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)
Any method used for determining the location of and relative distances between genes on a chromosome.
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.
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.
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.
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.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
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)
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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.
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 D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
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 co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
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.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Aberrant chromosomes with no ends, i.e., circular.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
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 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.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
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.
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 phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
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.
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.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
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.
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 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).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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.
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)
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.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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.
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.
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.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
A 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.
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.
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.
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 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.
Genetic loci associated with a QUANTITATIVE TRAIT.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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 aberration in which an extra chromosome or a chromosomal segment is made.
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.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
An individual having different alleles at one or more loci regarding a specific character.
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 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)
Genotypic differences observed among individuals in a population.
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 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.
The process by which a DNA molecule is duplicated.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
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.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
The 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.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
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.
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 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 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).
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 species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The 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)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
The relationships of groups of organisms as reflected by their genetic makeup.
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.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
A 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.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
Established cell cultures that have the potential to propagate indefinitely.
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.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
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.)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
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).
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
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.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Genes that influence the PHENOTYPE only in the homozygous state.
The functional hereditary units of BACTERIA.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
An individual in which both alleles at a given locus are identical.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The degree of replication of the chromosome set in the karyotype.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
The genetic complement of a plant (PLANTS) as represented in its DNA.
Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Deoxyribonucleic acid that makes up the genetic material of fungi.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
DNA present in neoplastic tissue.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Deoxyribonucleic acid that makes up the genetic material of plants.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Proteins found in any species of bacterium.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Genes that are located on the Y CHROMOSOME.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The mechanisms by which the SEX of an individual's GONADS are fixed.
Deletion of sequences of nucleic acids from the genetic material of an individual.

A sequence-ready BAC clone contig of a 2.2-Mb segment of human chromosome 1q24. (1/1666)

Human chromosomal region 1q24 encodes two cloned disease genes and lies within large genetic inclusion intervals for several disease genes that have yet to be identified. We have constructed a single bacterial artificial chromosome (BAC) clone contig that spans over 2 Mb of 1q24 and consists of 78 clones connected by 100 STSs. The average density of mapped STSs is one of the highest described for a multimegabase region of the human genome. The contig was efficiently constructed by generating STSs from clone ends, followed by library walking. Distance information was added by determining the insert sizes of all clones, and expressed sequence tags (ESTs) and genes were incorporated to create a partial transcript map of the region, providing candidate genes for local disease loci. The gene order and content of the region provide insight into ancient duplication events that have occurred on proximal 1q. The stage is now set for further elucidation of this interesting region through large-scale sequencing.  (+info)

p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (2/1666)

p73, a novel p53 family member, is a recently identified candidate neuroblastoma (NBL) suppressor gene mapped at chromosome 1p36.33 and was found to inhibit growth and induce apoptosis in cell lines. To test the hypothesis that p73 is a NBL suppressor gene, we analysed the p73 gene in primary human NBLs. Loss of heterozygosity (LOH) for p73 was observed in 19% (28/151) of informative cases which included 92 mass-screening (MS) tumors. The high frequency of p73 LOH was significantly associated with sporadic NBLs (9% vs 34%, P<0.001), N-myc amplification (10% vs 71%, P<0.001), and advanced stage (14% vs 28%, P<0.05). Both p73alpha and p73beta transcripts were detectable in only 46 of 134 (34%) NBLs at low levels by RT-PCR methods, while they were easily detectable in most breast cancers and colorectal cancers under the same conditions. They found no correlation between p73 LOH and its expression levels (P>0.1). We found two mutations out of 140 NBLs, one somatic and one germline, which result in amino acid substitutions in the C-terminal region of p73 which may affect transactivation functions, though, in the same tumor samples, no mutation of the p53 gene was observed as reported previously. These results suggest that allelic loss of the p73 gene may be a later event in NBL tumorigenesis. However, p73 is infrequently mutated in primary NBLs and may hardly function as a tumor suppressor in a classic Knudson's manner.  (+info)

Homozygosity mapping to the USH2A locus in two isolated populations. (3/1666)

Usher syndrome is a group of autosomal recessive disorders characterised by progressive visual loss from retinitis pigmentosa and moderate to severe sensorineural hearing loss. Usher syndrome is estimated to account for 6-10% of all congenital sensorineural hearing loss. A gene locus in Usher type II (USH2) families has been assigned to a small region on chromosome 1q41 called the UHS2A locus. We have investigated two families with Usher syndrome from different isolated populations. One family is a Norwegian Saami family and the second family is from the Cayman Islands. They both come from relatively isolated populations and are inbred families suitable for linkage analysis. A lod score of 3.09 and 7.65 at zero recombination was reached respectively in the two families with two point linkage analysis to the USH2A locus on 1q41. Additional homozygosity mapping of the affected subjects concluded with a candidate region of 6.1 Mb. This region spans the previously published candidate region in USH2A. Our study emphasises that the mapped gene for USH2 is also involved in patients from other populations and will have implications for future mutation analysis once the USH2A gene is cloned.  (+info)

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. (4/1666)

Members of the transforming growth factor (TGF)-beta family of cell-signaling molecules have been implicated recently in mammalian left-right (LR) axis development, the process by which vertebrates lateralize unpaired organs (e.g., heart, stomach, and spleen). Two family members, Lefty1 and Lefty2, are expressed exclusively on the left side of the mouse embryo by 8.0 days post coitum. This asymmetry is lost or reversed in two murine models of abnormal LR-axis specification, inversus viscerum (iv) and inversion of embryonic turning (inv). Furthermore, mice homozygous for a Lefty1 null allele manifest LR malformations and misexpress Lefty2. We hypothesized that Lefty mutations may be associated with human LR-axis malformations. We now report characterization of two Lefty homologues, LEFTY A and LEFTY B, separated by approximately 50 kb on chromosome 1q42. Each comprises four exons spliced at identical positions. LEFTY A is identical to ebaf, a cDNA previously identified in a search for genes expressed in human endometrium. The deduced amino acid sequences of LEFTY A and LEFTY B are more similar to each other than to Lefty1 or Lefty2. Analysis of 126 human cases of LR-axis malformations showed one nonsense and one missense mutation in LEFTY A. Both mutations lie in the cysteine-knot region of the protein LEFTY A, and the phenotype of affected individuals is very similar to that typically seen in Lefty1-/- mice with LR-axis malformations.  (+info)

Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. (5/1666)

Combining data from a genomic screen in 70 families with a high risk for prostate cancer (PC) with data from candidate-region mapping in these families and an additional 71 families, we have localized a potential hereditary PC-susceptibility locus to chromosome 1p36. Because an excess of cases of primary brain cancer (BC) have been observed in some studies of families with a high risk for PC, and because loss of heterozygosity at 1p36 is frequently observed in BC, we further evaluated 12 families with both a history of PC and a blood relative with primary BC. The overall LOD score in these 12 families was 3.22 at a recombination fraction (theta) of .06, with marker D1S507. On the basis of an a priori hypothesis, this group was stratified by age at diagnosis of PC. In the younger age group (mean age at diagnosis <66 years), a maximum two-point LOD score of 3.65 at straight theta = .0 was observed, with D1S407. This linkage was rejected in both early- and late-onset families without a history of BC (LOD scores -7.12 and -6.03, respectively, at straight theta = .0). After exclusion of 3 of the 12 families that had better evidence of linkage to previously described PC-susceptibility loci, linkage to the 1p36 region was suggested by a two-point LOD score of 4.74 at straight theta = .0, with marker D1S407. We conclude that a significant proportion of these families with both a high risk for PC and a family member with BC show linkage to the 1p36 region.  (+info)

Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. (6/1666)

It is usually difficult to localize genes that cause diseases with late ages at onset. These diseases frequently exhibit complex modes of inheritance, and only recent generations are available to be genotyped and phenotyped. In this situation, multipoint analysis using traditional exact linkage analysis methods, with many markers and full pedigree information, is a computationally intractable problem. Fortunately, Monte Carlo Markov chain sampling provides a tool to address this issue. By treating age at onset as a right-censored quantitative trait, we expand the methods used by Heath (1997) and illustrate them using an Alzheimer disease (AD) data set. This approach estimates the number, sizes, allele frequencies, and positions of quantitative trait loci (QTLs). In this simultaneous multipoint linkage and segregation analysis method, the QTLs are assumed to be diallelic and to interact additively. In the AD data set, we were able to localize correctly, quickly, and accurately two known genes, despite the existence of substantial genetic heterogeneity, thus demonstrating the great promise of these methods for the dissection of late-onset oligogenic diseases.  (+info)

Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (7/1666)

Protein tyrosine phosphatases act in conjunction with protein kinases to regulate the tyrosine phosphorylation events that control cell activation and differentiation. We have isolated a previously undescribed human phosphatase, Lyp, that encodes an intracellular 105-kD protein containing a single tyrosine phosphatase catalytic domain. The noncatalytic domain contains four proline-rich potential SH3 domain binding sites and an NXXY motif that, if phosphorylated, may be recognized by phosphotyrosine binding (PTB) domains. Comparison of the Lyp amino acid sequence with other known proteins shows 70% identity with the murine phosphatase PEP. The human Lyp gene was localized to chromosome 1p13 by fluorescence in situ hybridization analysis. We also identified an alternative spliced form of Lyp RNA, Lyp2. This isoform encodes a smaller 85-kD protein with an alternative C-terminus. The lyp phosphatases are predominantly expressed in lymphoid tissues and cells, with Lyp1 being highly expressed in thymocytes and both mature B and T cells. Increased Lyp1 expression can be induced by activation of resting peripheral T lymphocytes with phytohemagglutinin or anti-CD3. Lyp1 was found to be constitutively associated with the proto-oncogene c-Cbl in thymocytes and T cells. Overexpression of lyp1 reduces Cbl tyrosine phosphorylation, suggesting that it may be a substrate of the phosphatase. Thus, Lyp may play a role in regulating the function of Cbl and its associated protein kinases.  (+info)

Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. (8/1666)

Systemic lupus erythematosus (SLE) is the prototype of human autoimmune diseases. Its genetic component has been suggested by familial aggregation (lambdas = 20) and twin studies. We have screened the human genome to localize genetic intervals that may contain lupus susceptibility loci in a sample of 188 lupus patients belonging to 80 lupus families with two or more affected relatives per family using the ABI Prism linkage mapping set which includes 350 polymorphic markers with an average spacing of 12 cM. Non-parametric multipoint linkage analysis suggests evidence for predisposing loci on chromosomes 1 and 18. However, no single locus with overwhelming evidence for linkage was found, suggesting that there are no 'major' susceptibility genes segregating in families with SLE, and that the genetic etiology is more likely to result from the action of several genes of moderate effect. Furthermore, the support for a gene in the 1q44 region as well as in the 1p36 region is clearly found only in the Mexican American families with SLE but not in families of Caucasian ethnicity, suggesting that consideration of each ethnic group separately is crucial.  (+info)

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Stargardts disease (also called Stargardts macular degeneration or Stargardts macular dystrophy) is a rare inherited eye condition which affects the central area of the retina called the macula. It is also sometimes called fundus flavimaculatus. It affects about 1 in 10,000 people. Stargardts disease is sometimes called a juvenile macular dystrophy since it tends to first
Stargardts Disease is an inherited disease that affects the retina and usually becomes apparent between the ages of 8 and 14. Learn more about diagnosis and treatment at Boston Eye Group.
Doheny doctors treat patients with retinal disease daily; and we also work continuously with colleagues around the world to find ways to fight these diseases. I want to share a few insights about one of those important efforts -a study of Stargardts Disease called ProgStar, sponsored by the Foundation Fighting Blindness.. ProgStar uses data sets from all over the world to analyze images and eye exam results in a quest to understand the rate of progression of Stargardts disease and how it can best be thwarted or eliminated. The data allows us to evaluate, and to better understand, how quickly the retina is deteriorating and how that decline is affecting visual acuity.. I am happy to let you know the Doheny Image Reading Center is the reading center for all of the data collected in the ProgStar study. Our work at the DIRC is integral to this critical research, and the meaning is significant: with adequate data, the launch of studies to test and approve drugs to treat Stargardts is ...
As such, I feel absolutely fine. Its only while reading, I have to bring the book very close to my eyes. Even on the computer, I sit very close (8 or 9 inches from the screen). I also have problem recognizing people from a distance. Otherwise I drive regularly, but during night I find it to be problematic. But guess what, I am not 100% sure if I do have Stargardts Disease. When I was 18, I was told by a doctor that I had Stargardts Disease. What are the tests that I need to get done to confirm this, and how severe it is? Hoping that someone will help me out here.. [Directors Note: Please see this article and accompanying links for information about Stargardt disease.] Impact On Your Life ...
WHO IS AT RISK?. Age-related Macular degeneration (AMD) is usually considered to be an older persons disease and often begins in an asymptomatic form sometime around the age 50. As you age, the chances of incurring AMD or beginning to see the visual symptoms, increase. 25% of those 65+ have AMD; and, by the time you are 75+ there is a 35% chance you will be affected. (There is also a rare juvenile form of AMD, called Stargardts Disease.) A number of factors have been found to be related to AMD, including:. ...
immune Uncategorized Rabbit Polyclonal to Integrin beta1, Tariquidar Oligodendroglial tumors form a definite subgroup of gliomas, seen as a an improved response to treatment and long term overall survival. marks ICIV). Gliomas exhibiting oligodendroglial features consist of oligodendrogliomas (WHO quality II) and anaplastic oligodendrogliomas (WHO quality III) aswell as oligoastrocytomas (WHO quality II), anaplastic oligoastrocytomas (WHO quality III) and glioblastomas with an oligodendroglial component (GBMO, WHO quality IV) [1]. Oligodendroglial tumors take into account 15-20% of most gliomas [2,3]. The recognition from the genes targeted by full 1p/19q co-deletion, a quality of oligodendrogliomas, is a long-standing Tariquidar search. Combined lack of entire chromosome hands 1p and 19q may be the most frequently recognized hereditary imbalance in oligodendroglial tumors, happening in 60-90% of oligodendrogliomas and 30-50% of oligoastrocytomas while they may be rarely within GBMO [4-6]. The ...
TY - JOUR. T1 - Chromosome 1p loss evaluation in anaplastic oligodendrogliomas. AU - Idbaih, Ahmed. AU - Kouwenhoven, Mathilde. AU - Jeuken, Judith. AU - Carpentier, Catherine. AU - Gorlia, Thierry. AU - Kros, Johan M. AU - French, Pim. AU - Teepen, Johannes L. AU - Delattre, Olivier. AU - Delattre, Jean-Yves. AU - van den Bent, Martin. AU - Hoang-Xuan, Khê. PY - 2008/8. Y1 - 2008/8. N2 - The chromosome (chr) 1p deletion is a favorable biomarker in oligodendroglial tumors and is even more powerful a marker when combined with chr 19q loss. As a result, the 1p deletion is taken into account more and more in clinical trials and the management of patients. However, the laboratory technique implemented for detection of this biomarker has been a topic of debate. To illustrate the usefulness of evaluating multiple loci, we here report two anaplastic oligodendrogliomas that were investigated using fluorescent in situ hybridization (FISH) and bacterial artificial chromosome (BAC)-array-based comparative ...
TY - JOUR. T1 - Genetic and Epigenetic Alterations in Primary-Progressive Paired Oligodendroglial Tumors. AU - Kuo, Lu Ting. AU - Tsai, Shao Yu. AU - Chang, Cheng Chi. AU - Kuo, Kuang Ting. AU - Huang, Abel Po Hao. AU - Tsai, Jui Chang. AU - Tseng, Ham Min. AU - Kuo, Meng Fai. AU - Tu, Yong Kwang. PY - 2013/6/24. Y1 - 2013/6/24. N2 - The aim of the present study was to identify genetic and epigenetic alterations involved in the progression of oligodendroglial tumors. We characterized 21 paired, World Health Organization (WHO) grade II and III oligodendroglial tumors from patients who received craniotomies for the partial or complete resection of primary and secondary oligodendroglial tumors. Tumor DNA was analyzed for alterations in selected genetic loci (1p36, 9p22, 10q23-24, 17p13, 19q13, 22q12), isocitrate dehydrogenase 1 (IDH1), isocitrate dehydrogenase 2 (IDH2) and the CpG island methylation status of critical tumor-related genes (MGMT, P16, DAPK, PTEN, RASSF1A, Rb1). Alterations of these ...
PCAP(3) Library Functions Manual PCAP(3) NAME pcap - Packet Capture library SYNOPSIS #include ,pcap.h, char errbuf[PCAP_ERRBUF_SIZE]; pcap_t *pcap_open_live(const char *device, int snaplen, int promisc, int to_ms, char *errbuf) pcap_t *pcap_open_dead(int linktype, int snaplen) pcap_t *pcap_open_offline(const char *fname, char *errbuf) pcap_t *pcap_fopen_offline(FILE *fp, char *errbuf) pcap_dumper_t *pcap_dump_open(pcap_t *p, const char *fname) pcap_dumper_t *pcap_dump_fopen(pcap_t *p, FILE *fp) int pcap_setnonblock(pcap_t *p, int nonblock, char *errbuf); int pcap_getnonblock(pcap_t *p, char *errbuf); int pcap_findalldevs(pcap_if_t **alldevsp, char *errbuf) void pcap_freealldevs(pcap_if_t *alldevs) char *pcap_lookupdev(char *errbuf) int pcap_lookupnet(const char *device, bpf_u_int32 *netp, bpf_u_int32 *maskp, char *errbuf) typedef void (*pcap_handler)(u_char *user, const struct pcap_pkthdr *h, const u_char *bytes); int pcap_dispatch(pcap_t *p, int cnt, pcap_handler callback, u_char *user) int ...
The ZytoDot ® 2C SPEC 1p36/1q25 Probe is designed for the detection of 1p deletions by Chromogenic in situ Hybridization (CISH). Deletions affecting the short arm of chromosome 1 (1p) are frequently found in human gliomas and neuroblastomas, but also in breast, lung, endometrial, ovarian, and colorectal carcinomas. Loss of 1p is a strong prognostic factor in patients with neuroblastoma. Since loss of 1p reliably identifies patients at high risk in stages I, II, and IVS, which are otherwise clinically favorable, more aggressive therapy may be considered in these patients. Several studies showed correlation of combined allelic losses at 1p36 and 19q13 with oligodendroglioma histology and association with both chemotherapeutic response and survival in patients with anaplastic oligodendrogliomas. Hence, determination of 1p and 19q status may aid therapeutic decisions and predict outcome in patients with anaplastic oligodendrogliomas.
Dr. Jordi Monés and the full medical and healthcare team of the Institut de la Màcula have added their voices to World Rare Disease Day for another year in order to raise awareness and provide information about these pathologies.
La Barcelona Macula Foundation (BMF) se suma, un any més, al Dia Mundial de les Malalties Minoritàries, que té com a principals objectius sensibilitzar, formar i informar a la població sobre aquestes patologies i posicionar-les com un dels principals problemes de salud pública.
XS(XS_Net__Pcap_file); /* prototype to pass -Wmissing-prototypes */ XS(XS_Net__Pcap_file) { dXSARGS; if (items != 1) Perl_croak(aTHX_ Usage: Net::Pcap::file(p)); { pcap_t * p; FILE * RETVAL; if (sv_derived_from(ST(0), pcap_tPtr)) { IV tmp = SvIV((SV*)SvRV(ST(0))); p = (pcap_t *) tmp; } else croak(p is not of type pcap_tPtr); RETVAL = pcap_file(p); ST(0) = sv_newmortal(); { GV *gv = newGVgen(Net::Pcap); if ( do_open(gv, ,&, 2, FALSE, 0, 0, RETVAL) ) sv_setsv(ST(0), sv_bless(newRV((SV*)gv), gv_stashpv(Net::Pcap +,1))); else ST(0) = &PL_sv_undef; } } XSRETURN(1 ...
U2OS GFP-ACTB RFP-TUBA1B; ACTB is GFP-tagged on chromosome 7p22.1 and TUBA1B is RFP-tagged on chromosome 12q13.12. The U2OS cells are adherent, with a doubling time of approx. 29 hours.
Stargardts disease (STGD) and Retinitis Pigmentosa (RP) are inherited retinal degenerations that may be affected, in opposite way, by diet. Dietary profile was assessed in 24 patients with STGD and in 56 patients with RP. We documented in only 6 out of 24 (25 %) STGD patients a daily intake of vitamin A within the recommended range while 14/24 (58.3 %) reported a high daily intake and 4/24 (16.7 %) showed a low daily intake. With regard to RP, 4/56 (7.1 %) reported to be within the recommended range, 37/56 (66.1 %) reported high daily intake and 15/56 (26.8 %) showed low daily intake of vitamin A. Interestingly, STGD patients with low vitamin A intake (|600 µg RAE/day) showed significantly better visual acuity with respect to those introducing higher intake of vitamin A. The present study suggests insuitable nutrient intakes among patients with STGD and RP, especially for daily intake of vitamin A. The results may be used to provide tailored nutritional interventions in these patients.
Anaplastic oligodendroglial tumors are rare neoplasms with no standard approach to treatment. We sought to determine patterns of treatment delivered over time and identify clinical correlates of specific strategies using an international retrospective cohort of 1013 patients diagnosed from 19812007. Prior to 1990, most patients received radiotherapy (RT) alone as initial postoperative treatment. After 1990, approximately 50 of patients received both RT and chemotherapy (CT) sequentially and/or concurrently. Treatment with RT alone became significantly less common (67 in 19801984 vs 5 in 20052007, P | .0001). CT alone was more frequently administered in later years (0 in 19801984 vs 38 in 20052007; P | .0001), especially in patients with 1p19q codeleted tumors (57 of codeleted vs 4 with no deletion in 20052007; P | .0001). Temozolomide replaced the combination of procarbazine, lomustine, and vincristine (PCV) among patients who received CT alone or with RT (87 vs 2 in 20052007). In the most recent time
Meningiomas are mostly benign brain tumours, with a potential for becoming atypical or malignant. On the basis of comprehensive genomic, transcriptomic and epigenomic analyses, we compared benign meningiomas to atypical ones. Here, we show that the majority of primary (de novo) atypical meningiomas display loss of NF2, which co-occurs either with genomic instability or recurrent SMARCB1 mutations. These tumours harbour increased H3K27me3 signal and a hypermethylated phenotype, mainly occupying the polycomb repressive complex 2 (PRC2) binding sites in human embryonic stem cells, thereby phenocopying a more primitive cellular state. Consistent with this observation, atypical meningiomas exhibit upregulation of EZH2, the catalytic subunit of the PRC2 complex, as well as the E2F2 and FOXM1 transcriptional networks. Importantly, these primary atypical meningiomas do not harbour TERT promoter mutations, which have been reported in atypical tumours that progressed from benign ones. Our results ...
Clinical management of grade III oligodendroglioma G Simonetti, P Gaviani, A Botturi, A Innocenti, E Lamperti, A Silvani Neurooncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Abstract: Oligodendrogliomas represent the third most common type of glioma, comprising 4%–15% of all gliomas and can be classified by degree of malignancy into grade II and grade III, according to WHO classification. Only 30% of oligodendroglial tumors have anaplastic characteristics. Anaplastic oligodendroglioma (AO) is often localized as a single lesion in the white matter and in the cortex, rarely in brainstem or spinal cord. The management of AO is deeply changed in the recent years. Maximal safe surgical resection followed by radiotherapy (RT) was considered as the standard of care since paramount findings regarding molecular aspects, in particular co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19, revealed that these subsets of AO, benefit in terms of overall
Is anyone familiar with this type of brain cancer called Anaplastic oligodendroglioma? I tried to research it and either found technical info or very
Another name for Oligodendroglioma is Oligodendroglioma. The cause of oligodendroglioma is unknown, but genetics may play a role. Genes control the functions ...
Description: Oligodendroglioma - Pipeline Review, H1 2017, provides an overview of the Oligodendroglioma (Oncology) pipeline landscape. Oligodendroglioma i
Oligodendrogliomas are gliomas that arise in the cerebral hemispheres of young and middle-aged adults. The tumors have a propensity to arise in the gray matter or superficial white matter of the frontal lobes, but oligodendrogliomas may also arise in other regions of the central nervous system.
Definition : Molecular assay reagents intended to identify mutations in the ATP-binding cassette, subfamily A (ABC1), member 4 (ABCA4) gene, located at chromosome 1p22.1-p21, which encodes for a membrane-associated protein that is a member ATP-binding cassette (ABC) transporter. ABC proteins transport various molecules across extra- and intracellular membranes. Mutations at this locus have been identified in patients with retinitis pigmentosa type 19 (RP19), Stargardts disease, and age-related macular degeneration.. Entry Terms : ABCA4 Gene Mutation Detection Reagents , Reagents, Molecular Assay, Gene Anomaly, Mutation, ABCA4. UMDC code : 24275 ...
A rare, slow-growing tumor that begins in the oligodendrocytes (brain cells that nourish and support nerve cells). Also called an oligodendroglial tumor.
Oligodendroglioma: Clinical Presentation, Pathology, Molecular Biology, Imaging, and Treatment features the latest cutting-edge molecular biology, molecular...
AoA - Anaplastic Oligoastrocytoma. Looking for abbreviations of AoA? It is Anaplastic Oligoastrocytoma. Anaplastic Oligoastrocytoma listed as AoA
OPINION STATEMENT: Anaplastic oligodendroglial tumors have gained increasing interest with the emerging role of molecular markers and systemic chemotherapy during the past years. The long-term results of two landmark trials, RTOG 9402 and EORTC 26961, have resulted in a reconsideration of the appropriate therapeutic approaches for patients with these tumors. Both trials indicate that patients whose tumors harbor a 1p/19q co-deletion benefit particularly from the addition of procarbazine/lomustine (CCNU)/vincristine (PCV) chemotherapy to radiation therapy (RT). The median survival of patients with co-deleted tumors treated within the RTOG trial with PCV before irradiation was 14.7 years compared with 7.3 years of patients who received RT alone. Median overall survival has not been reached in the RT plus PCV arm of the EORTC trial, but a similar difference can be anticipated after a follow-up of more than 12 years. In contrast, no such benefit was observed for patients with tumors lacking 1p/19q ...
Mixed gliomas, such as oligoastrocytomas (OA), anaplastic oligoastrocytomas, and glioblastomas (GBMs) with an oligodendroglial component (GBMO) are defined as tumors composed of a mixture of two distinct neoplastic cell types, astrocytic and oligodendroglial. Recently, mutations ATRX and TP53, and codeletion of 1p/19q are shown to be genetic hallmarks of astrocytic and oligodendroglial tumors, respectively. Subsequent molecular analyses of mixed gliomas preferred the reclassification to either oligodendroglioma or astrocytoma. This study was designed to apply genetically integrated diagnostic criteria to mixed gliomas and determine usefulness and prognostic value of new classification in Korean patients ...
OBJECTIVES: I. Compare survival and time to first progression in patients with anaplastic oligodendroglioma treated with radiotherapy with or without adjuvant procarbazine, lomustine, and vincristine (PCV) following surgical resection. II. Investigate the effect of PCV on quality of life and neurologic function in these patients. III. Determine the toxicity of PCV in these patients. IV. Correlate chromosomal lesions (1p and/or 19q, 9p, p53 loss and mutation, amplification of chromosome 7, or loss of chromosome 10) with progression-free and overall survival in patients treated with these regimens.. OUTLINE: This is a randomized, multicenter study. Patients are stratified according to age, extent of resection, performance status, prior surgery, and participating center. Patients are randomized to one of two treatment arms. Arm I: Within 4-6 weeks after surgery, patients undergo radiotherapy over 7 weeks to the residual tumor volume. Arm II: Patients undergo radiotherapy as in arm I, then begin ...
TY - JOUR. T1 - Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG. AU - Lu, Lingyi. AU - Cancel-Tassin, Geraldine. AU - Valeri, Antoine. AU - Cussenot, Olivier. AU - Lange, Ethan M.. AU - Cooney, Kathleen A.. AU - Farnham, James M.. AU - Camp, Nicola J.. AU - Cannon-Albright, Lisa A.. AU - Tammela, Teuvo L.J.. AU - Schleutker, Johanna. AU - Hoegel, Josef. AU - Herkommer, Kathleen. AU - Maier, Christiane. AU - Vogel, Walther. AU - Wiklund, Fredrik. AU - Emanuelsson, Monica. AU - Grönberg, Henrik. AU - Wiley, Kathleen E.. AU - Isaacs, Sarah D.. AU - Walsh, Patrick C.. AU - Helfand, Brian T.. AU - Kan, Donghui. AU - Catalona, William J.. AU - Stanford, Janet L.. AU - Fitzgerald, Liesel M.. AU - Johanneson, Bo. AU - Deutsch, Kerry. AU - McIntosh, Laura. AU - Ostrander, Elaine A.. AU - Thibodeau, Stephen N.. AU - McDonnell, Shannon K.. AU - Hebbring, Scott. AU - Schaid, Daniel J.. AU - Whittemore, Alice S.. AU - Oakley-Girvan, ...
Forms of leukemia can be found on six different chromosomes. Acute leukemias can be found on chromosomes 1, 2, and 13, T-Cell developmental leukemia is found on chromosomes 3 and X, and the cause of myelogenous leukemia is in a protein coded for in chromosome 11 at 11p11.9. Chromosome 11 contains 134 million bases. Chromosome 11 has been identified with 151 diseases. Only chromosomes 1, 2, and X contain more currently identified diseases. Chromosome 11 has the most cancerous conditions of all of the chromosomes associated with it ...
BACKGROUND: Because of their rarity, outcomes regarding spinal atypical meningiomas (AMs) remain unclear. OBJECTIVE: To describe the recurrence rate and postoperative outcomes after resection of spinal AMs, and to discuss an appropriate resection strategy and adjuvant therapy for spinal AMs. METHODS: Data from all patients who presented with spinal AMs to 2 tertiary referral centers…
Zinc is an essential metal for all eukaryotes (ZIP) superfamily of metal ion transporters the human gene within chromosomal band 1q21 within the mouse EDC [epidermal differentiation complex], on mouse chromosome 3 similar to the demonstrated functions of human ZIP1 and ZIP2, zip1 mRNA is abundant in many mouse tissues whereas zip2 and zip3 mRNAs are very rare or moderately rare Slc39a1 pseudogene member 1. The gene encoding SLC41A1 is found on chromosome 1 (1q31-32) and the protein coding sequence and may serve as a gatekeeper for apart from X inactivation or X recessive putative transmembrane responsible for this Slc39a observation is found on 10 exons (NCBI Gene PMID: 11438993) homologous to the integral membrane part of the bacterial MgtE protein family and of a wide range of conditions, includes two distinct domains and R and S allele frequency disequilibrium. According to function locus 1p21-p13.3 translocation encoded by the MK3 gene (OMIM 176263) encoding 3 human cDNA ...
LCE1A, 0.4 ml. LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1.
title: A rare case of oligodendroglioma with gangliocytic differentiation in a 31-year-old male: importance of genetic testing for IDH1/2, doi: 10.1007/s10014-020-00368-w, category: Article
Please note that research and screening guidelines for genes associated with hereditary prostate cancer are still in their early stages. It is part of the color service to keep you updated if any information related to your results changes.. ** Only positions known to impact cancer risk analyzed: CDK4: only chr12:g.58145429_58145431 (codon 24) analyzed, EPCAM: only large deletions and duplications including 3 end of the gene analyzed, GREM 1: only duplications in the upstream region analyzed, MITF: only chr3:g.70014091 ( including c:952G,A) analyzed, POLD1: only chr19:g.50909713 (including c.1433G,A) analyzed, POLE: only chr12:g.133250250 (including c.1270C,G) analyzed.. *** [email protected]: Exons 12-15 not analyzed.. ...
Global Markets Directs, Oligodendroglioma - Pipeline Review, H2 2012, provides an overview of the indications therapeutic pipeline. This report provides information on the therapeutic development for Oligodendroglioma, complete with latest updates, and special features on late-stage and discontinued projects. It also reviews key players involved in the therapeutic development for Oligodendroglioma. Oligodendroglioma - Pipeline Review, Half Year is built using data and information sourced from Global Markets Directs proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together by Global Markets Directs team. Note*: Certain sections in the report may be removed or altered based on the availability and relevance of data for the indicated disease.
A certain (hypothetical) organism is diploid, has either blue or orange wings as the consequence of one of its genes on chromosome 12, and has either long or short antennae as the result of a second gene on chromosome 19, as shown in the figure. If a female of this species has one chromosome 12 with a blue gene and another chromosome 12 with an orange gene, and has both number 19 chromosomes with short genes, she will produce which of the following egg types ...
Get an answer for Explain how information is transferred through DNA on chromosomes when cells divide. and find homework help for other Biochemistry questions at eNotes
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Genes are carried on chromosomes and the two that are important in PKD are chromosomes 16 and 4. I am not going to deal with the specifics of inheritance - this is best explained on the PKD Foundation web page. The relevant facts are that: 85% people…
These two tumour types comprise approximately one quarter of all gliomas with astrocytomas taking up the other three quarters.. What is the prognosis of patients with oligodendrogliomas? Oligodendrogliomas tend to be diagnosed more often than ependemyomas. The prognosis of patients with oliogodendrogliomas is better overall than that of patients with astrocytomas, however it worsens if the tumour progresses to the anaplastic stage. The evolution of oligodendrogliomas is similar to that of astrocytomas. If the tumour is caught in time, and treated, via means of surgery, the patient may be able to live up to ten years, and have a median survival rate of 5 years.. What do oligodendrogliomas appear like on the macroscopic and microscopic level? ...
Loss of heterozygosity (LOH) of the short arm of chromosome 1 (1p) and the long arm of chromosome 19 (19q) is an early event in oligodendroglioma that occurs in up to 80% of patients and is associated with therapeutic sensitivity and longer overall survival. The purpose of this study was to confirm the reported association in patients at this centre, then identify and characterise genes that were differentially expressed and may function as a tumour suppressor or contribute to therapeutic sensitivity in oligodendroglioma. A clinical review of oligodendroglioma patients treated at Royal North Shore and North Shore Private Hospitals between 1990 and 2009 confirmed the association between LOH 1p/19q and longer overall survival in WHO grade III oligodendroglioma patients. Younger age and lower tumour grade were additionally confirmed as positive prognostic factors. Exon microarrays were used to identify changes in gene expression between oligodendrogliomas with and without LOH 1p/19q. Seventeen ...
Oligoastrocytoma are diffusely growing glioma, that belong to the oligodendroglial tumours. These rare brain tumours are also called „mixed glioma, since they present with an appearance of two cell origin, astrocytoma and oligodendroglioma. Please note that the following threads of our forum are currently only available in German language. ...
The patient went on to have surgery and histology revealed the lesion to be an anaplastic oligoastrocytoma. Note: This case predates the recent (2016) revision WHO classification of CNS tumours, and thus molecular markers (IDH mutation and 1p19q...
SUAREZ, Julio César et al. Gliomas cerebrales de bajo grado en el adulto. Rev. argent. neurocir. [online]. 2008, vol.22, n.1. ISSN 1850-1532.. Objective. Gliomas reviewed in this article are grade II tumors according to the World Health Organization (WHO), that include: fibrillary and protoplasmic astrocytomas, oligodendrogliomas and oligoastrocytomas or mix tumors (1,2,3).Low grade astrocytomas constitute 15% of brain tumors in adults, while low grade oligodendrogliomas represent 4% (2,4). We present our experience with this type of tumor operated on between January 1972 and December 2006. Material and Method. The clinical reports of 25 patients with this type of tumor were analyzed, 15 women and 10 men, which represent 15,6% of hemispheric brain gliomas in adults in our series. Results. Fifteen were fibrillary astrocytomas, 8 oligodendrogliomas and 2 oligoastrocytomas. Treatment depended on tumor localization and size. Surgery and radiotherapy were the therapeutic modalities most frequently ...
This case was histologically proven as an oligoastrocytoma (NOS) - WHO Grade II. NOTE: This case predates the 2016 WHO classification of CNS tumor revision. As no 1p19q co-deletion status is available a formal diagnosis cannot be reached and the...
TY - JOUR. T1 - Radiosurgery and atypical meningiomas. AU - Komotar, Rlcardo J.. AU - Lorgulescu Bryan, J.. AU - Gutin, Philip H.. PY - 2012/10/1. Y1 - 2012/10/1. UR - UR - U2 - 10.3171/2012.3.JNS12462. DO - 10.3171/2012.3.JNS12462. M3 - Editorial. AN - SCOPUS:84868383658. VL - 117. JO - Journal of Neurosurgery. JF - Journal of Neurosurgery. SN - 0022-3085. IS - 4. ER - ...
Sigma-Aldrich offers abstracts and full-text articles by [J Gregory Cairncross, Meihua Wang, Robert B Jenkins, Edward G Shaw, Caterina Giannini, David G Brachman, Jan C Buckner, Karen L Fink, Luis Souhami, Normand J Laperriere, Jason T Huse, Minesh P Mehta, Walter J Curran].
Sixty-three of 100 patients had enhancing tumors at initial presentation. Presence of contrast enhancement at diagnosis was related to reduced TTR and OS on univariate analysis but was not significantly related on multivariate analysis. In enhancing tumors, however, greater initial volume of enhancing tissue correlated with shortened TTR (p = 0.00070). Reduced postoperative residual enhancing volume and a relatively greater resection of enhancing tissue correlated with longer OS (p = 0.0012 and 0.0041, respectively). Interestingly, patients in whom 100% of enhancing tumor was resected had significantly longer TTR (174 vs 64 weeks) and OS (392 vs 135 weeks) than those with any residual enhancing tumor postoperatively. This prognostic benefit was not consistently maintained with greater than 90% or even greater than 95% resection of enhancing tissue. There was no relationship between presence or volume of enhancement and del 1p/19q. ...
Stargardts disease (STGD), also known as fundus flavimaculatus (FFM), is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbor the STGD gene. This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization. Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM ...
Our primary finding for linkage to diabetic nephropathy is on chromosome 19q (triangle MLS = 3.1), with a secondary peak on chromosome 2q (triangle MLS = 2.1). The former, but not the latter, exceeds the Lander and Kruglyak criterion of triangle MLS ≥2.6 (17,18) for suggestive linkage. For reference, triangle MLS values of 3.3, 2.3, and 1.7 correspond to unadjusted P values of 0.0001, 0.001, and 0.005, respectively.. Stratification of DSPs based on proteinuria or ESRD suggested four tertiary peaks: linkage with ESRD on chromosome 1q (MLS = 1.8), linkage with proteinuria on chromosome 20p (MLS = 2.8), and linkage with two separate regions on chromosome 3q, one for proteinuria (MLS = 1.5) and another, 58 cM away, for ESRD (MLS = 1.1). We also found two chromosomal regions linked with type 1 diabetes. The most striking, not surprisingly, was on chromosome 6p (MLS = 9.2, 52 cM), confirming the well-established linkage with HLA. We also replicated IDDM15 on chromosome 6q (MLS = 3.1, 142 cM) ...
This is my first post as well so I will give you a little background first. I was diagnosed in September of 2003 with a grade II mixed Oligodendroglioma. I was given the option of doing nothing and taking a wait and see approach or being more aggressive and attempting to remove as much as possible with surgery. I chose the surgery option and they were able to remove about 2/3 of the tumor from my left frontal lobe. While I was on the table the surgeon spoke to my family and told them he could try to get the rest but he would have to remove so much good brain tissue that damage was likely and there was a large risk of me coming out of the surgery a different person. Fortunately my family made the right decision and decided against any further removal. I started Temodar in December of 2003 and continued that until February of 2006 with a lapse due to the onset of some severe side effects that required stopping treatment for about 4-5 months. My doctors were going to do radiation therapy but at the ...
This is my first post as well so I will give you a little background first. I was diagnosed in September of 2003 with a grade II mixed Oligodendroglioma. I was given the option of doing nothing and taking a wait and see approach or being more aggressive and attempting to remove as much as possible with surgery. I chose the surgery option and they were able to remove about 2/3 of the tumor from my left frontal lobe. While I was on the table the surgeon spoke to my family and told them he could try to get the rest but he would have to remove so much good brain tissue that damage was likely and there was a large risk of me coming out of the surgery a different person. Fortunately my family made the right decision and decided against any further removal. I started Temodar in December of 2003 and continued that until February of 2006 with a lapse due to the onset of some severe side effects that required stopping treatment for about 4-5 months. My doctors were going to do radiation therapy but at the ...
The brain is part of the central nervous system (CNS). The CNS also includes the spinal cord. A tumor is an abnormal growth of tissue. An oligodendroglioma is a type of CNS tumor called a glioma.
Learn more about Oligodendroglioma symptoms, diagnosis, and treatments from experts at Boston Childrens, ranked best Childrens Hospital by US News.
TY - JOUR. T1 - Clinical value of chromosome arms 19q and 11p losses in low-grade gliomas. AU - Alentorn, A.. AU - van Thuijl, H.F.. AU - Marie, Y.. AU - Alshehhi, H.. AU - Carpentier, C.. AU - Boisselier, B.. AU - Laigle-Donadey, F.. AU - Mokhtari, K.. AU - Scheinin, I.. AU - Wesseling, P.. AU - Ylstra, B.. AU - Capelle, L.. AU - Hoang-Xuan, K.. AU - Sanson, M.. AU - Delattre, J.Y.. AU - Reijneveld, J.C.. AU - Idbaih, A.. PY - 2014. Y1 - 2014. U2 - 10.1093/neuonc/not227. DO - 10.1093/neuonc/not227. M3 - Article. C2 - 24335697. VL - 16. SP - 400. EP - 408. JO - Neuro-Oncology. JF - Neuro-Oncology. SN - 1522-8517. IS - 3. ER - ...
The apolipoprotein E (|i|APOE|/i|) gene on chromosome 19q13.32, was the first, and remains the strongest, genetic risk factor for Alzheimers disease (AD). Additional signals associated with AD have been located in chromosome 19, including |i|ABCA7|/i| (19p13.3) and |i|CD33 (|/i|19q13.41). The |i|AB|/i| …
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The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.. *v ... paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[5][6][7] ... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Molecular and Cellular Biology. 31 (8): 1624- ...
In humans, Robertsonian translocations generally occur in the five acrocentric chromosome pairs, namely 13, 14, 15, 21 and 22. ... or non-homologous chromosomes (i.e. two different chromosomes, not belonging to a homologous pair). A feature of chromosomes ... Chromosome studies. I. Taxonomic relationships shown in the chromosomes of Tettigidae and Acrididae. V-shaped chromosomes and ... This type of translocation is cytologically visible, and can reduce chromosome number (from 23 to 22 pairs, in humans) if the ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... Chromosome condensation[edit]. Phosphorylation of H3 at serine 10 (phospho-H3S10). The mitotic kinase aurora B phosphorylates ...
... is from base pair 50,384,290 to base pair 50,418,018 on chromosome 19.[26] The mouse orthologue maps to mouse chromosome 7.[27] ... in human Homo sapiens Mus musculus Saccharomyces cerevisiae Schizosaccharomyces pombe A (catalytic) p125 POLD1-Chr 19q13.3 ... Figure 2: Conserved motifs in the exonuclease domain of human p125. Motifs I to III are conserved in the B-family of ... "European Journal of Human Genetics. doi:10.1038/ejhg.2015.252. PMC 5070903. PMID 26648449.. ...
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ...
The number of base-pairs to which it corresponds varies widely across the genome (different regions of a chromosome have ... in humans 1 centimorgan on average represents a distance of about 7.5x10E5 base pairs. ... 1. (. 2. k. +. 1. ). !. =. e. −. d. /. 100. sinh. ⁡. (. d. /. 100. ). =. 1. −. e. −. 2. d. /. 100. 2. ,. {\displaystyle {}=\sum ... It is defined as the distance between chromosome positions (also termed loci or markers) for which the expected average number ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... in humans, is encoded by the OSR1 gene found on chromosome 2 (2p24.1) and in mice is encoded by the Osr1 gene. In mammals, OSR1 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately ... COL7A1 is transcribed into an mRNA of 9,287 base pairs. In the skin, the type VII collagen protein is synthesized by ... Greenspan DS, Byers MG, Eddy RL, Hoffman GG, Shows TB (1993). "Localization of the human collagen gene COL7A1 to 3p21.3 by ... Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor". Human ...
... is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 63 million base pairs (the building ... See also: Category:Genes on human chromosome 20.. The following is a partial list of genes on human chromosome 20. For complete ... "Chromosome 20". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 20". Human Genome Project Information Archive ... Human chromosome 20 pair after G-banding.. One is from mother, one is from father. ...
Figure 4 shows an example of such a profile across 70,000,000 base pairs of human Chromosome 2.[2] ... Replication timing and chromosome structure[edit]. Figure 5. Nucleus of a female amniotic fluid cell. Top: Both X-chromosome ... Chromosome Res 18: 115-125. *^ Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J ... Figure 4: A diagrammatic representation of replication timing in a 70-Mb segment of human chromosome 2. The red horizontal line ...
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector" ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ... Yeast artificial chromosome. References[edit]. *^ O'Connor M, Peifer M, Bender W (2018). "Construction of large DNA segments in ...
The human FABP1 gene is located on the short (p) arm of chromosome 2 from base pair 88,122,982 to base pair 88,128,131. FABP1 ... FABP1 is a human gene coding for the protein product FABP1 (Fatty Acid-Binding Protein 1). It is also frequently known as liver ... Chan L, Wei CF, Li WH, Yang CY, Ratner P, Pownall H, Gotto AM, Smith LC (March 1985). "Human liver fatty acid binding protein ... On exon 3 of the human FABP1 gene an Ala to Thr substitution has been identified leading to a T94A missense mutation. Carriers ...
There are 46 chromosomes in a human, 23 pairs. Everyone has a set of chromosomes from their father and a matching set from ... They include a pair of sex chromosomes. The mother's eggs always contain an X chromosome, while the father's sperm contains ... Chromosomes come in pairs: one set from the mother; the other set from the father. Cytologists label chromosomes with numbers.[ ... Polytene chromosomes are over-sized chromosomes which have developed from standard chromosomes. Specialized cells undergo ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ... lactoferrin shows potent activity against both human immunodeficiency virus and human cytomegalovirus replication in vitro". J ...
Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs split and a representative of each pair ... A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion syndrome, one chromosome of the ... pair is not complete, because a part of the sequence of the chromosome is missing. One chromosome has the normal length and the ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ...
Karyotype of a human being, showing 22 pair of autosomal chromosomes and both the XX female and the XY male possibilities for ... As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 is the end result of the ... Males have XY sex chromosomes and females have XX sex chromosomes. The sex chromosomes are the largest chromosomes and ... Shared synteny of human chromosome 17 loci in Canids. *An atlas of the chromosome numbers in animals (1951); PDF downloads of ...
The haploid human genome (23 chromosomes) is estimated to be about 3.2 billion bases long and to contain 20,000-25,000 distinct ... may be used for base pairs. The centimorgan is also often used to imply distance along a chromosome, but the number of base ... Top, a G.C base pair with three hydrogen bonds. Bottom, an A.T base pair with two hydrogen bonds. Non-covalent hydrogen bonds ... The GU pairing, with two hydrogen bonds, does occur fairly often in RNA (see wobble base pair). ...
Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... PAX7+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) PAX7 human gene location in the UCSC ...
1991). "Localization of human thyrotropin receptor gene to chromosome region 14q3 by in situ hybridization". Cytogenet. Cell ... Ohno M, Zannini M, Levy O, Carrasco N, di Lauro R (March 1999). "The paired-domain transcription factor Pax8 binds to the ... 1997). "Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter". Endocrinology. 138 ... and chromosome mapping of the human sodium iodide symporter". Endocrinology. 138 (8): 3555-8. doi:10.1210/en.138.8.3555. PMID ...
Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs splits and a representative of each pair ... In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 CNVs one chromosome ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ... 1q21.1 copy number variations (CNVs) are rare aberrations of human chromosome 1. ...
Meiosis is the process of dividing cells in humans. In meiosis, the chromosome pairs splits and a representative of each pair ... In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome ... one chromosome of the pair is over complete, because a part of the sequence of the chromosome is duplicated twice or more. In ... In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after ...
It is also known as URLC4 in humans. The locus of this gene is 1q32.2. C1orf74 is 2229 base pairs long. The gene contains two ... May 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur. ... The protein that is encoded by C1orf74 in humans is most commonly known as UPF0739 protein C1orf74. The human version of ... on chromosomes 11q23.3-24 and 20q12.1-11.23". American Journal of Human Genetics. 68 (3): 661-73. doi:10.1086/318788. PMC ...
For instance, in human reproduction each human cell contains 46 chromosomes in 23 pairs. Meiosis in the parents' gonads produce ... the resulting child will have 23 chromosomes from each parent genetically recombined into 23 chromosome pairs or 46 total. ... See also: Human reproduction. There are three extant kinds of mammals: monotremes, placentals and marsupials, all with internal ... Sexual reproduction is a kind of life cycle where generations alternate between cells with a single set of chromosomes (haploid ...
"Chromosome X Open Reading Frame 67". GeneCards-The Human Gene Compendium. "Homo sapiens gene CXorf67, encoding chromosome X ... The gene is located on the positive strand of the X chromosome at Xp11.22. The mRNA is 1939 base pairs long and contains 1 exon ... "CXorf67 chromosome X open reading frame 67 [ Homo sapiens (human) ]". NCBI-National Center for Biotechnology Information. " ... Uncharacterized protein CXorf67 is a protein that in humans is encoded by the CXorf67 gene. The Accession Number for the human ...
G-bands of human chromosome 1 in resolution 850 bphs[19]. Chr. Arm[20]. Band[21]. ISCN. start[22]. ISCN. stop[22]. Basepair. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Wikimedia Commons has media related to Human chromosome 1.. *. National Institutes of Health. "Chromosome 1". Genetics Home ... Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... Ridley concludes that the Human Genome Project is largely based on the inaccurate belief that there is one single human genome ...
Its mRNA sequence is 2284 base pairs in length and includes seven exons. The coding sequence is from base pairs 151 to 624. The ... 2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs ... This proteins gene is located on chromosome 7 open reading frame 43. Its function is also unknown. Investigation of several GEO ... Transmembrane protein 50A is a protein that in humans is encoded by the TMEM50A gene. This gene is located in the RH gene locus ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
Chromosomes. , Human. , Pair. 2/*chemistry Chromosomes. , Human. , Pair. 3/*chemistry Chromosomes. , Human. , Pair. 4/* ... Chromosomes. , Human. , Pair. 2/metabolism ; Chromosomes. , Human. , Pair. 2/ultrastructure ; Chromosomes. , Human. , Pair. 3/ ... Chromosomes. , Human. , Pair. 3/ultrastructure ; Chromosomes. , Human. , Pair. 4/metabolism ; Chromosomes. , Human. , Pair. 4/ ... Chromosomes. , Human. , Pair. 22*/genetics Chromosomes. , Human. , Pair. 22*/metabolism Leukemia, Megakaryoblastic, Acute*/ ...
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus. ... 3 phenotypes from 1 allele in 1 genetic background 9 phenotype references ...
An impressive LOD score of 6.5 has recently been reported for schizophrenia on chromosome 1q21-22 in large families from ... We did not reproduce such a finding in large pedigrees of eastern Québec based on seven markers spanning the 1p13-1 … ... Chromosome Mapping * Chromosomes, Human, Pair 1* * Genetic Markers * Humans * Lod Score * Quebec ... Chromosome 1q12-q22 linkage results in eastern Québec families affected by schizophrenia Am J Med Genet. 2002 Jan 8;114(1):51-5 ...
Chromosomes, Human, Pair 1 / genetics* * Family Health * Female * Genes, Dominant * Genetic Linkage ... Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma Am J Med Genet. ... 2001 Jan 1;98(1):32-6. Authors S Niemann 1 , J Becker-Follmann, G Nürnberg, F Rüschendorf, N Sieweke, M Hügens-Penzel, H Traupe ... Our investigations indicate that PGL3 is located in 1q21-q23 for several reasons: 1) two-point linkage analysis yielded the ...
1;22;4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). He was the second patient with complex ... Chromosomes, Human, Pair 22*. Chromosomes, Human, Pair 4*. Cytogenetics. Humans. Infertility, Male / genetics*. Male. ... Chromosome Aberrations. Chromosome Banding. Chromosomes / ultrastructure*. Chromosomes, Human, Pair 1*. ... 6885076 - A deletion of heterochromatin only of the y chromosome in an azoospermic male.. 18953646 - Cytogenetic and y ...
Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex ... Download ppt "Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 ... Alu Human Polymorphism 2 How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex ... How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex chromosomes What is the ...
Bulkiest Human Sequence Packs Medical Arsenal DNA Protein Analysis Of Human Chromosome 6, Counts 166,880,988 Base Pairs, Covers ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
G-bands of human chromosome 1 in resolution 850 bphs[19]. Chr. Arm[20]. Band[21]. ISCN. start[22]. ISCN. stop[22]. Basepair. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Wikimedia Commons has media related to Human chromosome 1.. *. National Institutes of Health. "Chromosome 1". Genetics Home ... Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 ...
Men on the other hand have an X and a Y. So, each of their sperm carries one of the 2 sex chromosomes, which sex chromosome is ... Humans have 1 pair of sex chromosomes. Women have 2 X chromosomes and men have an X and Y. The presence or absence of the Y ... chromosome determines the sex of your child. Because women have only X chromosomes, all of their eggs have only X chromosomes. ... Humans have roughly 25,000 genes, yet only 1 gene located on the Y chromosome, the SRY gene is required for male development. ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridleys books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
Humans have 23 pairs of chromosomes or 46 chromosomes in total. Interestingly, fruit flies have 8 chromosomes, and pigeons have ... Packaging DNA: Chromatin and chromosomes. The complete set of chromosomes in a human male.. Image credit: National Human Genome ... Telomeres are regions of repeated nucleotides at the end of chromosomes.. They protect the ends of the chromosome from being ... and it is then packaged into structures called chromosomes. These chromosomes form the familiar "X" shape as seen in the image ...
Human chromosome 1: entries, gene names and cross-references to MIM. *Human entries with genetic variants. List of human ... sp,P23759,PAX7_HUMAN Paired box protein Pax-7 OS=Homo sapiens OX=9606 GN=PAX7 PE=1 SV=4 ... IPR043182, PAIRED_DNA-bd_dom. IPR001523, Paired_dom. IPR022106, Pax7_C. IPR043565, PAX_fam. IPR036388, WH-like_DNA-bd_sf. ... IPR043182, PAIRED_DNA-bd_dom. IPR001523, Paired_dom. IPR022106, Pax7_C. IPR043565, PAX_fam. IPR036388, WH-like_DNA-bd_sf. ...
THE HUMAN GENOME. •___ genes. ___ chromosomes. ___ pairs. •1-22 = •23 = •~20,000 genes. •. •46 chromosomes. •. •23 pairs. •1-22 ... copy of a chromosome). •. _____ (__ copies of a chromosome). •. _______ (__ copies of a chromosome). ... copies of a chromosome (or ___of a chromosome) inherited from the ___ parent. ___ copies are inherited from the other parent. • ... Multiple sets of chromosomes. •. •Triploidy (3 copies of each chromosome). Beyond triploidy, even more incompatible with life, ...
Humans have 46 total chromosomes, or 23 HOMOLOGOUS PAIRS. Humans have 46. chromosomes, or 23. pairs. Dont forget our plants ... of the amount of chromosomes!. Review- What is a Chromosome? A CHROMOSOME. is a threadlike structure in the nucleus of a cell ... Prophase- DNA (chromatin) condenses to form chromosomes. Metaphase- Chromosomes migrate to cell center. Anaphase - Chromosomes ... Chromosomes line up to the center of the cell, preparing to divide. P. M. AT. PM. A. T. ANAPHASE. Chromosomes split and move ...
... base pairs) and representing approximately 8 percent of the total DNA in cells. Learn about health implications of genetic ... Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks ( ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 1, one copy inherited from ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
... is caused by expansion of an unstable CAG triplet repeat located on the short arm of chromosome 6. Precise mapping has shown a ... Chromosome Mapping. Chromosomes, Human, Pair 6*. Female. Haplotypes. Humans. Japan. Linkage Disequilibrium. Male. Pedigree. ... is caused by expansion of an unstable CAG triplet repeat located on the short arm of chromosome 6. Precise mapping has shown a ...
Human cells have 23 pairs of chromosomes. How many chromatids are present during:. G1?. G2?. Interphase. Chromosomes Condense. ... Human - 46. Tobacco - 48. Donkey - 62. Horse - 64. Mule - 63. Eukaryotes have many, linear chromosomes. ... Most eukaryotic cells have 2 copies of every chromosome.. They form in attached, identical pairs.. Chromatid: 1 member of the ... Chromosomes begin to migrate to cell equator.. 2 complete spindles at cell poles.. Chromosomes are at metaphase plate.. Spindle ...
do a crtl/f page text search on the word chromosome when you open the link. Humans have pairs of chromosomes, numbered 1...22 ... Chromosome #1 and #7 are where certain genes (alleles) live, and some of them are reported to increase the likelihood of ... Of course everything about being human will be influenced by genes at some level so the question as to whether addictions are ...
Human beings have 46 chromosomes, consisting of 22 pairs of autosomes and a pair of sex chromosomes: two X sex chromosomes for ... A human being has 20,000 to 25,000 genes located on 46 chromosomes (23 pairs). These genes are known, collectively, as the ... One member of each pair of chromosomes comes from the mother (through the egg cell); one member of each pair comes from the ... Karyotype of a human male. Prokaryotic chromosomes. The prokaryotes (Greek for before nucleus - including Eubacteria and ...
Chromosomes, Human, Pair 9 * Exons * Female * Gene Library * Genetic Markers * Glycoproteins / genetics* ... S Rust 1 , M Rosier, H Funke, J Real, Z Amoura, J C Piette, J F Deleuze, H B Brewer, N Duverger, P Denèfle, G Assmann ... in which we found the gene encoding human ATP cassette-binding transporter 1 (ABC1). We also found a change in ABC1 expression ... Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 Nat Genet. 1999 Aug;22(4):352-5. ...
This page shows the publications Kiran Musunuru has written about Chromosomes, Human, Pair 1. ...
Over 70% of patients suffer by this syndrome due to deletion of maternal chromosome 15 gene. Achondroplasia is a genetic and ... Rare genetic disorders in humans. RARE GENETIC DISORDERS IN HUMANS Angleman Syndrome: Achondroplasia: Its a complex genetic ... In United States, 1 in every 10,000 people is affected and in few isolated communities of Israel, 6 per 1,000 people were It is ... Every 1 out of 4,000 males and 1 in every 8,000 females suffer from Fragile X syndrome. Different medicinal, educational and ...
Promoter conservation among the mouse, human, and chicken Bmp5 genes. The transcription start site in mice is shown as the +1 ... The blackened boxes indicate base pairs that are identical in all three species. Previously published Bmp5 sequence () begins ... The arrows on the 3′ side of the Bmp5 exons indicate positions of chromosome breakpoints in two short ear regulatory mutations ... Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes.. DiLeone RJ1, Marcus GA, ...
A single inherited trait of an individual can be determined by one pair or by many pairs of genes. A human cell contains ... Genes are composed of DNA that makes up the chromosomes of cells.. * Identify functions of plant cell parts (5-O.1) ... 2.1c Each human cell contains a copy of all the genes needed to produce a human being.. ... In many species, including plants and humans, eggs and sperm are produced.. * Identify flower parts and their functions (5-L.4) ...
Human cells have 23 pairs of chromosomes, which are visible under a standard light microscope.. Chromosomes. ... Missing a chromosome. Monosomy 18, for example, means that the perons has only one copy of chromosome #18 (has the normal ... the 23rd pair of chromosomes in humans. Sex chromosomes. Describes the microscopic appearance of the chromosomes.. Karyotype. ... Having an abnormal number of chromosomes. Aneuploid. ... Having an extra copy of a chromosome.. Trisomy. The percentage ...
Free flashcards to help memorize facts about genetics chapter 1-2. Other activities to help include hangman, crossword, word ... human cells. how many chromosomes do somatic cells carry?. 23 pairs, 46 chromosomes. ... chromosomes condense and become reconizable as chromosomes 2. chromosomes continue to condense until it is two long strands ... a duplicate copy of each of the chromosomes are made, chromosomes become double stranded. ...
The human Y chromosome is dramatically different from that of our nearest living relative - up to 50% different. ... Although previous genetic studies had suggested that human-chimpanzee differences were greater than first thought, the latest ... Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. Each parent contributes one chromosome to ... Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. Each parent contributes one chromosome to ...
Chromosome Band. hide. dense. squish. pack. full. deCODE Recomb. hide. dense. squish. pack. full. ENCODE Pilot. hide. dense. ... BAC End Pairs. hide. dense. squish. pack. full. BU ORChID. hide. dense. squish. pack. full. ... UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19) Assembly. move <<< title=move 95% to the left>. << title=move 47.5% ...
Humans have 46 chromosomes. There are 2 sex chromosomes and 22 pairs of non-sex chromosomes. Females have 2 X chromosomes and ... Genes and Chromosomes. Genes are the tiniest piece of human information. They serve as the bodys blueprint of heredity. Genes ... The chromosomes are housed within the nucleus of the human cell.. Inheritance. Since the beginning of time, people have ... They are housed in molecular compartments known as chromosomes. If genes are the blueprints, chromosomes are the binders that ...
  • Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non- sex chromosomes . (
  • Of the 46 chromosomes in each human cell except sperm and egg cells (which have only half that number), 44 are non-sex chromosomes or "autosomes. (
  • Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes . (
  • Humans have 22 pairs of autosomes and 1 pair of sex chromosomes. (
  • Scientists believe that the modern Y chromosome evolved from the autosomes and slowly specialized into functioning as a sex determining agent. (
  • Normally, humans have 46 chromosomes, namely 22 pairs of autosomes and 1 pair of sex chromosomes. (
  • How Many Autosomes Do Humans Have? (
  • How Many Autosomes Do Humans H. (
  • Humans have 44 autosomes, which is a total of 22 pairs of autosomes. (
  • Autosomes are the chromosomes that determine what proteins are made in the body that are not related to sex. (
  • There are 23 pairs of chromosomes in humans (44 autosomes, 2 sex chromosomes). (
  • 1.There are a total of 22 autosomes and 1 unpaired sex chromosome in a gamete. (
  • Each organism of a species is normally characterized by the same number of chromosomes in its somatic cells, 46 being the number normally present in humans, including 22 pairs of autosomes and the two sex chromosomes (XX or XY), which determine the sex of the organism. (
  • The autosomes are numbered 1-22, roughly in order of decreasing length. (
  • Humans have roughly 25,000 genes, yet only 1 gene located on the Y chromosome, the SRY gene is required for male development. (
  • Robert Plomin 's announcement in 1997 of the discovery of "a gene for intelligence" on chromosome 6 is the foundation for this chapter's lengthier discussion of the genetic basis for intelligence . (
  • This included gene IGF 2 R on the long arm of chromosome 6, which may also be related to liver cancer . (
  • In particular, " specific language impairment " is possibly related to a gene on chromosome 7 . (
  • The following are some of the gene count estimates of human chromosome 1. (
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (
  • The deletion in chromosome 1 involved in TAR syndrome eliminates at least 200,000 DNA building blocks (200 kilobases, or 200 kb) from the long (q) arm of the chromosome, including a gene called RBM8A . (
  • We report here refining of our previous linkage of the TD gene to a 1-cM region between markers D9S271 and D9S1866 on chromosome 9q31, in which we found the gene encoding human ATP cassette-binding transporter 1 (ABC1). (
  • Over 70% of patients suffer by this syndrome due to deletion of maternal chromosome 15 gene. (
  • Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. (
  • Here we describe the use of bacterial artificial chromosome clones to rapidly survey hundreds of kilobases of DNA for potential regulatory sequences surrounding the mouse bone morphogenetic protein-5 (Bmp5) gene. (
  • If a gene is like a chapter in a book, the chromosome is the book itself. (
  • The human organism contains threadlike, gene-bearing chromosomes, twenty three pairs of them. (
  • The speciation model of suppressed recombination has recently been tested by gene and DNA sequence comparisons between humans and chimpanzees, between Drosophila species, and between species related to Anopheles gambiae , the vector of malignant malaria in Africa. (
  • Key points about meiosis: it halves the number of chromosomes per cell and it gives rise to new gene combinations (via crossing-over within the chromosomes and chromosomal re-assortment). (
  • In some patients loss of the telomeric locus for the interleukin 1 receptor accessory protein-like gene (IL1RAPL1) may occur and is associated with developmental delay and intellectual disability [4, 5]. (
  • He concluded that the gene for white eyes must be on a chromosome that was related to being male. (
  • However, since there are many different Y-chromosome haplotypes found at many Multiple places on a chromosome where specific genes or genetic markers are located, a kind of address for the gene. (
  • loci , it is virtually impossible that all of those Multiple places on a chromosome where specific genes or genetic markers are located, a kind of address for the gene. (
  • It is the presence or the absence of the SRY gene (sex determining region of the Y chromosome) that determines which way the embryo will develop. (
  • D. In humans, _______________ (reproductive cells of egg and sperm) contain a single copy of each gene (one set of genetic information). (
  • That is, which chromosomes they are in and whereabouts the gene appears on that chromosome's piece of DNA. (
  • In humans, a single gene may be on average around 10 to 50 thousand base pairs long. (
  • 1] When a gene is expressed, a specific protein is produced. (
  • mapping "the human genome" involves sequencing multiple variations of each gene. (
  • The human GBP1 gene is telomeric to GBP2 and centromeric to GBP3. (
  • The pericentromeric region of this homeologous chromosome pair accounts for two-thirds of the gene content differences between the modern chromosomes. (
  • Both intriguing and perplexing is a distal chromosomal region with the greatest DNA similarity between surviving duplicated genes but also with the highest concentration of lineage-specific gene pairs found anywhere in these genomes and with a significantly elevated gene evolutionary rate. (
  • Chromosome structural stratification, together with enrichment of autoimmune response-related (nucleotide binding site-leucine-rich repeat) genes and accelerated DNA rearrangement and gene loss, confer a striking resemblance of this grass chromosome pair to the sex chromosomes of other taxa. (
  • with both members of the paleo-duplicated gene pairs remaining extant in only ~17% of cases. (
  • [1] [2] They are the chief protein components of chromatin , acting as spools around which DNA winds, and playing a role in gene regulation . (
  • Fragile X syndrome is caused by a mutation in the FMR-1 gene, located on the X chromosome. (
  • The FMR-1 gene is thought to play an important role in the development of the brain, but the exact way that the gene acts in the body is not fully understood. (
  • A summary of existing research conducted by the Centers for Disease Control and Prevention in 2001 estimated that approximately one in 3,500-8,900 males is affected by the full mutation of the FMR-1 gene and that one in 1,000 males has the premutation form of the FMR-1 gene. (
  • For reasons not fully understood, the CGG sequence in the FMR-1 gene can expand through succeeding generations to contain between 54 and 230 repeats. (
  • All mothers of a child with a full mutation are carriers of an FMR-1 gene expansion. (
  • Once the size of the premutation exceeds 230 repeats, it becomes a full mutation, and the FMR-1 gene is disabled. (
  • Since the FMR-1 gene is located on the X chromosome, males are more likely to develop symptoms than females. (
  • A female's normal X chromosome may compensate for her chromosome with the fragile X gene mutation. (
  • The human AGER (RAGE) gene lies within the major histocompatibility complex class III region on chromosome 6, which contains genes involved in immune responses, such as TNFalpha , lymphotoxin , complement components and homeobox gene HOX12 . (
  • The different RAGE gene splice variants have been named RAGE, RAGE_v1 to RAGE_v19 according to the Human Gene Nomenclature Committee. (
  • The chance is 1 in 2 (50%) for passing this autosomal dominant gene to a particular offspring. (
  • This gene is located on the X chromosome. (
  • The mutation involves a short sequence of DNA in the FMR-1 gene. (
  • one of two or more alternative forms of a gene at the same site in a chromosome, which determine alternative characters in inheritance. (
  • As autosomal chromosomes are paired, each autosomal gene is represented twice in normal somatic cells. (
  • 1 one of two or more alternative forms of a gene that occupy corresponding loci on homologous chromosomes. (
  • any one of two or more variants of a gene that occupy the same position (locus) on a chromosome, which may differ in nucleotide sequence, but not substantively in function or effect. (
  • Humans have two, usually identical, alleles for each gene, one on each AUTOSOMAL chromosome of a pair. (
  • This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). (
  • The gene that encodes TCERG1L contains just over 219,000 bases and maps to human chromosome 10q26.3. (
  • Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. (
  • The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. (
  • This DNA is tightly packed into structures called chromosomes , which consist of long chains of DNA and associated proteins. (
  • A chromosome is a packaged unit of DNA and associated proteins. (
  • The human genome is made up of 3 billion base pairs How many genes does the Human Genome code for? (
  • Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA . (
  • Chromosome 1 is the largest human chromosome, spanning about 249 million DNA building blocks (base pairs) and representing approximately 8 percent of the total DNA in cells. (
  • Most commonly, affected individuals are missing about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region. (
  • 1q21.1 microduplications most often involve the same segment of about 1.35 million base pairs that is missing in 1q21.1 microdeletions (described above). (
  • The blackened boxes indicate base pairs that are identical in all three species. (
  • Physical (kbp, Mbp) distance is the number of base pairs between two loci but genomic distance (cM) is the recombination fraction between two loci. (
  • In 1991 a project called the Human Genome Project began to use computers to map the three billion base pairs which make up the 46 human chromosomes. (
  • The Y chromosome is made up of some 58 million base pairs and more than 95% of it is male specific. (
  • A chromosome consists of millions of base pairs, some of which are called genes. (
  • The Human Genome Project (HGP) was an international scientific research project with a primary goal to determine the sequence of chemical base pairs which make up DNA and to identify and map the approximately 20,000-25,000 genes of the human genome from both a physical and functional standpoint. (
  • Around 146 base pairs (bp) of DNA wrap around this core particle 1.65 times in a left-handed super-helical turn to give a particle of around 100 Angstroms across. (
  • This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of nucleosomes (also referred to as linker DNA ). (
  • Alu elements" comprise about one tenth of the human genome, which roughly equals three hundred million DNA base pairs. (
  • What makes them unique is their length of about 300 base pairs and their particular sequences. (
  • The "rungs" of the ladder are made of base pairs, or nucleotides with complementary hydrogen bonding patterns. (
  • That doesn't seem like much until you realize that there are about THREE BILLION base pairs in which those differences may be expressed. (
  • Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (
  • Scientists counted 3.5 billion base pairs in the crayfish genome, which are some 7 percent larger in size than the human genome. (
  • The draft human genome sequence (about 3 billion base pairs) was completed in 2001. (
  • Chromosome 22 is the second smallest human chromosome, spanning about 49 million base pairs (the building material of DNA ) and representing between 1.5 and 2 percent of the total DNA in cells . (
  • In 1999 , researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. (
  • Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (
  • By comparison, there are three billion base pairs of DNA in one copy-23 chromosomes-of the human genome). (
  • The ~1000 fragments of ~1000 base pairs each were "stitched" together inside yeast cells through a process of DNA recombination which is inherent to the cell. (
  • DNA synthesis, cloning, and recombination techniques are frequently used but have never been applied on the scale of millions of base pairs. (
  • Complex chromosomal rearrangement involving chromosomes 1, 4 and 22 in an infertile male: case report and literature review. (
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 1. (
  • 1q21.1 microdeletion is a chromosomal change in which a small piece of the long (q) arm of chromosome 1 is deleted in each cell. (
  • Here, we report the first evidence that a distinct category of chromosomal translocations observed in human tumours-those targeting 1q12 satellite DNA-can directly mediate such perturbations by promoting the formation of aberrant heterochromatic foci (aHCF). (
  • Intragenomic similarity near this chromosomal terminus may be important in hom(e)ologous chromosome pairing. (
  • Klinefelter's Syndrome, which affects 1 in 500 to 1 in 1000 live births, is a sex chromosomal genetic disorder where the affected males have an extra X chromosome. (
  • KS affects 1 in 660 males and is a chromosomal condition that only affects males. (
  • Several roles have been proposed for such chromosome motion, including promoting homolog pairing and removing inappropriate chromosomal interactions. (
  • Chromosomes begin to separate as they further condense, pushing chiasmata to the chromosomal termini. (
  • Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including mental retardation, delayed development, physical abnormalities, and other medical problems. (
  • When a chromosomal fusion occurs in one individual human, they would look no different than any other human. (
  • Cytogenetic disorders with visible chromosomal abnormalities are evidenced by either an abnormal number of chromosomes or some alteration in the structure of one or more chromosomes. (
  • Here we describe a rare case of an apparently balanced karyotype of 46, XY, t(1;22;4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). (
  • Key to connecting chromosomes to symptoms and traits is the karyotype, a size-order alignment of chromosome pairs in a chart. (
  • A child with a collection of symptoms and an abnormal karyotype could best be diagnosed as having "an anomaly of a G group chromosome. (
  • The chromosome constitution of an individual, karyotype, can be analyzed following tissue culture of an appropriate sample. (
  • Klinefelter's syndrome is a genetic disorder in which there is at least one extra x chromosome to a normal human male karyotype, for a total of 47 chromosomes. (
  • I don't know the answer to this right off hand but one paper I found suggests that it is rather often, 'The Robertsonian (Rb) fusion, a chromosome rearrangement involving centric fusion of two acro-(telo)centric chromosomes to form a single metacentric, is one of the most frequent events in mammalian karyotype evolution. (
  • 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. (
  • A deletion in the 1q21.1 region of chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. (
  • In the first pedigree, a 1-bp deletion in exon 13, resulting in truncation of the predicted protein to approximately one-fourth of its normal size, co-segregated with the disease phenotype. (
  • A deletion involves losing part of a chromosome and is sometimes known as a partial monosomy . (
  • When there is just one break in the chromosome, the deletion is called a terminal deletion because the end (or terminus) of the chromosome is missing . (
  • When the missing piece is closer towards the end of the chromosome, it is called a distal deletion . (
  • A deletion on 2q37 means that a segment on the long arm (q arm) of chromosome 2 at position 37 is missing or deleted. (
  • 2q37 deletion syndrome is a chromosome disease that can affect many parts of the body. (
  • The deletion occurs near the end of the chromosome (terminal deletion) at a location designated 2q37. (
  • Most individuals with the 2q37 deletion syndrome have a de novo chromosome deletion and their parents have normal chromosomes. (
  • The deletion occurs near the middle of the chromosome at a location designated as q11.2. (
  • 1q21.1 deletion syndrome is a rare aberration of chromosome 1. (
  • With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, because a part of the sequence of the chromosome is missing. (
  • In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the deletion is situated. (
  • The largest deletion seen on a living human is over 5 Mb. (
  • Because of the deletion and duplication process, the chromosomes that come together in a new cell may be shorter or longer. (
  • Medical geneticists and genetic counselors are health professionals with specialized training and experience in human and medical genetics and counseling who can give information and supportive counseling concerning many disorders or abnormalities. (
  • 1 Darwin had no concept of our understanding of modern genetics, and the conclusions we have reached were entirely inaccessible to him. (
  • American biologist Walter Sutton knew Mendel's principles of genetics work on peas, and suggested that chromosomes held the secret of inheritance. (
  • Not only do Mormon apologists have to deal with human genetics, they also have to explain the genetics of certain intestinal bacteria and domesticated dogs. (
  • Human Genome Project ( HGP ) displays us the vast foreground in human genetics. (
  • Chromosomes are at metaphase plate. (
  • what happens in metaphase 1? (
  • Chromosomes are usually (in the interphase) dispersed throughout the nucleus but become compacted during metaphase of cell division. (
  • Mendel's second principle, independent assortment , occurs because each pair of homologous chromosomes line up at the metaphase plate in meiosis I independently of all other pairs of homologous chromosomes. (
  • Cell division is arrested during metaphase, when the chromosome material is condensed. (
  • As in mitosis, chromosomes are aligned between the centrosomes in metaphase I. One kinetochore forms per chromosome pair, rather than one per chromatid. (
  • For chromosome 9, the book examines the discussion of the blood-typing genetic sequences. (
  • Identifying genes on each chromosome is an active area of genetic research. (
  • A 1q21.1 microduplication is a copied (duplicated) segment of genetic material at position q21.1 on one of the two copies of chromosome 1 in each cell. (
  • RARE GENETIC DISORDERS IN HUMANS Angleman Syndrome: Achondroplasia: It's a complex genetic disorder that mainly affects the nervous system in humans. (
  • Reports show that among 700 newborns, 1 suffers from Down A genetic condition that occurs due to low production of melanin and absence of color pigment in skin and eyes. (
  • Although it was originally thought that 97% of human Deoxyribonucleic acid: the chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms. (
  • The "suppressed-recombination" model of speciation points out that chromosome rearrangements act as a genetic filter between populations. (
  • Mutations associated with the rearranged chromosomes cannot flow from one to another population, whereas genetic exchange will freely occur between colinear chromosomes. (
  • The family of genetic conditions known as "trisomies" happen when certain cells have three, rather then two, chromosomes . (
  • Trisomy is a genetic condition in which cells have an extra chromosome. (
  • the strands of human genetic material tend to bunch together maddeningly, overlapping and intertwining like so much spaghetti. (
  • 1. Chromosome banding patterns provide independent confirmation of relationship in hominids, in addition to anatomical, physiological, genetic, and molecular evidence. (
  • As we know Homo sapiens or human beings are made from the information encoded in their genetic map which is written with DNA. (
  • Although such genetic happenings are common on the Y chromosome, scientists have also identified regions which contain palindromic sequences which seem to help the Y chromosome retain its active functions. (
  • CHAPTER 1 Introduction 1.1 Background In molecular biology, transcription and translation is the collective process by which the genetic code is read by enzymes in order to produce all of the proteins in an organism. (
  • While the objective of the Human Genome Project is to understand the genetic makeup of the human species, the project has also focused on several other nonhuman organisms such as E. coli , the fruit fly, and the laboratory mouse. (
  • The human genome is the complete set o f human genetic information. (
  • A review by Gagneux and Varki2 described a list of genetic differences between humans and the great apes. (
  • Genetic variation in Klinefelter individuals show three to four extra X chromosomes, extra Y-chromosomes or mosaics . (
  • It is a genetic disorder in which there is an extrax chromosome for a total of 47 chromosomes, and happens in 1in500to1in1000live male births it causes hypogonadism (decrease testosterone ), less muscular body, less facial and body hair , broader hips and teenagers10% have gynecomastia (large breasts), weaker bones and low energy the genetic variation is not reversible.With ivf technology10%successful preg. (
  • I realize that there is are extremely rare genetic situations where some sex chromosome abnormalities exists. (
  • Its purpose is to reduce the genetic complement by half to ensure restoration of the correct number of chromosomes upon union of two sex cells. (
  • During the period between completion of genome duplication and the first division, homologous maternal and paternal chromosomes pair with one another and exchange genetic material, culminating in formation of crossovers, which physically link the homologous chromosomes until they are separated at anaphase I. During the second genome division, the duplicated sister chromatids, which remain connected during meiosis I, are separated. (
  • Crossover formation depends on meiosis‐specific pairing of the homologues and genetic recombination between the homologues. (
  • i) During meiosis I (MI), the genetic complement is reduced by half ('reductional' division) by disjunction of homologous maternal and paternal chromosomes. (
  • These chromosomes consist of genetic material (DNA) needed for the production of proteins, which lead to growth, development, and physical/intellectual characteristics. (
  • Humans and other complex organisms produce massive amounts of non-coding RNAs, which may form another level of genetic output that controls differentiation and development. (
  • It is important to appreciate that the Human Genome Project is just the flagship of a fleet of studies to explore the molecular and genetic basis of life and its diversity, which will provide the scientific and technological "scaffolding" for understanding the human genome and human biology. (
  • What we have learned so far from genome sequencing is how little we know about our genetic programming ( Box 1 ). (
  • If this occurs around conception, the result will be a first cell of a human with a genetic variation. (
  • The point the two sister chromatids join together is called centromere, and the ends of chromosomes are called telomere. (
  • The familiar X shape actually refers to 2 identical chromosomes referred to as sister chromatids. (
  • 3. If the sister chromatids are pictured in an 'X' formation, is it reasonable to think of a chromosome as a stick figure? (
  • 4. How do the homologous sister chromatids pair up? (
  • When DNA gets replicated, each chromosome doubles its DNA quantity, resulting in a 'X' shaped chromosome made out of two sister chromatids. (
  • Thus each pair of homologous chromosomes have a total of 4 sister chromatids, 2 on each of the homologous chromosomes. (
  • 1 What is the purpose of mitosis (3)? (
  • MITOSIS , how many chromosomes will a daughter (newly made) cell have? (
  • Cell division in somatic cells (mitosis) results in the creation of daughter cells with the same number of chromosomes as the original cell, a total of 46 chromosomes in a human. (
  • A picture of chromosomes taken during mitosis and cut out and arranged into homologous pairs. (
  • When the diploid cells are duplicated and condensed during mitosis , the result is about 120 micrometers of chromosomes . (
  • During mitosis and meiosis, the condensed chromosomes are assembled through interactions between nucleosomes and other regulatory proteins. (
  • sequence of the human All the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (
  • Organisation== Most of the cells in multi-cellular organisms (human including) retain a complete copy of all DNA of the first cell from which the organism started to grow. (
  • It is often possible to clone the organism, or part of it, from a single cell, while doing so with a human cell has severe ethical implications. (
  • [1] The chromosome carries portions of the hereditary information of an organism. (
  • However, closer examination of the entire All the DNA contained within species of organisms, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (
  • The chromosomes are housed within the nucleus of the human cell. (
  • They are in the nucleus of every human cell. (
  • Division of a cell nucleus which results in each daughter cell having the same number of chromosomes as the parent cell. (
  • These 23 chromosomes reside within the nucleus of our cells. (
  • The "yolk" of our cell model is called the nucleus, and in this compartment there lies the object of our affections, the chromosomes. (
  • The number of chromosome in the cell nucleus differs somewhat from species to species. (
  • Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (
  • In telophase 1, cytokinesis divides the two diploid cells, and in most species, the chromosomes remain condensed and a nucleus does not re-form. (
  • New findings by University of California, Berkeley, scientists show that the cell's cytoskeleton, which moves things around in the cell, plays a critical role, essentially reaching into the nucleus to bring chromosome pairs together in preparation for recombination and segregation. (
  • This simple model of a nucleus with only one pair of chromosomes illustrates the process of synapsis - the pairing of homologous chromosomes. (
  • The patches form a bridge between the chromosomes and the cytoskeleton outside the nucleus. (
  • It is also possible to make a photomicrograph of a cell nucleus, cut it apart, and rearrange it so that the individual chromosomes are in order and labeled. (
  • It is written that if a cell is diploid, then it has 2 sets of chromosomes in the nucleus. (
  • 1. Are these 46 chromosomes aware of the existence of a 'mate' wanderding around the nucleus? (
  • Every 1 out of 4,000 males and 1 in every 8,000 females suffer from Fragile X syndrome. (
  • Hemophilia A affects 1 out of 4,000 males and hemophilia B affects 1 out of 20,000 newborn males. (
  • sequencing the male-specific region of the One of the two sex chromosomes that determines maleness in mammals, carried and passed down from males to males. (
  • Y chromosome evolved from the One of the two sex chromosomes, carried by males (1 copy) and females (2 copies) in mammals. (
  • Females have 2 X chromosomes and males have 1 X and 1 Y chromosomes. (
  • Males, on the other hand, only have one X chromosome, and if contains the white trait, the eyes of the fly must be white. (
  • In C.elegans (a nematode), the sexes differ in their chromosome numbers: the male is haploid for the sex chromosome (X,O) and the female is diploid (X,X) resulting in a total of 11 diploid chromosomes in males and 12 in females. (
  • There are two Xs in females but only a single X in males, whereas the autosomal chromosomes are present in duplicate in both sexes. (
  • The presence of a single autosome (a monosomy) is invariably an embryonic lethal event but monosomy for the X chromosome is viable because of dosage compensation, which assures equality of expression of most X-linked genes in females and males. (
  • Generally, males are affected with moderate mental retardation (since they only have one X chromosome) and females with mild mental retardation. (
  • This greater inclination occurs because males have only one copy of the X chromosome. (
  • In females, both sex chromosomes are X chromosomes (XX), while in males, there is one X and one Y chromosome (XY). (
  • It took another ten long years for Patricia Jacobs and J.A. Strong to demonstrate that the majority of males with KS have 47 chromosomes. (
  • Most males have one Y and one X chromosome. (
  • The first 22 pairs of chromosomes are the same in males and females. (
  • Males have only one X chromosome , which is inherited from the mother at conception, and they receive a Y chromosome from the father. (
  • These are allocated pairs 1 - 22 with pair 23 being the sex chromosomes, either xx for females and xy for males. (
  • Officially known as Procambarus virginalis but also called the Marmorkrebs, the crayfish has three sets of chromosomes. (
  • Telomeres have important functions such as preventing end-to-end fusion of chromosomes, assisting with chromosome pairing in meiosis, and ensuring complete replication of chromosome extremities. (
  • Mendel's first principle, segregation , is the direct result of the separation of homologous chromosomes during anaphase I of meiosis. (
  • Meiosis results in daughter cells with half the number of chromosomes of the parent cell. (
  • Cell division in the germ cells, eggs and sperm (meiosis), results in the creation of daughter cells with half the number of chromosomes as the original cell (haploid cells). (
  • Telomere-led chromosome movements are a conserved feature of meiosis I (MI) prophase. (
  • a) The aim of meiosis to reduce chromosome numbers by half (from a diploid cell [2n] to haploid sex cells [1n]) is achieved by a single round of genome duplication followed by two rounds of genome segregation. (
  • In fact, the cytoskeleton appears to encourage the dance of the chromosomes around the nuclear membrane as they search for their partners, and help make sure they have the right partner before meiosis continues. (
  • Errors during meiosis lead to age-related human infertility, and to birth defects such as Down syndrome and Klinefelter syndrome," said Abby Dernburg, UC Berkeley associate professor of molecular and cell biology and a Howard Hughes Medical Institute investigator. (
  • In early meiosis, the chromosomes attach by their pairing centers to proteins on the nuclear envelope, which are linked to the cytoskeleton of the cell. (
  • The cells with only red staining have not yet entered meiosis, while the cells stained both red and green have begun or completed chromosome pairing and synapsis. (
  • Meiosis is the process of dividing cells in humans. (
  • In meiosis, the chromosome pairs split and a representative of each pair goes to one daughter cell. (
  • a spontaneous deviation (a 'de novo' situation): two chromosomes come together of which one has a copy number variation as a result of the meiosis process. (
  • Ridley discusses the history of human kind as a genetically distinct species. (
  • Y chromosome (MSY) for the Two living species of ape in the genus Pan, including Pan troglodytes, the Common Chimpanzee, and Pan paniscust, also known as Bonobo or Pygmy Chimpanzee. (
  • Mutations adaptive to local conditions will, therefore, accumulate differentially in the protected chromosome regions so that parapatric or partially sympatric populations will genetically differentiate, eventually evolving into different species. (
  • According to Hull ( 1 ), "species fit as naturally into the idealized category of spatio-temporally localized individuals as do particular organisms" ( 2 ). (
  • In Muntiacus muntjac (a small SE Asian deer), the number of chromosomes differs between species: the Chinese subspecies has a haploid number of 23 (like humans) but the Assam subspecies has only 3 pairs of chromosomes. (
  • As noted above, the chromosome number varies in different species. (
  • 6 Y-chromosome A common variation in the sequence of DNA among individuals of a species or race. (
  • It has also been shown that regions of the Y chromosome are constantly being lost by either deletions or recombination which might - so some scientists believe - eventually wipe out the male species from the human race. (
  • I think human people should get more deference than ones from other species, and that is how it generally happens in society. (
  • It is an ordinarily paired [1] type of chromosome that is the same in both sexes of a species . (
  • Trinomial name Homo sapiens sapiens Linnaeus, 1758 Humans, or human beings, are bipedal primates belonging to the mammalian species Homo sapiens (Latin: wise man or knowing man) in the family Hominidae (the great apes). (
  • The X chromosome The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals (the other is the Y chromosome). (
  • The four resulting haploid cells carry the basic set of chromosomes characteristic for each species ( n ). (
  • The assembly of the final artificial bacterial chromosome with the imbedded natural genes and the "watermark" sequences was confirmed using several molecular techniques, and the chromosome ultimately inserted into a bacterial cell of a closely related yet distinctive species ( Mycoplasma capricolum ) where the original DNA had been expunged. (
  • What happens in anaphase 1? (
  • Kinetochores divide, and chromosomes migrate to the poles (anaphase 2), followed by telophase 2, in which haploid nuclei form. (
  • 6. In what stage does chromatin condense down to form a chromosome? (
  • 1. chromosomes condense and become reconizable as chromosomes 2. (
  • chromosomes continue to condense until it is two long strands called a chromotid 3. (
  • 1. the chromosomes condense to threadlike form they attach to their homologue (same type of father chromosome) and they swap information 2. (
  • It is only during cell division that the chromosomes condense and become detectable, like a long piece of wire suddenly coiling into a spring. (
  • Most chromosomes have the rough shape of an I when they condense prior to replication and are as bits of long invisible string when unwound. (
  • As chromosomes continue to condense, the sites of crossing over become visible as chiasmata. (
  • The staining pattern of each chromosome is unique and helps to identify individual chromosomes (along with the size). (
  • A print is developed, and the individual chromosomes are cut out and arranged in pairs by size order into a chart. (
  • DNA is composed of alternating sugar and phosphate groups, with the sugar attached to 1 of 4 possible nucleotide bases (adenosine, cytosine, guanine, thymidine). (
  • [1] In 1919, this discovery was followed by Phoebus Levene's identification of the base, sugar, and phosphate nucleotide unit. (
  • The Human Genome Project (HGP) endeavored to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in it. (
  • Huntington's Corea is used to discuss the use of a particular sequence on Chromosome Four to cause traumatic health consequences. (
  • It consists of a specific sequence of nucleotides at a given position on a given chromosome that codes for a specific protein (or, in some cases, an RNA molecule). (
  • We molecularly characterized the human endogenous retrovirus W family (HERV-W) family ( 1 ) by screening a placental cDNA library with a polymerase (pol) probe derived from a retroviral sequence named multiple-sclerosis associated retrovirus (MSRV) ( 2 ) isolated from biological samples from multiple sclerosis patients. (
  • Telomeres are distinctive structures which are found at the end of our chromosomes, made up of a short, repeating sequence of DNA bases. (
  • The complete sequence of all 20,000-25,000 human genes. (
  • [ 6 ] In May 2006, another milestone was passed on the way to completion of the project, when the sequence of the last chromosome was published in the journal Nature . (
  • GBP-1 consists of a globular domain (residues 1 to 278), which contains the GTP binding and hydrolysis domains, and of a helical domain (residues 279 to 593) terminated by a polybasic sequence and an isoprenylation motif (CAAX). (
  • The completion of the draft sequence of the human genome in 2001 was one of the great milestones of science. (
  • Determining the sequence has laid the foundations for determining the complete set of proteins that are produced in the human (the "proteome"), but we do not know the function of most of these proteins. (
  • Even when a protein sequence allows a reasonably confident prediction of the biochemical action of the protein, such as a probable tyrosine kinase or serine protease, the role of these proteins in human physiology and development has not yet been determined. (
  • 4. the pairing is directed by DNA sequence. (
  • Haploid ( n ) number is the number of chromosomes in germ cells (23 in humans), diploid (2 n ) number is the number of chromosomes in somatic cells (46 in humans). (
  • The type of cell division, which occurs in the ovaries and testes, to produce cells with a haploid number of chromosomes. (
  • In humans there are 46 chromosomes, or 23 pairs of chromosomes ( diploid ), in every cell except the mature egg and sperm which have a set of 23 chromosomes ( haploid ). (
  • The Human Genome Project originally aimed to map the nucleotides contained in a haploid reference human genome (more than three billion). (
  • Genome A complete haploid chromosome set. (
  • In a nutshell: The diploid cell contains two homologues of each chromosome, one parental and one maternal. (
  • How many chromosomes does each human cell have? (
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (
  • 3 How does the chromosome number change between the parent (original) and daughter (new) cell? (
  • How many chromosomes would be in the two cells after cell division takes place? (
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (
  • Chromosomes begin to migrate to cell equator. (
  • the spindle fibers pull the chromosomes to opposite ends of the cell 3. (
  • Such a hypothesis was supported by the observations that an anti-Env-W polyclonal antibody was able to inhibit heterologous fusion between a BeWo cell line and COS reporter cells ( 4 ) and that anti-ERVWE1 antisens oligonucleotides were able to inhibit primary human trophoblast cell fusion and differentiation ( 8 ). (
  • The human zygote is the cell that is formed by the union of the sperm and ovum. (
  • 1. Human development begins one cell zygote (zygote). (
  • Human cell with chromosomes, illustration. (
  • This naming is due to the capacity of chromosomes to take up histological stains more effectively than other cell structures. (
  • The part of a cell that controls the cell function and contains the chromosomes. (
  • They protect the ends of the chromosomes and every time a cell divides, the telomeres are shortened, losing between 25-200 bases. (
  • Normally, each cell in the human body carries 23 pairs of chromosomes. (
  • Full trisomies occur when every cell in the body has an extra chromosome. (
  • A normal human cell contains 23 pairs of chromosomes. (
  • There are four nitrogenous bases, Adenonine (A), Cytosine (C), Guanine (G), and Thymine (T). Under the base pairing rules, A pairs with T and G pairs with C. This allow cell to repair the DNA correctly if only one strand is damaged. (
  • A derivative of the autumn crocus plant, called colchicine, was found to arrest cell division when the chromosomes are at their most striking. (
  • A cell with all of the chromosomes untangled is located under the light microscope, and a photograph is taken. (
  • Chromosomes are visible only during cell division, when the DNA is super coiled and condensed to facilitate distribution into daughter cells. (
  • The Y chromosome makes up almost 2% of the total DNA in a cell. (
  • By detailed investigations of a 1q12 translocation to chromosome 2p, in a case of human B cell lymphoma, aberrant aHCF were shown to be localized to the nuclear periphery and to arise as a consequence of long range 'pairing' between the translocated 1q12 and chromosome 2 centromeric regions. (
  • [ 1 ] The first available assembly of the genome was completed in 2000 by the UCSC Genome Bioinformatics Group, composed of Jim Kent (then a UCSC graduate student of molecular, cell and developmental biology), Patrick Gavin, Terrence Furey, and David Kulp. (
  • Subsequently, it was reported that in vitro hGBP-1 expression can be induced by IFN-gamma in many different cell types including endothelial cells, fibroblasts, keratinocytes, B-cells, T-cells or peripheral blood mononuclear cells. (
  • Klinefelter patients have an extra female X chromosome giving them 47 chromosomes in every cell instead of 46. (
  • Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. (
  • Normally, each cell in the body contains 46 (23 pairs of) chromosomes. (
  • In prophase 2, centrosomes divide again, pulling bivalent chromosomes to the center of the cell. (
  • The whole goal of the cell at this developmental stage is to pair up homologous chromosomes, to reinforce that pairing through formation of the synaptonemal complex, to make crossovers between homologs, and then to separate the pairs into different daughter cells," said Dernburg, who is also a researcher at Lawrence Berkeley National Laboratory (LBNL) and a faculty affiliate of the California Institute for Quantitative Biosciences (QB3). (
  • The statements are made in reference to the work of Dr. Craig Venter and colleagues at the J. Craig Venter Institute ( JCVI ) when the team announced the success of efforts to replace the chromosome of a bacterial cell with a "chemically synthesized genome" (Gibson, 2010). (
  • The recipient bacterial cell ( M. capricolum ) had intact proteins and RNA molecules, which included all of the required, preformed, and functional enzymes to support self-replication once the new chromosome was inserted. (
  • During cell division the material composing the chromosome is compactly coiled, making it visible with appropriate staining and permitting its movement in the cell with minimal entanglement. (
  • A condition known as mosaicism results from an error in the distribution of chromosomes between daughter cells during an early embryonic cell division, producing two and sometimes three populations of cells with different chromosome numbers in the same individual. (
  • A human cell has one pair of identical chromosomes on chromosome 1. (
  • In this way the number of chromosomes will be halved in each cell, while all the parts on the chromosome (genes) remain, after being randomized. (
  • Due to the copy number variation chromosomes of different sizes can be combined in a new cell. (
  • the most tolerable of an intolerable condition (trisomies are the most common chromosome abnormalities in spontaneous abortions). (
  • Since then, the field of cytogenetics-linking chromosome abnormalities with syndromes-has proceeded more or less in fits and starts, with key developments in chromosome preparation explaining more and more once mysterious medical conditions. (
  • Either trisomy or monosomy involving the sex chromosomes yields relatively mild abnormalities. (
  • Chromatin is further condensed, through a process called supercoiling , and it is then packaged into structures called chromosomes . (
  • Chromosome painting probes highlight chromatin from the X (magenta) and Y (chromosomes). (
  • Within the chromosomes, chromatin proteins such as histones compact and organize DNA, which helps control its interactions with other proteins and thereby control which genes are transcribed. (
  • Human descent with modification (human evolution) is going to stand or fall on the results of genomic Determining the order of nucleotides in a DNA or RNA molecule, or the order of amino acids in a protein molecule. (
  • 1 Prior to that time, Determining the order of nucleotides in a DNA or RNA molecule, or the order of amino acids in a protein molecule. (
  • Ring finger protein 219 regulates inflammatory responses by stabilizing silent mating type information regulation 2 homolog 1 (SIRT1). (
  • Here, chromosome attachment sites at the nuclear envelope are marked by green fluorescent protein (GFP), while the chromosomes themselves are labeled with a red fluorescent protein. (
  • Once the chromosomes come together, a protein called dynein assesses whether or not the chromosomes are homologous and, if yes, allows formation of a zipper-like synptonemal complex between the two. (
  • To stabilize the chromosome pairs, protein links form along the length of the homologs, like a zipper. (
  • Humans have fewer protein-coding genes than expected, and most of these are highly conserved among animals. (
  • The first is that the number of protein-coding genes in humans is much lower than expected - it had been predicted that humans would have at least 100 000 genes (encoding different proteins), but this is not so. (
  • TCERG1L (transcription elongation regulator 1-like protein) is a 586 amino acid protein that contains two FF domains and two WW domains. (
  • Several protein-coding genes, including those that encode chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. (
  • In a few rare cases, the affected individuals have three to four extra X chromosomes (48,XXXY or 49,XXXXY) or extra Y-chromosomes. (
  • Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. (
  • Non-autosomal chromosomes are usually referred to as sex chromosomes , allosomes or heterosomes. (
  • Chromosomes are composed of long, threadlike molecules of DNA which twist around to form a spiral staircase or a double. (
  • [5] It represents about 8% of the total DNA in human cells. (
  • Organisms have a way to make identical copies of their chromosomes and put them in newly formed cells - but how? (
  • 64 chromosomes in each of its body cells. (
  • 1 - In order to survive, the individual must replace damaged cells. (
  • Most eukaryotic cells have 2 copies of every chromosome. (
  • Human cells have 23 pairs of chromosomes, which are visible under a standard light microscope. (
  • Inside your body, around 1 billion cells die every hour. (
  • At conception, when cells begin to divide, an extra chromosome may attach to a pair of chromosomes. (
  • This creates cells with 47 chromosomes rather than 46. (
  • In mosaic trisomies, only some cells contain the extra chromosome. (
  • People with partial trisomies have just part of the extra chromosome in their cells. (
  • Researchers learned to treat cells with a hypotonic solution to swell them, spreading apart the tangle of chromosomes. (
  • They could see that chromosomes came in pairs, and that human cells all contained 23 matching pairs. (
  • In vivo expression of hGBP-1 has been predominantly detected in inflammatory tissues and has been found to be associated almost exclusively with endothelial cells and monocytes. (
  • It has been shown subsequently that hGBP-1 expression in endothelial cells is also induced by other pro-inflammatory cytokines such as IFNalpha, TNFalpha and IL1alpha / IL1beta . (
  • Many other cytokines ( IL-4 , IL-6 , IL-10 , IL-18 ), chemokines ( MCP-1 , PF4 ) or growth factors ( angiopoietin-2 , PDGF B/B) tested did not affect GBP-1 expression in these cells. (
  • In addition, GBP-1 has been shown to be secreted from IFN-gamma-stimulated endothelial cells through a non-classical secretion pathway. (
  • Although most patients with Klinefelter's Syndrome have only one extra X chromosome in their cells, approximately 10% of the patients have different forms of the disorder. (
  • In a small proportion of the Klinefelter individuals, a few of the body cells may be normal while the others may have an additional X chromosome. (
  • Chromosome velocity analysis in live cells showed that while average chromosome velocity was strongly reduced in csm4 -3 , chromosomes in this mutant displayed occasional rapid movements. (
  • The human body has nearly 1013 cells. (
  • In eukaryotic cells, alleles exist in pairs-usually one allele is contributed by each parent. (
  • The movement is very obvious in the cells on the right side of this frame, which are actively pairing and synapsing their chromosomes, while the motion has slowed in the later-stage cells to the left, which have completed pairing and synapsis. (
  • Within cells, DNA is organized into structures called chromosomes . (
  • These chromosomes are duplicated before cells divide, in a process called DNA replication. (
  • There are 23 pairs of chromosomes in most normal human cells. (
  • Where needed, I'm using human cells for dicussion. (
  • the spermatogonia divide to form sperm cells, and 23 of your 46 chromosomes are randomly selected to get into each sperm. (
  • Different kinds of organisms have different numbers of chromosomes. (
  • Fungi associated with human dandruff have surprising similarity to other skin colonizing organisms, genome sequences reveal. (
  • 3.While 18 pairs of chromosomes are 'virtually identical', chromosomes 4, 9 and 12 show evidence of being 'remodeled. (
  • Women have 2 X chromosomes and men have an X and Y. The presence or absence of the Y chromosome determines the sex of your child. (
  • One specific pair of chromosomes determines the sex or gender of the individual. (
  • sequences would provide the answer to the question of why humans are so different from their closest living ancestors. (
  • This observation indicates that most of the Alu sequences in our genome underwent duplication and transposition [i.e., they were copied and distributed] before the divergence of the human and chimpanzee lineages. (
  • However, the fact that those human and chimp Alu sequences are in similar places on corresponding chromosomes could just as well indicate that at least some of them were intentionally placed there for a purpose. (
  • 2.At the end of each chromosome is a string of repeating DNA sequences called a telomere. (
  • Pairing can only take place at the PAR, because only those sequences are homologous, between the X and Y chromosomes. (
  • Second, the team partnered with a company to synthesize the DNA in ~1080 base-pair sequences. (
  • it is because there is 'something' in the DNA sequences of the 2 chromosomes that directs (your word)/propels/draws/attracts the two (homologous) chromosomes (each with their 2 chromatids) towards one-another? (
  • Is there any relation between the homologous pairs and the matching 2n chromosomes? (
  • Yes, there is a realtion between homologous pairs and 2n - there are 2 chromosomes(a homologous pair) for each one of the n. (
  • No. In eukaryotes including mammals and humans, each chromosome has multiple origins of replication and they are not in the centromeres. (
  • DNA replication begins at many, many places on the chromosome. (
  • The presence of inactivating mutations in the gag and pol genes of this provirus, termed ERVWE1 (OMIM 604659), led us to propose that Env function has been selectively preserved ( 1 ). (
  • Each gamete contains 23 chromosomes (one set) or __________________ (n) of chromosomes. (
  • Men on the other hand have an X and a Y. So, each of their sperm carries one of the 2 sex chromosomes, which sex chromosome is in the sperm that fertilizes the egg dictates the baby's sex. (
  • This comes about because of the fertilization of the female egg (with its 23 chromosomes, one of which is an X) with a sperm from the male (with its 23 chromosomes, one of which is either an X or a Y). (
  • This reduction in the number of chromosomes is important so that the original number of chromosomes is restored following fertilization of the egg by the sperm. (
  • requires the egg and the sperm to join and produce a ______________ (fertilized egg) that contains 46 chromosomes (two sets) or _____________________ (2n). (
  • Klinefelter s Syndrome occurs as the result of an error during the formation of an egg or a sperm that results in a person having a XXY combination or 47 chromosomes instead of the normal 46. (
  • This error usually occurs when the chromosomes are distributed during the division of the egg or the sperm. (
  • Called the synaptonemal complex, this zipper seems necessary to allow the homologues to break and recombine, thereby exchanging a set of genes between Mom and Dad before sending the chromosomes into the world aboard egg or sperm. (
  • This short-limbed dwarfism usually occurs in 1 out of every 15,000 to 40,000 newborns. (
  • Every year, this inherited blood disorder affects around 70,000 to 80,000 Americans and it occurs among 1 out of 500 African Americans and Hispanic Americans. (
  • According to the "hybrid-dysfunction" model, speciation occurs because hybrids with heterozygous chromosome rearrangements produce dysfunctional gametes and thus have low reproductive fitness. (
  • This syndrome occurs in an estimated 1 out of 10,000 live births. (
  • Scientists are not sure what other factors increase the risk as the error that produces the extra chromosome occurs at random. (
  • Out of the 23 pairs of chromosomes the sex chromosomes X & Y determine the sex of an embryo. (
  • a telomere located at each end of the linear chromosome. (
  • [4] There is also a telomere region within the human chromosome two, as well as a non-functional second centromere. (
  • Human and Chimpanzee Karyotypes packet (four figures: 2a-2d) on 4 pages. (
  • More than 99% of the one million copies of the Alu family of retrotransposons that are present in both [human and chimpanzee] genomes are in corresponding positions. (
  • 4 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (
  • Trisomy 21 , also called Down syndrome, is the most common mutation and happens when there are three chromosomes in the 21st location. (
  • Patau syndrome is a result of an extra chromosome in the 13th location, and is also known as Trisomy 13. (
  • In a condition called trisomy, two chromosomes are inherited from one parent and one is inherited from the other. (
  • Trisomy 21, also known as Down Syndrome, results when an individual has three copies of the autosome Chromosome 21. (
  • In the language of the geneticist, trisomy refers to the presence of an additional chromosome that is homologous with one of the existing pairs so that that particular chromosome is present in triplicate. (
  • Sex chromosomes X and Y are the 23rd pair in humans. (
  • Hence, the condensed forms of DNA (visible in the top part of this image as floppy, noodle-like structures called chromosomes ) come in pairs-one of each pair is inherited from each parent. (
  • The information molecule, the DNA, is tightly packed into structures called chromosomes which are responsible for carrying over the information from the parent to the offspring. (
  • He compares the human genome to chimpanzees , and ancestral primates . (
  • The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (
  • 1.Humans have 23 pairs of chromosomes while chimpanzees have 24. (
  • Now, tiny inversions (reversals in the banding pattern), duplications, deficiencies, and translocations (chromosomes that swap parts) could be noted by trained eyes. (
  • Whole-arm chromosome translocations involving the long arm of chromosome 1 are nonrandom aberrations in hematologic malignancies that commonly involve acrocentric chromosomes. (
  • Among them, unbalanced whole-arm translocations between chromosomes 1 and 13 are relatively rare cytogenetic aberrations and has been reported in both lymphoid and myeloid neoplasms. (
  • This model encounters a disabling difficulty: namely, how to account for the spread in a population of a chromosome rearrangement after it first arises as a mutation in a single individual. (
  • This results in a brand new set of mixture of paternal and maternal origin chromosomes each one of which may have undergone rearrangement. (
  • The smallest human chromosome is chromosome 21 (50 Mb) and the largest one is chromosome 1 (263 Mb). (
  • what happens in prophase 1? (
  • what happens inbetween telophase 1 and prophase 2? (
  • Prophase I begins with pairing of both homologues, resulting in a tetrad containing 4 homologous chromosomes. (
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (
  • But the synaptonemal complex can form between non-homologous regions of the chromosomes, so pairing has to be coordinated with synapsis, and synapsis has to be regulated so it happens only between homologous chromosomes. (
  • The largest autosome is Chromosome 1, which has about 2,800 genes. (
  • The second largest autosome is Chromosome 2, which contains about 750 genes. (
  • An autosome is a non-sex chromosome . (
  • The mapping of human genes is an important step in the development of medicines and other aspects of health care. (
  • Ridley concludes that the Human Genome Project is largely based on the inaccurate belief that there is one single human genome. (
  • It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project . (
  • Several groups have announced efforts to extend this to diploid human genomes including the International HapMap Project , Applied Biosystems , Perlegen, Illumina , JCVI , Personal Genome Project , and Roche-454 . (
  • Breakthroughs have been made in human genome research along with the implementation of human genome project. (
  • The launching point is when the human Genome Project is complete. (
  • The human genome project has raised many ethical, legal and social issues are tackled. (
  • Two copies of chromosome 1, one copy inherited from each parent, form one of the pairs. (
  • Each chromosome has a constriction point called the centromere , which divides the chromosome into two sections, or "arms. (
  • A mutation at the 16th chromosome, for instance, is thought to occur in about 1% percent of all pregnancies, but these pregnancies usually result in miscarriages during the first trimester due to severe defects in the fetus . (
  • Defects in meiotic homologue pairing and recombination contribute to infertility, birth defects and aneuploidy (e.g. (
  • The sex chromosomes are labeled X and Y. Karyotyping is useful in determining the presence of chromosome defects. (
  • Chromosomes, which consist of two identical chromatids joined at a centromere (light), are composed of deoxyribonucleic acid (DNA) coiled around proteins. (
  • But still, the chromosome pairs could not be distinguished very well, and researchers had to rely on such large-scale and subjective clues as chromosome size and position of the J centromere, a characteristically located constriction in each chromosome. (
  • The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes. (
  • The bases link across the two strands in a specific manner using hydrogen bonds: cytosine (C) pairs with guanine (G), and adenine (A) pairs with thymine (T). (
  • The double helix of the complete DNA molecule resembles a spiral staircase, with two sugar phosphate backbones and the paired bases in the centre of the helix. (
  • The human genome has 3 billion pairs of bases. (
  • DNA is a double helix made from two strands which are joined together by pairs of bases. (
  • The sugar and phosphoric acid were the sides of the ladder, and the rungs were the paired bases that were held together through hydrogen bonding. (
  • In 1953, based on X-ray diffraction images [7] taken by Rosalind Franklin and the information that the bases were paired, James D. Watson and Francis Crick suggested [7] what is now accepted as the first accurate model of DNA structure in the journal Nature . (
  • DNA consists of two complementary strands of bases that "pair up" to make a double-stranded or duplex molecule. (
  • By 1959, about all that could be discerned was an extra or missing chromosome (47 or 45 instead of 46), which might indicate Down syndrome or a sex chromosome anomaly, such as Turner's or Klinefelter's syndrome. (