeal cells consisting of ... Chromosomes, Archaeal Preferred Term Term UI T059051. Date01/01/1999. LexicalTag NON. ThesaurusID NLM (1998). ... Chromosomes, Archaeal. Tree Number(s). A11.284.187.167. G05.360.162.167. Unique ID. D019847. RDF Unique Identifier. http://id. ... Chromosomes, Bacterial (1989-1997). Public MeSH Note. 98. History Note. 98. Date Established. 1998/01/01. Date of Entry. 1997/ ...
Chromosomes, Archaeal - Preferred Concept UI. M0029457. Scope note. Structures within the nucleus of archaeal cells consisting ... Chromosomes darchéobactérie Entry term(s):. Archaeal Chromosome. Archaeal Chromosomes. Chromosome, Archaeal. Tree number(s):. ... Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to ...
These findings contribute a novel mechanistic perspective on archaeal chromosome segregation.. Assuntos. Proteínas Arqueais/ ... Chromosome partitioning remains obscure in Archaea, the third domain of life. Here, we investigated the SegAB system from ... Chromosome segregation in Archaea: SegA- and SegB-DNA complex structures provide insights into segrosome assembly. ... ParABS, an important DNA partitioning process in chromosome segregation, includes ParA (an ATPase), ParB (a parS binding ...
Chromosomes / genetics Actions. * Search in PubMed * Search in MeSH * Add to Search ... Genome, Archaeal Actions. * Search in PubMed * Search in MeSH * Add to Search ...
A new chromatin flavor to cap chromosomes: Where structure, function, and evolution meet. Mandemaker, I. K. & Mattiroli, F., 17 ... Archaeal DNA Medicine & Life Sciences 36% * Chromatin Assembly Factor-1 Medicine & Life Sciences 35% ...
Archaeal flagella function like their bacterial counterparts, with elongated stalks driven by rotatory motors at the base. The ... In some cases more than two daughter chromosomes can be created and subsequently pull apart, in a process called multiple ... However, archaeal and bacterial flagella came from different ancestors. The bacterial flagellum is hollow and is assembled by ... Archael chromosomes replicate from multiple origins of replication, using DNA polymerases that resemble counterpart eukaryotic ...
Genome size-smallest parasitic archaeal genome. Archaea Nanoarchaeum equitans. ID: 105503 Genome size. ... Genome size of chromosome of strain S0385 (livestock-associated MRSA). Value. 2.87e+6 bp Range: Table - link bp ... The MRSA [methicillin-resistant Staphylococcus aureus] ST398 genome consists of a circular chromosome of 2,872,582 bp, as well ... as 3 circular plasmids [sizes of plasmids 1-3 are 5,246bp, 4,381bp and 3,158bp, respectively]. The size of the chromosome is ...
q] In the diagram below, which arrow shows the acquisition of a bacterial cell by an archaeal cell that led to mitochondria.. ... Our DNA is organized into multiple chromosomes, and housed in a nucleus thats separated from the cytoplasm by a nuclear ... In this model, a bacterial cell (shown at 2) entered into an archaeal cell (at 1). Once inside, the bacterial cell (now a proto ... The outer membrane is a vestige of the membrane of the archaeal cell that engulfed the bacterial cells that later became ...
Female XX sex chromosomes increase survival and extend lifespan in aging will therefore not only expand our knowledge of this ... This thus resulted in males with an increased investment into sperm and ejaculate traits in archaeal 4ME diether G1PC and ... Genomic evidence that sexual selection in the chromosome (x axis) advair inhaler price canada. F, Manchester JK, Semenkovich CF ... Numerical values of CF fluorescence in individual vesicles made of archaeal membrane transporters associated with diversity and ...
System analysis of synonymous codon usage biases in archaeal virus genomes.. Li S; Yang J. J Theor Biol; 2014 Aug; 355():128-39 ... Gene expression, nucleotide composition and codon usage bias of genes associated with human Y chromosome.. Choudhury MN; Uddin ...
Annot: the percentage of sequences within a core archaeal-type membrane chemistry. Female XX sex chromosomes increase survival ... Archaeal 4ME diether G1PC vesicles and (B) leucine (filled squares) or aspartic acid (open squares) to bacterial RNA polymerase ...
The genome of the crenarchaeon Sulfolobus solfataricus P2 contains 2,992,245 bp on a single chromosome and encodes 2,977 ... Moreover, 40% appear to be archaeal-specific, and only 12% and 2.3% are shared exclusively with bacteria and eukarya, ... show a strong eukaryal character with many archaeal-specific features. The results illustrate major differences between ...
G5.105.235 Chromosome Structures G14.160 Chromosomes G14.162 Chromosomes, Archaeal G14.162.167 Chromosomes, Artificial G14.162. ... G14.162.360.800 Chromosomes, Bacterial G14.162.190 Chromosomes, Fungal G14.162.360 Chromosomes, Human A11.284.187.480 A11.284. ... G14.162.520.300.460 Chromosomes, Human, 21-22 and Y A11.284.187.480.505 A11.284.187.520.300.505 G14.162.520.300.505 Chromosomes ... G13.920.590.175 Chromosome Breakage G5.148.175.170 C21.111.99 G5.180.99 G13.920.590.175.175 Chromosome Deletion G5.148.175.175 ...
I used as a test set the genes annotated on chromosome two of V. cholerae. This chromosome contains an integron island of size ... Garcia-Vallvé S, Romeu A, Palau J: Horizontal gene transfer in bacterial and archaeal complete genomes. Genome Res 2000, 10: ... Nesbø CL, LHaridon S, Stetter KO, Doolittle WF: Phylogenetic analyses of two "archaeal" genes in Thermotoga maritima reveal ... The cut-off for round one was always set to 0.025, a value deduced from the analysis of chromosome two of V. cholerae (see ...
He is an internationally renowned leader in the field of chromosome biology, where he has made seminal discoveries into the ... His lab routinely produces data that has helped scientists understand the origins of life, with his work on archaeal DNA ... cellular machineries responsible for gene regulation, DNA and chromosome replication of organisms living in extreme conditions ...
Shah, Riddhi (2014). Functional analysis of Group 2 chaperonins from archaeal species in E. coli. University of Birmingham. Ph. ... Sellars, Laura (2014). Bacterial chromosome organisation and transcription. University of Birmingham. Ph.D. ... Lambing, Christophe (2014). Investigating the interplay between chromosome axes and homologous recombination in arabidopsis ...
Female XX sex chromosomes increase survival and extend lifespan in aging will therefore not only expand our knowledge of this ... Structural determinants of archaeal transporter repertoires in Archaea and bacterial diester G3PE-PG-CA, 4ME diether G1PC ... Female XX sex chromosomes increase survival and extend lifespan in aging individuals and singulair allergy medicine price are ... Novel bile acid biosynthetic pathways are enriched for the Care and Use Committee (IACUC) protocol 00059 of the archaeal lipid ...
You are going to remove permissions for the following user to your project, biosample and study ...
The sequencing of eubacterial, archaeal, and plant genomes are more appropriate to the missions of other components of the NIH ... the bacterial artificial chromosome (BAC) has emerged as the vector system of choice for the construction of the large- insert ...
Bacterial and archaeal metabolism. Many important metabolic processes arose in bacteria and archaea, and some of these, such as ... Chromosomes, each consisting of a linear DNA molecule coiled around basic (alkaline) proteins called histones. The few ... Mitosis, a process of nuclear division wherein replicated chromosomes are divided and separated using elements of the ... Archaeal_Diversity* : property get [Map MindTouch.Deki.Logic.ExtensionProcessorQueryProvider+,,c__DisplayClass228_0., ...
However, we realised that we could also apply this technology to any cell type and decided to investigate an archaeal species ... Kent in the Cardiff School of Biosciences has discovered that the mechanism used by human cells to package DNA into chromosomes ...
The cell elongates, replicates its chromosome, and separates the chromosome into the two parts of the cell, and a septum forms ... Which of the following statements about archaeal plasma membranes is TRUE?. A. The plasma membrane is always a lipid bilayer ... The site at which replication is terminated, located opposite of the origin on a bacterial chromosome ... A feature unique to some archaeal plasma membranes is that they may ...
  • The NCBI Prokaryotic Genome Annotation Pipeline (PGAP) is designed to annotate bacterial and archaeal genomes (chromosomes and plasmids). (nih.gov)
  • 11. System analysis of synonymous codon usage biases in archaeal virus genomes. (nih.gov)
  • The sequencing of eubacterial, archaeal, and plant genomes are more appropriate to the missions of other components of the NIH and/or other agencies. (nih.gov)
  • The MRSA [methicillin-resistant Staphylococcus aureus] ST398 genome consists of a circular chromosome of 2,872,582 bp, as well as 3 circular plasmids [sizes of plasmids 1-3 are 5,246bp, 4,381bp and 3,158bp, respectively]. (harvard.edu)
  • Multiple molecular mechanisms responsible for the reduced carbon flow through lower glycolysis and aerobic respiration mutants to peroxide stress is likely dependent on sperm phenotype and genome evolution roots the archaeal or bacterial diester G3PE-PG-CA lipids or bacterial. (crystalknowsbeauty.com)
  • OPPORTUNITY TO PROPOSE ORGANISMS FOR BAC LIBRARY CONSTRUCTION Release Date: December 19, 2001 NOTICE: NOT-HG-02-004 National Human Genome Research Institute Annual Submission Dates: February 10, June 10 and October 10 Over the past several years, the bacterial artificial chromosome (BAC) has emerged as the vector system of choice for the construction of the large- insert chromosomal DNA libraries that are needed in genomic studies. (nih.gov)
  • For humans, the genome is all of a person's chromosomes. (github.io)
  • The adeno-associated virus (AAV) is a small parvovirus that is able to integrate its genome site-specifically into human chromosome 19. (nih.gov)
  • Chromosome partitioning remains obscure in Archaea, the third domain of life. (bvsalud.org)
  • Structural determinants of archaeal transporter repertoires in Archaea and bacterial diester G3PE-PG-CA, 4ME diether G1PC singulair allergy medicine price lipid 1,2-di-O-phytanyl-sn-glycero-1-phosphocholine (i. (crystalknowsbeauty.com)
  • Numerical values of CF fluorescence in individual vesicles made of archaeal membrane transporters associated with diversity and profiles of human germline mutation. (oaklanddevelopments.org)
  • In contrast, PTS system- and phosphate transport-encoding genes were up-regulated in response to increased male investment in sperm competition and ejaculate traits in archaeal 4ME diether G1PC and bacterial diester G3PE-PG-CA vesicles, respectively). (crystalknowsbeauty.com)
  • Interestingly, the difference in CF fluorescence as a reporter for relative permeability to urea, glycine, ribose, deoxyribose, glycerol, and phosphonate in vesicles made of archaeal 36-membered macrocyclic diether lipid. (borthbeachhouse.uk)
  • These similarities and differences are discussed with respect to their diverse mechanistic roles in chromosome metabolism. (nih.gov)
  • These findings contribute a novel mechanistic perspective on archaeal chromosome segregation. (bvsalud.org)
  • However, we realised that we could also apply this technology to any cell type and decided to investigate an archaeal species that grows in volcanic springs on the island of Kodakara in Japan. (cardiff.ac.uk)
  • Structural maintenance of chromosomes (SMC) proteins have diverse cellular functions including chromosome segregation, condensation and DNA repair. (nih.gov)
  • ParABS, an important DNA partitioning process in chromosome segregation, includes ParA (an ATPase), ParB (a parS binding protein) and parS (a centromere-like DNA). (bvsalud.org)
  • Bilde T, Foged A, Schilling keflex 500mg priceline N, Arnqvist G. Identification of putative archaeal transporters not identified by the solubility-diffusion mechanism https://www.east.ru/keflex-discount/ . (borthbeachhouse.uk)
  • This thus resulted in males with an increased investment into sperm and ejaculate traits in archaeal 4ME diether G1PC and bacterial membranes. (oaklanddevelopments.org)
  • Based on structural comparisons, HpSoj exhibits a similar DNA binding surface to the bacterial ParA superfamily, but the archaeal ParA superfamily exhibits distinct non-specific DNA-binding via two DNA-binding sites. (bvsalud.org)
  • Biochemical and structural studies reveal significant functional similarities among bacterial, archaeal, and eukaryotic RNA polymerases. (nih.gov)
  • The Read Assembly and Annotation Pipeline Tool (RAPT) is an easy-to-use pilot service for the de novo assembly and gene annotation of public or private Illumina genomic reads sequenced from bacterial or archaeal isolates. (nih.gov)
  • Further molecular characterization determined that these isolates all contained staphylococcal cassette chromosome (SCC) mec V, were negative for Panton-Valentine leukocidin, and were closely related by macrorestriction analysis with the restriction enzyme Cfr91 . (cdc.gov)
  • The eukaryotic complexes were similar to each other and differed from their prokaryotic and archaeal homologs. (nih.gov)
  • In summary, it seems clear that the eukaryotic cell was born by merging an archaeal cell with a Gram-negative proteobacteria. (microbiologytext.com)
  • He is an internationally renowned leader in the field of chromosome biology, where he has made seminal discoveries into the cellular machineries responsible for gene regulation, DNA and chromosome replication of organisms living in extreme conditions. (iu.edu)
  • Structures within the nucleus of archaeal cells consisting of or containing DNA , which carry genetic information essential to the cell. (nih.gov)
  • Our DNA is organized into multiple chromosomes, and housed in a nucleus that's separated from the cytoplasm by a nuclear membrane. (learn-biology.com)
  • We also identified a novel staphylococcal cassette chromosome (SCC) mec V subtype harboring clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated genes ( cas ). (cdc.gov)
  • 12. Gene expression, nucleotide composition and codon usage bias of genes associated with human Y chromosome. (nih.gov)
  • And here's a representation of a chromosome, strands, and genes on the chromosome. (github.io)
  • To answer this question we need to know where genes start and stop on human chromosomes. (github.io)
  • Both mitochondria and chloroplasts contain DNA that resembles the chromosomes of bacteria. (microbiologytext.com)
  • Genomic evidence that sexual selection in the chromosome (x axis) advair inhaler price canada. (oaklanddevelopments.org)
  • Electron microscopy results also provide a compact ring-like segrosome structure related to chromosome organization. (bvsalud.org)
  • At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair. (genesilico.pl)
  • Bacteria have circular chromosomes. (github.io)
  • An international collaboration including researchers from Osaka, Kyoto and Exeter Universities, led by Dr Nicholas Kent in the Cardiff School of Biosciences has discovered that the mechanism used by human cells to package DNA into chromosomes is evolutionarily ancient and also occurs in bacteria-like cells growing in volcanic springs. (cardiff.ac.uk)
  • May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. (genesilico.pl)
  • The size of the chromosome is comparable to that of other sequenced S. aureus strains. (harvard.edu)
  • A temperate coliphage, in the genus Mu-like viruses, family MYOVIRIDAE, composed of a linear, double-stranded molecule of DNA, which is able to insert itself randomly at any point on the host chromosome. (lookformedical.com)
  • This is an important step in the Salmonella chromosome participate in bacterial pathogenesis. (borthbeachhouse.uk)