The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A 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 regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
A group of 13 or more deoxyribonucleotides in which the phosphate residues of each deoxyribonucleotide act as bridges in forming diester linkages between the deoxyribose moieties.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
The presence of an uncomplimentary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA; (NUCLEIC ACID HETERODUPLEXES).
Any method used for determining the location of and relative distances between genes on a chromosome.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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 condensation product of riboflavin and adenosine diphosphate. The coenzyme of various aerobic dehydrogenases, e.g., D-amino acid oxidase and L-amino acid oxidase. (Lehninger, Principles of Biochemistry, 1982, p972)
Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
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).
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
A coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)
Genotypic differences observed among individuals in a population.
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.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).
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.
Nicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5'-phosphate (NMN) coupled by pyrophosphate linkage to the 5'-phosphate adenosine 2',5'-bisphosphate. It serves as an electron carrier in a number of reactions, being alternately oxidized (NADP+) and reduced (NADPH). (Dorland, 27th ed)
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.
DNA present in neoplastic tissue.
Deletion of sequences of nucleic acids from the genetic material of an individual.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
An individual having different alleles at one or more loci regarding a specific character.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
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 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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Transport proteins that carry specific substances in the blood or across cell membranes.
Protein motif that contains a 33-amino acid long sequence that often occurs in tandem arrays. This repeating sequence of 33-amino acids was discovered in ANKYRIN where it is involved in interaction with the anion exchanger (ANION EXCHANGE PROTEIN 1, ERYTHROCYTE). Ankyrin repeats cooperatively fold into domains that mediate molecular recognition via protein-protein interactions.

Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. (1/344)

The natriuretic peptide (NP) system may play a crucial role in development of essential hypertension (EH). C-type NP dilates arteries and lowers blood pressure and inhibits proliferation of vascular smooth muscle cells via the type B NP receptor (NPR-B). However, the association of the human NPR-B gene with EH has not been studied, because little is known about the genomic organization of this gene. We designed oligonucleotide primers based on the cDNA sequence of the human NPR-B gene, and long-range polymerase chain reaction (PCR) was performed. The amplified fragments were sequenced directly, and the exon/intron organization of the human NPR-B gene was determined. The gene, which spans approximately 16.5 kbp, is composed of 22 exons, and the intron-exon junctions follow the GT-AG rule. Seven hundred fifty base pairs of the 5'-flanking region were sequenced using a thermal asymmetric interlaced-PCR (TAIL-PCR) method. This region contains 10 potential Sp1 binding sites and lacks a TATA box. Rapid amplification of cDNA ends (RACE) revealed the transcriptional start site at -14 bp. A CA/GT microsatellite repeat was identified with a hybridization-based method and was converted to a sequence-tagged site (STS). The GT microsatellite repeat was localized to intron 2 approximately 150 bp downstream of the exon-intron junction. Two alleles, (GT)10 and (GT)11, were detected in both EH patients and age-matched normotensive (NT) controls. Multiple logistic linear regression analysis indicated that the NPR-B genotype is associated significantly with EH (odds ratio 1.55; 95% confidence interval, 1.02 to 2.35). The (GT)11 frequency was 0.316 (65/206) for the EH group and 0.218 (44/202) for the NT group and differed significantly between the EH and NT groups (chi2=4.97, P=0.026). The structural organization of the human NPR-B gene was determined, and a novel GT repeat polymorphism, which associated with EH, was identified. These results suggest that one cause of EH is a mutation in this gene or a closely related gene or region.  (+info)

Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1. (2/344)

The influence of a highly polymorphic CA dinucleotide repeat in the epidermal growth factor receptor (EGFR) gene on transcription was examined with a quantitative nuclear run-off method. We could demonstrate that transcription of the EGFR gene is inhibited by approximately 80% in alleles with 21 CA repeats. In experiments with polymerase chain reaction products that spanned a region of more than 4,000 base pairs and contained the promoter, two enhancers, and the polymorphic region in the first intron of the gene, we found that transcription activity declines with increasing numbers of CA dinucleotides. In vivo pre-mRNA expression data from cultured cell lines support these findings, although other regulation mechanisms can outweigh this effect. In addition, we showed that under our experimental conditions RNA elongation terminates at a site closely downstream of the simple sequence repeat and that there are two separate major transcription start sites. Our results provide new insights in individually different EGFR gene expression and the role of the CA repeat in transcription of this proto-oncogene.  (+info)

Mutated gene-specific phenotypes of dinucleotide repeat instability in human colorectal carcinoma cell lines deficient in DNA mismatch repair. (3/344)

Mutations in DNA mismatch repair (MMR) genes in hereditary non-polyposis colon cancer (HNPCC) patients revealed the importance of MMR deficiency as a risk for carcinogenesis. Since diverse mutations occur in several MMR genes, the instability of repeat sequences dispersed in the genome, which are also governed by the MMR system, is a well used marker. However, the relationship between repeat sequence instability and MMR gene mutation in human cells has not been well defined mainly because precise systems to analyse repeat sequences have not been available. Using our newly developed system, we analysed alteration of dinucleotide repeats in human cell lines which harbour mutations in MMR genes. Among 24 subclones of DLD-1 cells (hMSH6-) only one had a dinucleotide repeat alteration in only one microsatellite locus, while LoVo cells (hMSH2-/hMSH6-) exhibited marked dinucleotide repeat instability (DRI). HCT116 cells, a hMLH1-mutant, showed an ultimate DRI phenotype. Interestingly, SW48 cells lacking hMLH1 expression also demonstrated DRI, albeit the extent of diversity being significantly lower than HCT116. These data suggest that the DRI phenotype in human cells is highly dependent on mutated MMR genes and on forms of mutation. The results of DRI analyses used to detect MMR-deficiency should be interpreted with caution.  (+info)

Distribution of dinucleotide microsatellites in the Drosophila melanogaster genome. (4/344)

Microsatellites, a special class of repetitive DNA, have become one of the most popular genetic markers. The progress of various genome projects has made it possible to study the genomic distribution of microsatellites and to evaluate the potential influence of several parameters on their genesis. We report the distribution of dinucleotide microsatellites in the genome of Drosophila melanogaster. When considering only microsatellites with five or more repeat units, the average length of dinucleotide repeats in D. melanogaster is 6.7 repeats. We tested a wide range of parameters which could potentially influence microsatellite density, and we did not detect a significant influence of recombination rate, number of exons, or total length of coding sequence. In concordance with the neutral expectation for the origin of microsatellites, a significant positive correlation between AT content and (AT/TA)n microsatellite density was detected. While this pattern may indicate that microsatellite genesis is a random process, we also found evidence for a nonrandom distribution of microsatellites. Average microsatellite density was higher on the X chromosome, but extreme heterogeneity was observed between different genomic regions. Such a clumping of microsatellites was also evident on a more local scale, as 38.9% of the contiguous sequences analyzed showed a deviation from a random distribution of microsatellites.  (+info)

Analysis of estrogen receptor dinucleotide polymorphism by capillary gel electrophoresis with a population genetic study in 180 Finns. (5/344)

We developed a suitable method for analysing dinucleotide repeats found in the upstream of human alpha-estrogen receptor (ER) gene by applying capillary electrophoresis and automatic analysis. This method omits the gel-casting step as well as difficult handling of long polyacrylamide sequencing gels. Use of radioactive materials is also avoided. Using this method, the frequency distribution of ER alleles, determined in 180 Finnish individuals showed two peaks at 12 and 14 repeats (166 and 168 bp) and also at 22 and 24 repeats (184 and 186 bp). The overall distribution of alleles seemed to be similar to that found among Italian and Japanese populations.  (+info)

Finding new human minisatellite sequences in the vicinity of long CA-rich sequences. (6/344)

Microsatellites and minisatellites are two classes of tandem repeat sequences differing in their size, mutation processes, and chromosomal distribution. The boundary between the two classes is not defined. We have developed a convenient, hybridization-based human library screening procedure able to detect long CA-rich sequences. Analysis of cosmid clones derived from a chromosome 1 library show that cross-hybridizing sequences tested are imperfect CA-rich sequences, some of them showing a minisatellite organization. All but one of the 13 positive chromosome 1 clones studied are localized in chromosomal bands to which minisatellites have previously been assigned, such as the 1pter cluster. To test the applicability of the procedure to minisatellite detection on a larger scale, we then used a large-insert whole-genome PAC library. Altogether, 22 new minisatellites have been identified in positive PAC and cosmid clones and 20 of them are telomeric. Among the 42 positive PAC clones localized within the human genome by FISH and/or linkage analysis, 25 (60%) are assigned to a terminal band of the karyotype, 4 (9%) are juxtacentromeric, and 13 (31%) are interstitial. The localization of at least two of the interstitial PAC clones corresponds to previously characterized minisatellite-containing regions and/or ancestrally telomeric bands, in agreement with this minisatellite-like distribution. The data obtained are in close agreement with the parallel investigation of human genome sequence data and suggest that long human (CA)s are imperfect CA repeats belonging to the minisatellite class of sequences. This approach provides a new tool to efficiently target genomic clones originating from subtelomeric domains, from which minisatellite sequences can readily be obtained. [The sequence data described in this paper have been submitted to the EMBL data library under accession nos. AJ000377-AJ000383.]  (+info)

Genetic mechanisms of age regulation of human blood coagulation factor IX. (7/344)

Blood coagulation capacity increases with age in healthy individuals. Through extensive longitudinal analyses of human factor IX gene expression in transgenic mice, two essential age-regulatory elements, AE5' and AE3', have been identified. These elements are required and together are sufficient for normal age regulation of factor IX expression. AE5', a PEA-3 related element present in the 5' upstream region of the gene encoding factor IX, is responsible for age-stable expression of the gene. AE3', in the middle of the 3' untranslated region, is responsible for age-associated elevation in messenger RNA levels. In a concerted manner, AE5' and AE3' recapitulate natural patterns of the advancing age-associated increase in factor IX gene expression.  (+info)

Structural bistability of repetitive DNA elements featuring CA/TG dinucleotide steps and mode of evolution of satellite DNA. (8/344)

Satellite DNA sequences are known to be important components required for the construction of centromeres and are common to all higher eukaryotes. Nevertheless, their nucleotide sequences vary significantly, even in evolutionarily related species. In order to elucidate how the nucleotide sequences define the conformational character of centromeric satellite DNA, an evolutionary path toward repetitive units has been hypothesized. In that context, the DNA conformation of fish satellite DNA was evaluated in two ways: the organization of subrepeats and sequence characteristics were compared, and the differences in stacking energies between A-helix and B-helix and the sequence-dependent bendability of the helices were evaluated. Our findings suggest that the monomeric units making up currently observed repetitive sequences have evolved through stepwise amplification of shorter, ancestral sequences by increasing the length of the units. In addition, we suggest that potentially key sequences required for DNA amplification comprise highly flexible structures. Thus flexibility of the DNA structure may be a primary prerequisite for DNA amplification.  (+info)

Dinucleotide repeats are a type of simple sequence repeat (SSR) in DNA, which consists of two adjacent nucleotides that are repeated in tandem. In the case of dinucleotide repeats, the repetitive unit is specifically a pair of nucleotides, such as "AT" or "CG." These repeats can vary in length from person to person and can be found throughout the human genome, although they are particularly prevalent in non-coding regions.

Expansions of dinucleotide repeats have been associated with several neurological disorders, including Huntington's disease, myotonic dystrophy, and fragile X syndrome. In these cases, the number of repeat units is unstable and can expand over generations, leading to the onset of disease. The length of the repeat expansion can also correlate with the severity of symptoms.

Repetitive sequences in nucleic acid refer to repeated stretches of DNA or RNA nucleotide bases that are present in a genome. These sequences can vary in length and can be arranged in different patterns such as direct repeats, inverted repeats, or tandem repeats. In some cases, these repetitive sequences do not code for proteins and are often found in non-coding regions of the genome. They can play a role in genetic instability, regulation of gene expression, and evolutionary processes. However, certain types of repeat expansions have been associated with various neurodegenerative disorders and other human diseases.

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.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

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.

Satellite DNA is a type of DNA sequence that is repeated in a tandem arrangement in the genome. These repeats are usually relatively short, ranging from 2 to 10 base pairs, and are often present in thousands to millions of copies arranged in head-to-tail fashion. Satellite DNA can be found in centromeric and pericentromeric regions of chromosomes, as well as at telomeres and other heterochromatic regions of the genome.

Due to their repetitive nature, satellite DNAs are often excluded from the main part of the genome during DNA sequencing projects, and therefore have been referred to as "satellite" DNA. However, recent studies suggest that satellite DNA may play important roles in chromosome structure, function, and evolution.

It's worth noting that not all repetitive DNA sequences are considered satellite DNA. For example, microsatellites and minisatellites are also repetitive DNA sequences, but they have different repeat lengths and arrangements than satellite DNA.

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.

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.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

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 "Polydeoxyribonucleotides" is not a widely recognized or established medical term. It seems to be a made-up or very obscure term that combines "poly," meaning many, "deoxy," referring to the lack of a hydroxyl group at the 2' carbon position in the ribose sugar, and "ribonucleotides," which are the building blocks of RNA.

If you meant "Polydeoxynucleotides" instead, it would refer to long, synthetic chains of deoxynucleotides, which are the building blocks of DNA. These chains can be used in various biochemical and biological research applications, such as studying enzyme mechanisms or constructing genetic circuits.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.

For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:

p = (number of copies of allele A) / (total number of all alleles at that locus)

Similarly, the gene frequency of allele a (denoted as q) would be:

q = (number of copies of allele a) / (total number of all alleles at that locus)

Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.

A base pair mismatch is a type of mutation that occurs during the replication or repair of DNA, where two incompatible nucleotides pair up instead of the usual complementary bases (adenine-thymine or cytosine-guanine). This can result in the substitution of one base pair for another and may lead to changes in the genetic code, potentially causing errors in protein synthesis and possibly contributing to genetic disorders or diseases, including cancer.

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.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

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.

Flavin-Adenine Dinucleotide (FAD) is a coenzyme that plays a crucial role in various metabolic processes, particularly in the electron transport chain where it functions as an electron carrier in oxidation-reduction reactions. FAD is composed of a flavin moiety, riboflavin or vitamin B2, and adenine dinucleotide. It can exist in two forms: an oxidized form (FAD) and a reduced form (FADH2). The reduction of FAD to FADH2 involves the gain of two electrons and two protons, which is accompanied by a significant conformational change that allows FADH2 to donate its electrons to subsequent components in the electron transport chain, ultimately leading to the production of ATP, the main energy currency of the cell.

Trinucleotide repeats refer to a specific type of DNA sequence expansion where a particular trinucleotide (a sequence made up of three nucleotides) is repeated multiple times. In normal genomic DNA, these repeats are usually present in a relatively stable and consistent range. However, when the number of repeats exceeds a certain threshold, it can result in an unstable genetic variant known as a trinucleotide repeat expansion.

These expansions can occur in various genes and are associated with several neurogenetic disorders, such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The length of the trinucleotide repeat tends to expand further in subsequent generations, which can lead to anticipation – an earlier age of onset and increased severity of symptoms in successive generations.

The most common trinucleotide repeats involve CAG (cytosine-adenine-guanine) or CTG (cytosine-thymine-guanine) repeats, although other combinations like CGG, GAA, and GCT can also be involved. These repeat expansions can result in altered gene function, protein misfolding, aggregation, and toxicity, ultimately leading to the development of neurodegenerative diseases and other clinical manifestations.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

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.

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.

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.

MutS Homolog 2 (MSH2) Protein is a type of protein involved in the DNA repair process in cells. It is a member of the MutS family of proteins, which are responsible for identifying and correcting mistakes that occur during DNA replication. MSH2 forms a complex with another MutS homolog, MSH6, and this complex plays a crucial role in recognizing and binding to mismatched base pairs in the DNA. Once bound, the complex recruits other proteins to repair the damage and restore the integrity of the DNA. Defects in the MSH2 gene have been linked to an increased risk of certain types of cancer, including hereditary non-polyposis colorectal cancer (HNPCC) and uterine cancer.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

NAD (Nicotinamide Adenine Dinucleotide) is a coenzyme found in all living cells. It plays an essential role in cellular metabolism, particularly in redox reactions, where it acts as an electron carrier. NAD exists in two forms: NAD+, which accepts electrons and becomes reduced to NADH. This pairing of NAD+/NADH is involved in many fundamental biological processes such as generating energy in the form of ATP during cellular respiration, and serving as a critical cofactor for various enzymes that regulate cellular functions like DNA repair, gene expression, and cell death.

Maintaining optimal levels of NAD+/NADH is crucial for overall health and longevity, as it declines with age and in certain disease states. Therefore, strategies to boost NAD+ levels are being actively researched for their potential therapeutic benefits in various conditions such as aging, neurodegenerative disorders, and metabolic diseases.

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.

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.

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.

Nucleic acid conformation refers to the three-dimensional structure that nucleic acids (DNA and RNA) adopt as a result of the bonding patterns between the atoms within the molecule. The primary structure of nucleic acids is determined by the sequence of nucleotides, while the conformation is influenced by factors such as the sugar-phosphate backbone, base stacking, and hydrogen bonding.

Two common conformations of DNA are the B-form and the A-form. The B-form is a right-handed helix with a diameter of about 20 Å and a pitch of 34 Å, while the A-form has a smaller diameter (about 18 Å) and a shorter pitch (about 25 Å). RNA typically adopts an A-form conformation.

The conformation of nucleic acids can have significant implications for their function, as it can affect their ability to interact with other molecules such as proteins or drugs. Understanding the conformational properties of nucleic acids is therefore an important area of research in molecular biology and medicine.

Tandem Repeat Sequences (TRS) in genetics refer to repeating DNA sequences that are arranged directly after each other, hence the term "tandem." These sequences consist of a core repeat unit that is typically 2-6 base pairs long and is repeated multiple times in a head-to-tail fashion. The number of repetitions can vary between individuals and even between different cells within an individual, leading to genetic heterogeneity.

TRS can be classified into several types based on the number of repeat units and their stability. Short Tandem Repeats (STRs), also known as microsatellites, have fewer than 10 repeats, while Minisatellites have 10-60 repeats. Variations in the number of these repeats can lead to genetic instability and are associated with various genetic disorders and diseases, including neurological disorders, cancer, and forensic identification.

It's worth noting that TRS can also occur in protein-coding regions of genes, leading to the production of repetitive amino acid sequences. These can affect protein structure and function, contributing to disease phenotypes.

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.

NADP (Nicotinamide Adenine Dinucleotide Phosphate) is a coenzyme that plays a crucial role as an electron carrier in various redox reactions in the human body. It exists in two forms: NADP+, which functions as an oxidizing agent and accepts electrons, and NADPH, which serves as a reducing agent and donates electrons.

NADPH is particularly important in anabolic processes, such as lipid and nucleotide synthesis, where it provides the necessary reducing equivalents to drive these reactions forward. It also plays a critical role in maintaining the cellular redox balance by participating in antioxidant defense mechanisms that neutralize harmful reactive oxygen species (ROS).

In addition, NADP is involved in various metabolic pathways, including the pentose phosphate pathway and the Calvin cycle in photosynthesis. Overall, NADP and its reduced form, NADPH, are essential molecules for maintaining proper cellular function and energy homeostasis.

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.

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.

A sequence deletion in a genetic context refers to the removal or absence of one or more nucleotides (the building blocks of DNA or RNA) from a specific region in a DNA or RNA molecule. This type of mutation can lead to the loss of genetic information, potentially resulting in changes in the function or expression of a gene. If the deletion involves a critical portion of the gene, it can cause diseases, depending on the role of that gene in the body. The size of the deleted sequence can vary, ranging from a single nucleotide to a large segment of DNA.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.

In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.

In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.

Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.

Minisatellites, also known as VNTRs (Variable Number Tandem Repeats), are repetitive DNA sequences that consist of a core repeat unit of 10-60 base pairs, arranged in a head-to-tail fashion. They are often found in non-coding regions of the genome and can vary in the number of times the repeat unit is present in an individual's DNA. This variation in repeat number can occur both within and between individuals, making minisatellites useful as genetic markers for identification and forensic applications. They are also associated with certain genetic disorders and play a role in genome instability.

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.

These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.

It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

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.

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.

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.

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

An ankyrin repeat is a protein structural motif, which is characterized by the repetition of a 33-amino acid long sequence. This motif is responsible for mediating protein-protein interactions and is found in a wide variety of proteins with diverse functions. Ankyrin repeats are known to play a role in various cellular processes such as signal transduction, cell cycle regulation, and ion transport. In particular, ankyrin repeat-containing proteins have been implicated in various human diseases, including cardiovascular disease, neurological disorders, and cancer.

Bodenteich A, Mitchell LG, Polymeropoulos MH, Merril CR (May 1992). "Dinucleotide repeat in the human mitochondrial D-loop". ...
Rosen DR, Brown RH (1993). "Dinucleotide repeat polymorphism in the HOX4E locus". Hum. Mol. Genet. 2 (5): 617. doi:10.1093/hmg/ ...
Nishimura DY, Leysens NJ, Murray JC (1992). "A dinucleotide repeat for the D1S53 locus". Nucleic Acids Res. 20 (5): 1167. doi: ...
Phromchotikul T, Browne DL, Curran ME, Keating MT, Litt M (Sep 1993). "Dinucleotide repeat polymorphism at the KCNA5 locus". ... This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed ... "A discrete amino terminal domain of Kv1.5 and Kv1.4 potassium channels interacts with the spectrin repeats of alpha-actinin-2 ...
Bodenteich A, Mitchell LG, Polymeropoulos MH, Merril CR (May 1992). "Dinucleotide repeat in the human mitochondrial D-loop". ...
Bodenteich A, Mitchell LG, Polymeropoulos MH, Merril CR (May 1992). "Dinucleotide repeat in the human mitochondrial D-loop". ...
Bodenteich A, Mitchell LG, Polymeropoulos MH, Merril CR (May 1992). "Dinucleotide repeat in the human mitochondrial D-loop". ...
Bodenteich A, Mitchell LG, Polymeropoulos MH, Merril CR (May 1992). "Dinucleotide repeat in the human mitochondrial D-loop". ...
Box NF, Sturm RA (December 1994). "Dinucleotide repeat polymorphism at the human TYRP1 locus". Human Molecular Genetics. 3 (12 ...
Bodenteich A, Mitchell LG, Polymeropoulos MH, Merril CR (May 1992). "Dinucleotide repeat in the human mitochondrial D-loop". ...
Dinucleotide repeats of DRD5 gene are associated with ADHD in humans. 136-bp allele of the gene was shown to be a protective ... The short dinucleotide repeat allele is associated with ADHD, but not the long one. Another allele of DRD5 that is moderately ... "Shorter dinucleotide repeat length in the DRD5 gene is associated with attention deficit hyperactivity disorder". Psychiatric ...
Fougerousse F, Meloni R, Roudaut C, Beckmann JS (March 1992). "Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 ... Hess J, Perez-Stable C, Wu GJ, Weir B, Tinoco I, Shen CK (July 1985). "End-to-end transcription of an Alu family repeat. A new ... "Distinctive sequence organization and functional programming of an Alu repeat promoter". Proceedings of the National Academy of ...
Weber B, Riess O, Daneshvar H, Graham R, Hayden MR (June 1993). "(CA)n-dinucleotide repeat at the PDEB locus in 4p16.3". Human ... Pérez-Jurado LA, Francke U (June 1993). "Dinucleotide repeat polymorphism at the human pituitary adenylate cyclase activating ...
Rogaev EI, Keryanov SA, Malyako YK (Jul 1992). "Dinucleotide repeat polymorphisms at the P1, HBE1 and MYH7 loci". Human ...
1993). "A chromosome 10p11.2 Gt-dinucleotide repeat polymorphism at the GLUDP5 gene locus". Hum. Mol. Genet. 2 (8): 1328. doi: ...
Hentati A, Hu P, Asgharzadeh S, Siddique T (1993). "Dinucleotide repeat polymorphism at the human erythroid alpha spectrin ( ... The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker ...
Rogaev EI, Keryanov SA (1993). "Unusual variability of the complex dinucleotide repeat block at the SPN locus". Hum. Mol. Genet ...
Fougerousse F, Meloni R, Roudaut C, Beckmann JS (1992). "Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 ... A dinucleotide deletion produces a frameshift and a termination codon". J. Biol. Chem. 263 (9): 4328-32. doi:10.1016/S0021-9258 ... 1985). "End-to-end transcription of an Alu family repeat. A new type of polymerase-III-dependent terminator and its ... Perez-Stable C, Ayres TM, Shen CK (1984). "Distinctive sequence organization and functional programming of an Alu repeat ...
Fougerousse F, Meloni R, Roudaut C, Beckmann JS (1992). "Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 ...
"Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat". Proc. Natl. Acad. Sci. U.S.A. ...
"Vectorette PCR isolation of microsatellite repeat sequences using anchored dinucleotide repeat primers". Nucleic Acids Research ... Vectorette PCR was used to uncover SSRs which flank the trinucleotide repeat that was targeted for testing. This is also known ... They have attempted and succeeded in using this technique to isolate an amount of six microsatellite repeats. Vectorette PCR ... Hilario, Elena; Fraser, Lena G.; McNeilage, Mark (2009-03-10). "Trinucleotide Repeats as Bait for Vectorette PCR: A Tool for ...
1999). "A GT dinucleotide repeat polymorphism in intron 1 of the H-cadherin (CDH13) gene". J. Hum. Genet. 43 (4): 285-6. doi: ...
When exactly two nucleotides are repeated, it is called a dinucleotide repeat (for example: ACACACAC...). The microsatellite ... The Tandem Repeats Database The Microorganisms Tandem Repeats Database Short Tandem Repeats Database Tandem Repeats in major ... Microsatellite Minisatellite ProRepeat Satellite DNA Tandem Repeats Database Tandem repeat locus Variable number tandem repeats ... Tandem Repeats over the Edit Distance TandemSWAN Microsatellite repeats finder JSTRING - Java Search for Tandem Repeats in ...
Short repeats include mainly dinucleotide repeats (two repeating nucleotides e.g. A-C-A-C-A-C...) and trinucleotide repeats. ... Long repeats include repeats of entire genes. This classification based on size of the repeat is the most obvious type of ... therefore this is more applicable to short repeats such as dinucleotide or trinucleotide repeats. Amylase is an enzyme in ... The short repeat size of these copy number variations lends itself to errors in the polymerase as these repeated regions are ...
Stoffel M, Xiang K, Bell GI (November 1992). "Dinucleotide repeat polymorphism at the human ribophorin II locus (RPN2) on ...
The overlapping promoter regions have repeats of the dinucleotide TA in the -10 and -35 sequences. Through SSM the TA repeat ... SSM can result in an increase or decrease in the number of short repeat sequences. The short repeat sequences are 1 to 7 ... If there is a change in the short repeat sequence it can affect the binding of a regulatory protein, such as an activator or ... Translation of a protein can be regulated by SSM if the short repeat sequences are in the coding region of the gene (top ...
They integrate between an AT host dinucleotide. Some families of Helitrons also carry tandem repeats, like microsatellites and ... De novo repeat identification approaches which can be used to build consensus libraries of all repeated sequences, but De novo ... A repeat-based search requires extensive manual curation to identify Helitron families, an overwhelming task in large genomes ... These approaches are limited by the quality of the genome assembly and the homogeneity of the repeats. Another approach is ...
Glatt KA, Sinnett D, Lalande M (1993). "Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at ... Ritchie RJ, Mattei MG, Lalande M (1998). "A large polymorphic repeat in the pericentromeric region of human chromosome 15q ...
Sakurai A, Bell GI, DeGroot LJ (Oct 1992). "Dinucleotide repeat polymorphism in the human thyroid hormone receptor alpha gene ( ... Desai-Yajnik V, Samuels HH (1994). "Regulation of the human immunodeficiency virus type 1 long terminal repeat: interactions of ... long terminal repeat and the HIV-1 Tat transactivator". Journal of Virology. 69 (8): 5103-12. doi:10.1128/JVI.69.8.5103- ...
This SNP allows the dinucleotide repeat (CpG) elements to occur providing a gene segment for methylation. Thus DNA methylation ...
Dinucleotide repeat polymorphism at the D3S196 locus J L Weber 1 , P E May, D Patterson, H Drabkin, A M Killary ... Dinucleotide repeat polymorphism at the D3S196 locus J L Weber et al. Nucleic Acids Res. 1990. . ... Dinucleotide repeat polymorphism at the D8S161 locus. Couch FJ, McCarthy TV, Gregg RG, Hogan K. Couch FJ, et al. Nucleic Acids ... Dinucleotide repeat polymorphism at the D17S518 locus. Couch FJ, McCarthy TV, Gregg RG, Hogan K. Couch FJ, et al. Nucleic Acids ...
TA dinucleotide repeat. Located in the 3 untranslated region; unknown effect. g1008c (V89L). Amino acid substitution. ... CAG trinucleotide repeat (exon 1). Structurally altered protein. GGN trinucleotide repeat (exon1). Structurally altered protein ... CAG trinucleotide repeat (exon 1). Structurally altered protein. GGN trinucleotide repeat (exon1). Structurally altered protein ... CAG trinucleotide repeat (exon 1). Structurally altered protein. GGN trinucleotide repeat (exon1). Structurally altered protein ...
Bodenteich A, Mitchell LG, Polymeropoulos MH, Merril CR (May 1992). "Dinucleotide repeat in the human mitochondrial D-loop". ...
Rosen DR, Brown RH (1993). "Dinucleotide repeat polymorphism in the HOX4E locus". Hum. Mol. Genet. 2 (5): 617. doi:10.1093/hmg/ ...
This is the first study to characterize the dinucleotide repeat polymorphism of the Flt-1 gene in patients with preeclampsia. ... The region containing the dinucleotide repeat polymorphism of the Flt-1 gene was amplified by polymerase chain reaction (PCR) ... We found 10 alleles of the dinucleotide repeat polymorphism and designated these as allele*12 (A1) through allele*23 (A12) ... n repeat polymorphism in the 3 non-coding region of the Flt-1 gene. The number of the d(TG)n repeats was analyzed in 170 ...
Microsatellites - Di-nucleotide and Tri-nucleotide Repeats. RepeatMasker Viz.. hide. dense. full. Detailed Visualization of ... Repeating Elements by RepeatMasker. Interrupted Rpts. hide. dense. squish. pack. full. Fragments of Interrupted Repeats Joined ... Simple Repeats. hide. dense. squish. pack. full. Simple Tandem Repeats by TRF. ...
Microsatellites - Di-nucleotide and Tri-nucleotide Repeats. RepeatMasker Viz.. hide. dense. full. Detailed Visualization of ... Repeating Elements by RepeatMasker. Interrupted Rpts. hide. dense. squish. pack. full. Fragments of Interrupted Repeats Joined ... Simple Repeats. hide. dense. squish. pack. full. Simple Tandem Repeats by TRF. ...
Functional MMR deficiency under hypoxia was detected as induced instability of a (CA)(29) dinucleotide repeat and by increased ... Dinucleotide Repeats; Enzyme Inhibitors/pharmacology; Fibroblasts/cytology; Fibroblasts/metabolism; Genes, Reporter; HeLa Cells ...
Trinucleotide repeats were the main type, accounting for 45.92% of the total SSRs. The dominant repeat types were dinucleotide ... The dominant SSR types were dinucleotide and tronucleotide, accounting for 21.22% and 8.18%, respectively. The polymorphism of ... or low-copies of conserved core nucleotide sequences that allow the development of simple sequence repeats (SSRs) DNA markers. ... conserved sequence motifs for the development of simple sequence repeats ( SSRs). The total of 262 113 ESTs of sugarcane ( ...
In addition to repeats, analysis of the coding region reported 23 full-length eukaryotic orthologous proteins (KOGS) and ... A combination of homology and de novo methodologies were applied to identify both conserved and novel repeats. Similarity ... long terminal repeat) retrotransposons. Through de novo approaches, 6,270 novel, full-length transposable element families and ... Accurate annotation of these ancient genomes would be aided by a comprehensive repeat library; however, few studies have ...
... n dinucleotide repeat within the full sequence at broken or non-broken (TA)n repeats in KM12 cells. n = 5,400 (broken) and n = ... n dinucleotide repeats within the full annotated sequence at broken or non-broken (TA)n repeats in KM12 cells. n = 5,400 ( ... n repeats; B(TA)n- represents cases in which only one breakpoint overlaps with a broken (TA)n repeat. B(TA)n, broken TA repeat ... and di-nucleotide repeats in PCR-free whole-genome sequencing libraries made from HCT116 cells. (TA)n repeats are split into ...
Microsatellites - Di-nucleotide and Tri-nucleotide Repeats. RepeatMasker Viz.. hide. dense. full. Detailed Visualization of ... Repeating Elements by RepeatMasker. Interrupted Rpts. hide. dense. squish. pack. full. Fragments of Interrupted Repeats Joined ... Simple Repeats. hide. dense. squish. pack. full. Simple Tandem Repeats by TRF. ...
Microsatellites - Di-nucleotide and Tri-nucleotide Repeats. RepeatMasker Viz.. hide. dense. full. Detailed Visualization of ... Repeating Elements by RepeatMasker. Interrupted Rpts. hide. dense. squish. pack. full. Fragments of Interrupted Repeats Joined ... Simple Repeats. hide. dense. squish. pack. full. Simple Tandem Repeats by TRF. ...
Microsatellites - Di-nucleotide and Tri-nucleotide Repeats. RepeatMasker Viz.. hide. dense. full. Detailed Visualization of ... Repeating Elements by RepeatMasker. Interrupted Rpts. hide. dense. squish. pack. full. Fragments of Interrupted Repeats Joined ... Simple Repeats. hide. dense. squish. pack. full. Simple Tandem Repeats by TRF. ...
However, in the nonmetastatic group, the number of CA repeats ranged between 17 and 18. This difference in the median number of ... Conclusion: A potential relationship may exist between lymphatic metastasis in breast cancer and the number of CA repeats in ... Our study indicates a potential association between the number of CA microsatellite repeats in the promoter region of the ... Results: The number of CA repeats ranged between 19 and 21 in the control and metastatic groups. ...
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat ...
Microsatellites - Di-nucleotide and Tri-nucleotide Repeats. RepeatMasker Viz.. hide. dense. full. Detailed Visualization of ... Repeating Elements by RepeatMasker. Interrupted Rpts. hide. dense. squish. pack. full. Fragments of Interrupted Repeats Joined ... Simple Repeats. hide. dense. squish. pack. full. Simple Tandem Repeats by TRF. ...
Microsatellites - Di-nucleotide and Tri-nucleotide Repeats. RepeatMasker Viz.. hide. dense. full. Detailed Visualization of ... Repeating Elements by RepeatMasker. Interrupted Rpts. hide. dense. squish. pack. full. Fragments of Interrupted Repeats Joined ... Simple Repeats. hide. dense. squish. pack. full. Simple Tandem Repeats by TRF. ...
Microsatellites - Di-nucleotide and Tri-nucleotide Repeats. RepeatMasker Viz.. hide. dense. full. Detailed Visualization of ... Repeating Elements by RepeatMasker. Interrupted Rpts. hide. dense. squish. pack. full. Fragments of Interrupted Repeats Joined ... Simple Repeats. hide. dense. squish. pack. full. Simple Tandem Repeats by TRF. ...
Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced ...
Dinucleotide repeat polymorphisms of RAD51, BRCA1, BRCA2 gene regions in breast cancer.. Nowacka-Zawisza M; Brys M; Romanowicz- ...
Most LTR-RTs contain dinucleotides TG and CA at the ends of the two LTRs. Here we report the structure, evolution, and ... Long terminal repeat retrotransposons (LTR-RTs) are the major DNA components in flowering plants. ... Long terminal repeat retrotransposons (LTR-RTs) are the major DNA components in flowering plants. Most LTR-RTs contain ... dinucleotides TG and CA at the ends of the two LTRs. Here we report the structure, evolution, and propensity of a tomato ...
What Are the Frequencies and Sizes of Simple Sequence Repeats?. Which Sequences Are Present at the Centromeres?. What Are the ... What Is the Frequency of Each Dinucleotide?. Does Base Composition Vary Among the Chromosomes?. ... simple sequence repeats, or protein kinases are encoded in the genome? What are the largest genes and proteins? How similar are ...
... from different Hawaiian Islands for a CT-dinucleotide repeat. (MS41). Each island is represented with 8 sequences. The repeat ... repeats, 10 repeats for di-, 6 repeats for tri-, 5 repeats for ... identified as a dinucleotide repeat in Msatcommander. Many. ... from different Hawaiian Islands for a CT-dinucleotide repeat (MS41). Each island is represented with 8 sequences. The repeat ... A) Subsection of genotyping plots for the allelic distribution of a CT-dinucleotide repeat locus (TG_MS41) for two happy face ...
Li H, Schmidt L, Duh F, et al. Three polymorphic dinucleotide repeats near the von Hippel Lindau (VHL) disease gene on human ...
... and penta-nucleotide simple sequence repeats were identified. We have developed the first high quality EST resource for black ... Among the dinucleotide and trinucleotide repeats AT, and CAG motifs, respectively, were the most abundant. SSR markers have ... Simple sequence repeats. A total of 57 different di-, tri-, tetra-, and penta-nucleotide repeats were identified among the P. ... and three pentanucleotide repeats. Dinucleotide motifs were the most frequent (72%), followed by trinucleotide motifs, which ...
Repeating unit. Mononucleotides (1 bp). Dinucleotides (2 bp). Arrangement of sugar residues. ...
  • Dinucleotide repeat polymorphism at the D3S666 locus. (nih.gov)
  • Dinucleotide repeat polymorphism at the D17S518 locus. (nih.gov)
  • A dinucleotide repeat polymorphism in a tau intron was identified and used in a case-control study to analyze the genetic association of tau with several neurodegenerative diseases with tau pathology. (nih.gov)
  • Lack of association between estrogen receptor beta dinucleotide repeat polymorphism and autoimmune thyroid diseases in Japanese patients. (cdc.gov)
  • Trinucleotide repeats were the main type, accounting for 45.92% of the total SSRs. (usda.gov)
  • Typical examples include sickle cell trait and malaria, BRCA2 mutations and breast carcinoma, and trinucleotide repeats and a variety of neurologic diseases, including Huntington disease. (biomedcentral.com)
  • A number of other mutations occur, including deletion or insertion of one or more nucleotides, and insertion of multiple repeating sequences (e.g. the trinucleotide repeats mentioned above). (biomedcentral.com)
  • Expressed DNA sequence tags (ESTs) from the first portion often contain single- or low-copies of conserved core nucleotide sequences that allow the development of simple sequence repeats (SSRs) DNA markers. (usda.gov)
  • Expressed sequence tags ( ESTs) offer the opportunity to exploit single, low -copy, conserved sequence motifs for the development of simple sequence repeats ( SSRs). (usda.gov)
  • Simple sequence repeats (SSRs) offer an effective molecular marker technology for molecular-based breeding and for locating important loci in crop plants, but only a few have previously been developed in sweet potato. (techscience.com)
  • The main motif types in all repeats were AT/AT, AAT/ATT, A/T, AAAT/ATTT, AAAAT/ATTTT and AAAAAT/ATTTTT accounting for 78.29% of the total SSRs. (techscience.com)
  • Also called simple sequence repeats (SSRs), these are tandemly arranged blocks of short nucleotide sequences, usually 1-10 nucleotides long (though more typically 2 or 3), repeated up to 50 times. (integratedbreeding.net)
  • Each pattern is composed of up to ten conserved nucleotides or dinucleotides distributed into a discontinuous motif. (biomedcentral.com)
  • The results showed that repeat unit at LEI0094 locus was a simple di-nucleotide of (AC)n for most alleles while the remaining alleles had their (AC) n irregularly interrupted by one or two (GA) nucleotides. (scialert.net)
  • In the case of 5'dCGTACG, subtle local structural variations associated with the pyrimidine and purine nucleotides are superimposed on the overall structure but the mononucleotide repeating unit is preserved. (nih.gov)
  • The most common of the microsatellite tandem repeats ( MICROSATELLITE REPEATS ) dispersed in the euchromatic arms of chromosomes. (nih.gov)
  • 3 8 De novo methylation is thought to be initiated at embryogenesis by attraction of DNA methyl transferase to hairpin-like unimolecular fold backs of CGG repeat sequences expanded beyond a threshold of repeat length. (bmj.com)
  • A transposon consists of several genes flanked by terminal repeat sequences. (i-sis.org.uk)
  • A few SNPs detected in upstream flanking sequences and specific combinations of basic structural units in repeat sequences of MCW0330 and LEI0094 loci contributed to define not only alleles different in both fragment sizes and sequence structures but also to alleles of the same fragment sizes but different in sequence structures that may lead to different peak patterns observed during genotyping exercise. (scialert.net)
  • The average frequency was one SSR per 6.26 kb, with dinucleotides (38.5%) being the most dominant repeat motif. (techscience.com)
  • The di-nucleotide motif "AG" is repeated 6 times in this example of a microsatellite. (integratedbreeding.net)
  • We discuss advantages and drawbacks of the use of microsatellites for a range of research questions, and highlight an unexpectedly fast decay and gain of repeat loci for T. grallator. (researchgate.net)
  • In a recently published paper, we have found that SARS-CoV-2 hot-spot mutations are significantly associated with inverted repeat loci and CG dinucleotides (Goswami, Bartas et al. (muni.cz)
  • Using an open-access Palindrome analyzer tool we found mutations in these new strains to be significantly enriched in inverted repeat loci. (muni.cz)
  • We investigated the effect of the number of cytosine-adenine (CA) repeats in the ADAMTS9 promoter region on breast cancer lymphatic metastasis. (tubitak.gov.tr)
  • Following DNA isolation from the cancer tissue specimens and peripheral blood, the promoter region of the ADAMTS9 gene was directly sequenced and the number of CA repeats was determined. (tubitak.gov.tr)
  • 9 10 By lateral spreading, each individual CpG dinucleotide may be involved 11-13 particularly in the CGG repeat and the FMR1 promoter. (bmj.com)
  • We measured global genomic DNA methylation content estimated in Alu and long interspersed nuclear element-1 (LINE-1) repeated elements, and promoter DNA methylation of iNOS (inducible nitric oxide synthase), a gene suppressed by DNA methylation and induced by PM exposure in blood leukocytes. (nih.gov)
  • AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia. (cdc.gov)
  • On the other hand, MCW0330 locus carried a very complicated compound microsatellite consisted of three big structural blocks as its repeat units. (scialert.net)
  • Furthermore, 14,262 microsatellite motifs were identified, with 11,208 transcripts containing at least one simple sequence repeat, including 48% of di/trinucleotide motifs. (biomedcentral.com)
  • Over 60% of the repetitive sequence consists of full or partial LTR (long terminal repeat) retrotransposons. (plos.org)
  • How many mobile elements, simple sequence repeats, or protein kinases are encoded in the genome? (cshlpress.com)
  • What Are the Frequencies and Sizes of Simple Sequence Repeats? (cshlpress.com)
  • Fifty-seven di-, tri-, tetra- and penta-nucleotide simple sequence repeats were identified. (biomedcentral.com)
  • The SPDI name, with its four operations, defines exactly the reference subsequence potentially affected by the variant, even in low complexity regions such as homopolymer and dinucleotide sequence repeats. (biorxiv.org)
  • We used simple sequence repeat (SSR) markers that could be transferred from Manihot esculenta (cassava) to analyze the genetic relationships among 45 accessions of J. curcas from our germplasm collection. (biomedcentral.com)
  • The traditional methods of developing simple sequence repeat (SSR) markers are usually time-consuming and labor-intensive. (biomedcentral.com)
  • Inter-simple sequence repeat (ISSR) markers were used to evaluate genetic similarity and interrelationship among 104 plum ( Prunus L. spp. (ashs.org)
  • In this study, we performed genome survey sequencing of P. palustre and developed simple sequence repeat (SSR) markers based on the resulting sequence. (bvsalud.org)
  • Within the 500 base pairs of the bacterial chromosome analysed, 21 of the 23 possible TA dinucleotide insertion sites were occupied (1). (i-sis.org.uk)
  • In addition to repeats, analysis of the coding region reported 23 full-length eukaryotic orthologous proteins (KOGS) and another 29 novel or orthologous genes. (plos.org)
  • Increase of FMRP expression, raised levels ofFMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations? (bmj.com)
  • 1-3 Disease alleles, containing more than 220 CGG triplets and designated full mutations, only arise upon transmission from a mother who carries a premutation allele that is characterised by repeat sizes between 60 and 200 and is not associated with intellectual deficits. (bmj.com)
  • Fragile X syndrome is a triplet repeat expansion syndrome of mental retardation caused by mutational expansion of an untranslated CGG repeat located in the first exon of the fragile X mental retardation gene ( FMR1 ). (bmj.com)
  • Functional MMR deficiency under hypoxia was detected as induced instability of a (CA)(29) dinucleotide repeat and by increased mutagenesis in a chromosomal reporter gene. (nih.gov)
  • 11. Dinucleotide repeat polymorphisms of RAD51, BRCA1, BRCA2 gene regions in breast cancer. (nih.gov)
  • Nicotinic acid adenine dinucleotide phosphate (NAADP) receptor that may function as one of the major voltage-gated Ca(2+) channels (VDCC) across the lysosomal membrane. (nih.gov)
  • The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. (nih.gov)
  • Fragile X syndrome is a triplet repeat disorder caused by expansions of a CGG repeat in the fragile X mental retardation gene ( FMR1 ) to more than 220 triplets (full mutation) that usually coincide with hypermethylation and transcriptional silencing. (bmj.com)
  • On continual cell proliferation to 30 doublings we re-examined the behaviour of the expanded repeats on Southern blots and also determined the expression of the FMR1 gene by FMRP immunocytochemistry, western analysis, and RT-PCR. (bmj.com)
  • One element belonging to this superfamily, Hirmar1 , isolated from the horn fly, was used to make 'minitransposons' consisting of the short inverted terminal repeats, between which any gene expression cassette(s) can be inserted. (i-sis.org.uk)
  • This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. (nih.gov)
  • Long terminal repeat retrotransposons (LTR-RTs) are the major DNA components in flowering plants. (purdue.edu)
  • The experiment shows that the transposon can be stripped down to the bare minimum of the flanking repeats, and it can still jump into genomes. (i-sis.org.uk)
  • In contrast, 5'dACGCGCGT has a clear alternating structure with a dinucleotide repeat, alternation occurring in the local helical twist and the glycosidic bond, sugar pucker and phosphodiester backbone conformations. (nih.gov)
  • Increased ploidy level and individual repeats in high copy number are common in angiosperms but are rarely seen in gymnosperms [4] , [5] . (plos.org)
  • Results: The number of CA repeats ranged between 19 and 21 in the control and metastatic groups. (tubitak.gov.tr)
  • The piggyBac is 2.5kb long with 13 bp inverted terminal repeats. (i-sis.org.uk)
  • A potential association between the number of CA repeats in the promot" by MİKDAT BOZER, FATMA AŞIK et al. (tubitak.gov.tr)
  • The number of repeat units in the block can vary noticeably between individuals within a species. (integratedbreeding.net)
  • 4-7 Repeat expansion into the full mutation size range usually coincides with de novo methylation of the fragile X chromosome region. (bmj.com)

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