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 homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Chromosomes, Human, Pair 1
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 21
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
Chromosomes, Human, 6-12 and X
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 22
The alignment of CHROMOSOMES at homologous sequences.
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 4
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 8
Chromosomes, Human, Y
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)
Chromosomes, Artificial, Bacterial
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 5
Chromosomes, Human, X
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
Chromosomes, Human, 1-3
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
Chromosomes, Human, Pair 15
Mapping of the KARYOTYPE of a cell.
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 20
In Situ Hybridization, Fluorescence
Chromosomes, Human, 16-18
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
Chromosomes, Artificial, Yeast
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Chromosomes, Human, 13-15
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
Chromosomes, Human, 21-22 and Y
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Aberrant chromosomes with no ends, i.e., circular.
Chromosomes, Human, 4-5
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
X Chromosome Inactivation
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Structures which are contained in or part of CHROMOSOMES.
Chromosomes, Human, 19-20
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
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).
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.
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.
Amino Acid Sequence
Nucleic Acid Hybridization
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Sequence Analysis, DNA
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Chromosomes, Artificial, Human
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.
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Chromosomal Proteins, Non-Histone
Repetitive Sequences, Nucleic Acid
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
An 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)
The process by which a DNA molecule is duplicated.
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.
Sequence Homology, Nucleic Acid
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.
Cell Cycle Proteins
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
Loss of Heterozygosity
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
Polymorphism, Restriction Fragment Length
DNA Transposable Elements
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Polymorphism, Single Nucleotide
Chromosome Fragile Sites
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.)
Genetic Predisposition to Disease
Sequence Tagged Sites
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.
Sequence Homology, Amino Acid
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Genes that are located on the X CHROMOSOME.
Sex Chromosome Disorders
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 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.
DNA Restriction Enzymes
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
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.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
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.
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.
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)
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.
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)
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Deoxyribonucleic acid that makes up the genetic material of plants.
Sister Chromatid Exchange
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.
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.
Nucleic Acid Conformation
Quantitative Trait, Heritable
Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (1/1744)Malignant glial tumors (anaplastic astrocytomas and glioblastomas multiforme) arise mostly either from the progression of low grade precursor lesions or rapidly in a de novo fashion and contain distinct genetic alterations. There is, however, a third subset of malignant gliomas in which genetic lesions remain to be identified. Following surgical resection, all gliomas appear to have an inherent tendency to recur. Comparative molecular analysis of ten primary malignant gliomas (three anaplastic astrocytomas and seven glioblastomas multiforme) with their recurrences identified two distinct subgroups of recurrent tumors. In one group, primary tumors harbored genetic aberrations frequently associated with linear progression or de novo formation pathways of glial tumorigenesis and maintained their genetic profiles upon recurrence. In the other subset with no detectable known genetic mutations at first presentation, the recurrent tumors sustained specific abnormalities associated with pathways of linear progression or de novo formation. These included loss of genes on chromosomes 17 and 10, mutations in the p53 gene, homozygous deletion of the DMBTA1 and p16 and/ or p15 genes and amplification and/or overexpression of CDK4 and alpha form of the PDGF receptor. Recurrent tumors from both groups also displayed an abnormal expression profile of the metalloproteinase, gel A, and its inhibitor, TIMP-2, consistent with their highly invasive behavior. Delineation of the molecular differences between malignant glioblastomas and their subsequent recurrences may have important implications for the development of rational clinical approaches for this neoplasm that remains refractory to existing therapeutic modalities. (+info)
Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. (2/1744)The PLZF gene was identified by its fusion with the RARalpha locus in a therapy resistant form of acute promyelocytic leukemia (APL) associated with the t(11;17)(q23;q21) translocation. Here we describe PLZF as a negative regulator of cell cycle progression ultimately leading to growth suppression. PLZF can bind and repress the cyclin A2 promoter while expression of cyclin A2 reverts the growth suppressed phenotype of myeloid cells expressing PLZF. In contrast RARalpha-PLZF, a fusion protein generated in t(11;17)(q23;q21)-APL activates cyclin A2 transcription and allows expression of cyclin A in anchorage-deprived NIH3T3 cells. Therefore, cyclin A2 is a candidate target gene for PLZF and inhibition of cyclin A expression may contribute to the growth suppressive properties of PLZF. Deregulation of cyclin A2 by RARalpha-PLZF may represent an oncogenic mechanism of this chimeric protein and contribute to the aggressive clinical phenotype of t(11;17)(q23;q21)-associated APL. (+info)
Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (3/1744)Twelve Barrett's adenocarcinomas have been analysed for the occurrence of allelic imbalance (LOH) on chromosome 17 using 41 microsatellite markers. This study provides evidence for 13 minimal regions of LOH, six on 17p and seven on 17q. Four of these centre in the vicinity of the known tumour suppressor genes (TSGs) TP53 (17p13.1), NFI (17q11.2), BRCA1 (17q21.1), and a putative TSG (17p13.3). The tumours all displayed relatively small regions of LOH (1-10 cM), and in several tumours extensive regions of LOH were detected. One tumour displayed only two very small regions of LOH; 17p11.2 and 17p13.1. The frequency of allelic imbalance has been calculated based on the LOH encompassing only one minimal region, and based on all the LOH observations. By both evaluations the highest LOH frequencies were found for regions II (p53), III (17p13.1 centromeric to p53), IV (17p12), V (17p11.2) and VII (NF1, 17q11.2). Our data supports the existence of multiple TSGs on chromosome 17 and challenges the view that p53 is the sole target of LOH on 17p in Barrett's adenocarcinoma. (+info)
Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma. (4/1744)The association of p53 abnormalities with the prognosis of patients with non-small cell lung carcinoma (NSCLC) has been extensively investigated to date, however, this association is still controversial. Therefore, we investigated the prognostic significance of p53 mutations through exons 2 to 11 and p53 protein expression in 103 cases of stage I NSCLC. p53 mutations were detected in 49 of 103 (48%) tumors. Two separate mutations were detected in four tumors giving a total of 53 unique mutations in 49 tumors. Ten (19%) of mutations occurred outside exons 5-8. Positive immunohistochemical staining of p53 protein was detected in 41 of 103 (40%) tumors. The concordance rate between mutations and protein overexpression was only 69%. p53 mutations, but not expression, were significantly associated with a shortened survival of patients (P<0.001). Furthermore, we investigated the correlation between the types of p53 mutations and prognosis. p53 missense mutations rather than null mutations were associated with poor prognosis (P < 0.001 in missense mutations and P=0.243 in null mutations). These results indicated that p53 mutations, in particular missense mutations, rather than p53 expression could be a useful molecular marker for the prognosis of patients with surgically resected stage I NSCLC. (+info)
Retinoic acid, but not arsenic trioxide, degrades the PLZF/RARalpha fusion protein, without inducing terminal differentiation or apoptosis, in a RA-therapy resistant t(11;17)(q23;q21) APL patient. (5/1744)Primary blasts of a t(11;17)(q23;q21) acute promyelocytic leukaemia (APL) patient were analysed with respect to retinoic acid (RA) and arsenic trioxide (As2O3) sensitivity as well as PLZF/RARalpha status. Although RA induced partial monocytic differentiation ex vivo, but not in vivo, As203 failed to induce apoptosis in culture, contrasting with t(15;17) APL and arguing against the clinical use of As203 in t(11;17)(q23;q21) APL. Prior to cell culture, PLZF/RARalpha was found to exactly co-localize with PML onto PML nuclear bodies. However upon cell culture, it quickly shifted towards microspeckles, its localization found in transfection experiments. Arsenic trioxide, known to induce aggregation of PML nuclear bodies, left the microspeckled PLZF/RARalpha localization completely unaffected. RA treatment led to PLZF/RARalpha degradation. However, this complete PLZF/RARalpha degradation was not accompanied by differentiation or apoptosis, which could suggest a contribution of the reciprocal RARalpha/PLZF fusion product in leukaemogenesis or the existence of irreversible changes induced by the chimera. (+info)
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (6/1744)Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an approximately 800-kb region. The MUL locus was refined into an approximately 1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes. (+info)
A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. (7/1744)Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by an abnormal susceptibility to infection with a specific group of related human papillomavirus (HPV) genotypes, including the oncogenic HPV5 associated with the skin carcinomas developing in about half of EV patients. EV is usually considered as an autosomal recessive condition. Taking EV as a model to identify a locus underlying the susceptibility to HPV infections, we performed a genome-wide search for linkage with 255 microsatellite genetic markers in three consanguineous EV families comprising six patients, using the homozygosity mapping approach. Homozygosity restricted to affected individuals was observed for a marker of chromosome 17q (D17S784) in two families and a marker about 17 centiMorgan (cM) distal (D17S1807) in the third family. Ten additional microsatellite markers spanning 29 cM in this region were analyzed. Two-point lod score values greater than 3 were obtained for four markers and multipoint linkage analysis yielded a maximum lod score of 10.17 between markers D17S939 and D17S802. Recombination events observed in two families allowed a candidate region for the EV susceptibility locus to be mapped to the 1 cM region defined by these two markers. The EV locus (named EV1) is included in the 17qter region recently found to contain a dominant locus for the susceptibility to familial psoriasis. It has been shown that patients suffering from psoriasis are likely to constitute the reservoir of HPV5. It is thus tempting to speculate that distinct defects affecting the same gene may be involved in the two skin conditions. (+info)
Localization of PS6K to chromosomal region 17q23 and determination of its amplification in breast cancer. (8/1744)The application of comparative genomic hybridization to the analysis of genetic abnormalities in breast carcinoma has consistently revealed that chromosome region 17q22-24 is a frequent site of gene amplification in this type of cancer. As part of an examination of expressed sequence tags for novel amplified genes in this region, we identified PS6K amplifications in both breast tumor tissues and cell lines. PS6K was localized to 17q23 and encodes a serine-threonine kinase whose activation is thought to regulate a wide array of cellular processes involved in the mitogenic response including protein synthesis, translation of specific mRNA species, and cell cycle progression from G1 to S phase. Northern and Western analyses revealed that amplification of this gene was accompanied by corresponding increases in mRNA and protein expression, respectively. These data represent the first determination of a gene amplification within 17q22-24 in breast cancer and suggest an oncogenic activity for PS6K. (+info)
Smith-Magenis syndrome - Wikipedia
Smith-Magenis Syndrome (SMS) is a genetic disorder with features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith-Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals. It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome. Facial features of children with Smith-Magenis syndrome include a broad face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge. The mouth curves downwards and the upper lip curves outwards. These facial features become more noticeable as the individual ages. Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night, due to an inverted circadian rhythm of melatonin. People with ...
Smith-Magenis syndrome - Wikipedia
Facial features of children with Smith-Magenis syndrome include a broad and square face, deep-set eyes, large cheeks, and a prominent jaw, as well as a flat nose bridge (in the young child; as the child ages it becomes more ski-jump shaped). Eyes tend to be deep-set and appear close together there is also a slant upwards. Eyebrows are heavy with lateral extension. The mouth is the most noticeable feature, both upper and lower lips are full, the mouth is wide. The mouth curves downwards and the upper lip curves outwards, due to a fleshy philtrum. These facial features become more noticeable as the individual ages, as Mandible growth outstrips that of the maxilla leading to a clear midface hypoplasia. There is also a mild brachycephaly.. Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night, due to an inverted circadian rhythm ...
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)
We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral …
DMOZ - Health: Conditions and Diseases: Genetic Disorders: Smith-Magenis Syndrome
Smith-Magenis Syndrome is a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), mental retardation, speech delays, and/or behavioral abnormalities.
Smith-Magenis Syndrome SEN Help | SEN Expert Solicitors, Boyes Turner
Smith-Magenis syndrome (SMS) is a genetic condition which causes noticeable physical characteristics and some cognitive difficulties. Children with SMS tend to...
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural...
Moshier, M. S., York, T. P., Silberg, J. L. and Elsea, S. H. (2012), Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. Journal of Intellectual Disability Research, 56: 996-1007. doi: 10.1111/j.1365-2788.2012.01581.x ...
Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome - ePrints Repository
Search of: Smith-Magenis Syndrome - List Results - ClinicalTrials.gov
The duration of wake after sleep onset period will be measured for the Circadin 2/5 mg and placebo by a Sleep and Nap Diary after 13 weeks of double-blind treatment ...
Smith-Magenis Syndrome - PubMed
Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies ascribed to an interstitial deletion of chromosome 17p11.2. Severe sleep disturbances and maladaptive daytime behavior have been linked to an abnor …
Obesity, Adiposity, and Satiety in mouse models of Smith-Magenis Syndr by Brooke Burns
Smith-Magenis syndrome (SMS) is a complex disorder caused by haploinsufficiency of RAI1 and characterized by sleep disturbances, behavioral abnormalities, mental retardation, and obesity in teens and adults. Rai1+/- mice are obese after 20 weeks. Dup(17)(p11.2) syndrome is a complex disorder associated with overexpression of RAI1. A transgenic mouse model of dup(17)(p11.2) syndrome overexpresses Rai1 and results in a mouse that is growth delayed. In order to characterize the obese phenotypes of mouse models of SMS and the role of RAI1 in obesity, daily food intake and serum levels of insulin, glucose, PPY, and leptin were measured; adiposity was studied by characterizing fat deposition; and gene expression was studied in the hypothalamus. These studies show that Rai1+/- mice are hyperphagic, consume more during the inactive light phase, and have altered satiety genes in the hypothalamus. Adiposity studies have shown WT females have a higher body fat content and visceral fat proportion than males,
Miller-Dieker Syndrome | SpringerLink
In 1963, Miller reported two siblings with a specific pattern of malformations in which lissencephaly was a key feature. Later in 1969, Dieker et al. described a similar condition. Jones et al. in ...
تاثیر یک برنامه کنترل ورم پستان بر برخی شاخصهای بهداشتی پستانها و کیفیت شیر در یک گله شیری بزرگ در استان تهران
هدف : ارزیابی میزان تاثیر یک برنامه کنترل ورم پستان بر برخی شاخصهای بهداشتی پستانها و کیفیت شیر گله. طرح : تجربه میدانی. حیوانات : یک گله بزرگ نژاد هلشتاین با میانگین 1150 راس گاو شیری. روش : ارزیابی وضعیت بهداشتی پستانها با استفاده از CMT و اخذ نمونه شیر به منظور کشت باکتریولوژی از 34/19 درصد گله دوشا، اجرای یک برنامه کنترل ورم پستان شامل درمان ضربتی استرپتوکوکوس آگالاکتیه، ضد عفونی سرپستانها پس از دوشش به روش اسپری با استفاده از محلول 5/2 درصد پاویدون آیوداین همراه با 5 درصد گلیسیرین، درمان ترکیبی گاوهای خشک، درمان عمومی تلیسههای آبستن سنگین، مدیریت بهداشتی
Natural History Study of Smith-Magenis Syndrome - Full Text View - ClinicalTrials.gov
Patients of all ages with SMS may be eligible for this study. They will be evaluated by a team of medical specialists at the NIH Clinical Center over the course of several days. Parents of patients will be asked to provide copies of past medical records and tests results for review. They will provide a family medical history and information on the child s prenatal, developmental, behavioral and medical histories.. The study may involve the following evaluations: physical, neurological and psychological exams; ear, nose and throat evaluation; speech, language and swallowing evaluation; hearing test; eye examination; imaging studies (e.g., X-rays, ultrasound, MRI); developmental and behavioral assessment; rehabilitation evaluation with gait (walking) analysis; urinalysis, blood, and/or skin cell studies; sleep study; other consultations as required. A tissue sample (blood or cheek swab or skin biopsy) may be taken for genetic studies. To obtain a cheek swab, a small brush is rubbed against the ...
ATPAF2 gene - Genetics Home Reference - NIH
From NCBI Gene:. This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]. From UniProt: ...
Upper digestive hemorrhage in a patient with von Recklinghausen neurofibromatosis
All information about the latest scientific publications of the Clínica Universidad de Navarra. Upper digestive hemorrhage in a patient with von Recklinghausen neurofibromatosis
Miller-Dieker syndrome is a genetic condition characterized by lissencephaly, typical facial features, and severe neurologic abnormalities. Symptoms may include severe intellectual disability, developmental delay, seizures, muscle stiffness, weak muscle tone and feeding difficulties. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. Treatment is symptomatic and supportive ...
Society Scene: Smith-Magenis Syndrome Research Foundation hosts second annual Siennas Steps 5K Run/Walk - tribunedigital...
On May 21, the Smith-Magenis Syndrome (SMS) Research Foundation will host the second annual Siennas Steps 5K Run/Walk at Memorial Hospital Miramar (located at 1901 S.W. 172nd Ave.).The 5K
VCU Researchers Find Alteration of Gene May Disrupt Our Bodies Internal Rhythm, Causing Sleep Disorder - Healthcanal.com :...
Earlier studies identified that mutation or deletion of the RAI1 gene results in Smith-Magenis Syndrome, a complex disorder characterized by obesity, sleep disturbances, negative behaviors and developmental delays.. How this disruption of RAI1 causes Smith-Magenis Syndrome is not fully understood, said Sarah H. Elsea, Ph.D., associate professor in the VCU Departments of Pediatrics and Human and Molecular Genetics in the VCU School of Medicine. One of the hallmarks of Smith-Magenis Syndrome is severe sleep disturbance, and through our current work, we have found that alteration of the expression or function of RAI1 disrupts the expression of other molecular clock genes, dysregulating circadian rhythm.. Circadian rhythms are physical, mental and behavioral changes that follow a roughly 24-hour cycle, responding primarily to light and darkness in the environment. In this current study, Elsea, graduate student Stephen Williams, Ph.D., and the research team have identified a novel and important ...
Meet Natalie - AUDM
We are kicking off this years blog posts with our wonderful Miracle Kid, Natalie Stephanouk! Natalie began receiving care at Piedmont Columbus Regional the day she was born. Since then, she has grown into the energetic and social 8-year-old we see at Main Event each year. View our Q&A with Natalies mom, Allison, to read what makes this Miracle Kid so special! Natalies miracle story:. Natalie is an 8 year old with Smith-Magenis Syndrome. She was born premature at 34 weeks at Piedmont Columbus Regional. She was in the NICU for four days until she was transferred for intestinal surgery and remained in the hospital for 7 weeks. A NICU nurse in the delivery room noticed a few very subtle abnormalities about Natalie on the day she was born. This initiated the testing that uncovered a missing piece of genetic material from one of her chromosomes. The disorder occurs in approximately 1 in 25,000 live births and is under-diagnosed. Smith-Magenis Syndrome causes global developmental delay, complex ...
Gene Ontology Classifications
Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008 ...
Gene Ontology Classifications
Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008 ...
one SpectrumGreen Alpha Satellite DNA probes for circumstan
We additional showed the mTOR pathway to be essential in regulating OXPHOS in breast cancer cells and observed that manipu lation Maraviroc CCR5 阻害剤 of express
Publications | BCM-HGSC | page 4
Kaplan K, McCool C, Lupski JR, Glaze D, Potocki L. Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A. 2019 ;179(10):1982-1986. ...
Most recent papers with the keyword hereditary neuropathy with liability to pressure palsies | Read by QxMD
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously ...
Charcot-Marie-Tooth Disease Type X (CMTX) - Charcot-Marie-Tooth News
Symptoms of Charcot-Marie-Tooth disease type X (CMTX) include muscle weakness and atrophy and decreased feeling in the feet, lower legs, hands, and arms.
Charcot-Marie-Tooth Disease Type 4B2
Relief is when you and the right researcher find each other Finding the right clinical trial for Charcot-Marie-Tooth Disease Type 4B2 can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity. ...
Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation)<...
TY - JOUR. T1 - Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). AU - Arvanitakis, Zoe. AU - Witte, Robert J.. AU - Dickson, Dennis W.. AU - Tsuboi, Yoshio. AU - Uitti, Ryan J.. AU - Slowinski, Jerzy. AU - Hutton, Michael L.. AU - Lin, Siong Chi. AU - Boeve, Bradley F.. AU - Cheshire, William P.. AU - Pooley, Robert A.. AU - Liss, Julie. AU - Caviness, John N.. AU - Strongosky, Audrey J.. AU - Wszolek, Zbigniew K.. PY - 2007/5/1. Y1 - 2007/5/1. N2 - The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation. Five affected subjects, one at-risk who later became symptomatic, and one at-risk asymptomatic mutation carrier, had abnormal 18fluorodeoxyglucose PET demonstrating asymmetric temporal lobe hypometabolism. All except the asymptomatic mutation carrier had abnormal brain MRI. ...
A total of 83 prostate adenocarcinomas was evaluated for allelic loss on chromosome 10 by analysis of loss of polymorphic microsatellite repeats. Initially, 64 stage B carcinomas were analyzed at 12 loci on chromosome 10. Nine cases showed loss of chromosome 10 sequences, with a fractional allelic loss of 20%. These nine cases were then analyzed at an additional 19 loci to define better the regions of loss. Four areas of loss were identified, including 10p (2 of 64 cases), 10q23.1 (7 of 64 cases), 10q23.3 (4 of 64 cases), and 10q26 (2 of 64 cases). Three loci in these regions, D10S111, D10S185, and D10S192, were then analyzed in 19 advanced (stage C and D) carcinomas. Seven (37%) of 19 advanced carcinomas showed allelic loss at one or more of these loci. A statistically significant increase in the fractional allelic loss at both D10S111 (10p) and D10S185 (10q23.1) was observed. Thus, a complex pattern of loss is seen on chromosome 10 in prostate carcinoma, with regions of loss on 10p and 10q, ...
Charcot-Marie-Tooth disease, Type 2E Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Charcot-Marie-Tooth disease, Type 2E information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Evolutionary and Structural Analyses of GDAP1, Involved in Charcot-Marie-Tooth Disease, Characterize a Novel Class of...
Laboratory - FAL Duiven B.V.
Farmaceutisch Analytisch Laboratorium Duiven B.V. (FAL Duiven) was founded in 1982, as a privately owned company and moved to the present purpose built premises in 1997.
Charcot-Marie-Tooth disease type 6 | definition of Charcot-Marie-Tooth disease type 6 by Medical dictionary
Looking for online definition of Charcot-Marie-Tooth disease type 6 in the Medical Dictionary? Charcot-Marie-Tooth disease type 6 explanation free. What is Charcot-Marie-Tooth disease type 6? Meaning of Charcot-Marie-Tooth disease type 6 medical term. What does Charcot-Marie-Tooth disease type 6 mean?
Charcot-Marie-Tooth Disease Fact Sheet | National Institute of Neurological Disorders and Stroke
What is Charcot-Marie-Tooth disease? What are the symptoms of Charcot-Marie-Tooth disease? What causes Charcot-Marie-Tooth disease? What are the types of Charcot-Marie-Tooth disease? How is Charcot-Marie-Tooth disease diagnosed? How is Charcot-Marie-Tooth disease treated? What research is being done? Where can I get more information?
Hereditary neuropathy with liability to pressure palsies Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Hereditary neuropathy with liability to pressure palsies information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Charcot-Marie-Tooth disease type 2A | Disease page | IUPHAR/BPS Guide to PHARMACOLOGY
The IUPHAR/BPS Guide to Pharmacology. Charcot-Marie-Tooth disease type 2A disease page. Quantitative data and detailed annnotation of the targets of licensed and experimental drugs.
Trisenox Approved as First-Line Tx for Acute Promyelocytic Leukemia - MPR
Trisenox (arsenic trioxide) injection has been approved in combination with tretinoin for the treatment of adults with newly-diagnosed low-risk acute promyelocytic leukemia (APL)
Lethal(2) giant larvae protein homolog 1
This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008 ...
Charcot-Marie-Tooth Disease Information and Facts - Disabled World
Charcot-Marie-Tooth Disease or CMT is a slow progression of weakness in the muscles as well as atrophy or wasting in the feet lower legs forearms and hands
Charcot-Marie-Tooth disease is an inherited nerve defect that causes abnormalities in the nerves that supply your feet, legs, hands, and arms.
Charcot-Marie-Tooth Disease Type I A Drug Market Growth Factor Details | Trade Calls
Contents of the 15 Chapter for This Charcot-Marie-Tooth Disease Type I A Drug Market Study:-. Chapter 1: to describe Global Charcot-Marie-Tooth Disease Type I A Drug Market Introduction, product scope, market overview, market opportunities, market risk, market driving force;. Chapter 2: to analyze the top manufacturers of Global Charcot-Marie-Tooth Disease Type I A Drug Market, with sales, revenue, and price of Global Charcot-Marie-Tooth Disease Type I A Drug Market, in 2016 and 2017;. Chapter 3: to display the competitive situation among the top manufacturers, with sales, revenue and market share in 2016 and 2017;. Chapter 4: to show the Global Charcot-Marie-Tooth Disease Type I A Drug market by regions, with sales, revenue and market share of Global Charcot-Marie-Tooth Disease Type I A Drug Market, for each region, from 2012 to 2017;. Chapter 5, 6, 7, 8 and 9: to analyze the key regions, with sales, revenue and market share by key countries in these regions;. Chapter 10 and 11: to show the ...
Molecular and hematologic relapses in adult patients with acute promyelocytic leukemia: a cohort study | Revista Brasileira de...
Objective. To evaluate factors predictive for relapse in a cohort of adult patients with acute promyelocytic leukemia monitored by molecular methods during consolidation and during at least one month of maintenance therapy.. Methods. The charts and laboratory data of 65 adult patients with acute promyelocytic leukemia treated according to the International Consortium on Acute Promyelocytic Leukemia 2006 protocol were reviewed. The identification of the promyelocytic leukemia-retinoic acid receptor-alpha gene rearrangement at diagnosis, post-induction, post-consolidation and during maintenance treatment was performed by qualitative and quantitative reverse transcription polymerase chain reaction.. Results. Eighty-nine patients were diagnosed with acute promyelocytic leukemia over a seven-year period and of these 65 were eligible for treatment with the protocol. Among the 45 patients who received consolidation and maintenance treatment, six (13%) relapsed, three of whom presented hematologic and ...
Charcot-Marie-Tooth disease type 4E | Rare Diseases | RareGuru
Information on Charcot-Marie-Tooth disease type 4E, which may include symptoms, causes, inheritance, treatments, orphan drugs, associated orgs, and other relevant data.
Hereditary Motor Neuropathy With Liability to Pressure Palsies (HNPP) - Neurologic Disorders - MSD Manual Professional Edition
Hereditary Motor Neuropathy With Liability to Pressure Palsies (HNPP) - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional Version.
Acute Promyelocytic Leukemia (APL): Treatment
Treatment of Children With Acute Promyelocytic Leukemia (APL)
Treatment of Acute Promyelocytic Leukemia (APL)
The treatment of most cases of acute promyelocytic leukemia differs from usual AML treatment. Learn more about APL treatment here.
Hereditary Neuropathies - Neurologic Disorders - Merck Manuals Professional Edition
Hereditary Neuropathies - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version.
A microgranular variant of acute promyelocytic leukemia with atypical morpho-cytochemical features and an early myeloid...
This report describes a unique case of acute promyelocytic leukemia (APL) showing elusive morphologic features, an atypical pattern of cytochemical reactions, and a previously unreported immunophenotype consistent with a very early myeloid form: CD13
List of Acute Promyelocytic Leukemia Medications (4 Compared) - Drugs.com
Compare risks and benefits of common medications used for Acute Promyelocytic Leukemia. Find the most popular drugs, view ratings, user reviews, and more...
Charcot-Marie-Tooth disease classifications - Wikipedia
Classifications of Charcot-Marie-Tooth disease refers to the types and subtypes of Charcot-Marie-Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. CMT is a result of genetic mutations in a number of genes.. ...
Charcot-Marie-Tooth Disease | Memorial Hospital
Learn more about Charcot-Marie-Tooth Disease at Memorial Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Oh my giddy aunt. Charcot-Marie-Tooth. When I was diagnosed, I too thought it might be useful to do some research. As it happens, with all the variations and other features, it seems to be an absolute goldmine for PhD candidates. All over the place, there are families and localities with their own barely discernible, finely calibrated differences from other families and other localities. By the time Id got through about 40 papers discussing half a dozen or a couple of hundred individuals and their associated genetic abnormalities, I thought Id had enough. Unless you go the whole hog as Kim Goodsell has done, there seems to be no way to find out what your own particular condition has in store for you. My diagnosis was for the Hereditary Neuropathy with Pressure Palsies version, not the classic Charcot-Marie-Tooth. So how come I had the whole deformed toes, ludicrous instep and wasting leg muscles of the classic diagnosis? As well as seeing my fathers hands deteriorate into the distinctive ...
Acute promyelocytic leukemia - Cancer Therapy Advisor
Cancer Therapy Advisor provides hematology professionals with the latest hematology conditions, procedures and guides for different surgical and non surgical conditions. Visit often for updates and new information.
Charcot-Marie-Tooth disease axonal type 2L - CMT2L Archives - Amsterdam UMC Genome Diagnostics
Charcot-Marie-Tooth disease axonal type 2P - CMT2P Archives - Amsterdam UMC Genome Diagnostics
Single cell Fluidigm analysis revealed two Myl2 positiv | Open-i
Single cell Fluidigm analysis revealed two Myl2 positive populations with distinct expression profiles.(a) Selected log2 fold-change estimates between Myl2 nega
HCC-1599 | Creative Bioarray
XX, -X, -X, -2, -5, -5, -5, +7, -9, +10, -11, -13, -13, -14, -15, -16, -17, -17, +18, +19, -20, -20, -20, -21, -22, -22, -22, +27-30mar, del(X)(q23), add(1)(p36)x2, der(1;3)(q10;q10 ...
CTNS is located on the p arm of human chromosome 17, at position 13.2. It spans base pairs 3,636,468 and 3,661,542, and ... The most common mutation is a 57,257 base pair deletion commonly referred to as the 57 kb deletion. This was formally known as ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "American Journal of Human Genetics. 63 (5): 1352-62. doi:10.1086/302118. PMC 1377545. PMID 9792862.. ...
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 ...
Trans-Golgi network vesicle protein 23 A
TVP23A is located on chromosome 16. It is known to have human paralogs, TVP23B and TVP23C, as well as orthologs in many ... The promoter for TVP23A is GXP_91266, spanning 1403 base pairs located on the negative strand of chromosome 16. The ... giving rise to TVP23A on chromosome 16 and TVP23B/C on chromosome 17, which then underwent a second duplication to form TVP23B ... There are two known isoforms of TVP23A, variant one and variant two, with variant one being the more common variant in humans. ...
Sex hormone-binding globulin
Rs727428 position 7634474 is in several percent of humans.. (TAAAA)(n) is five base pairs that repeats a variable number of ... In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... The gene for SHBG is called Shbg located on chromosome 17 on the short arm between the bands 17p12→p13. Overlapping on ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
The chromosome of strain KIM is 4,600,755 base pairs long; the chromosome of strain CO92 is 4,653,728 base pairs long. Like Y. ... In humans and other susceptible hostsEdit. Pathogenesis due to Y. pestis infection of mammalian hosts is due to several factors ... DNA evidence indicates Y. pestis infected humans 5,000 years ago in Bronze Age Eurasia, but genetic changes that made it ... It is a facultative anaerobic organism that can infect humans via the oriental rat flea. It causes the disease plague, which ...
... 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. ...
Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 17 in resolution 850 bphs Chr. Arm Band ISCN. start ISCN. stop Basepair. start ... Wikimedia Commons has media related to Human chromosome 17.. *. National Institutes of Health. "Chromosome 17". Genetics Home ...
Mixtures of light of these primary colors cover a large part of the human color space and thus produce a large part of human ... Our trichromatic color vision evolved by duplication of the long wavelength sensitive opsin, found on the X chromosome. One of ... Because of frequent recombination during meiosis, these gene pairs can get easily rearranged, creating versions of the genes ... Human red-green color blindness occurs because the two copies of the red and green opsin genes remain in close proximity on the ...
Human Y chromosome. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ... The DNA in the human Y chromosome is composed of about 59 million base pairs. The Y chromosome is passed only from father to ...
The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and ... Chorionic gonadotropin, beta polypeptide 5 is a protein that in humans is encoded by the CGB5 gene. This gene is a member of ... Couvelard, A; Paraf, F; Vidaud, D; Dubois, S; Vidaud, M; Fléjou, J. F.; Degott, C (2004). "Human chorionic gonadotrophin beta ... Eskild, A; Fedorcsak, P; Mørkrid, L; Tanbo, T. G. (2012). "Maternal body mass index and serum concentrations of human chorionic ...
Splice site mutation
The Human Splicing Finder is an online database stemming from the Human Genome Project data. The genome database identifies ... An intronic single base-pair substitution destroys an acceptor site, thus activating a cryptic splice site, leading to a 59 ... a potential stem-loop structure which is most likely involved in regulating the alternative splicing of exon10 in chromosome 17 ... "The Human Splicing Finder". Friedman, Lori (1994). "Confirmation of BRCA1 by analysis of germline mutations linked to breast ...
It is often used to infer distance along a chromosome. However, it is not a true physical distance. The number of base pairs to ... ISBN 0-7167-4366-3. ...in humans 1 centimorgan on average represents a distance of about 7.5x10E5 base pairs Kong, A (10 June ... One centimorgan corresponds to about 1 million base pairs in humans on average. The relationship is only rough, as the physical ... It is suggested that the unit of distance in a chromosome as defined above be termed a "morgan," on the analogy of the ohm, ...
Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded ... van Heyningen V, Little PF (1995). "Report of the fourth international workshop on human chromosome 11 mapping 1994". Cytogenet ... The characteristic paired DNA binding domain of Pax6 utilizes two DNA-binding domains, the paired domain (PD), and the paired- ... 6pax: CRYSTAL STRUCTURE OF THE HUMAN PAX-6 PAIRED DOMAIN-DNA COMPLEX REVEALS A GENERAL MODEL FOR PAX PROTEIN-DNA INTERACTIONS ...
O. volvulus has four chromosome pairs, which include a single pair of sex chromosomes. A large X sex chromosome and a smaller Y ... O. volvulus is primarily found in sub-Saharan Africa, and humans are the only known definitive host. It is spread from person ... One of the three nonsex chromosomes is thought to have formed by a fusion event between two smaller chromosomes. (Simplified ... When the female blackfly takes a blood meal, J3 juveniles pass into the human bloodstream. From here, the juveniles migrate to ...
In beetles, the first pair of wings has evolved into a pair of hard wing covers, while in Dipteran flies the second pair of ... The three small bones in the middle ear of mammals including humans, the malleus, incus, and stapes, are today used to transmit ... As a result, Hox genes in most vertebrates are spread across multiple chromosomes: the HoxA-D clusters are the best studied. It ... If the two pairs of wings are considered as interchangeable, homologous structures, this may be described as a parallel ...
Small nuclear RNA
However, U1 snRNP's abundance in human cells is far greater than that of the other snRNPs. Through U1 snRNA gene knockdown in ... The syndrome has been linked to the deletion of a region of paternal chromosome 15 that is not expressed on the maternal ... U1 snRNP is the initiator of spliceosomal activity in the cell by base pairing with the hnRNA. In the major spliceosome, ... Thus, U1 snRNA-pre-mRNA base pairing was shown to protect pre-mRNA from polyadenylation as well as premature cleavage. This ...
It can also occur during mitosis but at a much lower frequency because the chromosomes do not pair in a regular arrangement. ... and the human pathogens Candida albicans and Candida tropicalis. Parasexuality has become a useful tool for industrial ... Chiasma formation is common in meiosis, where two homologous chromosomes break and rejoin, leading to chromosomes that are ... so that one of the daughter nuclei has one chromosome too many (2n+1) and the other has one chromosome too few (2n-1). Such ...
Collagen, type VII, alpha 1
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 ... Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. This gene encodes the alpha chain of ... Greenspan DS, Byers MG, Eddy RL, Hoffman GG, Shows TB (1993). "Localization of the human collagen gene COL7A1 to 3p21.3 by ...
Crosslinking of DNA
In a diploid cell retrieval may also occur by pairing with a non-sister homologous chromosome, as occurs especially during ... In humans, the leading cause of cancer deaths worldwide is lung cancer, including non small cell lung carcinoma (NSCLC) which ... Retrieval can occur by pairing with a sister chromosome produced during a preceding round of replication. ... Therefore, accurate repair of the damage depends on retrieving the lost information from an undamaged homologous chromosome in ...
It is located between the 2,855,336 - 2,851,656 base pairs. SbtB is part of the S8A family inside the SB Clan as classified by ... It's located in the circular chromosome of this kind of microorganisms, which contains 2984 coding genes and 3,297,891 bit/s ( ... "Carbon dioxide-sensing in organisms and its implications for human disease". Cellular and Molecular Life Sciences. 71 (5): 831- ... In terms of the aminoacid sequence (1224 aminoacids), the sbtB gene has the following motifs: The circular chromosome of this ...
... is located on the q arm of Chromosome 11 in position 12.2 and spans 16,642 base pairs. The SDHAF2 gene produces a 6.7 ... on chromosome 11q23". American Journal of Human Genetics. 60 (1): 121-32. PMC 1712548. PMID 8981955. Gaal J, Burnichon N, ... formerly known as SDH5 and also known as SDH assembly factor 2 or SDHAF2 is a protein that in humans is encoded by the SDHAF2 ... Human Genetics. 95 (1): 56-62. doi:10.1007/bf00225075. hdl:2066/22047. PMID 7814027. S2CID 2324475. Kunst HP, Rutten MH, de ...
List of organisms by chromosome count
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 ... The diploid chromosome number is 2n = 14 with four pair of long acrocentric chromosomes ranging from 14.4 μm to 17.9 μm and ...
For example, in the Homininae, two chromosomes fused to produce human chromosome 2; this fusion did not occur in the lineage of ... For example, a specific 32 base pair deletion in human CCR5 (CCR5-Δ32) confers HIV resistance to homozygotes and delays AIDS ... Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then ... The committee of the Human Genome Variation Society (HGVS) has developed the standard human sequence variant nomenclature, ...
... 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. ...
The loss of chromosome Y (LOY) in blood cells is the most common human post zygotic mutation. It is highly associated with age ... These analogs do not have the same pairing properties of normal bases, therefore they can pair incorrectly with nucleotides ... Post- zygotic changes to a genome can be caused by small mutations that affect a single base pair, or large mutations that ... When an alkyl group is added to guanine, it can lead to the incorrect pairing with thymine and disrupt the accuracy of ...
Several platforms were developed to perform exome sequencing (a subset of all DNA across all chromosomes that encode genes) or ... light is produced as ATP is generated when nucleotides join with their complementary base pairs. Addition of one (or more) ... whole genome sequencing (sequencing of the all nuclear DNA of a human). RNA is less stable in the cell, and also more prone to ... 2008-04-17). "The complete genome of an individual by massively parallel DNA sequencing". Nature. 452 (7189): 872-876. Bibcode: ...
... with males having a ZZ pair of sex determining chromosomes, and females a ZW pair. However, the Colombian Rainbow boa, ... and are everted for reproduction via erectile tissue like that in the human penis. Only one is used at a time, and some ... but the toxicity of the bites is relatively low to humans. The Gila monster and beaded lizards of North and Central America ... Retrieved 17 September 2019.. Missing or empty ,title=. (help). *^ "First Aid Snake Bites". University of Maryland Medical ...
The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
The human NOBOX is located in chromosome 7q35 while the mouse NOBOX is in proximal chromosome 6. ... It contains an asparagine residue at position 51 which is important for its interactions with DNA base pairs. ... Homeobox protein NOBOX, also known as newborn ovary homeobox protein, is a protein that in humans is encoded by the NOBOX gene. ... The human NOBOX is a 14 kb protein and encoded by 8 exons. It has a proline rich C terminus and contains putative SH3 and WW ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene. ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Saint Barnabas Medical Center
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... 2009 First Paired Kidney Exchange in New Jersey Performed, Family Health Magazine, Spring/Summer 2006 - accessed July 11, 2009 ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... The division performed the first paired kidney exchange in New Jersey at Saint Barnabas Medical Center in 2005. Over time, it ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile. As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA). ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long. They can have a contour length of ...
... except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes ... For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal ... chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. Transgenic mice ... A chromosome in a diploid organism is hemizygous when only one copy is present. The cell or organism is called a hemizygote ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene. ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome. A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Fluorescence in situ hybridization
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes. ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ... 17: 387-399.. *^ Kukekova, A.V.; Trut, L.N.; Chase, K.; Shepeleva, D.V.; Vladimirova, A.V.; Kharlamova, A.V.; Oskina, I.N.; ...
... usually have a single circular chromosome, with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut. In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides. In the genus ...
... 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 ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes. This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
分子演化 - 维基百科，自由的百科全书
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級，即使降低個體的適應度，自私DNA仍然可以演化，造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者（meiotic drivers）、殺手X染色體（killer X chromosomes）、自私粒線體（
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... Voet, Judith G.; Voet, Donald (1995). "Chapter 17: Glycogen Metabolism". Biochemistry (2nd ed.). New York: J. Wiley & Sons. ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
MSH4, a enciclopedia libre
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
History of England
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... 17) • MTF1 • MYT1 • OSR1 • SP (1, 2, 4, 7) • WT1 • Zbtb7 (7A, 7B) • ZBTB (16, 17, 20, 32, 33, 40) • cink prst (3, 7, 9, 10, 19 ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ... "European Journal of Human Genetics. 15 (4): 498-500. doi:10.1038/sj.ejhg.5201764. PMID 17245410.. ...
Chromosomes, Human, Pair 17 - Semantic Scholar
Chromosome 17 spans more than 81 million base pairs and represents between 2.5 and 3% of the total DNA in normal diploid cells. ... The designation for each member of the seventeenth largest human autosomal chromosome pair. ... The designation for each member of the seventeenth largest human autosomal chromosome pair. Chromosome 17 spans more than 81 ... Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. ...
Chromosome 17 - Wikipedia
Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 17 in resolution 850 bphs Chr. Arm Band ISCN. start ISCN. stop Basepair. start ... Wikimedia Commons has media related to Human chromosome 17.. *. National Institutes of Health. "Chromosome 17". Genetics Home ...
Does chromosome 17 centromere copy number predict polysomy in breast cancer? A fluorescence in situ hybridization and...
... this pattern is believed to represent polysomy of chromosome 17. HER2-amplified cancers have been shown t … ... of breast cancers show increased copy numbers of chromosome 17 centromere (CEP17) by fluorescence in situ hybridization (FISH ... Chromosomes, Human, Pair 17* * Comparative Genomic Hybridization * Female * Gene Amplification * Gene Expression Regulation, ... Our results suggest that true chromosome 17 polysomy is likely to be a rare event in breast cancer and that CEP17 copy number ...
A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q.
Using radiation hybrid panels, the CAG/CTG repeat was mapped to chromosome 17q. The CAG/CTG repeat is hig ... we cloned a novel long CAG/CTG trinucleotide repeat on chromosome 17. ... Chromosome Mapping / methods. Chromosomes, Human, Pair 17 / genetics*. Genes, Dominant. Humans. Molecular Sequence Data. ... Next Document: Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4.... ...
Her-2 immunohistochemical expression in oral squamous cell carcinomas is associated with polysomy of chromosome 17, not Her-2...
Chromosome Aberrations. Chromosomes, Human, Pair 17 / genetics*. Female. Gene Amplification. Humans. Immunohistochemistry. In ... Previous Document: Phosphocreatine recovery overshoot after high intensity exercise in human skeletal muscle is associa.... ... As in invasive breast carcinomas Her-2 overexpression has been related to an increased number of chromosome 17 copies, a common ... Her-2 immunohistochemical expression in oral squamous cell carcinomas is associated with polysomy of chromosome 17, not Her-2 ...
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
Chromosome 17: MedlinePlus Genetics
... base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from ... Ensembl Human Map View. *Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 17. Genet Test ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
17q25 Locus is associated with white matter hyperintensity volume in ischemic stroke, but not with lacunar stroke status
CNN.com - The code of life - Apr 17, 2006
Human beings normally have 46 chromosomes in 23 matching pairs. We inherit half of our chromosomes from our mothers, half from ... Sequencing the human genome meant sifting through the three billion pairs of molecule pairs that make up our chromosomes to ... Along each chromosome chain, the adenine, thymine, cytosine, and guanine molecules are paired off, and unevenly arranged into ... strung together in pairs to form an extremely long chain, known as a chromosome. ...
topic:"Chromosomes, Human, Pair 9 - genetics" found 36 records • Arctic Health
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 -
Medical Terms | Memory and Aging Center
Humans typically have 23 pairs of chromosomes.. *chromosome 17q21 (FTDP-17): The chromosome that contains the gene for making ... Refers to any of the 22 paired chromosomes, or the genes on them, that are not the X or Y sex-determining chromosomes. ... disease-causing gene mutation on one chromosome of a pair and a normal allele at the same spot on the other matching chromosome ... base pair: Each base pair forms a "rung of the DNA ladder." They are the "letters" that spell out the genetic code; the ...
View source for Chromosome 17 - wikidoc
... is one of the 23 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. Chromosome 17 ... human_chromosome_images/links/5459f7ff0cf2cf516483fffd/Estimation-of-band-level-resolutions-of-human-chromosome-images.pdf}},/ ... Infobox chromosome , image = Human male karyotpe high resolution - Chromosome 17 cropped.png , caption = Human chromosome 17 ... Disease genes and chromosomes: disease maps of the human genome. Chromosome 17 , journal=Genet Test , year=1998 , pages=357-81 ...
Advanced Search Results - Public Health Image Library(PHIL)
Uncovering the Secrets of the X Chromosome : NPR
New research shows how the X and Y chromosomes evolved from a pair of regular chromosomes 300 million years ago. ... Scientists expose the X chromosomes complete genetic sequence. ... Drafting a Genetic Map of Human Diversity Feb. 17, 2005 Gene ... New research shows how the X and Y chromosomes evolved from a pair of regular chromosomes 300 million years ago. ... New research shows how the X and Y chromosomes evolved from a pair of regular chromosomes 300 million years ago. ...
Chromosome 16 - Wikipedia
Chromosome 16 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. ...
Stock Options Profits from Low Cost Gene Sequencing
There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. The ... called chromosomes. These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. ... These strands are paired, connected side to side along their lengths. Humans have 23 pairs of chromosomes. www.Options-Trading- ... The human genome is the sum total of all human genes.Human genes are present on long strands of DNA (complex molecules) called ...
Y chromosome - Wikipedia
Human Y chromosomeEdit. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ... The DNA in the human Y chromosome is composed of about 59 million base pairs. The Y chromosome is passed only from father to ...
B3 Flashcards by Erin Calder | Brainscape
How many pairs of chromosomes does the human body have in its cells ... In a parent cell with two chromosomes, each chromosome replicates itself. the chromosomes line up along the centre of the cell ... 3-The effect of cloning on a humans mental and emotional development isnt known.. 4-Religious views say that cloning humans ... To produce a required substance: e.g. the gene for human insulin can be inserted into bacteria to make insulin on a large scale ...
Asthma Gene Newly Uncovered - Scientific American
... of the 23 chromosome pairs in the human genome); elevated levels of the protein for which it codes were found in the white ... The gene, known as ORMDL3, is located on chromosome 17 ( ...
DNA - New World Encyclopedia
For instance, the largest human chromosome, chromosome number 1, is 220 million base pairs long. ... The set of chromosomes in a cell makes up its genome. The human genome has approximately 3 billion base pairs of DNA arranged ... The GC base pair is therefore stronger than the AT base pair. As a result, it is both the percentage of GC base pairs and the ... and in human cells the different chromosomes even occupy separate areas in the nucleus called "chromosome territories." ...
HCC38 ATCC ® CRL-2314™ Homo sapiens mammary gland; breast/d
Every chromosome pair had a least one rearrangement. No normal X chromosomes were observed and Y chromosomes were absent by QM ... This is a hyper-triploid human cell line with a modal chromosome number of 75. Homogeneously staining regions and dicentric ... No normal X chromosomes were observed and Y chromosomes were absent by QM staining. Normal copies of chromosomes 2,6,11,13,16 ... a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). ...
Ingolf Bach's research topics | Profiles RNS
Gradual selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the...
Chromosomes, Human, Pair 17; Codon/genetics; Epithelial Cells; Epithelium/metabolism; Oligodeoxyribonucleotides/genetics; ... Female; Humans; Models, Biological; Polymerase Chain Reaction; Cell Line; Heterozygote; Cell Division; *Genes, p53; *Point ... selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the immortalized human ... selection of a cellular clone presenting a mutation at codon 179 of the p53 gene during establishment of the immortalized human ...
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37.chromosomes, human, pair 17 8 ƪ5.333%. 38.cloning, molecular 8 ƪ5.333% ...
Recombinant Human Furin (Paired Basic Amino Acid Cleaving Enzyme) FURIN-605H - Creative BioMart
Corresponds to aa 108-714 of the human preproenzyme. Does not contain the C-terminal and transmembrane domains. MW = 81kDa. ... Chromosome Location:. 15q26.1. Pathway:. Metabolism of proteins; Signaling by Notch; Signaling by PDGF; Signaling by TGF beta; ... Recombinant Human Furin (Paired Basic Amino Acid Cleaving Enzyme). Download Datasheet See All FURIN Products. Bring this ... FURIN furin (paired basic amino acid cleaving enzyme) [ Homo sapiens ]. Synonyms:. FURIN; furin (paired basic amino acid ...
Associated Chromosome Trap for Identifying Long-range DNA Interactions | Protocol
The associated chromosome trap (ACT) assay is a novel unbiased method for identifying long-range DNA interactions. The ... Xu, N., Tsai, C. L., Lee, J. T. Transient homologous chromosome pairing marks the onset of X inactivation. Science. 311, 1149- ... Culture human cell line HL-60 in RPMI1640 medium with 15% FBS and 1 x penicillin/streptomycin to 80-90% confluence in an ... leading to co-localization of DNA segments which may exist on different chromosomes or far apart on the same chromosome. The ...
Coffee arabica genome sequenced for first time
... unlike many other plants and humans, which have only two chromosome sets. ... As a result of that hybrid crossing, C arabicas complex genome has four sets of chromosomes - ... about one-third that of the human genome. ... Plant material from one of the trees - UCG-17 Geisha - was used ... Using sequencing technology, the researchers estimated that UCG-17 Geisha has a genome made up of 1.19 billion base pairs - ...
Chapter 17 - Evidence for Evolution Flashcards by Cherilynn Yap | Brainscape
Study Chapter 17 - Evidence for Evolution flashcards from Cherilynn Yap ... Interestingly, humans have 23 pairs of chromosomes while chimpanzees have 24. How do scientists explain this? ... When comparing the chromosomes of humans and chimpanzees, scientists have found 16 instances of human ERVs matching exactly ... Scientists believe this can be explained by two small chromosomes found in chimpanzees having fused to form one of the human ...
Mutation rates - ISOGG Wiki
Mutation rate estimates for 110 Y-chromosome STRs combining population and father-son pair data. European Journal of Human ... Balanovsky O (2017). Toward a consensus on SNP and STR mutation rates on the human Y-chromosome. Human Genetics, published ... Mutation rate estimates for 110 Y-chromosome STRs combining population and father-son pair data. European Journal of Human ... Genomics and Human Genetics 15: 47-70.. Articles on mutation rates in the Y-chromosome. * ...
Prostate Cancer Genetic Backgrounder - National Human Genome Research Institute (NHGRI)
Background information accompanying a National Human Genome Research Institute to announce the discovery of the first gene ... When they cloned out the chunk of chromosome that they thought represented the HPC1 region, it was still 20 million base pairs ... There are two copies of every gene in the body (except for the sex chromosomes in men): one copy of a gene is inherited from ... We found linkage to a region on chromosome 1, on the long arm (1q24 to 1q31) back in 1996, Carpten said. We published the ...
GenomeGeneticsRegion of chromosomeProteinsPolysomy of chromosome 17AberrationsMutationAutosomalCopiesProteinRepeated sequencesMutationsDifferent chromosomesSpeciesTranslocationParkinsonismCentromereSpans2000MoleculesHomologous chromosome2017DeletionSequenceLociInactivationTrisomyMiceCopy of the X chromosomeGenes on the X chromosomeGene on chromosomeActive X chromosomeBacterial artificialDementiaChromosomalExpressionStrandsVariantsEpithelial CellsFemalesSomaticDuplicationDiploidStructuresChromatinGermlineAssaySyndromeSubunitOrganismMethylationEncodesCellResearchers use different approaches
- 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 ). (wikipedia.org)
- In 1999, science celebrated one of its greatest achievements, when Craig Venter of Celera Genomics and Francis Collins, director of the National Human Genome Research Institute announced that they had independently completed rough drafts of the sequence of the human genome. (cnn.com)
- Sequencing the human genome meant sifting through the three billion pairs of molecule pairs that make up our chromosomes to find the genes themselves. (cnn.com)
- What we did with sequencing the human genome,' Venter says, 'is leading to a better understanding of what causes disease. (cnn.com)
- The human genome is the sum total of all human genes. (slideshare.net)
- The human genome contains roughly 23,000 pairs of proteins that code or produce proteins. (slideshare.net)
- With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome . (wikipedia.org)
- Plant material from one of the trees - UCG-17 Geisha - was used for developing the C arabica genome sequence. (dailyexcelsior.com)
- As a result of that hybrid crossing, C arabica's complex genome has four sets of chromosomes - unlike many other plants and humans, which have only two chromosome sets. (dailyexcelsior.com)
- Using sequencing technology, the researchers estimated that UCG-17 Geisha has a genome made up of 1.19 billion base pairs - about one-third that of the human genome. (dailyexcelsior.com)
- Through the examination of the genome which is the closest living relatives to the human species? (brainscape.com)
- ERVs make up 8% of the human genome, and that other primates also possess some of the same ERVs in exactly the same locations in their genomes. (brainscape.com)
- This is because any retrovirus that became inserted into the genome of a common ancestor would be inherited by both chimpanzees and humans at exactly the same location in the chromosome. (brainscape.com)
- In essence,' Willard said, 'there is not one human genome, but two -- male and female. (latimes.com)
- Scientists estimate that there may be as many as 30,000 genes in the chemical DNA blueprint for human growth and development known as the human genome. (latimes.com)
- Researchers from a consortium of 14 institutions, including the National Human Genome Research Institute (NHGRI), Johns Hopkins Medical Institutes and the Cleveland Clinic, reported for the first time in the February 2002 issue of Nature Genetics that they have identified a gene on chromosome 1 that shows an association with an inherited form of prostate cancer in some families. (genome.gov)
- The study of this chromosome gives a clearer picture of how genome cha. (bio-medicine.org)
- The complete sequencing of human chromosome 17 and mouse chromosome 11 offers unique insights into the evolution of the genome of higher mammals, said a Baylor College of Medicine researcher who participated in this effort reported in today's issue of the journal Nature. (bio-medicine.org)
- However, scientists at Sanger dubbed a portion of chromosome 17 the Lupski segment because he has spent so much time dealing with that portion of the genome in his effort to identify gene mutations that result in disease. (bio-medicine.org)
- The study of this chromosome gives a clearer picture of how genome changes through evolution, Lupski said. (bio-medicine.org)
- Perhaps one way to evolve faster is not by making changes in base pairs (the chemicals that make up DNA), but by changing chunks of genome," said Lupski. (bio-medicine.org)
- Duplicated chromosome segments suggest that a genome duplication occurred in ray-fin phylogeny, and comparative studies suggest that this event happened deep in the ancestry of teleost fish. (zfin.org)
- Despite genome duplication, zebrafish and humans have about the same number of chromosomes, and zebrafish chromosomes are mosaically orthologous to several human chromosomes. (zfin.org)
- HOUSTON (March 17, 2005) If the human genome is indeed the "book of life," then the X-chromosome is all plot. (bio-medicine.org)
- Large numbers of medically related genes happen to fall on the X," said Dr. Steven Scherer, associate professor in the Baylor College of Medicine department of molecular and human genetics and director of mapping in the BCM Human Genome Sequencing Center. (bio-medicine.org)
- Although it contains a few important genes, it's almost like the appendix of the human genome. (bio-medicine.org)
- Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. (nature.com)
- Humans show individual differences in the number of crossovers generated across the genome. (nature.com)
- In humans, the number of crossovers occurring across the genome differs between individuals. (nature.com)
- The exploration of the human genome has long been relegated to elite scientists in research laboratories. (nytimes.com)
- This research is conducted in relation to three samples within nine biological feature sub-sets extracted from DNA sequence patterns (Human genome database). (bl.uk)
- As a result of generations of cross-species hybridization, the modern wheat genome is 17 Gb, has three nearly identical sub-genomes, each of which consist of seven pairs of chromosomes and is riddled with repeated DNA sequences. (thermofisher.com)
- We present a method, called fingerprint profiling (FPP), that uses restriction digest fingerprints of bacterial artificial chromosome clones to detect and classify rearrangements in the human genome. (biomedcentral.com)
- Our method has compelling potential for use as a whole-genome method for the identification and characterization of human genome rearrangements. (biomedcentral.com)
- For example, in the case of end sequencing approaches that sample only the clone's termini, deeply redundant clone sampling would be required to approach coverage of the human genome. (biomedcentral.com)
- Clone coverage of the human genome could then be achieved with only a small fraction of the clones required to achieve comparable genome coverage in clone end sequences. (biomedcentral.com)
- THURSDAY, Nov. 5 (HealthDay News) -- The genome of the domestic horse has been sequenced, an accomplishment that will improve the breeding of horses and may help studies of human health, according to an international team of researchers. (bio-medicine.org)
- By looking at the horse genome, we can better understand human biology and human diseases," James Murray, a professor of animal science at the University of California, Davis, said in a news release. (bio-medicine.org)
- By studying the horse genome, it may be possible to increase understanding of these diseases in humans, Murray noted. (bio-medicine.org)
- The researchers found that the horse genome is larger than the dog genome and smaller than the human and cow genomes. (bio-medicine.org)
- The U.S. National Human Genome Research Institute has more about sequencing a genome . (bio-medicine.org)
- Chromothripsis is a form of genome instability by which a presumably single catastrophic event generates extensive genomic rearrangements of one or a few chromosomes. (aacrjournals.org)
- In this study, an analysis of chromothripsis in 252 human breast cancers from two patient cohorts (149 metastatic breast cancers, 63 untreated primary tumors, 29 local relapses, and 11 longitudinal pairs) using whole-genome and whole-exome sequencing reveals that chromothripsis affects a substantial proportion of human breast cancers, with a prevalence over 60% in a cohort of metastatic cases and 25% in a cohort comprising predominantly luminal breast cancers. (aacrjournals.org)
- 1. 'The human genome is 24 strings of base pairs representing the X and Y chromosomes and the 22 autosomes' this is a direct quote from Griffith et al 2008 p455. (biology-online.org)
- 2. As pointed out by pbs.org/wgbh/nova/genome: A chromosome pair has identical banding. (biology-online.org)
- A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes. (ox.ac.uk)
- By analyzing the differential expression of TOP2A in 50 pairs of tumor and paracancerous tissue samples in The Cancer Genome Atlas (TCGA) database, the present study revealed that the expression of TOP2A was significantly higher in tumor tissue compared with that in paracancerous tissue (P=6.319x10‑16). (spandidos-publications.com)
- We describe a novel probabilistic mixture model, MixClone, for inferring the cellular prevalences of subclonal populations directly from whole genome sequencing of paired normal-tumor samples. (biomedcentral.com)
- Genomics and Human Genetics 15: 47-70. (isogg.org)
- Human Genetics , published online 28 April 2017. (isogg.org)
- American Journal of Human Genetics , published online 25 April 2016. (isogg.org)
- The work represents the first time that a mouse chromosome has been completely sequenced and annotated, said Dr. James R. Lupski, vice chair and professor in the BCM department of molecular and human genetics and professor of pediatrics. (bio-medicine.org)
- The opinion in Association for Molecular Pathology v. Myriad Genetics, Inc. striking down patents on naturally occurring human genes, even if they've been isolated. (groklaw.net)
- Human Genetics, 2nd Edition. (webref.org)
- Ambry Genetics was one of the first companies to announce that it would provide genetic diagnostic testing for the BRCA 1 and BRCA 2 genes on the day the U.S. Supreme Court announced its decision in AMP v. Myriad Genetics on the question of "whether human genes are patentable. (jdsupra.com)
- At present genetics does not allow for the dual nature of an individual and the fact that there are two sexes, because 23 pairs of chromosomes cannot account for this. (biology-online.org)
- Human genetics is the study of inheritance as it occurs in human beings. (euvolution.com)
- Study of human genetics can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. (euvolution.com)
Region of chromosome5
- It is the same region of chromosome 17 that is abnormally copied (duplicated) in people with a 17q12 duplication (described below). (medlineplus.gov)
- It is the same region of chromosome 17 that is deleted in people with 17q12 deletion syndrome (described above). (medlineplus.gov)
- A region of chromosome that carries information about, and controls, a particular inherited characteristic. (brainscape.com)
- Cytogenetic analysis was conducted using two probes, one specific for the NF1 region (RP11-229K15) and one for the centromeric region of chromosome 17 as control. (elsevier.com)
- No major component of the variation appeared to be associated with alleles of the met oncogene region of chromosome 6 or the H-2 region of chromosome 17. (elsevier.com)
- Chromosome 17 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. (medlineplus.gov)
- These genes produce proteins which in turn carry out a large variety of often complex functions in the human body. (slideshare.net)
- 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. (newworldencyclopedia.org)
- It is important that this process occurs otherwise a woman would produce twice the amount of normal X chromosome proteins. (euvolution.com)
Polysomy of chromosome 172
- HER2-amplified cancers have been shown to harbour complex patterns of genetic aberrations of chromosome 17, in particular involving its long arm. (nih.gov)
- An individual who has a recessive, disease-causing gene mutation on one chromosome of a pair and a normal allele at the same spot on the other matching chromosome. (ucsf.edu)
- We studied the occurrence of a p53 mutation along passages stored as frozen vials during establishment of a nontumorigenic human mammary epithelial cell line HMT-3522. (cnrs.fr)
- Human Y chromosome mutation rates by Larry Moran, Sandwalk blog, 1 September 2009. (isogg.org)
- Willems T, Gymrek M, Poznik GD, Tyler-Smith S, The 1000 Genomes Project Y-Chromosome Working Group, Erlich Y. Population-scale sequencing data enable precise estimates of Y-STR mutation rates . (isogg.org)
- The Y-chromosome point mutation rate in humans (letter). (isogg.org)
- Human Mutation. (zfin.org)
- The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation. (elsevier.com)
- The designation for each member of the seventeenth largest human autosomal chromosome pair. (semanticscholar.org)
- Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
- Neurofibromatosis type 1 (NF1) is a common autosomal dominant condition associated with germline mutations of the NF1 gene located at chromosome band 17q11.2. (elsevier.com)
- Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)they are called "dominant" because a single copyinherited from either parentis enough to cause this trait to appear. (euvolution.com)
- People normally have two copies of this chromosome. (wikipedia.org)
- As in invasive breast carcinomas Her-2 overexpression has been related to an increased number of chromosome 17 copies, a common chromosomal alteration in OSCC, we evaluated the association between polysomy 17 and Her-2 protein expression in a series of primary OSCC. (biomedsearch.com)
- Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 17. (medlineplus.gov)
- This chromosome segment is prone to rearrangement during cell division, which can lead to extra or missing copies of DNA at 17q12. (medlineplus.gov)
- The following structural rearrangements were observed in 30 metaphases: an acentric fragment in 2/30 metaphases, a minute in 3/30, a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). (atcc.org)
- There are two copies of every gene in the body (except for the sex chromosomes in men): one copy of a gene is inherited from the mother and one copy of the gene is inherited from the father. (genome.gov)
- Trisomy means that there are three copies, not two, of one of the pairs. (danielwillingham.com)
- Three copies of the 21st chromosome is Trisomy-21, also called Downs Syndrome. (danielwillingham.com)
- Three copies of the 18th chromosome give you Trisomy-18, also called Edwards Syndrome. (danielwillingham.com)
- In sexually reproducing organisms, each gene in an individual is represented by two copies, called alleles -one on each chromosome pair. (creationwiki.org)
- For decades, biologists have also known that cancer cells often have too few or too many copies of some chromosomes, a state known as aneuploidy. (news-line.com)
- Extra copies of the sex chromosomes can cause various disorders but are not usually lethal. (news-line.com)
- Humans carry two copies of each gene, one of which is inherited from the mother and one from the father. (hhmi.org)
- So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
- Protein expression was evaluated immunochistochemically with CB11 mouse monoclonal anti-human antibody. (biomedsearch.com)
- A gene on chromosome 19 involved in making a protein that helps carry cholesterol and other types of fat in the bloodstream. (ucsf.edu)
- The chromosome that contains the gene for making the protein tau. (ucsf.edu)
-  The human Y chromosome carries an estimated 100-200 genes, with between 45 and 73 of these protein-coding. (wikipedia.org)
- Furin is a protein that in humans is encoded by the FURIN gene. (creativebiomart.net)
- The synaptonemal complex is a 'zipper'-like protein assembly that synapses homologue pairs together and provides the structural framework for processing recombination sites into crossovers. (nature.com)
- It is a leading source of vegetable protein in human food, has multiple health benefits, and is among the highest contributors to trade among all crops. (thermofisher.com)
- We have evaluated the effects of human tau protein injected directly into the presynaptic terminal axon of the squid giant synapse, which affords functional, structural, and biochemical analysis of its action on the synaptic release process. (frontiersin.org)
- Employing yeast two-hybrid screening of a human embryonic kidney cDNA library with the carboxyl-terminal cytoplasmic domain of the AT1 receptor as a bait, we have isolated EP24.15 (EC 184.108.40.206, thimet oligopeptidase) as a potentially interacting protein. (embl.de)
- The chemokine receptor 5 (CKR5) protein serves as a secondary receptor on CD4 + T lymphocytes for certain strains of human immunodeficiency virus-type 1 (HIV-1). (sciencemag.org)
- The human GRB2 gene is telomeric to GGA3 (Golgi associated, gamma adaptin ear containing, ARF binding protein 3) and centromeric to ITGB4 (integrin, beta 4). (atlasgeneticsoncology.org)
- Clone REA741 recognizes the human CD300c antigen, a type I membrane protein, also known as CMRF-35, CLM-6, or CD300 antigen-like family member C. CD300c is expressed on monocytes, neutrophils, on subpopulations of T and B cells, and lymphocytic cell lines. (miltenyibiotec.com)
- Chorionic gonadotropin, beta polypeptide 5 is a protein that in humans is encoded by the CGB5 gene. (wikipedia.org)
- The discovery of mutations within the tau gene itself that cause clinical dementia (i.e., fronto-temporal dementia with Parkinsonism linked to chromosome 17 [FrDP17]) demonstrated that disruption of normal tau function independent of amyloidogenesis was sufficient to cause neuronal loss and clinical dementia. (elsevier.com)
- But the Y chromosome, having no female counterpart, doesn't get shuffled, so it stays pretty much the same from grandfather to father to son (save for any mutations that occur, which explains why the Y chromosome does differ among males). (livescience.com)
- To test their theory, the researchers conducted 18 simulations in which they created different scenarios for the bottleneck that included factors such as Y chromosome mutations, competition between groups, and death. (livescience.com)
- X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
- Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
- Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
- Gene expression can occur in specialized transcriptional factories where chromatin segments may loop out from various chromosome territories, leading to co-localization of DNA segments which may exist on different chromosomes or far apart on the same chromosome. (jove.com)
- In humans, the two genes encoding nonmuscle myosin heavy chains (NMHCs) are located on different chromosomes ( NMHC-A on 22q11.2 and NMHC-B on 17p13) ( 3 , 4 ) and, in a variety of species, these genes are expressed in a tissue-specific ( 5 - 7 ) and differentiation-dependent ( 8 - 10 ) manner. (pnas.org)
- But as the science has developed it has become possible to take a gene from one species and put it into an entirely different species in order to manipulate its characteristics and make it more useful to humans. (cnn.com)
- Y is normally the sex-determining chromosome in many species , since it is the presence or absence of Y that typically determines the male or female sex of offspring produced in sexual reproduction . (wikipedia.org)
- The experimentation with the DNA strands from different species suggests an increasing genetic distance between humans and the other primate groups as one progresses from chimpanzees, to gorillas, to orang-utans, to gibbons and to Old World monkeys. (brainscape.com)
- The genus Helicobacter includes bacterial species which colonizes the gastrointestinal tract (GIT) of human and other mammals. (hindawi.com)
- For example, breaks in synteny or the maintenance of the order of genes between species coincide with changes in the architecture of the chromosome itself. (bio-medicine.org)
- It is known to have human paralogs, TVP23B and TVP23C, as well as orthologs in many different species, notably yeast, mice, and chickens. (wikipedia.org)
- Because offspring inherit one chromosome from each parent, genes usually get shuffled around, increasing the diversity across species. (livescience.com)
- Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
- Human malaria is a complex infectious disease caused by protozoan parasites (Plasmodium species). (thefreelibrary.com)
- The panel included representatives of the 3 HRV species ( Figure ), human enteroviruses (HEVs), and extracts negative for picornaviruses. (cdc.gov)
- Because primer pair 1 had a published history of detecting types from all HRV species, we chose it to genotype HRV-positive samples by sequencing the amplified products. (cdc.gov)
- A type of blood cancer known as acute promyelocytic leukemia is caused by a rearrangement (translocation) of genetic material between chromosomes 15 and 17. (medlineplus.gov)
- This translocation, written as t(15;17), fuses part of the PML gene from chromosome 15 with part of the RARA gene from chromosome 17. (medlineplus.gov)
- The t(15;17) translocation is called a balanced reciprocal translocation because the pieces of chromosome are exchanged with each other (reciprocal) and no genetic material is gained or lost (balanced). (medlineplus.gov)
- Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or were acquired through the process of translocation . (wikipedia.org)
- Due to the locations of these three genes, and their identities to each other, it is probable that ancestral TVP23 underwent duplication and translocation, giving rise to TVP23A on chromosome 16 and TVP23B/C on chromosome 17, which then underwent a second duplication to form TVP23B and TVP23C. (wikipedia.org)
- The sonographic and foetopathologic findings of a pregnancy trisomy 17p11.2 - pter with the deletion of the terminal portion of the chromosome 6 due to paternal balanced translocation are described in this case report. (elsevier.com)
- Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. (semanticscholar.org)
- Does chromosome 17 centromere copy number predict polysomy in breast cancer? (nih.gov)
- This ploidy reduction is achieved through a series of meiosis-specific events, including pairing, synapsis, crossover formation between homologues, suppression of sister centromere separation during the first (reductional) division and separation of sister chromatids during the second (equational) division. (nature.com)
- The scientists also found an evolutionary new centromere on horse chromosome 11. (bio-medicine.org)
- Chromosome 17 spans more than 83 million base pairs (the building material of DNA ) and represents between 2.5 and 3% of the total DNA in cells . (wikipedia.org)
- Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells . (wikipedia.org)
- Life's construction set, DNA, is made up of four key molecules (adenine, thymine, cytosine, and guanine), strung together in pairs to form an extremely long chain, known as a chromosome. (cnn.com)
- Along each chromosome chain, the adenine, thymine, cytosine, and guanine molecules are paired off, and unevenly arranged into discrete segments called genes. (cnn.com)
- Human genes are present on long strands of DNA (complex molecules) called chromosomes. (slideshare.net)
- Definitely 2 DNA molecules, Its not that chromosomes have separate DNA molecules in them. (biology-online.org)
- Its that the 2 DNA molecules themselves are divided into fragments that constitute the chromosomes. (biology-online.org)
- DNA dating: How molecular clocks are refining human evolution's timeline by Bridget Alex and Priya Moorjani, The Conversation , 7 April 2017. (isogg.org)
- 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. (medlineplus.gov)
- Most people with 17q12 deletion syndrome are missing about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), on the long (q) arm of the chromosome at a position designated q12. (medlineplus.gov)
- Our mouse enhancer assays characterized three mouse brain enhancers that overlap an ASD-associated deletion and four mouse enhancers that reside in regions implicated in human evolution, two of which are active in the brain. (prolekare.cz)
- The team produced the first complete sequence of the X chromosome about two years after the decoding of the male Y chromosome. (latimes.com)
- This presented scientists with the opportunity to examine intensively the similarities and differences in the DNA sequence of human and mouse. (bio-medicine.org)
- An attempt has previously been made to map DNA methylation across human tissues, however, the means of distinguishing between methylated, unmethylated and differentially-methylated groups using DNA sequence features remains unclear. (bl.uk)
- Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin reaction, the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene. (jdsupra.com)
- Claim 17: The pair of primers of claim 16 wherein said BRCA1 gene has the nucleotide sequence set forth in SEQ ID NO:1. (jdsupra.com)
- A pair of single-stranded DNA primers of at least 15 nucleotides in length for determination of the nucleotide sequence of a BRCA2 gene by a polymerase chain reaction, the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA comprising all or at least 15 contiguous nucleotides of the BRCA2 gene. (jdsupra.com)
- or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. (google.com)
- CCL23 shares approximately 73% nucleotide sequence identity with leukotactin (MIP-1δ), and the two genes have been localized to human chromosome 17 within 200 kb of each other. (rndsystems.com)
- E ditor -The process of X chromosome inactivation was identified as early as 1960 when Ohno and Hauschka 1 described the presence of a pyknotic X chromosome in both benign and malignant cell lines. (bmj.com)
- Mary Lyon formalised the role of X inactivation and its relationship to dosage compensation of X chromosome genetic material in a letter to Nature in 1961. (bmj.com)
- While the Lyon hypothesis dictates that the X inactivation process is random, skewing of this process to the point of non-random X chromosome inactivation is a known mechanism associated with the development of X linked genetic diseases in females. (bmj.com)
- Our laboratory has been interested in the association of non-random X chromosome inactivation (NRXI) with ovarian cancer. (bmj.com)
- The gold standard for assessment of X chromosome inactivation status has been an evaluation of the androgen receptor (AR) gene polymorphism(s). (bmj.com)
- The X chromosome inactivation mechanism results in site specific cytosine methylation of the inactive chromosome. (bmj.com)
- The majority of papers relating to X chromosome inactivation use the AR model. (bmj.com)
- X chromosomes in females undergo a process known as X inactivation. (euvolution.com)
- X inactivation is when one of the two X chromosomes in females is almost completely inactivated. (euvolution.com)
- For people with disorders like trisomy X, where the genotype has three X chromosomes, X-inactivation will inactivate all X chromosomes until there is only one X chromosome active. (euvolution.com)
- Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely active X chromosome. (euvolution.com)
- However, a number of cells, including rat basophil leukemic cells ( 19 ) and human platelets ( 13 , 18 ), contain only myosin II-A, whereas a monkey kidney epithelial cell line (COS-7 cells) contains only myosin II-B. Furthermore, cardiac myocytes from newborn mice ( 8 ) and primary cultures of embryonic chicken cardiac myocytes were found to contain only NMHC-B and not NMHC-A ( 20 , 21 ). (pnas.org)
- Mice lacking SIX6OS1 are defective in chromosome synapsis at meiotic prophase I, which provokes an arrest at the pachytene-like stage and results in infertility. (nature.com)
Copy of the X chromosome2
- To avoid any toxic effect from double sets of X genes, female cells randomly choose one copy of the X chromosome and silence it -- or so scientists had believed. (latimes.com)
- The fact that men have just one copy of the X chromosome makes the mutated genes on that one piece of DNA much easier to find, said Scherer. (bio-medicine.org)
Genes on the X chromosome1
Gene on chromosome1
- The researchers reported an association between changes in a gene on chromosome 1 called ribonuclease L, or RNASEL, and an increased risk of developing prostate cancer in men from some families with a history of the disease. (genome.gov)
Active X chromosome1
- Eighteen randomly selected CEP17 polysomic cases and a control group of ten CEP17 disomic cases, as defined by dual-colour FISH, were studied by microarray-based comparative genomic hybridization (aCGH), which was performed on microdissected samples using a 32K tiling-path bacterial artificial chromosome microarray platform. (nih.gov)
- Presently, various array-based methods, such as the 32 K bacterial artificial chromosome (BAC) array and Affy 100 K SNP array [ 21 - 23 ], are the most common approaches to detecting and localizing copy number variants, which are one class of genomic variation. (biomedcentral.com)
- Tau is a candidate gene for chromosome 17 frontotemporal dementia. (semanticscholar.org)
- The association between polysomy 17 and Her-2 expression was checked by Fisher's exact test. (biomedsearch.com)
- In some OSCC Her-2 immunohistochemical expression may be associated with chromosome 17 polysomy and not Her-2 amplification. (biomedsearch.com)
- A proximal promoter region, approximately 200 bp in length, has been identified that contains many of the elements (including overlapping hepatic nuclear factor binding sites) necessary for properly regulated expression if it is paired with sequences in the first intron ( 11 - 13 ). (pnas.org)
- Normal human diploid cells placed in culture have a finite proliferative life-span and enter a nondividing state termed senescence, which is characterized by altered gene expression ( 1 , 2 ). (sciencemag.org)
- We recently demonstrated that telomerase activity can be reconstituted by transient expression of hTRT in normal human diploid cells, which express low levels of the template RNA component of telomerase (hTR) but do not express hTRT ( 18 ). (sciencemag.org)
- Expression of primary miR-21 ( pri-miR-21 ) is repressed by BLIMP-1 during IL-21-driven in vitro human plasmablast differentiation, despite continued STAT3 activation and pri-miR-21 promoter occupancy by phospho-STAT3. (jimmunol.org)
- We also identified the expression of the N terminal extended form of PDIP1alpha (referred to as PDIP1beta) consisting of 2649 amino acids (295 kDa) in human cultured cell lines by RT-PCR, and 5' rapid amplification of cDNA ends. (embl.de)
- We detected widespread expression of this NHE6 isoform in several rat tissues including 10-day fetus, 17-day fetus, and 30-day post-natal tissues of heart, brain, kidney and muscle. (embl.de)
- Males have one Y chromosome and one X chromosome , while females have two X chromosomes. (wikipedia.org)
- That ratio of 17 females for every one male "struck us as being very extreme, and there must be another explanation," said senior study author Marcus Feldman, a population geneticist at Stanford University in California. (livescience.com)
- Of these, the 23rd pair is what determines our sex: Whereas females have two X chromosomes, males have one X chromosome and one Y chromosome. (livescience.com)
- Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected. (prezi.com)
- From this analysis, author extract 47 features associated with gender and age, with 17 revealing significant methylation differences between males and females. (bl.uk)
- There are additional complications mentioned in the paper (such as not all humans having a simple XX or XY pair, or contamination by males/females messing up with the ratio of ancient samples of the opposite sex). (blogspot.com)
- Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. (semanticscholar.org)
- Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
- CISH showed that all cases with faint staining were diploid, while from the cases with moderate staining 10 were diploid and 12 polysomic for chromosome 17. (biomedsearch.com)
- During meiosis, two successive rounds of chromosome segregation occur following a single round of replication, resulting in the formation of haploid gametes from diploid progenitors 1 . (nature.com)
- The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same. (creationwiki.org)
- The maturation of germ line stem cells into gametes requires that the diploid number of each chromosome be reduced by half. (creationwiki.org)
- This reduction is accomplished through a process called meiosis , where one chromosome in a diploid pair is sent to each daughter gamete. (creationwiki.org)
- Within cells, DNA is organized into structures called chromosomes . (newworldencyclopedia.org)
- The genes are parceled out in 23 pairs of rod-like structures called chromosomes contained in every cell of the body. (latimes.com)
- All DNA is stored in each cell in structures we call chromosomes. (prezi.com)
- The most common tauopathy, Alzheimer's disease (AD), is also characterized by additional filamentous structures paired helical filaments (PHFs) and straight filaments (SFs). (frontiersin.org)
- Telomerase is active in germline cells and, in humans, telomeres in these cells are maintained at about 15 kilobase pairs (kbp). (sciencemag.org)
- The associated chromosome trap (ACT) assay is a novel unbiased method for identifying long-range DNA interactions. (jove.com)
- The Associated Chromosome Trap (ACT) assay provides an effective methodology to identify these long-range DNA associations in an unbiased fashion by extending and modifying the chromosome conformation capture technique. (jove.com)
- The two nonmuscle myosin II isoforms present in vertebrates differ in the rate at which they hydrolyze ATP and propel actin filaments in the in vitro motility assay ( 17 ). (pnas.org)
- Screening of a mouse 17-day fetus cDNA library with the Angiotensin II receptor AT2 as the bait in yeast two-hybrid assay led us to identify an AT2-interacting mouse fetus peptide that shared 98% amino acid identity with the corresponding region of the human NHE6. (embl.de)
- All single-copy Y-linked genes are hemizygous (present on only one chromosome) except in cases of aneuploidy such as XYY syndrome or XXYY syndrome . (wikipedia.org)
- Among humans, some men have two Xs and a Y ("XXY", see Klinefelter syndrome ), or one X and two Ys (see XYY syndrome ), and some women have three Xs or a single X instead of a double X ("X0", see Turner syndrome ). (wikipedia.org)
- Any deviation from this number can be fatal for cells, and several genetic disorders, such as Down syndrome, are caused by abnormal numbers of chromosomes. (news-line.com)
- It is known from mouse mutants and through human genetic analysis of families with non-obstructive azoospermia and premature ovarian failure, that alterations in these genes (that is, meiosis-specific cohesin subunit STAG3, and SYCE1) can result in meiotic arrest and human infertility 12 , 13 . (nature.com)
- The human telomerase reverse transcriptase subunit (hTRT) has been cloned ( 17 ). (sciencemag.org)
- The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. (wikipedia.org)
- In contrast, the active (unmethylated) X chromosome is sensitive to digestion by methylation specific restriction enzymes. (bmj.com)
- In order better to understand NRXI and the extent to which it may occur throughout a given X chromosome, it would be useful to evaluate the degree of methylation of multiple X chromosome markers. (bmj.com)
- DNA methylation is involved in various biological phenomena, and its dysregulation has been demonstrated as being correlated with a number of human disease processes, including cancers, autism, and autoimmune, mental health and neuro-degenerative ones. (bl.uk)
- Most therian mammals have only one pair of sex chromosomes in each cell. (wikipedia.org)
- 17-24 markers of unknown origin per cell. (atcc.org)
- This is a hyper-triploid human cell line with a modal chromosome number of 75. (atcc.org)
- A retrovirus only becomes endogenous if it inserts into a cell whose chromosomes will be inherited by the next generation, that is, an ovum or sperm cell. (brainscape.com)
- Each chromosome occupies a specific territory, that may change according to stage of development or cell cycle. (jove.com)
- Culture human cell line HL-60 in RPMI1640 medium with 15% FBS and 1 x penicillin/streptomycin to 80-90% confluence in an incubator supplied with 5% CO 2 at 37°C. (jove.com)
- If unwound and tied together, human DNA in one cell would stretch ~ 5 feet, but would be only 50 trillionths of an inch wide! (slideshare.net)
- Normal human cells undergo a finite number of cell divisions and ultimately enter a nondividing state called replicative senescence. (sciencemag.org)
- 2 This phenomenon, now known as the Lyon hypothesis, states that only one X chromosome is transcriptionally active in a given female cell. (bmj.com)
- Centromeres allow movement of chromosomes when cells divide, which ensures normal distribution of all genetic material to each daughter cell. (bio-medicine.org)
- Moreover, the AT2 co-immunoiprecipitated with a hemagglutinin tagged NHE6 when expressed in human cell line MCF-7, and activated by AngII. (embl.de)
- Aneuploidy occurs when cells make errors sorting their chromosomes during cell division. (news-line.com)