Areas of increased density of the dinucleotide sequence cytosine--phosphate diester--guanine. They form stretches of DNA several hundred to several thousand base pairs long. In humans there are about 45,000 CpG islands, mostly found at the 5' ends of genes. They are unmethylated except for those on the inactive X chromosome and some associated with imprinted genes.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Tracts of land completely surrounded by water.
A group of compounds which consist of a nucleotide molecule to which an additional nucleoside is attached through the phosphate molecule(s). The nucleotide can contain any number of phosphates.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
A pyrimidine analogue that inhibits DNA methyltransferase, impairing DNA methylation. It is also an antimetabolite of cytidine, incorporated primarily into RNA. Azacytidine has been used as an antineoplastic agent.
Interruption or suppression of the expression of a gene at transcriptional or translational levels.
A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.
Inorganic salts of sulfurous acid.
I'm sorry for any confusion, but "Rhode Island" is not a medical term or concept, it is actually the smallest state in the United States, located in the New England region. If you have any medical questions or terms you would like defined, I'd be happy to help!
Numerous islands in the Indian Ocean situated east of Madagascar, north to the Arabian Sea and east to Sri Lanka. Included are COMOROS (republic), MADAGASCAR (republic), Maldives (republic), MAURITIUS (parliamentary democracy), Pemba (administered by Tanzania), REUNION (a department of France), and SEYCHELLES (republic).
The islands of the Pacific Ocean divided into MICRONESIA; MELANESIA; and POLYNESIA (including NEW ZEALAND). The collective name Oceania includes the aforenamed islands, adding AUSTRALIA; NEW ZEALAND; and the Malay Archipelago (INDONESIA). (Webster's New Geographical Dictionary, 1988, p910, 880)
An enzyme that catalyzes the transfer of a methyl group from S-ADENOSYLMETHIONINE to the 5-position of CYTOSINE residues in DNA.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Enzymes that are part of the restriction-modification systems. They are responsible for producing a species-characteristic methylation pattern, on either adenine or cytosine residues, in a specific short base sequence in the host cell's own DNA. This methylated sequence will occur many times in the host-cell DNA and remain intact for the lifetime of the cell. Any DNA from another species which gains entry into a living cell and lacks the characteristic methylation pattern will be recognized by the restriction endonucleases of similar specificity and destroyed by cleavage. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
Addition of methyl groups. In histo-chemistry methylation is used to esterify carboxyl groups and remove sulfate groups by treating tissue sections with hot methanol in the presence of hydrochloric acid. (From Stedman, 25th ed)
DNA present in neoplastic tissue.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Tumor suppressor genes located on human chromosome 9 in the region 9p21. This gene is either deleted or mutated in a wide range of malignancies. (From Segen, Current Med Talk, 1995) Two alternatively spliced gene products are encoded by p16: CYCLIN-DEPENDENT KINASE INHIBITOR P16 and TUMOR SUPPRESSOR PROTEIN P14ARF.
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.
An island in the Gulf of St. Lawrence constituting a province of Canada in the eastern part of the country. It is very irregular in shape with many deep inlets. Its capital is Charlottetown. Discovered by the French in 1534 and originally named Ile Saint-Jean, it was renamed in 1799 in honor of Prince Edward, fourth son of George III and future father of Queen Victoria. (From Webster's New Geographical Dictionary, 1988, p981 & Room, Brewer's Dictionary of Names, 1992, p433)
Scattered islands in the Mediterranean Sea. The chief islands are the Balearic Islands (belong to Spain; Majorca and Minorca are among these), Corsica (belongs to France), Crete (belongs to Greece), CYPRUS (a republic), the Cyclades, Dodecanese and Ionian Islands (belong to Greece), MALTA (a republic), Sardinia and SICILY (belong to Italy). (From Webster's New Geographical Dictionary, 1988, p747)
The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.
A pyrimidine base that is a fundamental unit of nucleic acids.
The first nucleotide of a transcribed DNA sequence where RNA polymerase (DNA-DIRECTED RNA POLYMERASE) begins synthesizing the RNA transcript.
One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4). It recognizes and cleaves the sequences C/CGG and GGC/C at the slash. HpaII is from Haemophilus parainfluenzae. Several isoschizomers have been identified. EC 3.1.21.-.
Highly repeated sequences, 6K-8K base pairs in length, which contain RNA polymerase II promoters. They also have an open reading frame that is related to the reverse transcriptase of retroviruses but they do not contain LTRs (long terminal repeats). Copies of the LINE 1 (L1) family form about 15% of the human genome. The jockey elements of Drosophila are LINEs.
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).
A cell line derived from cultured tumor cells.
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)
A product of the p16 tumor suppressor gene (GENES, P16). It is also called INK4 or INK4A because it is the prototype member of the INK4 CYCLIN-DEPENDENT KINASE INHIBITORS. This protein is produced from the alpha mRNA transcript of the p16 gene. The other gene product, produced from the alternatively spliced beta transcript, is TUMOR SUPPRESSOR PROTEIN P14ARF. Both p16 gene products have tumor suppressor functions.
The systematic study of the global gene expression changes due to EPIGENETIC PROCESSES and not due to DNA base sequence changes.
A group of islands in the Lesser Antilles in the West Indies, the three main islands being St. Croix, St. Thomas, and St. John. The capital is Charlotte Amalie. Before 1917 the U.S. Virgin Islands were held by the Danish and called the Danish West Indies but the name was changed when the United States acquired them by purchase.
A methylated nucleotide base found in eukaryotic DNA. In ANIMALS, the DNA METHYLATION of CYTOSINE to form 5-methylcytosine is found primarily in the palindromic sequence CpG. In PLANTS, the methylated sequence is CpNpGp, where N can be any base.
The collective name for the islands of the Pacific Ocean northeast of Australia, including NEW CALEDONIA; VANUATU; New Hebrides, Solomon Islands, Admiralty Islands, Bismarck Archipelago, FIJI, etc. Melanesia (from the Greek melas, black + nesos, island) is so called from the black color of the natives who are generally considered to be descended originally from the Negroid Papuans and the Polynesians or Malays. (From Webster's New Geographical Dictionary, 1988, p748 & Room, Brewer's Dictionary of Names, 1992, p344)
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The collective name for islands of the Pacific Ocean east of the Philippines, including the Mariana, PALAU, Caroline, Marshall, and Kiribati Islands. (From Webster's New Geographical Dictionary, 1988, p761 & Room, Brewer's Dictionary of Names, 1992, p350)
A group of deoxyribonucleotides (up to 12) in which the phosphate residues of each deoxyribonucleotide act as bridges in forming diester linkages between the deoxyribose moieties.
A glutathione transferase that catalyzes the conjugation of electrophilic substrates to GLUTATHIONE. This enzyme has been shown to provide cellular protection against redox-mediated damage by FREE RADICALS.
Genes whose abnormal expression, or MUTATION are associated with the development, growth, or progression of NEOPLASMS.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
The relative amounts of the PURINES and PYRIMIDINES in a nucleic acid.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)
A family of calcium/calmodulin-dependent PROETIN-SERINE-THREONINE KINASES. They are ubiquitously expressed in adult and embryonic mammalian tissues, and their functions are tightly related to the early stages of eukaryotic programmed cell death.
A raf kinase subclass found at high levels in neuronal tissue. The B-raf Kinases are MAP kinase kinase kinases that have specificity for MAP KINASE KINASE 1 and MAP KINASE KINASE 2.
A group of four British islands and several islets in the English Channel off the coast of France. They are known to have been occupied prehistorically. They were a part of Normandy in 933 but were united to the British crown at the time of the Norman Conquest in 1066. Guernsey and Jersey originated noted breeds of cattle. (From Webster's New Geographical Dictionary, 1988, p242)
Any method used for determining the location of and relative distances between genes on a chromosome.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
One of the Indian Ocean Islands, east of Madagascar. Its capital is Saint-Denis. It was discovered in 1507 by the Portuguese and claimed by France in 1638. It was first colonized in 1662 as Isle de Bourbon but renamed Reunion in 1793. In 1946 it was made an overseas department of France. The name commemorates the reunion of the revolutionaries from Marseilles with the National Guard in Paris in 1792. (From Webster's New Geographical Dictionary, 1988, p1011; Room, Brewer's Dictionary of Names, 1992, p454; French Embassy)
A British colony in the Atlantic Islands, comprising two principal islands, East Falkland and West Falkland. Its capital is Stanley. Discovered in 1592, it was not occupied until the French settled there briefly in 1764. Later the English settled there but were expelled by the Spanish in 1770. The Falklands were claimed by Argentina but were occupied in 1833 by the British who, after an April 1982 invasion by Argentina, regained them in June. The islands were named by British Captain John Strong in 1690 for the fifth Viscount Falkland who financed Strong's expedition. The Spanish name for the islands, Malvinas, is from the French Malouins, inhabitants of St. Malo who attempted to colonize the islands in 1764. (From Webster's New Geographical Dictionary, 1988, p389 & Room, Brewer's Dictionary of Names, 1992, p182)
The collective name for the islands of the central Pacific Ocean, including the Austral Islands, Cook Islands, Easter Island, HAWAII; NEW ZEALAND; Phoenix Islands, PITCAIRN ISLAND; SAMOA; TONGA; Tuamotu Archipelago, Wake Island, and Wallis and Futuna Islands. Polynesians are of the Caucasoid race, but many are of mixed origin. Polynesia is from the Greek poly, many + nesos, island, with reference to the many islands in the group. (From Webster's New Geographical Dictionary, 1988, p966 & Room, Brewer's Dictionary of Names, 1992, p426)
The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
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.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A transcription factor that dimerizes with the cofactor CORE BINDING FACTOR BETA SUBUNIT to form core binding factor. It contains a highly conserved DNA-binding domain known as the runt domain.
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 relationships of groups of organisms as reflected by their genetic makeup.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Established cell cultures that have the potential to propagate indefinitely.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
A pattern recognition receptor that binds unmethylated CPG CLUSTERS. It mediates cellular responses to bacterial pathogens by distinguishing between self and bacterial DNA.
Methylases that are specific for CYTOSINE residues found on DNA.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
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.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Calcium-dependent cell adhesion proteins. They are important in the formation of ADHERENS JUNCTIONS between cells. Cadherins are classified by their distinct immunological and tissue specificities, either by letters (E- for epithelial, N- for neural, and P- for placental cadherins) or by numbers (cadherin-12 or N-cadherin 2 for brain-cadherin). Cadherins promote cell adhesion via a homophilic mechanism as in the construction of tissues and of the whole animal body.
Tumors or cancer of the STOMACH.
A technique for identifying specific DNA sequences that are bound, in vivo, to proteins of interest. It involves formaldehyde fixation of CHROMATIN to crosslink the DNA-BINDING PROTEINS to the DNA. After shearing the DNA into small fragments, specific DNA-protein complexes are isolated by immunoprecipitation with protein-specific ANTIBODIES. Then, the DNA isolated from the complex can be identified by PCR amplification and sequencing.
Formation of an acetyl derivative. (Stedman, 25th ed)
Tumors or cancer of the COLON.
Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.
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.
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 region of DNA which borders the 5' end of a transcription unit and where a variety of regulatory sequences are located.
Genotypic differences observed among individuals in a population.
A DNA-binding protein that interacts with methylated CPG ISLANDS. It plays a role in repressing GENETIC TRANSCRIPTION and is frequently mutated in RETT SYNDROME.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
The systematic study of the complete DNA sequences (GENOME) of organisms.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes

Detailed methylation analysis of the glutathione S-transferase pi (GSTP1) gene in prostate cancer. (1/4270)

Glutathione-S-Transferases (GSTs) comprise a family of isoenzymes that provide protection to mammalian cells against electrophilic metabolites of carcinogens and reactive oxygen species. Previous studies have shown that the CpG-rich promoter region of the pi-class gene GSTP1 is methylated at single restriction sites in the majority of prostate cancers. In order to understand the nature of abnormal methylation of the GSTP1 gene in prostate cancer we undertook a detailed analysis of methylation at 131 CpG sites spanning the promoter and body of the gene. Our results show that DNA methylation is not confined to specific CpG sites in the promoter region of the GSTP1 gene but is extensive throughout the CpG island in prostate cancer cells. Furthermore we found that both alleles are abnormally methylated in this region. In normal prostate tissue, the entire CpG island was unmethylated, but extensive methylation was found outside the island in the body of the gene. Loss of GSTP1 expression correlated with DNA methylation of the CpG island in both prostate cancer cell lines and cancer tissues whereas methylation outside the CpG island in normal prostate tissue appeared to have no effect on gene expression.  (+info)

Comparative sequence analysis of human minisatellites showing meiotic repeat instability. (2/4270)

The highly variable human minisatellites MS32 (D1S8), MS31A (D7S21), and CEB1 (D2S90) all show recombination-based repeat instability restricted to the germline. Mutation usually results in polar interallelic conversion or occasionally in crossovers, which, at MS32 at least, extend into DNA flanking the repeat array, defining a localized recombination hotspot and suggesting that cis-acting elements in flanking DNA can influence repeat instability. Therefore, comparative sequence analysis was performed to search for common flanking elements associated with these unstable loci. All three minisatellites are located in GC-rich DNA abundant in dispersed and tandem repetitive elements. There were no significant sequence similarities between different loci upstream of the unstable end of the repeat array. Only one of the three loci showed clear evidence for putative coding sequences near the minisatellite. No consistent patterns of thermal stability or DNA secondary structure were shared by DNA flanking these loci. This work extends previous data on the genomic environment of minisatellites. In addition, this work suggests that recombinational activity is not controlled by primary or secondary characteristics of the DNA sequence flanking the repeat array and is not obviously associated with gene promoters as seen in yeast.  (+info)

Inactivation of the DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation is a common event in primary human neoplasia. (3/4270)

The DNA repair protein O6-methylguanine DNA methyltransferase (MGMT) removes alkyl adducts from the O6 position of guanine. MGMT expression is decreased in some tumor tissues, and lack of activity has been observed in some cell lines. Loss of expression is rarely due to deletion, mutation, or rearrangement of the MGMT gene, but methylation of discrete regions of the CpG island of MGMT has been associated with the silencing of the gene in cell lines. We used methylation-specific PCR to study the promoter methylation of the MGMT gene. All normal tissues and expressing cancer cell lines were unmethylated, whereas nonexpressing cancer cell lines were methylated. Among the more than 500 primary human tumors examined, MGMT hypermethylation was present in a subset of specific types of cancer. In gliomas and colorectal carcinomas, aberrant methylation was detected in 40% of the tumors, whereas in non-small cell lung carcinomas, lymphomas, and head and neck carcinomas, this alteration was found in 25% of the tumors. MGMT methylation was found rarely or not at all in other tumor types. We also analyzed MGMT expression by immunohistochemistry in relation to the methylation status in 31 primary tumors. The presence of aberrant hypermethylation was associated with loss of MGMT protein, in contrast to retention of protein in the majority of tumors without aberrant hypermethylation. Our results suggest that epigenetic inactivation of MGMT plays an important role in primary human neoplasia.  (+info)

Methylation-associated silencing of the tissue inhibitor of metalloproteinase-3 gene suggest a suppressor role in kidney, brain, and other human cancers. (4/4270)

Tissue inhibitor of metalloproteinase-3 (TIMP-3) antagonizes matrix metalloproteinase activity and can suppress tumor growth, angiogenesis, invasion, and metastasis. Loss of TIMP-3 has been related to the acquisition of tumorigenesis. Herein, we show that TIMP-3 is silenced in association with aberrant promoter-region methylation in cell lines derived from human cancers. TIMP-3 expression was restored after 5-aza-2'deoxycytidine-mediated demethylation of the TIMP-3 proximal promoter region. Genomic bisulfite sequencing revealed that TIMP-3 silencing was related to the overall density of methylation and that discrete regions within the TIMP-3 CpG island may be important for the silencing of this gene. Aberrant methylation of TIMP-3 occurred in primary cancers of the kidney, brain, colon, breast, and lung, but not in any of 41 normal tissue samples. The most frequent TIMP-3 methylation was found in renal cancers, which originate in the tissue that normally expresses the highest TIMP-3 levels. This methylation correlated with a lack of detectable TIMP-3 protein in these tumors. Together, these data show that methylation-associated inactivation of TIMP-3 is frequent in many human tumors.  (+info)

Chlamydia infections and heart disease linked through antigenic mimicry. (5/4270)

Chlamydia infections are epidemiologically linked to human heart disease. A peptide from the murine heart muscle-specific alpha myosin heavy chain that has sequence homology to the 60-kilodalton cysteine-rich outer membrane proteins of Chlamydia pneumoniae, C. psittaci, and C. trachomatis was shown to induce autoimmune inflammatory heart disease in mice. Injection of the homologous Chlamydia peptides into mice also induced perivascular inflammation, fibrotic changes, and blood vessel occlusion in the heart, as well as triggering T and B cell reactivity to the homologous endogenous heart muscle-specific peptide. Chlamydia DNA functioned as an adjuvant in the triggering of peptide-induced inflammatory heart disease. Infection with C. trachomatis led to the production of autoantibodies to heart muscle-specific epitopes. Thus, Chlamydia-mediated heart disease is induced by antigenic mimicry of a heart muscle-specific protein.  (+info)

Molecular detection of tumor cells in bronchoalveolar lavage fluid from patients with early stage lung cancer. (6/4270)

BACKGROUND: Conventional cytologic analysis of sputum is an insensitive test for the diagnosis of non-small-cell lung cancer (NSCLC). We have recently demonstrated that polymerase chain reaction (PCR)-based molecular methods are more sensitive than cytologic analysis in diagnosing bladder cancer. In this study, we examined whether molecular assays could identify cancer cells in bronchoalveolar lavage (BAL) fluid. METHODS: Tumor-specific oncogene mutations, CpG-island methylation status, and microsatellite alterations in the DNA of cells in BAL fluid from 50 consecutive patients with resectable (stages I through IIIa) NSCLC were assessed by use of four PCR-based techniques. RESULTS: Of 50 tumors, 28 contained a p53 mutation, and the identical mutation was detected with a plaque hybridization assay in the BAL fluid of 39% (11 of 28) of the corresponding patients. Eight of 19 adenocarcinomas contained a K-ras mutation, and the identical mutation was detected with a mutation ligation assay in the BAL fluid of 50% (four of eight) of the corresponding patients. The p16 gene was methylated in 19 of 50 tumors, and methylated p16 alleles were detected in the BAL fluid of 63% (12 of 19) of the corresponding patients. Microsatellite instability in at least one marker was detected with a panel of 15 markers frequently altered in NSCLC in 23 of 50 tumors; the identical alteration was detected in the BAL fluid of 14% (three of 22) of the corresponding patients. When all four techniques were used, mutations or microsatellite instability was detected in the paired BAL fluid of 23 (53%) of the 43 patients with tumors carrying a genetic alteration. CONCLUSION: Although still limited by sensitivity, molecular diagnostic strategies can detect the presence of neoplastic cells in the proximal airway of patients with surgically resectable NSCLC.  (+info)

Genomic structure and expression of the mouse growth factor receptor related to tyrosine kinases (Ryk). (7/4270)

We report the genomic organization of the mouse orphan receptor related to tyrosine kinases (Ryk), a structurally unclassified member of the growth factor receptor family. The mouse RYK protein is encoded by 15 exons distributed over a minimum of 81 kilobases. Genomic DNA sequences encoding a variant protein tyrosine kinase ATP-binding motif characteristic of RYK are unexpectedly found in two separate exons. A feature of the gene is an unmethylated CpG island spanning exon 1 and flanking sequences, including a TATA box-containing putative promoter and single transcription start site. Immunohistochemical examination of RYK protein distribution revealed widespread but developmentally regulated expression, which was spatially restricted within particular adult organs. Quantitative reduction of Southern blotting stringency for the detection of Ryk-related sequences provided evidence for a retroprocessed mouse pseudogene and a more distantly related gene paralogue. Extensive cross-species reactivity of a mouse Ryk kinase subdomain probe and the cloning of a Ryk orthologue from Caenorhabditis elegans demonstrate that Ryk and its relatives encode widely conserved members of a novel receptor tyrosine kinase subfamily.  (+info)

Isolation of DNA fragments associated with methylated CpG islands in human adenocarcinomas of the lung using a methylated DNA binding column and denaturing gradient gel electrophoresis. (8/4270)

We have constructed a library of DNA fragments heavily methylated in human adenocarcinomas of the lung to permit the comprehensive isolation of methylated CpG islands in cancer. Heavily methylated genomic DNA fragments from tumors of nine male patients were enriched using a methylated DNA binding column and used for construction of the library. From this library, DNA fragments having properties of CpG islands were isolated on the basis of their reduced rate of strand dissociation during denaturing gradient gel electrophoresis. Approximately 1,000 clones, corresponding to 0.3% of the library were analyzed, and nine DNA fragments were identified as being associated with CpG islands that were methylated in tumor DNA. One CpG island was methylated specifically in tumor DNA, whereas the remaining eight CpG islands were methylated both in normal and tumor DNA derived from the same patients. Our results suggest that the number of CpG islands methylated specifically in tumors is not large. The library, which contains DNA fragments from methylated CpG islands comprehensively, is expected to be valuable when elucidating epigenetic processes involved in carcinogenesis.  (+info)

CpG islands are defined as short stretches of DNA that are characterized by a higher than expected frequency of CpG dinucleotides. A dinucleotide is a pair of adjacent nucleotides, and in the case of CpG, C represents cytosine and G represents guanine. These islands are typically found in the promoter regions of genes, where they play important roles in regulating gene expression.

Under normal circumstances, the cytosine residue in a CpG dinucleotide is often methylated, meaning that a methyl group (-CH3) is added to the cytosine base. However, in CpG islands, methylation is usually avoided, and these regions tend to be unmethylated. This has important implications for gene expression because methylation of CpG dinucleotides in promoter regions can lead to the silencing of genes.

CpG islands are also often targets for transcription factors, which bind to specific DNA sequences and help regulate gene expression. The unmethylated state of CpG islands is thought to be important for maintaining the accessibility of these regions to transcription factors and other regulatory proteins.

Abnormal methylation patterns in CpG islands have been associated with various diseases, including cancer. In many cancers, CpG islands become aberrantly methylated, leading to the silencing of tumor suppressor genes and contributing to the development and progression of the disease.

DNA methylation is a process by which methyl groups (-CH3) are added to the cytosine ring of DNA molecules, often at the 5' position of cytospine phosphate-deoxyguanosine (CpG) dinucleotides. This modification is catalyzed by DNA methyltransferase enzymes and results in the formation of 5-methylcytosine.

DNA methylation plays a crucial role in the regulation of gene expression, genomic imprinting, X chromosome inactivation, and suppression of transposable elements. Abnormal DNA methylation patterns have been associated with various diseases, including cancer, where tumor suppressor genes are often silenced by promoter methylation.

In summary, DNA methylation is a fundamental epigenetic modification that influences gene expression and genome stability, and its dysregulation has important implications for human health and disease.

I am not aware of a standard medical definition for the term "islands." In general, an island is a landmass that is surrounded by water. In a medical context, it might be used to describe isolated areas or structures within the body, such as islands of Langerhans in the pancreas which are clusters of cells that produce hormones like insulin. However, I would need more specific context to provide an accurate definition related to medicine.

Dinucleoside phosphates are the chemical compounds that result from the linkage of two nucleosides through a phosphate group. Nucleosides themselves consist of a sugar molecule (ribose or deoxyribose) and a nitrogenous base (adenine, guanine, cytosine, thymine, or uracil). When two nucleosides are joined together by an ester bond between the phosphate group and the 5'-hydroxyl group of the sugar moiety, they form a dinucleoside phosphate.

These compounds play crucial roles in various biological processes, particularly in the context of DNA and RNA synthesis and repair. For instance, dinucleoside phosphates serve as building blocks for the formation of longer nucleic acid chains during replication and transcription. They are also involved in signaling pathways and energy transfer within cells.

It is worth noting that the term "dinucleotides" is sometimes used interchangeably with dinucleoside phosphates, although technically, dinucleotides refer to compounds formed by joining two nucleotides (nucleosides plus one or more phosphate groups) rather than just two nucleosides.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

Azacitidine is a medication that is primarily used to treat myelodysplastic syndrome (MDS), a type of cancer where the bone marrow does not produce enough healthy blood cells. It is also used to treat acute myeloid leukemia (AML) in some cases.

Azacitidine is a type of drug known as a hypomethylating agent, which means that it works by modifying the way that genes are expressed in cancer cells. Specifically, azacitidine inhibits the activity of an enzyme called DNA methyltransferase, which adds methyl groups to the DNA molecule and can silence the expression of certain genes. By inhibiting this enzyme, azacitidine can help to restore the normal function of genes that have been silenced in cancer cells.

Azacitidine is typically given as a series of subcutaneous (under the skin) or intravenous (into a vein) injections over a period of several days, followed by a rest period of several weeks before the next cycle of treatment. The specific dosage and schedule may vary depending on the individual patient's needs and response to treatment.

Like all medications, azacitidine can have side effects, which may include nausea, vomiting, diarrhea, constipation, fatigue, fever, and decreased appetite. More serious side effects are possible, but relatively rare, and may include bone marrow suppression, infections, and liver damage. Patients receiving azacitidine should be closely monitored by their healthcare provider to manage any side effects that may occur.

Gene silencing is a process by which the expression of a gene is blocked or inhibited, preventing the production of its corresponding protein. This can occur naturally through various mechanisms such as RNA interference (RNAi), where small RNAs bind to and degrade specific mRNAs, or DNA methylation, where methyl groups are added to the DNA molecule, preventing transcription. Gene silencing can also be induced artificially using techniques such as RNAi-based therapies, antisense oligonucleotides, or CRISPR-Cas9 systems, which allow for targeted suppression of gene expression in research and therapeutic applications.

Epigenetics is the study of heritable changes in gene function that occur without a change in the underlying DNA sequence. These changes can be caused by various mechanisms such as DNA methylation, histone modification, and non-coding RNA molecules. Epigenetic changes can be influenced by various factors including age, environment, lifestyle, and disease state.

Genetic epigenesis specifically refers to the study of how genetic factors influence these epigenetic modifications. Genetic variations between individuals can lead to differences in epigenetic patterns, which in turn can contribute to phenotypic variation and susceptibility to diseases. For example, certain genetic variants may predispose an individual to develop cancer, and environmental factors such as smoking or exposure to chemicals can interact with these genetic variants to trigger epigenetic changes that promote tumor growth.

Overall, the field of genetic epigenesis aims to understand how genetic and environmental factors interact to regulate gene expression and contribute to disease susceptibility.

Sulfites are a group of chemical compounds that contain the sulfite ion (SO3−2), which consists of one sulfur atom and three oxygen atoms. In medical terms, sulfites are often used as food additives or preservatives, serving to prevent bacterial growth and preserve the color of certain foods and drinks.

Sulfites can be found naturally in some foods, such as wine, dried fruits, and vegetables, but they are also added to a variety of processed products like potato chips, beer, and soft drinks. While sulfites are generally considered safe for most people, they can cause adverse reactions in some individuals, particularly those with asthma or a sensitivity to sulfites.

In the medical field, sulfites may also be used as medications to treat certain conditions. For example, they may be used as a vasodilator to widen blood vessels and improve blood flow during heart surgery or as an antimicrobial agent in some eye drops. However, their use as a medication is relatively limited due to the potential for adverse reactions.

I'm sorry for any confusion, but "Rhode Island" is not a medical term or condition. It is actually the smallest state in the United States, located in the New England region. If you have any questions about medical conditions or terminology, I would be happy to help clarify those for you.

I'm sorry for any confusion, but "Indian Ocean Islands" is a geographical term referring to the islands located in the Indian Ocean, and not a medical term. However, I can provide some general information about these islands.

The Indian Ocean Islands include a diverse group of island nations and territories, such as Madagascar, Maldives, Seychelles, Mauritius, Comoros, Réunion (a French territory), and the British Indian Ocean Territory (including the Chagos Archipelago). These islands have unique ecosystems and diverse cultures, with flora and fauna that are often endemic to each island. Some of these islands face challenges in terms of healthcare access, resources, and infrastructure due to their remote locations and smaller populations.

I'm sorry for any confusion, but "Pacific Islands" is a geographic term referring to the islands located in the Pacific Ocean, and it is not a medical term. It includes thousands of islands spread across the Pacific Ocean, which are categorized into three main groups: Melanesia, Micronesia, and Polynesia.

If you have any medical terms you'd like defined, please let me know!

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

DNA modification methylases are a type of enzyme that catalyze the transfer of methyl groups (-CH3) to specific nucleotides in DNA, usually cytosine or adenine residues. This process is known as DNA methylation and is an important epigenetic mechanism that regulates gene expression, genome stability, and other cellular processes.

There are several types of DNA modification methylases, including:

1. Cytosine-5 methyltransferases (CNMTs or DNMTs): These enzymes catalyze the transfer of a methyl group to the fifth carbon atom of cytosine residues in DNA, forming 5-methylcytosine (5mC). This is the most common type of DNA methylation and plays a crucial role in gene silencing, X-chromosome inactivation, and genomic imprinting.
2. N6-adenine methyltransferases (MTases): These enzymes catalyze the transfer of a methyl group to the sixth nitrogen atom of adenine residues in DNA, forming N6-methyladenine (6mA). This type of DNA methylation is less common than 5mC but has been found to be involved in various cellular processes, such as transcriptional regulation and DNA repair.
3. GpC methyltransferases: These enzymes catalyze the transfer of a methyl group to the second carbon atom of guanine residues in DNA, forming N4-methylcytosine (4mC). This type of DNA methylation is relatively rare and has been found mainly in prokaryotic genomes.

Dysregulation of DNA modification methylases has been implicated in various diseases, including cancer, neurological disorders, and immunological diseases. Therefore, understanding the function and regulation of these enzymes is essential for developing novel therapeutic strategies to treat these conditions.

A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.

The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Neoplastic gene expression regulation refers to the processes that control the production of proteins and other molecules from genes in neoplastic cells, or cells that are part of a tumor or cancer. In a normal cell, gene expression is tightly regulated to ensure that the right genes are turned on or off at the right time. However, in cancer cells, this regulation can be disrupted, leading to the overexpression or underexpression of certain genes.

Neoplastic gene expression regulation can be affected by a variety of factors, including genetic mutations, epigenetic changes, and signals from the tumor microenvironment. These changes can lead to the activation of oncogenes (genes that promote cancer growth and development) or the inactivation of tumor suppressor genes (genes that prevent cancer).

Understanding neoplastic gene expression regulation is important for developing new therapies for cancer, as targeting specific genes or pathways involved in this process can help to inhibit cancer growth and progression.

Methylation, in the context of genetics and epigenetics, refers to the addition of a methyl group (CH3) to a molecule, usually to the nitrogenous base of DNA or to the side chain of amino acids in proteins. In DNA methylation, this process typically occurs at the 5-carbon position of cytosine residues that precede guanine residues (CpG sites) and is catalyzed by enzymes called DNA methyltransferases (DNMTs).

DNA methylation plays a crucial role in regulating gene expression, genomic imprinting, X-chromosome inactivation, and suppression of repetitive elements. Hypermethylation or hypomethylation of specific genes can lead to altered gene expression patterns, which have been associated with various human diseases, including cancer.

In summary, methylation is a fundamental epigenetic modification that influences genomic stability, gene regulation, and cellular function by introducing methyl groups to DNA or proteins.

The term "DNA, neoplasm" is not a standard medical term or concept. DNA refers to deoxyribonucleic acid, which is the genetic material present in the cells of living organisms. A neoplasm, on the other hand, is a tumor or growth of abnormal tissue that can be benign (non-cancerous) or malignant (cancerous).

In some contexts, "DNA, neoplasm" may refer to genetic alterations found in cancer cells. These genetic changes can include mutations, amplifications, deletions, or rearrangements of DNA sequences that contribute to the development and progression of cancer. Identifying these genetic abnormalities can help doctors diagnose and treat certain types of cancer more effectively.

However, it's important to note that "DNA, neoplasm" is not a term that would typically be used in medical reports or research papers without further clarification. If you have any specific questions about DNA changes in cancer cells or neoplasms, I would recommend consulting with a healthcare professional or conducting further research on the topic.

Tumor suppressor genes are a type of gene that helps to regulate and prevent cells from growing and dividing too rapidly or in an uncontrolled manner. They play a critical role in preventing the formation of tumors and cancer. When functioning properly, tumor suppressor genes help to repair damaged DNA, control the cell cycle, and trigger programmed cell death (apoptosis) when necessary. However, when these genes are mutated or altered, they can lose their ability to function correctly, leading to uncontrolled cell growth and the development of tumors. Examples of tumor suppressor genes include TP53, BRCA1, and BRCA2.

p16, also known as CDKN2A, is a tumor suppressor gene that encodes the protein p16INK4a. This protein plays a crucial role in regulating the cell cycle by inhibiting the activity of cyclin-dependent kinases (CDKs) 4 and 6, which are essential for the progression from G1 to S phase.

The p16 gene is located on chromosome 9p21 and is often inactivated or deleted in various types of cancer, including lung, breast, and head and neck cancers. Inactivation of the p16 gene leads to uncontrolled cell growth and division, which can contribute to tumor development and progression.

Therefore, the p16 gene is an important tumor suppressor gene that helps prevent cancer by regulating cell growth and division.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

I'm sorry for any confusion, but "Prince Edward Island" is not a medical term or concept. It is a province located in eastern Canada, known for its beautiful landscapes, red sand beaches, and the setting of the beloved novel "Anne of Green Gables." If you have any questions related to medical topics, I'd be happy to help!

I'm sorry for any confusion, but "Mediterranean Islands" is not a term that has a specific medical definition. The Mediterranean Sea is surrounded by many countries and islands, including Cyprus, Sicily, Sardinia, Corsica, Crete, and numerous Greek islands, among others. If you're looking for medical information related to these areas, I would need more specificity. However, if you're interested in general health statistics or demographic data related to these islands, I could try to provide some relevant information.

Microsatellite instability (MSI) is a genetic phenomenon characterized by alterations in the number of repeat units in microsatellites, which are short repetitive DNA sequences distributed throughout the genome. MSI arises due to defects in the DNA mismatch repair system, leading to accumulation of errors during DNA replication and cell division.

This condition is often associated with certain types of cancer, such as colorectal, endometrial, and gastric cancers. The presence of MSI in tumors may indicate a better prognosis and potential response to immunotherapy, particularly those targeting PD-1 or PD-L1 pathways.

MSI is typically determined through molecular testing, which compares the length of microsatellites in normal and tumor DNA samples. A high level of instability, known as MSI-High (MSI-H), is indicative of a dysfunctional mismatch repair system and increased likelihood of cancer development.

Cytosine is one of the four nucleobases in the nucleic acid molecules DNA and RNA, along with adenine, guanine, and thymine (in DNA) or uracil (in RNA). The single-letter abbreviation for cytosine is "C."

Cytosine base pairs specifically with guanine through hydrogen bonding, forming a base pair. In DNA, the double helix consists of two complementary strands of nucleotides held together by these base pairs, such that the sequence of one strand determines the sequence of the other. This property is critical for DNA replication and transcription, processes that are essential for life.

Cytosine residues in DNA can undergo spontaneous deamination to form uracil, which can lead to mutations if not corrected by repair mechanisms. In RNA, cytosine can be methylated at the 5-carbon position to form 5-methylcytosine, a modification that plays a role in regulating gene expression and other cellular processes.

A Transcription Initiation Site (TIS) is a specific location within the DNA sequence where the process of transcription is initiated. In other words, it is the starting point where the RNA polymerase enzyme binds to the DNA template and begins synthesizing an RNA molecule. The TIS is typically located just upstream of the coding region of a gene and is often marked by specific sequences or structures that help regulate transcription, such as promoters and enhancers.

During the initiation of transcription, the RNA polymerase recognizes and binds to the promoter region, which lies adjacent to the TIS. The promoter contains cis-acting elements, including the TATA box and the initiator (Inr) element, that are recognized by transcription factors and other regulatory proteins. These proteins help position the RNA polymerase at the correct location on the DNA template and facilitate the initiation of transcription.

Once the RNA polymerase is properly positioned, it begins to unwind the double-stranded DNA at the TIS, creating a transcription bubble where the single-stranded DNA template can be accessed. The RNA polymerase then adds nucleotides one by one to the growing RNA chain, synthesizing an mRNA molecule that will ultimately be translated into a protein or, in some cases, serve as a non-coding RNA with regulatory functions.

In summary, the Transcription Initiation Site (TIS) is a crucial component of gene expression, marking the location where transcription begins and playing a key role in regulating this essential biological process.

Deoxyribonuclease HpaII, also known as HpaII endonuclease or simply HpaII, is an enzyme that cleaves double-stranded DNA at the recognition site 5'-CCGG-3'. It is a type of restriction endonuclease that is isolated from the bacterium Haemophilus parainfluenzae. The 'H' and the 'pa' in HpaII stand for Haemophilus parainfluenzae, and the Roman numeral II indicates that it was the second such enzyme to be discovered from this bacterial species.

The HpaII enzyme cuts the DNA strand between the two Gs in the recognition site, leaving a 5'-overhang of two unpaired cytosines on the 3'-end of each cleaved strand. This specificity makes it useful for various molecular biology techniques, such as genetic fingerprinting, genome mapping, and DNA sequencing.

It is worth noting that HpaII is sensitive to methylation at the internal cytosine residue within its recognition site. If the inner cytosine in the 5'-CCGG-3' sequence is methylated (i.e., 5-methylcytosine), HpaII will not cut the DNA at that site, which can be exploited for epigenetic studies and DNA methylation analysis.

Long Interspersed Nucleotide Elements (LINEs) are a type of mobile genetic element, also known as transposable elements or retrotransposons. They are long stretches of DNA that are interspersed throughout the genome and have the ability to move or copy themselves to new locations within the genome. LINEs are typically several thousand base pairs in length and make up a significant portion of many eukaryotic genomes, including the human genome.

LINEs contain two open reading frames (ORFs) that encode proteins necessary for their own replication and insertion into new locations within the genome. The first ORF encodes a reverse transcriptase enzyme, which is used to make a DNA copy of the LINE RNA after it has been transcribed from the DNA template. The second ORF encodes an endonuclease enzyme, which creates a break in the target DNA molecule at the site of insertion. The LINE RNA and its complementary DNA (cDNA) copy are then integrated into the target DNA at this break, resulting in the insertion of a new copy of the LINE element.

LINEs can have both positive and negative effects on the genomes they inhabit. On one hand, they can contribute to genomic diversity and evolution by introducing new genetic material and creating genetic variation. On the other hand, they can also cause mutations and genomic instability when they insert into or near genes, potentially disrupting their function or leading to aberrant gene expression. As a result, LINEs are carefully regulated and controlled in the cell to prevent excessive genomic disruption.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

A cell line that is derived from tumor cells and has been adapted to grow in culture. These cell lines are often used in research to study the characteristics of cancer cells, including their growth patterns, genetic changes, and responses to various treatments. They can be established from many different types of tumors, such as carcinomas, sarcomas, and leukemias. Once established, these cell lines can be grown and maintained indefinitely in the laboratory, allowing researchers to conduct experiments and studies that would not be feasible using primary tumor cells. It is important to note that tumor cell lines may not always accurately represent the behavior of the original tumor, as they can undergo genetic changes during their time in culture.

Genomic imprinting is a epigenetic process that leads to the differential expression of genes depending on their parental origin. It involves the methylation of certain CpG sites in the DNA, which results in the silencing of one of the two copies of a gene, either the maternal or paternal allele. This means that only one copy of the gene is active and expressed, while the other is silent.

This phenomenon is critical for normal development and growth, and it plays a role in the regulation of genes involved in growth and behavior. Genomic imprinting is also associated with certain genetic disorders, such as Prader-Willi and Angelman syndromes, which occur when there are errors in the imprinting process that lead to the absence or abnormal expression of certain genes.

It's important to note that genomic imprinting is a complex and highly regulated process that is not yet fully understood. Research in this area continues to provide new insights into the mechanisms underlying gene regulation and their impact on human health and disease.

Cyclin-Dependent Kinase Inhibitor p16, also known as CDKN2A or INK4a, is a protein that regulates the cell cycle. It functions as an inhibitor of cyclin-dependent kinases (CDKs) 4 and 6, which are enzymes that play a crucial role in regulating the progression of the cell cycle.

The p16 protein is produced in response to various signals, including DNA damage and oncogene activation, and its main function is to prevent the phosphorylation and activation of the retinoblastoma protein (pRb) by CDK4/6. When pRb is not phosphorylated, it binds to and inhibits the E2F transcription factor, which results in the suppression of genes required for cell cycle progression.

Therefore, p16 acts as a tumor suppressor protein by preventing the uncontrolled proliferation of cells that can lead to cancer. Mutations or deletions in the CDKN2A gene, which encodes the p16 protein, have been found in many types of human cancers, including lung, breast, and head and neck cancers.

Epigenomics is the study of the epigenome, which refers to all of the chemical modifications and protein interactions that occur on top of a person's genetic material (DNA). These modifications do not change the underlying DNA sequence but can affect gene expression, or how much a particular gene is turned on or off.

Examples of epigenetic modifications include DNA methylation, histone modification, and non-coding RNA molecules. These modifications can be influenced by various factors such as age, environment, lifestyle, and disease state. Epigenomic changes have been implicated in the development and progression of many diseases, including cancer, and are an active area of research in molecular biology and genomics.

I'm sorry for any confusion, but the term "United States Virgin Islands" is a geographical location and not a medical concept or condition. It refers to a group of islands in the Caribbean that are an insular area of the United States, consisting of the main islands of Saint Thomas, Saint John, and Saint Croix, as well as several smaller islands. They are known for their beautiful beaches, tropical climate, and rich history.

5-Methylcytosine (5mC) is a chemical modification of the nucleotide base cytosine in DNA, where a methyl group (-CH3) is added to the 5th carbon atom of the cytosine ring. This modification is catalyzed by DNA methyltransferase enzymes and plays an essential role in epigenetic regulation of gene expression, genomic imprinting, X-chromosome inactivation, and suppression of transposable elements in eukaryotic cells. Abnormal DNA methylation patterns have been associated with various diseases, including cancer.

I'm sorry for any confusion, but "Melanesia" is not a medical term. It is a geographical region in the southwestern Pacific Ocean, consisting of an island group including New Guinea, the Bismarck Archipelago, the Solomon Islands, Vanuatu, New Caledonia, and the Fiji islands. The term "Melanesia" comes from the Greek words "melas," meaning black, and "nesos," meaning island, referring to the dark skin of the inhabitants. It's primarily used in anthropological, geographical, and cultural contexts.

Colorectal neoplasms refer to abnormal growths in the colon or rectum, which can be benign or malignant. These growths can arise from the inner lining (mucosa) of the colon or rectum and can take various forms such as polyps, adenomas, or carcinomas.

Benign neoplasms, such as hyperplastic polyps and inflammatory polyps, are not cancerous but may need to be removed to prevent the development of malignant tumors. Adenomas, on the other hand, are precancerous lesions that can develop into colorectal cancer if left untreated.

Colorectal cancer is a malignant neoplasm that arises from the uncontrolled growth and division of cells in the colon or rectum. It is one of the most common types of cancer worldwide and can spread to other parts of the body through the bloodstream or lymphatic system.

Regular screening for colorectal neoplasms is recommended for individuals over the age of 50, as early detection and removal of precancerous lesions can significantly reduce the risk of developing colorectal cancer.

Oligonucleotide Array Sequence Analysis is a type of microarray analysis that allows for the simultaneous measurement of the expression levels of thousands of genes in a single sample. In this technique, oligonucleotides (short DNA sequences) are attached to a solid support, such as a glass slide, in a specific pattern. These oligonucleotides are designed to be complementary to specific target mRNA sequences from the sample being analyzed.

During the analysis, labeled RNA or cDNA from the sample is hybridized to the oligonucleotide array. The level of hybridization is then measured and used to determine the relative abundance of each target sequence in the sample. This information can be used to identify differences in gene expression between samples, which can help researchers understand the underlying biological processes involved in various diseases or developmental stages.

It's important to note that this technique requires specialized equipment and bioinformatics tools for data analysis, as well as careful experimental design and validation to ensure accurate and reproducible results.

Cyclin-Dependent Kinase Inhibitor p15, also known as CDKN2B or INK4b, is a protein that regulates the cell cycle. It inhibits the activity of cyclin-dependent kinases (CDKs), specifically the CDK4 and CDK6 complexes with cyclin D, which play a crucial role in regulating the progression of the cell cycle from the G1 phase to the S phase.

The p15 protein is encoded by the CDKN2B gene, which is located on human chromosome 9p21. The expression of the CDKN2B gene is induced by various signals, including DNA damage and differentiation signals, leading to the inhibition of CDK4/6-cyclin D complexes and cell cycle arrest in the G1 phase. This provides an essential mechanism for preventing cells with damaged DNA from entering the S phase and undergoing DNA replication, thereby ensuring genomic stability and preventing tumorigenesis.

Mutations or deletions of the CDKN2B gene have been implicated in various human cancers, including gliomas, melanomas, and leukemias, suggesting that the loss of p15 function may contribute to tumor development and progression.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

'Tumor cells, cultured' refers to the process of removing cancerous cells from a tumor and growing them in controlled laboratory conditions. This is typically done by isolating the tumor cells from a patient's tissue sample, then placing them in a nutrient-rich environment that promotes their growth and multiplication.

The resulting cultured tumor cells can be used for various research purposes, including the study of cancer biology, drug development, and toxicity testing. They provide a valuable tool for researchers to better understand the behavior and characteristics of cancer cells outside of the human body, which can lead to the development of more effective cancer treatments.

It is important to note that cultured tumor cells may not always behave exactly the same way as they do in the human body, so findings from cell culture studies must be validated through further research, such as animal models or clinical trials.

Genetic transcription is the process by which the information in a strand of DNA is used to create a complementary RNA molecule. This process is the first step in gene expression, where the genetic code in DNA is converted into a form that can be used to produce proteins or functional RNAs.

During transcription, an enzyme called RNA polymerase binds to the DNA template strand and reads the sequence of nucleotide bases. As it moves along the template, it adds complementary RNA nucleotides to the growing RNA chain, creating a single-stranded RNA molecule that is complementary to the DNA template strand. Once transcription is complete, the RNA molecule may undergo further processing before it can be translated into protein or perform its functional role in the cell.

Transcription can be either "constitutive" or "regulated." Constitutive transcription occurs at a relatively constant rate and produces essential proteins that are required for basic cellular functions. Regulated transcription, on the other hand, is subject to control by various intracellular and extracellular signals, allowing cells to respond to changing environmental conditions or developmental cues.

I'm sorry for any confusion, but "Micronesia" is not a medical term. It is a geographical term that refers to a group of islands in the Pacific Ocean, which includes countries such as the Federated States of Micronesia, Palau, and the Marshall Islands. If you have any questions about medical terms or concepts, I would be happy to help with those!

Oligodeoxyribonucleotides (ODNs) are relatively short, synthetic single-stranded DNA molecules. They typically contain 15 to 30 nucleotides, but can range from 2 to several hundred nucleotides in length. ODNs are often used as tools in molecular biology research for various applications such as:

1. Nucleic acid detection and quantification (e.g., real-time PCR)
2. Gene regulation (antisense, RNA interference)
3. Gene editing (CRISPR-Cas systems)
4. Vaccine development
5. Diagnostic purposes

Due to their specificity and affinity towards complementary DNA or RNA sequences, ODNs can be designed to target a particular gene or sequence of interest. This makes them valuable tools in understanding gene function, regulation, and interaction with other molecules within the cell.

Glutathione S-transferase Pi (GSTP1) is a member of the glutathione S-transferase (GST) family, which are enzymes involved in the detoxification of xenobiotics and endogenous compounds. GSTs catalyze the conjugation of reduced glutathione to these electrophilic compounds, facilitating their excretion from the body.

GSTP1 is primarily found in the cytosol of cells and has a high affinity for a variety of substrates, including polycyclic aromatic hydrocarbons, heterocyclic amines, and certain chemotherapeutic drugs. It plays an essential role in protecting cells against oxidative stress and chemical-induced damage.

Polymorphisms in the GSTP1 gene have been associated with altered enzyme activity and susceptibility to various diseases, including cancer, neurological disorders, and respiratory diseases. The most common polymorphism in GSTP1 is a single nucleotide substitution (Ile105Val), which has been shown to reduce the enzyme's catalytic activity and increase the risk of developing certain types of cancer.

A gene is the basic unit of heredity in living organisms. It is a segment of DNA (deoxyribonucleic acid) that contains the instructions for the development and function of an organism. Genes are passed down from parents to offspring and determine many of an individual's traits, such as eye color and height.

A neoplasm, on the other hand, is a term used to describe an abnormal growth of cells, also known as a tumor. Neoplasms can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are generally not harmful and do not spread to other parts of the body. Malignant neoplasms, however, can invade and destroy nearby tissues and organs, and may also metastasize (spread) to other parts of the body.

In some cases, genetic mutations can lead to the development of neoplasms. These genetic changes can be inherited from parents or can occur spontaneously during a person's lifetime. Some genes are known to play a role in the development of certain types of cancer. For example, mutations in the BRCA1 and BRCA2 genes can increase a person's risk of developing breast and ovarian cancer.

It is important to note that not all neoplasms are caused by genetic mutations. Other factors, such as exposure to certain chemicals or viruses, can also contribute to the development of neoplasms.

Chromatin is the complex of DNA, RNA, and proteins that make up the chromosomes in the nucleus of a cell. It is responsible for packaging the long DNA molecules into a more compact form that fits within the nucleus. Chromatin is made up of repeating units called nucleosomes, which consist of a histone protein octamer wrapped tightly by DNA. The structure of chromatin can be altered through chemical modifications to the histone proteins and DNA, which can influence gene expression and other cellular processes.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Base composition in genetics refers to the relative proportion of the four nucleotide bases (adenine, thymine, guanine, and cytosine) in a DNA or RNA molecule. In DNA, adenine pairs with thymine, and guanine pairs with cytosine, so the base composition is often expressed in terms of the ratio of adenine + thymine (A-T) to guanine + cytosine (G-C). This ratio can vary between species and even between different regions of the same genome. The base composition can provide important clues about the function, evolution, and structure of genetic material.

Histones are highly alkaline proteins found in the chromatin of eukaryotic cells. They are rich in basic amino acid residues, such as arginine and lysine, which give them their positive charge. Histones play a crucial role in packaging DNA into a more compact structure within the nucleus by forming a complex with it called a nucleosome. Each nucleosome contains about 146 base pairs of DNA wrapped around an octamer of eight histone proteins (two each of H2A, H2B, H3, and H4). The N-terminal tails of these histones are subject to various post-translational modifications, such as methylation, acetylation, and phosphorylation, which can influence chromatin structure and gene expression. Histone variants also exist, which can contribute to the regulation of specific genes and other nuclear processes.

I'm sorry for any confusion, but "geography" is not a term that has a medical definition. Geography is a field of study that deals with the location and distribution of physical and cultural features on Earth's surface, as well as how humans interact with and affect those features. It is not a concept that is typically used in a medical context. If you have any questions related to medicine or healthcare, I would be happy to try to help answer them for you!

Death-associated protein kinases (DAPKs) are a group of serine/threonine protein kinases that have been implicated in the regulation of programmed cell death, also known as apoptosis. There are several isoforms of DAPKs, including DAPK1, DAPK2, and DAPK3, each with distinct functions and regulatory mechanisms.

DAPK1 was the first to be identified and is perhaps the best studied. It plays a critical role in various forms of programmed cell death, including apoptosis, autophagy, and necroptosis. DAPK1 can be activated by various stimuli, such as calcium influx, oxidative stress, and DNA damage, and its activation leads to the phosphorylation of several downstream targets that contribute to the execution of cell death.

DAPK2 and DAPK3 have also been shown to regulate programmed cell death, although their functions are less well understood than those of DAPK1. DAPK2 has been implicated in the regulation of autophagy, while DAPK3 has been suggested to play a role in the regulation of both apoptosis and necroptosis.

Overall, DAPKs are important regulators of programmed cell death and have been implicated in various physiological and pathological processes, including development, neurodegeneration, ischemia-reperfusion injury, and cancer.

PROTEIN B-RAF, also known as serine/threonine-protein kinase B-Raf, is a crucial enzyme that helps regulate the cell growth signaling pathway in the body. It is a type of proto-oncogene protein, which means it has the potential to contribute to cancer development if mutated or overexpressed.

The B-RAF protein is part of the RAS/MAPK signaling pathway, which plays a critical role in controlling cell growth, division, and survival. When activated by upstream signals, B-RAF activates another kinase called MEK, which then activates ERK, leading to the regulation of various genes involved in cell growth and differentiation.

Mutations in the B-RAF gene can lead to constitutive activation of the protein, causing uncontrolled cell growth and division, which can contribute to the development of various types of cancer, including melanoma, colon cancer, and thyroid cancer. The most common mutation in the B-RAF gene is V600E, which affects around 8% of all human cancers.

Therefore, B-RAF inhibitors have been developed as targeted therapies for cancer treatment, particularly for melanoma patients with B-RAF V600E mutations. These drugs work by blocking the activity of the mutated B-RAF protein, thereby preventing uncontrolled cell growth and division.

The Channel Islands are not a medical term, but a geographical term referring to a group of islands in the English Channel, off the coast of France. The largest of these islands is Jersey, followed by Guernsey, Alderney, Sark, and Herm. These islands are British Crown Dependencies, meaning they are self-governing possessions of the British Crown, but not part of the United Kingdom or its constituent countries.

Therefore, there is no medical definition associated with the Channel Islands. However, it's worth noting that each island has its own healthcare system and medical facilities, which may have different practices and guidelines compared to those in the UK or other countries.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.

Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.

In the context of medicine, particularly in relation to surgery, "reunion" refers to the process or state of separate parts coming back together or healing into a solid mass. This term is often used in the context of wound healing, where it describes the closure and joining of the edges of a wound. It can also be used in orthopedic surgery to describe the reattachment or fusion of broken bones after a fracture. However, it's not a common medical term and might not be found in general medical dictionaries or resources.

The Falkland Islands, also known as Islas Malvinas, are a remote archipelago located in the South Atlantic Ocean, about 300 miles (483 kilometers) east of the southern tip of South America. They are a British Overseas Territory, but Argentina also claims sovereignty over them and refers to them as the Malvinas Islands.

The Falkland Islands consist of two main islands, East Falkland and West Falkland, along with around 700 smaller islands and islets. The total land area of the archipelago is approximately 4,700 square miles (12,173 square kilometers).

The islands have a cool temperate climate, with average temperatures ranging from about 35°F (1.6°C) in the winter to around 55°F (12.8°C) in the summer. The terrain is mostly rolling moorland and low hills, with some coastal cliffs and beaches.

The human history of the Falkland Islands dates back to at least the 16th century, when they were first sighted by European explorers. However, it was not until the late 18th century that the islands were permanently settled by British and French colonists. Argentina has claimed sovereignty over the islands since 1820, but Britain has maintained control of them since 1833.

The Falkland Islands are home to a small population of around 3,000 people, mostly of British descent. The economy is based primarily on fishing, agriculture, and tourism. In 1982, Argentina invaded the islands, leading to a brief but bloody conflict known as the Falklands War. Britain successfully defended the islands and has maintained control over them ever since.

I'm sorry for any confusion, but "Polynesia" is not a medical term. It is a geographical region in the Pacific Ocean, consisting of numerous island countries and territories. If you have any questions related to medical terminology or health, I would be happy to try and help answer those for you.

Alu elements are short, repetitive sequences of DNA that are found in the genomes of primates, including humans. These elements are named after the restriction enzyme Alu, which was used to first identify them. Alu elements are derived from a 7SL RNA molecule and are typically around 300 base pairs in length. They are characterized by their ability to move or "jump" within the genome through a process called transposition.

Alu elements make up about 11% of the human genome and are thought to have played a role in shaping its evolution. They can affect gene expression, regulation, and function, and have been associated with various genetic disorders and diseases. Additionally, Alu elements can also serve as useful markers for studying genetic diversity and evolutionary relationships among primates.

DNA primers are short single-stranded DNA molecules that serve as a starting point for DNA synthesis. They are typically used in laboratory techniques such as the polymerase chain reaction (PCR) and DNA sequencing. The primer binds to a complementary sequence on the DNA template through base pairing, providing a free 3'-hydroxyl group for the DNA polymerase enzyme to add nucleotides and synthesize a new strand of DNA. This allows for specific and targeted amplification or analysis of a particular region of interest within a larger DNA molecule.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Gene expression profiling is a laboratory technique used to measure the activity (expression) of thousands of genes at once. This technique allows researchers and clinicians to identify which genes are turned on or off in a particular cell, tissue, or organism under specific conditions, such as during health, disease, development, or in response to various treatments.

The process typically involves isolating RNA from the cells or tissues of interest, converting it into complementary DNA (cDNA), and then using microarray or high-throughput sequencing technologies to determine which genes are expressed and at what levels. The resulting data can be used to identify patterns of gene expression that are associated with specific biological states or processes, providing valuable insights into the underlying molecular mechanisms of diseases and potential targets for therapeutic intervention.

In recent years, gene expression profiling has become an essential tool in various fields, including cancer research, drug discovery, and personalized medicine, where it is used to identify biomarkers of disease, predict patient outcomes, and guide treatment decisions.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

A neoplasm is a tumor or growth that is formed by an abnormal and excessive proliferation of cells, which can be benign or malignant. Neoplasm proteins are therefore any proteins that are expressed or produced in these neoplastic cells. These proteins can play various roles in the development, progression, and maintenance of neoplasms.

Some neoplasm proteins may contribute to the uncontrolled cell growth and division seen in cancer, such as oncogenic proteins that promote cell cycle progression or inhibit apoptosis (programmed cell death). Others may help the neoplastic cells evade the immune system, allowing them to proliferate undetected. Still others may be involved in angiogenesis, the formation of new blood vessels that supply the tumor with nutrients and oxygen.

Neoplasm proteins can also serve as biomarkers for cancer diagnosis, prognosis, or treatment response. For example, the presence or level of certain neoplasm proteins in biological samples such as blood or tissue may indicate the presence of a specific type of cancer, help predict the likelihood of cancer recurrence, or suggest whether a particular therapy will be effective.

Overall, understanding the roles and behaviors of neoplasm proteins can provide valuable insights into the biology of cancer and inform the development of new diagnostic and therapeutic strategies.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

Core Binding Factor Alpha 3 Subunit (also known as CBFA3 or AML1) is a protein that forms part of a complex responsible for the regulation of gene transcription, particularly those involved in hematopoiesis (the formation of blood cells). It is a member of the runt-domain family of transcription factors and plays a critical role in normal blood cell development.

Mutations in the CBFA3 gene have been associated with certain types of leukemia, such as acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). These mutations can lead to abnormal blood cell development and cancer.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

Phylogeny is the evolutionary history and relationship among biological entities, such as species or genes, based on their shared characteristics. In other words, it refers to the branching pattern of evolution that shows how various organisms have descended from a common ancestor over time. Phylogenetic analysis involves constructing a tree-like diagram called a phylogenetic tree, which depicts the inferred evolutionary relationships among organisms or genes based on molecular sequence data or other types of characters. This information is crucial for understanding the diversity and distribution of life on Earth, as well as for studying the emergence and spread of diseases.

Human chromosome pair 21 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical to each other. Chromosomes are made up of DNA, which contains genetic information that determines many of an individual's traits and characteristics.

Chromosome pair 21 is one of the 23 pairs of human autosomal chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome pair 21 is the smallest of the human chromosomes, and it contains approximately 48 million base pairs of DNA. It contains around 200-300 genes that provide instructions for making proteins and regulating various cellular processes.

Down syndrome, a genetic disorder characterized by intellectual disability, developmental delays, distinct facial features, and sometimes heart defects, is caused by an extra copy of chromosome pair 21 or a part of it. This additional genetic material can lead to abnormalities in brain development and function, resulting in the characteristic symptoms of Down syndrome.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

A genome is the complete set of genetic material (DNA, or in some viruses, RNA) present in a single cell of an organism. It includes all of the genes, both coding and noncoding, as well as other regulatory elements that together determine the unique characteristics of that organism. The human genome, for example, contains approximately 3 billion base pairs and about 20,000-25,000 protein-coding genes.

The term "genome" was first coined by Hans Winkler in 1920, derived from the word "gene" and the suffix "-ome," which refers to a complete set of something. The study of genomes is known as genomics.

Understanding the genome can provide valuable insights into the genetic basis of diseases, evolution, and other biological processes. With advancements in sequencing technologies, it has become possible to determine the entire genomic sequence of many organisms, including humans, and use this information for various applications such as personalized medicine, gene therapy, and biotechnology.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Restriction mapping is a technique used in molecular biology to identify the location and arrangement of specific restriction endonuclease recognition sites within a DNA molecule. Restriction endonucleases are enzymes that cut double-stranded DNA at specific sequences, producing fragments of various lengths. By digesting the DNA with different combinations of these enzymes and analyzing the resulting fragment sizes through techniques such as agarose gel electrophoresis, researchers can generate a restriction map - a visual representation of the locations and distances between recognition sites on the DNA molecule. This information is crucial for various applications, including cloning, genome analysis, and genetic engineering.

Toll-like receptor 9 (TLR9) is a type of protein belonging to the family of Toll-like receptors, which play a crucial role in the innate immune system. TLR9 is primarily expressed on the endosomal membranes of various immune cells, including dendritic cells, B cells, and macrophages. It recognizes specific molecular patterns, particularly unmethylated CpG DNA motifs, which are commonly found in bacterial and viral genomes but are underrepresented in vertebrate DNA.

Upon recognition and binding to its ligands, TLR9 initiates a signaling cascade that activates various transcription factors, such as NF-κB and IRF7, leading to the production of proinflammatory cytokines, type I interferons, and the activation of adaptive immune responses. This process is essential for the clearance of pathogens and the development of immunity against them. Dysregulation of TLR9 signaling has been implicated in several autoimmune diseases and chronic inflammatory conditions.

DNA cytosine methylases are a type of enzyme that catalyze the transfer of a methyl group (-CH3) to the carbon-5 position of the cytosine ring in DNA, forming 5-methylcytosine. This process is known as DNA methylation and plays an important role in regulating gene expression, genomic imprinting, X-chromosome inactivation, and suppression of transposable elements in eukaryotic organisms.

In mammals, the most well-studied DNA cytosine methylases are members of the DNMT (DNA methyltransferase) family, including DNMT1, DNMT3A, and DNMT3B. DNMT1 is primarily responsible for maintaining existing methylation patterns during DNA replication, while DNMT3A and DNMT3B are involved in establishing new methylation patterns during development and differentiation.

Abnormal DNA methylation patterns have been implicated in various diseases, including cancer, where global hypomethylation and promoter-specific hypermethylation can contribute to genomic instability, chromosomal aberrations, and silencing of tumor suppressor genes.

Introns are non-coding sequences of DNA that are present within the genes of eukaryotic organisms, including plants, animals, and humans. Introns are removed during the process of RNA splicing, in which the initial RNA transcript is cut and reconnected to form a mature, functional RNA molecule.

After the intron sequences are removed, the remaining coding sequences, known as exons, are joined together to create a continuous stretch of genetic information that can be translated into a protein or used to produce non-coding RNAs with specific functions. The removal of introns allows for greater flexibility in gene expression and regulation, enabling the generation of multiple proteins from a single gene through alternative splicing.

In summary, introns are non-coding DNA sequences within genes that are removed during RNA processing to create functional RNA molecules or proteins.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Cadherins are a type of cell adhesion molecule that play a crucial role in the development and maintenance of intercellular junctions. They are transmembrane proteins that mediate calcium-dependent homophilic binding between adjacent cells, meaning that they bind to identical cadherin molecules on neighboring cells.

There are several types of cadherins, including classical cadherins, desmosomal cadherins, and protocadherins, each with distinct functions and localization in tissues. Classical cadherins, also known as type I cadherins, are the most well-studied and are essential for the formation of adherens junctions, which help to maintain cell-to-cell contact and tissue architecture.

Desmosomal cadherins, on the other hand, are critical for the formation and maintenance of desmosomes, which are specialized intercellular junctions that provide mechanical strength and stability to tissues. Protocadherins are a diverse family of cadherin-related proteins that have been implicated in various developmental processes, including neuronal connectivity and tissue patterning.

Mutations in cadherin genes have been associated with several human diseases, including cancer, neurological disorders, and heart defects. Therefore, understanding the structure, function, and regulation of cadherins is essential for elucidating their roles in health and disease.

Stomach neoplasms refer to abnormal growths in the stomach that can be benign or malignant. They include a wide range of conditions such as:

1. Gastric adenomas: These are benign tumors that develop from glandular cells in the stomach lining.
2. Gastrointestinal stromal tumors (GISTs): These are rare tumors that can be found in the stomach and other parts of the digestive tract. They originate from the stem cells in the wall of the digestive tract.
3. Leiomyomas: These are benign tumors that develop from smooth muscle cells in the stomach wall.
4. Lipomas: These are benign tumors that develop from fat cells in the stomach wall.
5. Neuroendocrine tumors (NETs): These are tumors that develop from the neuroendocrine cells in the stomach lining. They can be benign or malignant.
6. Gastric carcinomas: These are malignant tumors that develop from the glandular cells in the stomach lining. They are the most common type of stomach neoplasm and include adenocarcinomas, signet ring cell carcinomas, and others.
7. Lymphomas: These are malignant tumors that develop from the immune cells in the stomach wall.

Stomach neoplasms can cause various symptoms such as abdominal pain, nausea, vomiting, weight loss, and difficulty swallowing. The diagnosis of stomach neoplasms usually involves a combination of imaging tests, endoscopy, and biopsy. Treatment options depend on the type and stage of the neoplasm and may include surgery, chemotherapy, radiation therapy, or targeted therapy.

Chromatin Immunoprecipitation (ChIP) is a molecular biology technique used to analyze the interaction between proteins and DNA in the cell. It is a powerful tool for studying protein-DNA binding, such as transcription factor binding to specific DNA sequences, histone modification, and chromatin structure.

In ChIP assays, cells are first crosslinked with formaldehyde to preserve protein-DNA interactions. The chromatin is then fragmented into small pieces using sonication or other methods. Specific antibodies against the protein of interest are added to precipitate the protein-DNA complexes. After reversing the crosslinking, the DNA associated with the protein is purified and analyzed using PCR, sequencing, or microarray technologies.

ChIP assays can provide valuable information about the regulation of gene expression, epigenetic modifications, and chromatin structure in various biological processes and diseases, including cancer, development, and differentiation.

Acetylation is a chemical process that involves the addition of an acetyl group (-COCH3) to a molecule. In the context of medical biochemistry, acetylation often refers to the post-translational modification of proteins, where an acetyl group is added to the amino group of a lysine residue in a protein by an enzyme called acetyltransferase. This modification can alter the function or stability of the protein and plays a crucial role in regulating various cellular processes such as gene expression, DNA repair, and cell signaling. Acetylation can also occur on other types of molecules, including lipids and carbohydrates, and has important implications for drug metabolism and toxicity.

Colonic neoplasms refer to abnormal growths in the large intestine, also known as the colon. These growths can be benign (non-cancerous) or malignant (cancerous). The two most common types of colonic neoplasms are adenomas and carcinomas.

Adenomas are benign tumors that can develop into cancer over time if left untreated. They are often found during routine colonoscopies and can be removed during the procedure.

Carcinomas, on the other hand, are malignant tumors that invade surrounding tissues and can spread to other parts of the body. Colorectal cancer is the third leading cause of cancer-related deaths in the United States, and colonic neoplasms are a significant risk factor for developing this type of cancer.

Regular screenings for colonic neoplasms are recommended for individuals over the age of 50 or those with a family history of colorectal cancer or other risk factors. Early detection and removal of colonic neoplasms can significantly reduce the risk of developing colorectal cancer.

Tumor markers are substances that can be found in the body and their presence can indicate the presence of certain types of cancer or other conditions. Biological tumor markers refer to those substances that are produced by cancer cells or by other cells in response to cancer or certain benign (non-cancerous) conditions. These markers can be found in various bodily fluids such as blood, urine, or tissue samples.

Examples of biological tumor markers include:

1. Proteins: Some tumor markers are proteins that are produced by cancer cells or by other cells in response to the presence of cancer. For example, prostate-specific antigen (PSA) is a protein produced by normal prostate cells and in higher amounts by prostate cancer cells.
2. Genetic material: Tumor markers can also include genetic material such as DNA, RNA, or microRNA that are shed by cancer cells into bodily fluids. For example, circulating tumor DNA (ctDNA) is genetic material from cancer cells that can be found in the bloodstream.
3. Metabolites: Tumor markers can also include metabolic products produced by cancer cells or by other cells in response to cancer. For example, lactate dehydrogenase (LDH) is an enzyme that is released into the bloodstream when cancer cells break down glucose for energy.

It's important to note that tumor markers are not specific to cancer and can be elevated in non-cancerous conditions as well. Therefore, they should not be used alone to diagnose cancer but rather as a tool in conjunction with other diagnostic tests and clinical evaluations.

Nuclear proteins are a category of proteins that are primarily found in the nucleus of a eukaryotic cell. They play crucial roles in various nuclear functions, such as DNA replication, transcription, repair, and RNA processing. This group includes structural proteins like lamins, which form the nuclear lamina, and regulatory proteins, such as histones and transcription factors, that are involved in gene expression. Nuclear localization signals (NLS) often help target these proteins to the nucleus by interacting with importin proteins during active transport across the nuclear membrane.

Southern blotting is a type of membrane-based blotting technique that is used in molecular biology to detect and locate specific DNA sequences within a DNA sample. This technique is named after its inventor, Edward M. Southern.

In Southern blotting, the DNA sample is first digested with one or more restriction enzymes, which cut the DNA at specific recognition sites. The resulting DNA fragments are then separated based on their size by gel electrophoresis. After separation, the DNA fragments are denatured to convert them into single-stranded DNA and transferred onto a nitrocellulose or nylon membrane.

Once the DNA has been transferred to the membrane, it is hybridized with a labeled probe that is complementary to the sequence of interest. The probe can be labeled with radioactive isotopes, fluorescent dyes, or chemiluminescent compounds. After hybridization, the membrane is washed to remove any unbound probe and then exposed to X-ray film (in the case of radioactive probes) or scanned (in the case of non-radioactive probes) to detect the location of the labeled probe on the membrane.

The position of the labeled probe on the membrane corresponds to the location of the specific DNA sequence within the original DNA sample. Southern blotting is a powerful tool for identifying and characterizing specific DNA sequences, such as those associated with genetic diseases or gene regulation.

A "5' flanking region" in genetics refers to the DNA sequence that is located upstream (towards the 5' end) of a gene's transcription start site. This region contains various regulatory elements, such as promoters and enhancers, that control the initiation and rate of transcription of the gene. The 5' flanking region is important for the proper regulation of gene expression and can be influenced by genetic variations or mutations, which may lead to changes in gene function and contribute to disease susceptibility.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

Methyl-CpG-Binding Protein 2 (MeCP2) is a protein that binds to methylated DNA at symmetric CpG sites and plays a crucial role in the regulation of gene expression. MeCP2 is involved in various cellular processes, including chromatin organization, transcriptional repression, and neurological development. Mutations in the MECP2 gene have been associated with several neurodevelopmental disorders, most notably Rett syndrome, a severe X-linked genetic disorder that primarily affects girls. The MeCP2 protein is highly expressed in brain cells, particularly in neurons, where it helps to maintain the balance between methylated and unmethylated DNA, thereby ensuring proper gene expression and neural function.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

Adenine Phosphoribosyltransferase (APRT) is an enzyme that plays a crucial role in the metabolism of purines, specifically adenine, in the body. The enzyme catalyzes the conversion of adenine to AMP (adenosine monophosphate) by transferring a phosphoribosyl group from 5-phosphoribosyl-1-pyrophosphate (PRPP) to adenine.

Deficiency in APRT can lead to a rare genetic disorder known as Adenine Phosphoribosyltransferase Deficiency or APRT Deficiency. This condition results in the accumulation of 2,8-dihydroxyadenine (DHA) crystals in the renal tubules, which can cause kidney stones and chronic kidney disease. Proper diagnosis and management, including dietary modifications and medication, are essential to prevent complications associated with APRT Deficiency.

Repressor proteins are a type of regulatory protein in molecular biology that suppress the transcription of specific genes into messenger RNA (mRNA) by binding to DNA. They function as part of gene regulation processes, often working in conjunction with an operator region and a promoter region within the DNA molecule. Repressor proteins can be activated or deactivated by various signals, allowing for precise control over gene expression in response to changing cellular conditions.

There are two main types of repressor proteins:

1. DNA-binding repressors: These directly bind to specific DNA sequences (operator regions) near the target gene and prevent RNA polymerase from transcribing the gene into mRNA.
2. Allosteric repressors: These bind to effector molecules, which then cause a conformational change in the repressor protein, enabling it to bind to DNA and inhibit transcription.

Repressor proteins play crucial roles in various biological processes, such as development, metabolism, and stress response, by controlling gene expression patterns in cells.

Genomics is the scientific study of genes and their functions. It involves the sequencing and analysis of an organism's genome, which is its complete set of DNA, including all of its genes. Genomics also includes the study of how genes interact with each other and with the environment. This field of study can provide important insights into the genetic basis of diseases and can lead to the development of new diagnostic tools and treatments.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Adaptor proteins are a type of protein that play a crucial role in intracellular signaling pathways by serving as a link between different components of the signaling complex. Specifically, "signal transducing adaptor proteins" refer to those adaptor proteins that are involved in signal transduction processes, where they help to transmit signals from the cell surface receptors to various intracellular effectors. These proteins typically contain modular domains that allow them to interact with multiple partners, thereby facilitating the formation of large signaling complexes and enabling the integration of signals from different pathways.

Signal transducing adaptor proteins can be classified into several families based on their structural features, including the Src homology 2 (SH2) domain, the Src homology 3 (SH3) domain, and the phosphotyrosine-binding (PTB) domain. These domains enable the adaptor proteins to recognize and bind to specific motifs on other signaling molecules, such as receptor tyrosine kinases, G protein-coupled receptors, and cytokine receptors.

One well-known example of a signal transducing adaptor protein is the growth factor receptor-bound protein 2 (Grb2), which contains an SH2 domain that binds to phosphotyrosine residues on activated receptor tyrosine kinases. Grb2 also contains an SH3 domain that interacts with proline-rich motifs on other signaling proteins, such as the guanine nucleotide exchange factor SOS. This interaction facilitates the activation of the Ras small GTPase and downstream signaling pathways involved in cell growth, differentiation, and survival.

Overall, signal transducing adaptor proteins play a critical role in regulating various cellular processes by modulating intracellular signaling pathways in response to extracellular stimuli. Dysregulation of these proteins has been implicated in various diseases, including cancer and inflammatory disorders.

It is useful to consider a particular tumor type, called CpG island methylator prototype, or CIMP: higher levels of CpG island ... the CpG island is hypomethylated, and the rest of the genome is methylated. It is evident that the hypomethylation of the CpG ... A CpG island is a cytosine and guanine linked by a phosphate in a repeated sequence. These are genetic hotspots as they are ... CpG island hypermethylation is a phenomenon that is important for the regulation of gene expression in cancer cells, as an ...
CpG dinucleotides frequently occur in CpG islands (see definition of CpG islands, below). There are 28,890 CpG islands in the ... occur a short distance from the CpG islands (at "CpG island shores") rather than in the islands themselves. CpG islands ... CpG islands (or CG islands) are regions with a high frequency of CpG sites. Though objective definitions for CpG islands are ... CpG sites occur with high frequency in genomic regions called CpG islands (or CG islands). Cytosines in CpG dinucleotides can ...
CPG Islands. Methods in Molecular Biology. Vol. 1766. pp. 209-229. doi:10.1007/978-1-4939-7768-0_12. ISBN 978-1-4939-7767-3. ... "DNA methylation directly silences genes with non-CpG island promoters and establishes a nucleosome occupied promoter". Human ... Analysis of duplicates and coverage quality Call for Methylation at CpG and GpC sites: CpG is found in all HCG trinucleotides; ... M.CviPl techniques quickly overtook M-SPA as GpC specificity is preferable to CpG specificity, with GpC dinucleotides having a ...
"CpG Island Info". genome.ucsc.edu. Retrieved 2020-05-03. Gardiner-Garden M, Frommer M (July 1987). "CpG islands in vertebrate ... The CpG island associated with this promoter has 75 CpGs (22% of island), and is 676bp long. The C count plus G count is 471, ... the percentage C or G is 70% within this island, and the ratio of observed to expected CpG is 0.91. As determined by ...
"Predicting aberrant CpG island methylation". Proceedings of the National Academy of Sciences. 100 (21): 12253-12258. doi: ...
... contain a CpG island. CpG islands are generally 200 to 2000 base pairs long, have a C:G base pair content >50%, and have ... and these frequently contain CpG islands as well. An example is the promoter of the DNA repair gene ERCC1, where the CpG island ... there are about 600 to 800 heavily methylated CpG islands in promoters of genes in the tumors while these CpG islands are not ... The presence of multiple methylated CpG sites in CpG islands of promoters causes stable inhibition (silencing) of genes. ...
"CpG islands. They showed that CpG islands are a distinct feature of vertebrate genomes and that CpG islands are associated with ... that the majority of neural and neuroendocrine genes were associated with CpG islands and therefore proposed that CpG islands ... CpG-rich DNA. Cell 40: 91-99. Gardiner-Garden, M. and Frommer, M. (1987). CpG islands in vertebrate genomes. J. Mol. Biol. 196 ... Gardiner-Garden, M. and Frommer, M. (1994). Transcripts and CpG islands associated with the pro-opiomelanocortin gene and other ...
... which in turn tend to cluster in regions called CpG islands. There is a small fraction of CpG islands that can overlap or be in ... February 2000). "Aberrant CpG-island methylation has non-random and tumour-type-specific patterns". Nat. Genet. 24 (2): 132-8. ... Gardiner-Garden M, Frommer M (July 1987). "CpG islands in vertebrate genomes". J. Mol. Biol. 196 (2): 261-82. doi:10.1016/0022- ... October 2002). "An AscI Boundary Library for the Studies of Genetic and Epigenetic Alterations in CpG Islands". Genome Res. 12 ...
Distal promoters also frequently contain CpG islands, such as the promoter of the DNA repair gene ERCC1, where the CpG island- ... The presence of multiple methylated CpG sites in CpG islands of promoters causes stable silencing of genes. Silencing of a gene ... MicroRNA promoters often contain CpG islands. DNA methylation forms 5-methylcytosines at the 5' pyrimidine ring of CpG cytosine ... but this is often followed by methylation of CpG sites in the promoter CpG island to cause the stable silencing of the gene. ...
... contain a CpG island (see CpG islands in promoters). If the initially nonmethylated CpG sites in a CpG island become largely ... the CpG islands that control promoters tend to gain methylation with age. The gain of methylation at CpG islands in promoter ... of CpG cytosines are methylated. However, in vertebrates there are CpG islands, about 300 to 3,000 base pairs long, with ... These CpG islands are predominantly nonmethylated. In humans, about 70% of promoters located near the transcription start site ...
Toyota M, Ahuja N, Ohe-Toyota M, Herman JG, Baylin SB, Issa JP (July 1999). "CpG island methylator phenotype in colorectal ... Thus, mutations in IDH1 and IDH2 generate a "DNA CpG island methylator phenotype or CIMP" that causes promoter hypermethylation ... Nazemalhosseini Mojarad E, Kuppen PJ, Aghdaei HA, Zali MR (2013). "The CpG island methylator phenotype (CIMP) in colorectal ... strand breaks can initiate gene silencing and SIRT1-dependent onset of DNA methylation in an exogenous promoter CpG island". ...
CpG island Law J, Jacobsen SE (2010). "Establishing, maintaining and modifying DNA methylation patterns in plants and animals ... In adult somatic tissues, cytosine residues may be methylated, and this occurs almost exclusively within a symmetric CpG ... Methylated C residues spontaneously deaminate to form T residues; hence CpG dinucleotides steadily mutate to TpG dinucleotides ... which gives rise to the under-representation of CpG dinucleotides in the human genome (they occur at only 21% of the expected ...
Toyota, M.; Ahuja, N.; Ohe-Toyota, M.; Herman, J.G.; Baylin, S.B.; Issa, J.P. (July 1999). "CpG island methylator phenotype in ... Her work initially as a postdoctoral research fellow twenty years ago identified the concept of CpG island methylator phenotype ... or CpG island hypermethylation in colorectal cancer. This concept of CIMP now is known to have implications for prognosis as ...
... has one CpG island within the promoter. SMIM15 has lower levels of H3K4Me1 but higher levels of H3K4Me3 and H3K27Ac ...
In mammalian cells, clusters of CpG at the 5' ends of genes are termed CpG islands. 1% of all mammalian DNA is 5mC. While ... CpG islands overlapping gene promoters are de novo methylated resulting in aberrant inactivation of genes normally associated ... Bird, Adrian P. (May 1986). "CpG-rich islands and the function of DNA methylation". Nature. 321 (6067): 209-213. Bibcode: ... There are reports of age estimators with the methylation state of only one CpG in the gene ELOVL2. Estimation of age allows for ...
October 2013). "The CpG island methylator phenotype: what's in a name?". review. Cancer Research. 73 (19): 5858-68. doi:10.1158 ... Curtin K, Slattery ML, Samowitz WS (April 2011). "CpG island methylation in colorectal cancer: past, present and future". ...
Blackledge NP, Zhou JC, Tolstorukov MY, Farcas AM, Park PJ, Klose RJ (Apr 2010). "CpG islands recruit a histone H3 lysine 36 ... This mechanism acts to create a chromatin environment at CpG islands that highlights these regulatory elements and ... within FBXL11/KDM2A has the capacity to interact with non-methylated DNA and this domain targets FBXL11/KDM2A to CpG island ...
January 2006). "De novo CpG island methylation in human cancer cells". Cancer Research. 66 (2): 682-92. doi:10.1158/0008-5472. ... Work with DNMT3a1 showed it preferentially localized to CpG islands bivalently marked by H3K4me3 (a transcription promoting ... "Isoform-specific localization of DNMT3A regulates DNA methylation fidelity at bivalent CpG islands". EMBO J. 36 (23): 3421-3434 ... DNMT3a methylates CpG sites at a rate much slower than DNMT1, but greater than DNMT3b. The expression of DNMT3a2 differs from ...
Regions in which cytosines prior to guanines are clustered and highly unmethylated are called CpG islands, and often serve as ... PRC2 is recruited by many elements, including CpG islands. PRC1, meanwhile, ubiquitinates H2AK119 using Ring1A/B's E3 ligase ... DNA methylation in humans and most other mammals refers to the methylation of a CpG. Methylation of these cytosines are common ...
Klose, Rob (2010). "CpG islands recruit a histone H3 lysine 36 demethylase". Mol. Cell. 38 (2): 179-90. doi:10.1016/j.molcel. ... In particular, he has focused on understanding how DNA encoded regulatory elements in vertebrates, called CpG islands, help to ... Klose, Rob (2013). "ZF-CxxC domain-containing proteins, CpG islands and the chromatin connection". Biochem Soc Trans. 41 (3): ... Klose, Rob (2005). "DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG". Mol. Cell ...
Blackledge NP, Zhou JC, Tolstorukov MY, Farcas AM, Park PJ, Klose RJ (Apr 2010). "CpG islands recruit a histone H3 lysine 36 ... KDM2A and KDM2B possess CXXC zinc finger domains responsible for binding to unmethylated CpG islands, and it is believed that ...
His research focuses on understanding DNA methylation and CpG islands, and their role in diseases such as Rett syndrome. Bird ... Bird's research has focused on CpG islands and their associated binding-factor MeCP2. He led the team which first identified ... Bird, A. P. (1986). "CpG-rich islands and the function of DNA methylation". Nature. 321 (6067): 209-13. Bibcode:1986Natur.321.. ... CpG islands-originally named "HpaII tiny fragments"-in vertebrate genomes. These are short genomic regions with a high density ...
Curtin, Karen; Slattery, Martha L; Samowitz, Wade S (2011). "CpG Island Methylation in Colorectal Cancer: Past, Present and ... CpG island methylator phenotype (CIMP) and BRAF mutation frequency from the database analyses of over 1,400 colorectal cancer ... "The CpG Island Methylator Phenotype: What's in a Name?". Cancer Research. 73 (19): 5858-68. doi:10.1158/0008-5472.CAN-12-4306. ...
This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be ... Alcalay M, Toniolo D (1988). "CpG islands of the X chromosome are gene associated". Nucleic Acids Res. 16 (20): 9527-43. doi: ...
Jair KW, Bachman KE, Suzuki H, Ting AH, Rhee I, Yen RW, Baylin SB, Schuebel KE (January 2006). "De novo CpG island methylation ... DNA (cytosine-5)-methyltransferase 1 is an enzyme that catalyzes the transfer of methyl groups to specific CpG structures in ...
Cross SH, Charlton JA, Nan X, Bird AP (1994). "Purification of CpG islands using a methylated DNA binding column". Nat. Genet. ...
"Isolation of estrogen-responsive genes with a CpG island library". Mol Cell Biol. 18 (1): 442-9. doi:10.1128/mcb.18.1.442. PMC ...
Cross SH, Charlton JA, Nan X, Bird AP (1994). "Purification of CpG islands using a methylated DNA binding column". Nat. Genet. ...
"Isolation of estrogen-responsive genes with a CpG island library". Mol. Cell. Biol. 18 (1): 442-9. doi:10.1128/mcb.18.1.442. ...
Aïssani B, Bernardi G (October 1991). "CpG islands, genes and isochores in the genomes of vertebrates". Gene. 106 (2): 185-95. ...
It is useful to consider a particular tumor type, called CpG island methylator prototype, or CIMP: higher levels of CpG island ... the CpG island is hypomethylated, and the rest of the genome is methylated. It is evident that the hypomethylation of the CpG ... A CpG island is a cytosine and guanine linked by a phosphate in a repeated sequence. These are genetic hotspots as they are ... CpG island hypermethylation is a phenomenon that is important for the regulation of gene expression in cancer cells, as an ...
... Cancer. 2011 Jul 1;117(13):2898-909. doi: ... Microarray analysis showed hypomethylation in 7 and hypermethylation in 32 CpG islands. Hypomethylation was identified in CpG ... Hypermethylation of CpG islands at active gene promoters leads to transcriptional repression, whereas hypomethylation is ... Methods: The authors analyzed 16 matched normal and tumor tissues for aberrant DNA methylation using the methylated CpG island ...
In this study, we show that low levels of CpG island methylation occur in the normal intestinal mucosa of Apc(Min/+) mice and ... Promoter CpG island hypermethylation of critical genes is thought to play an important role in human colorectal tumorigenesis. ... Promoter CpG island hypermethylation of critical genes is thought to play an important role in human colorectal tumorigenesis. ... In this study, we show that low levels of CpG island methylation occur in the normal intestinal mucosa of Apc(Min/+) mice and ...
... "the CpG island containing genes", of which, 36 genes have their promoter embedded in the CpG island (Tables 2, 3). Hence, the ... Figure 4 Methylation status of the promoter CpG Island correlated the expression state of the GSTpi gene in liver cancer cell ... Forty four genes were found containing one or more CpG islands, but only 36 genes really had the promoter embedded in a CpG ... Table 1 The "drug-resistance" genes containing the promoter CpG island. Genes. Location relative to transcription start site. ...
BGC CpG islands dont match with the original notion of CpG islands (unmethylated regions that are typically found near gene ... The majority of CpG islands are normally unmethylated and undergo slow C-to-T deamination. CpG stability in these elements can ... CpG islands and their methylation patterns are the epigeneticists bread and butter, and its been assumed by many that there ... New data suggests that not all CpG islands were created equal, and much like Donald Trumps hair, cant entirely be explained ...
Why is DNA methylation of Igf2 CpG island shore affected during ageing? ... Why is DNA methylation of Igf2 CpG island shore affected during ageing?. Aging (Albany NY). 2012 Jan 8; 4:448-449 . https://doi ...
CpG Island Methylation in Human Lymphocytes Is Highly Correlated with DNA Sequence, Repeats, and Predicted DNA Structure. ... The majority of CpG islands is normally unmethylated, but a sizeable fraction is prone to become methylated in various cell ... CpG island methylation plays an important role in epigenetic gene control during mammalian development and is frequently ... TITLE = {{CpG} Island Methylation in Human Lymphocytes Is Highly Correlated with {DNA} Sequence, Repeats, and Predicted {DNA} ...
... with CpG island methylator phenotype (CIMP) is recognized as a distinct subgroup of CRC, and CIMP status affects prognosis and ... CpG island methylator phenotype in colorectal cancers: comparison of the new and classic CpG island methylator phenotype marker ... CpG island methylator phenotype (CIMP), which is characterized by the simultaneous methylation of multiple CpG islands, is ... Recurrence-free survival (RFS) of stage II-III colorectal cancer patients according to the CpG island methylation phenotype ( ...
CpG Islands CpG Islands (Islands < 300 Bases are Light Green) hide. dense. squish. pack. full. Unmasked CpG CpG Islands on All ... The CpG count is the number of CG dinucleotides in the island. The Percentage CpG is the ratio of CpG nucleotide bases (twice ... CpG islands are associated with genes, particularly housekeeping genes, in vertebrates. CpG islands are typically common near ... CpG Islands (Islands < 300 Bases are Light Green) tracks (. All Expression and Regulation tracks). Display mode: hide. show. ...
Probes were considered to be in a promoter CpG island if they were located within a CpG island (UCSC database) and , 1,500 bp ... Promoter CpG island hypermethylation-associated silencing of tumor suppressor genes is a hallmark of human cancer [34]. The ... B) DNA methylation profile of the 5′-end CpG island regulatory region for the TUSC3, ATRNL1, POMT1 or SAMD4A genes analyzed by ... Cancer-specific promoter CpG island hypermethylation silences circular and host linear RNA. To identify cancer-specific ...
30,000 CpG islands (CGIs). While CGIs associated with promoters nearly always remain unmethylated, many of the ∼9,000 CGIs ... DNA methylation of intragenic CpG islands depends on their transcriptional activity during differentiation and disease. ... The human genome contains ∼30,000 CpG islands (CGIs). While CGIs associated with promoters nearly always remain unmethylated, ... DNA methylation of intragenic CpG islands depends on their transcriptional activity during differentiation and disease. ...
Bidding the CpG island goodbye. / Greally, John M. In: eLife, Vol. 2013, No. 2, e00593, 26.02.2013.. Research output: ... Bidding the CpG island goodbye. eLife. 2013 Feb 26;2013(2):e00593. doi: 10.7554/eLife.00593 ... Greally, John M. / Bidding the CpG island goodbye. In: eLife. 2013 ; Vol. 2013, No. 2. ... Greally, J. M. (2013). Bidding the CpG island goodbye. eLife, 2013(2), Article e00593. https://doi.org/10.7554/eLife.00593 ...
CpG Islands CpG Islands (Islands < 300 Bases are Light Green) hide. dense. squish. pack. full. Unmasked CpG CpG Islands on All ... The CpG count is the number of CG dinucleotides in the island. The Percentage CpG is the ratio of CpG nucleotide bases (twice ... CpG islands are associated with genes, particularly housekeeping genes, in vertebrates. CpG islands are typically common near ... CpG Islands (Islands < 300 Bases are Light Green) tracks (. All Regulation tracks). Display mode: hide. show. All. ...
"CpG Islands" by people in this website by year, and whether "CpG Islands" was a major or minor topic of these publications. ... "CpG Islands" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... In humans there are about 45,000 CpG islands, mostly found at the 5 ends of genes. They are unmethylated except for those on ... Below are the most recent publications written about "CpG Islands" by people in Profiles. ...
CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli. ... CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli. ...
... and binding is blocked when the CpG DNA is methylated, thus constraining KDM2A to nonmethylated CpG islands. These data expose ... These features, called CpG islands, were identified over 20 years ago, but there remains little mechanistic evidence to suggest ... Here we show that CpG islands directly recruit the H3K36-specific lysine demethylase enzyme KDM2A. Nucleation of KDM2A at these ... creating CpG island chromatin that is uniquely depleted of this modification. KDM2A utilizes a zinc finger CxxC (ZF-CxxC) ...
METHODS FOR TRACING CRYPT STEM CELLS ANCESTRY AND CLONAL ARCHITECTURE USING CPG ISLAND METHYLATION AND MITOCHONDRIAL DNA ... METHODS FOR TRACING CRYPT STEM CELLS ANCESTRY AND CLONAL ARCHITECTURE USING CPG ISLAND METHYLATION AND MITOCHONDRIAL DNA ...
A human putative lymphocyte G0/G1 switch gene containing a CpG-rich island encodes a small basic protein with the potential to ... A human putative lymphocyte G0/G1 switch gene containing a CpG-rich island encodes a small basic protein with the potential to ...
Gene and CpG Island Features of Methylation Sites. Location of the methylation sites in relation to gene and CpG island ... In relation to CpG islands, only a small proportion (,10%) of all identified DMS were associated with well-defined CpG island ... We also found that DMS were mainly located within genes and outside of CpG islands (Supplementary Figure 1). Over 40% of the ... X-axis shows the chromosomal position of investigated CpG sites, and y-axis represents the -log10 (P-value) for each CpG site. ...
CpG islands. Regions of higher-than-normal CpG sequence content that are on average 1,000 base pairs in length. Such regions ... A unifying model for the selective regulation of inducible transcription by CpG islands and nucleosome remodeling. Cell 138, ... Jones, P. A. Functions of DNA methylation: islands, start sites, gene bodies and beyond. Nature Rev. Genet. 13, 484-492 (2012). ...
In contrast, CpG island methylation of RARB M4 (P = 0.051), INK4a/ARF (P = 0.042), HIN-1 (P = 0.044), and PRA (P = 0.032), as ... In contrast, CpG island methylation of RARB M4 (P = 0.051), INK4a/ARF (P = 0.042), HIN-1 (P = 0.044), and PRA (P = 0.032), as ... In contrast, CpG island methylation of RARB M4 (P = 0.051), INK4a/ARF (P = 0.042), HIN-1 (P = 0.044), and PRA (P = 0.032), as ... In contrast, CpG island methylation of RARB M4 (P = 0.051), INK4a/ARF (P = 0.042), HIN-1 (P = 0.044), and PRA (P = 0.032), as ...
Colorectal cancers with widespread CpG island methylation display a number of distinct clinicopathological features, and it has ... The CpG island methylator phenotype is not associated with a personal or family history of cancer ... Colorectal cancers with widespread CpG island methylation display a number of distinct clinicopathological features, and it has ...
Here, we develop CpGIMethPred, the support vector machine-based models to predict the methylation status of the CpG islands in ... The features for prediction include those that have been previously demonstrated effective (CpG island specific attributes, DNA ... tests are performed to identify the features that are significantly correlated with the methylation status of the CpG islands, ... via the principal component analysis and that combines all categories of information is effective for predicting the CpG island ...
The methylation state of C5 of the cytosine in the CpG di-nucleotide that is enriched within or near the promoter region of ... methylation specific PCR method in conjunction with DNA sequencing to assess the methylation state of the promoter CpG islands ... expression of these genes have been attributed to the abnormal methylation profile of the corresponding promoter CpG islands in ... CpG methylation) mechanisms may act in concert to inactivate the p16INK4a and RASSF1a in HCC. Finally, we found a significant ...
GATA5 CpG island hypermethylation is an independent predictor for poor clinical outcome in renal cell carcinoma. In: Oncology ... GATA5 CpG island hypermethylation is an independent predictor for poor clinical outcome in renal cell carcinoma. / Peters, Inga ... GATA5 CpG island hypermethylation is an independent predictor for poor clinical outcome in renal cell carcinoma. Oncology ... Transcriptional inactivation and CpG island (CGI) methylation of GATA transcription factor family members GATA3 and GATA5 have ...
We found that CFP1 is not solely recruited to CpG islands as it was originally defined, but also other regions including non- ... This is particularly important at regulatory regions, such as CpG islands (CGIs), which are known to recruit Trithorax (TrxG) ... Finally, we found enrichment of CpG-containing DNA motifs in CFP1 peaks at CGI promoters. ... CpG binding protein (CFP1) occupies open chromatin regions of active genes, including enhancers and non-CpG islands. *Louie N. ...
T1 - CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5′ end of a gene encoding a ... CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5′ end of a gene encoding a ... CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5′ end of a gene encoding a ... CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5′ end of a gene encoding a ...
... this cross-sectional study aimed to investigate the DNA methylation pattern in seven CpG islands (CpG1-7 including +846, +918 ... the methylation percentage was also calculated at each CpG site. Besides, a literature search was conducted without restricting ... Gene silence via methylation of the CpG islands is cancers most common epigenetic modification. Given the highly significant ... appraised two CpG islands; the first had been described by Venkataraman et al. [14], which was referred to as CpG-island1, and ...
Supplementary figure 1 from WRN Promoter CpG Island Hypermethylation Does Not Predict More Favorable Outcomes for Patients with ... Purpose: WRN promoter CpG island hypermethylation in colorectal cancer has been reported to increase sensitivity to irinotecan- ... Supplementary figure 1 from WRN Promoter CpG Island Hypermethylation Does Not Predict More Favorable Outcomes for Patients with ...
SAMD1 has an atypical winged-helix domain that directly recognizes unmethylated CpG-containing DNA via simultaneous ... CpG islands (CGIs) are key regulatory DNA elements at most promoters, but how they influence the chromatin status and ... CpG islands (CGIs) are key regulatory DNA elements at most promoters, but how they influence the chromatin status and ... The SAM domain-containing protein 1 (SAMD1) acts as a repressive chromatin regulator at unmethylated CpG islands. ...
  • The discovery of the methylation-associated inactivation of the Von Hippel-Lindau (VHL) gene revived the idea of the hypermethylation of the CpG island promoter being a mechanism to inactivate genes in cancer. (wikipedia.org)
  • The introduction of methylation-specific PCR and sodium bisulfite modification added tools to the belt of cancer epigenetics research, and the list of candidate genes with aberrant methylation of their CpG islands has been growing since. (wikipedia.org)
  • The aim of this study was to identify genes in adenoid cystic carcinoma (ACC) of salivary gland strongly deregulated by epigenetic CpG island methylation, to validate selected genes by conventional techniques, and to correlate the findings with clinicopathologic factors. (nih.gov)
  • Promoter CpG island hypermethylation of critical genes is thought to play an important role in human colorectal tumorigenesis. (nih.gov)
  • Methylation profile of the promoter CpG islands of 14 "drug-resistance" genes in hepatocellular carcinoma. (wjgnet.com)
  • To establish the DNA methylation patterns of the promoter CpG islands of 14 "drug-resistance" genes in hepatocellular carcinoma (HCC). (wjgnet.com)
  • In this phenotype, widespread methylation of CpG islands results in the epigenetic inactivation of tumor suppressor genes by promoter methylation. (biomedcentral.com)
  • CpG islands are associated with genes, particularly housekeeping genes, in vertebrates. (ucsc.edu)
  • In particular, we have identified that promoter CpG island hypermethylation of the genes TUSC3 (tumor suppressor candidate 3), POMT1 (protein O-mannosyltransferase 1), ATRNL1 (attractin-like 1) and SAMD4A (sterile alpha motif domain containing 4A) is linked to the transcriptional downregulation of both linear mRNA and the hosted circRNA. (oncotarget.com)
  • In humans there are about 45,000 CpG islands, mostly found at the 5' ends of genes. (rush.edu)
  • In an attempt to isolate candidate genes for autosomal dominant polycystic kidney disease, a number of CpG-rich islands have been identified from a region defined genetically as the site of disease mutations. (johnshopkins.edu)
  • In normal tissues, the vast majority of CpG islands are completely unmethylated with some exceptions. (wikipedia.org)
  • The majority of CpG islands are normally unmethylated and undergo slow C-to-T deamination. (epigenie.com)
  • The majority of CpG islands is normally unmethylated, but a sizeable fraction is prone to become methylated in various cell types and pathological situations. (mpg.de)
  • It is useful to consider a particular tumor type, called CpG island methylator prototype, or CIMP: higher levels of CpG island hypermethylation are found in CIMP. (wikipedia.org)
  • Colorectal carcinoma (CRC) with CpG island methylator phenotype (CIMP) is recognized as a distinct subgroup of CRC, and CIMP status affects prognosis and response to chemotherapy. (biomedcentral.com)
  • The CpG island methylator phenotype: what's in a name? (ugent.be)
  • We evaluated whether chromosomal aberrations, mutations in the PI(3)K signalling pathway and the CpG-island methylator phenotype (CIMP) in primary colorectal tumours can predict liver metastases. (lu.se)
  • Hypermethylation of CpG islands at active gene promoters leads to transcriptional repression, whereas hypomethylation is associated with gene overexpression. (nih.gov)
  • BGC CpG islands don't match with the original notion of CpG islands (unmethylated regions that are typically found near gene promoters), and their current grouping with the classical unmethylated is misleading. (epigenie.com)
  • Of women with a BRCA1/2 mutation, none showed methylation of HIN-1 and only 1 of 15 women showed CpG island methylation of RARB M4, INK4a/ARF, or PRB promoters. (umn.edu)
  • Conclusions: This is the first evidence of CpG island methylation of tumor suppressor gene promoters in non-BRCA1/2 familial breast cancer. (umn.edu)
  • CpG islands (CGIs) are key regulatory DNA elements at most promoters, but how they influence the chromatin status and transcription remains elusive. (ox.ac.uk)
  • Finally, we found enrichment of CpG-containing DNA motifs in CFP1 peaks at CGI promoters. (biomedcentral.com)
  • We found that CFP1 is not solely recruited to CpG islands as it was originally defined, but also other regions including non-CpG island promoters and enhancers. (biomedcentral.com)
  • CpG island hypermethylation is a phenomenon that is important for the regulation of gene expression in cancer cells, as an epigenetic control aberration responsible for gene inactivation. (wikipedia.org)
  • Cancer epigenetic silencing in its current state was born in the labs of Baylin and Jones, where it was proven that CpG island hypermethylation was a common inactivation mechanism of the tumor suppressor gene p16INK4a. (wikipedia.org)
  • These three evolutionary regimes, combined with exonic CpG islands and repetitive elements, form a new framework for understanding patterns of DNA methylation in the human genome that the authors believe will become more and more important as more epigenetic profiles continue to be generated. (epigenie.com)
  • CpG island methylation plays an important role in epigenetic gene control during mammalian development and is frequently altered in disease situations such as cancer. (mpg.de)
  • Data mining for 5′-end CpG island methylation of TUSC3, ATRNL1, POMT1 and SAMD4A in cancer cell lines and primary tumors showed that the epigenetic defect was commonly observed among different tumor types in association with the diminished expression of the corresponding transcript. (oncotarget.com)
  • These features, called CpG islands, were identified over 20 years ago, but there remains little mechanistic evidence to suggest how these enigmatic elements contribute to promoter function, except that they are refractory to epigenetic silencing by DNA methylation. (ox.ac.uk)
  • Gene silence via methylation of the CpG islands is cancer's most common epigenetic modification. (biomedcentral.com)
  • In this study, we show that low levels of CpG island methylation occur in the normal intestinal mucosa of Apc(Min/+) mice and are increased in Multiple Intestinal Metaplasia (Min) polyps. (nih.gov)
  • We show that a combination of Dnmt1 hypomorphic alleles results in the complete suppression of polyp formation and an accompanying reduction in the frequency of CpG island methylation in both the normal intestinal mucosa and intestinal adenomas. (nih.gov)
  • The reason for methylation to be almost exclusive to CpG dinucleotides is the symmetry of the dinucleotide. (wikipedia.org)
  • The CpG count is the number of CG dinucleotides in the island. (ucsc.edu)
  • In the human genome, is DNA methylation mostly restricted to the cytosines of CpG dinucleotides. (biomedcentral.com)
  • In vertebrate genomes, CpG dinucleotides are relatively depleted, except in specific DNA regions with a high density of this dinucleotide. (biomedcentral.com)
  • Nucleation of KDM2A at these elements results in removal of H3K36 methylation, creating CpG island chromatin that is uniquely depleted of this modification. (ox.ac.uk)
  • These data expose a straightforward mechanism through which KDM2A delineates a unique architecture that differentiates CpG island chromatin from bulk chromatin. (ox.ac.uk)
  • The SAM domain-containing protein 1 (SAMD1) acts as a repressive chromatin regulator at unmethylated CpG islands. (ox.ac.uk)
  • These regions are known as CpG islands (CGIs) and consist of short (~ 1000 bp) interspersed CpG-rich and predominantly unmethylated DNA sequences [ 1 ], which are associated with transcriptionally permissive chromatin state [ 2 ]. (biomedcentral.com)
  • Hypermethylation of CpG islands has been described in almost every type of tumor. (wikipedia.org)
  • Transcriptional inactivation and CpG island (CGI) methylation of GATA transcription factor family members GATA3 and GATA5 have been reported for a few types of human cancer. (uni-luebeck.de)
  • Gardiner-Garden M, Frommer M. CpG islands in vertebrate genomes . (ucsc.edu)
  • High-powered researchers from the Weizmann Institute of Science in Israel developed new evolutionary models, combined with meta-analysis of DNA methylation data to study primate genomes, and decipher the origins of CpG islands. (epigenie.com)
  • A CpG island is a cytosine and guanine linked by a phosphate in a repeated sequence. (wikipedia.org)
  • Our results show that three groups of DNA attributes, namely certain sequence patterns, specific DNA repeats, and a particular DNA structure, are each highly correlated with CpG island methylation (correlation coefficients of 0.64, 0.66, and 0.49, respectively). (mpg.de)
  • In summary, our results suggest that DNA composition of CpG islands (sequence, repeats, and structure) plays a significant role in predisposing CpG islands for DNA methylation. (mpg.de)
  • CpG islands were predicted by searching the sequence one base at a time, scoring each dinucleotide (+17 for CG and -1 for others) and identifying maximally scoring segments. (ucsc.edu)
  • The entire genome sequence, masking areas included, was used for the construction of the track Unmasked CpG . (ucsc.edu)
  • The track CpG Islands is constructed on the sequence after all masked sequence is removed. (ucsc.edu)
  • The features for prediction include those that have been previously demonstrated effective (CpG island specific attributes, DNA sequence composition patterns, DNA structure patterns, distribution patterns of conserved transcription factor binding sites and conserved elements, and histone methylation status) as well as those that have not been extensively explored but are likely to contribute additional information from a biological point of view (nucleosome positioning propensities, gene functions, and histone acetylation status). (biomedcentral.com)
  • The goal of this study is to show that a computational epigenetics approach can discriminate between CpG islands that are prone to methylation from those that remain unmethylated. (mpg.de)
  • DNA methylation of intragenic CpG islands depends on their transcriptional activity during differentiation and disease. (ox.ac.uk)
  • The human genome contains ∼30,000 CpG islands (CGIs). (ox.ac.uk)
  • This is particularly important at regulatory regions, such as CpG islands (CGIs), which are known to recruit Trithorax (TrxG) and Polycomb group proteins. (biomedcentral.com)
  • Colorectal cancer will not necessarily have the same set of hypermethylated CpG islands as in a glioma, and this clinical distinctness of tumors can be interpreted by doctors. (wikipedia.org)
  • Colorectal cancers with widespread CpG island methylation display a number of distinct clinicopathological features, and it has been suggested that the condition has an inheritable genetic component. (edu.au)
  • CpG islands are typically common near transcription start sites and may be associated with promoter regions. (ucsc.edu)
  • Initially, the presence of alterations in the profile of DNA methylation in cancer was seen as a global hypomethylation of the genome that would lead to massive overexpression of oncogenes with a normally hypermethylated CpG island. (wikipedia.org)
  • It is evident that the hypomethylation of the CpG island in normal cells provides no additional steric hindrance to future binding. (wikipedia.org)
  • Microarray analysis showed hypomethylation in 7 and hypermethylation in 32 CpG islands. (nih.gov)
  • CpG islands and their methylation patterns are the epigeneticists bread and butter, and it's been assumed by many that there are evolutionary reasons behind their existence. (epigenie.com)
  • We predicted, and subsequently experimentally examined 12 CpG islands from human Chromosome 21 with unknown methylation patterns and found more than 90% of our predictions to be correct. (mpg.de)
  • We examined the interaction between CpG island hypermethylation and tumorigenesis by genetically modulating expression levels of the predominant DNA methyltransferase, Dnmt1, in Apc(Min/+) mice. (nih.gov)
  • Work done in the last decade has also demonstrated that ncRNAs with growth-inhibitory functions can undergo promoter CpG island hypermethylation-associated silencing in tumorigenesis. (oncotarget.com)
  • Their work uncovered at least three major evolutionary modes controlling the creation and upkeep of CpG-rich genomic regions. (epigenie.com)
  • Genomic fragments adjacent to one of these islands were used to isolate cDNAs from both HeLa cells and cultured cystic epithelium that encode a 155-amino acid peptide having four putative transmembrane domains. (johnshopkins.edu)
  • The authors analyzed 16 matched normal and tumor tissues for aberrant DNA methylation using the methylated CpG island amplification and microarray method and the pyrosequencing technique. (nih.gov)
  • These elements deaminate quickly, but also gain CpGs rapidly leading to high stationary CpG content. (epigenie.com)
  • CpG islands are regions where CpGs are present at significantly higher levels than is typical for the genome as a whole. (ucsc.edu)
  • The first discovery of methylation in a CpG island of a tumor suppressor gene in humans was that of the Retinoblastoma (Rb) gene in 1989. (wikipedia.org)
  • A human putative lymphocyte G0/G1 switch gene containing a CpG-rich island encodes a small basic protein with the potential to be phosphorylated. (wikidata.org)
  • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. (medlineplus.gov)
  • Regions called biased gene conversion (BGC) CpG islands, are constitutively methylated and clustered in subtelomeric regions. (epigenie.com)
  • These regions are typically methylated and may be sequences that were previously protected from methylation or underwent biased gene conversion, but then lost the mechanism stabilizing their CpG content. (epigenie.com)
  • The unmasked version of the track displays potential CpG islands that exist in repeat regions and would otherwise not be visible in the repeat masked version. (ucsc.edu)
  • Normally a C (cytosine) base followed immediately by a G (guanine) base (a CpG) is rare in vertebrate DNA because the Cs in such an arrangement tend to be methylated. (ucsc.edu)
  • It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. (cancerindex.org)
  • KDM2A utilizes a zinc finger CxxC (ZF-CxxC) domain that preferentially recognizes nonmethylated CpG DNA, and binding is blocked when the CpG DNA is methylated, thus constraining KDM2A to nonmethylated CpG islands. (ox.ac.uk)
  • SAMD1 has an atypical winged-helix domain that directly recognizes unmethylated CpG-containing DNA via simultaneous interactions with both the major and the minor groove. (ox.ac.uk)
  • Here we have investigated nc886 in gastric cancer where its expression is suppressed due to CpG DNA hypermethylation at its promoter region in a cohort of paired tumor/normal tissues from 88 gastric cancer patients. (oncotarget.com)
  • CpG hypermethylation of nc886 and thus its diminished expression is significantly associated with poor survival in these cancer patients. (oncotarget.com)
  • CpG Islands" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
  • Methods: CpG island promoter methylation was tested in the initial random periareolar fine-needle aspiration sample from 109 asymptomatic women at high risk for breast cancer. (umn.edu)
  • These attributes are scored on 132 CpG islands across the entire human Chromosome 21, whose methylation status was previously established for normal human lymphocytes. (mpg.de)
  • Here, we develop CpGIMethPred, the support vector machine-based models to predict the methylation status of the CpG islands in the human genome under normal conditions. (biomedcentral.com)
  • Comprehensive analysis of CpG islands in human chromoseme 21 and 22. (geneimprint.com)
  • The Percentage CpG is the ratio of CpG nucleotide bases (twice the CpG count) to the length. (ucsc.edu)
  • The ratio of observed to expected CpG is calculated according to the formula (cited in Gardiner-Garden et al . (ucsc.edu)
  • CpG islands recruit a histone H3 lysine 36 demethylase. (ox.ac.uk)
  • Here we show that CpG islands directly recruit the H3K36-specific lysine demethylase enzyme KDM2A. (ox.ac.uk)
  • Statistical tests are performed to identify the features that are significantly correlated with the methylation status of the CpG islands, and principal component analysis is then performed to decorrelate the selected features. (biomedcentral.com)
  • New data suggests that not all CpG islands were created equal, and much like Donald Trump's hair, can't entirely be explained by natural selection. (epigenie.com)
  • CpG islands and its associated tables can be explored interactively using the REST API , the Table Browser or the Data Integrator . (ucsc.edu)
  • CpG island hypermethylation shows promise for molecular monitoring of patients with cancer, and is also a potential target for therapeutic use. (wikipedia.org)
  • This graph shows the total number of publications written about "CpG Islands" by people in this website by year, and whether "CpG Islands" was a major or minor topic of these publications. (rush.edu)