• Mutations
  • False negatives may be due to somatic mutations in the IgH gene at or near the primer binding sites. (ufl.edu)
  • The process of tumorigenesis frequently involves protein kinase activation events, which can result from either mutations, or chromosomal rearrangements. (wikipedia.org)
  • Mutations in the gene lead to hyperuricemia: Some men have partial (up to 20% less activity of the enzyme) HGPRT deficiency that causes high levels of uric acid in the blood, which leads to the development of gouty arthritis and the formation of uric acid stones in the urinary tract. (wikipedia.org)
  • A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. (wikipedia.org)
  • Several oncogenic mutations in prostate cancer occur through chromoplexy, such as disruption of the tumor suppressor gene PTEN or creation of the TMPRSS2-ERG fusion gene. (wikipedia.org)
  • Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. (wikipedia.org)
  • The large and diverse population of antibody paratope is generated by random recombination events of a set of gene segments that encode different antigen-binding sites (or paratopes), followed by random mutations in this area of the antibody gene, which create further diversity. (wikipedia.org)
  • proteins
  • Generation of junctional diversity starts as the proteins, recombination activating gene-1 and -2 (RAG1 and RAG2), along with DNA repair proteins, such as Artemis, are responsible for single-stranded cleavage of the hairpin loops and addition of a series of palindromic, 'P' nucleotides. (wikipedia.org)
  • Cancer cells are constantly using a variety of tools, involving genes, proteins and altered pathways, to ensure their survival against antineoplastic drugs. (wikipedia.org)
  • Expression of the proteins encoded by these tyrosine kinase fusion genes can, in most cases, be shown to function independently as oncogenic drivers, capable of activating critical downstream pathways involved in the malignant phenotype, resulting in transformation of cells in vitro. (wikipedia.org)
  • Entrectinib is a selective tyrosine kinase inhibitor with specificity, at low nanomolar concentrations, for all of three Trk proteins (encoded by the NTRK1, 2, and 3 genes, respectively) as well as the ROS1, and ALK receptor tyrosine kinases. (wikipedia.org)
  • The adenine-thymine rich hairpin loops of the Borrelia bacteria range in size from 5 kilobase pairs (kb) to over 200 kb and contain the genes responsible for producing a group of major surface proteins, or antigens, on the bacteria that allow it to evade the immune response of its infected host. (wikipedia.org)
  • genome
  • These states include the genetic sequence (ancestral sequence reconstruction), the amino acid sequence of a protein, the composition of a genome (e.g., gene order), a measurable characteristic of an organism (phenotype), and the geographic range of an ancestral population or species (ancestral range reconstruction). (wikipedia.org)
  • Since cancer is a genetic disease, two genomic events underlie acquired drug resistance: Genome alterations (e.g. gene amplification and deletion) and epigenetic modifications. (wikipedia.org)
  • Chromosomal rearrangement due to genome instability can cause gene amplification and deletion. (wikipedia.org)
  • Chromoplexy: a new category of complex rearrangements in the cancer genome. (wikipedia.org)
  • cancers
  • In prostate cancers containing ETS+gene fusions (such as TMPRSS2-ERG), chromoplexy breakpoints are generally clustered within actively transcribed DNA and open chromatin. (wikipedia.org)
  • Amplification of the CCND1 gene is present in: non-small cell lung cancers (30-46%) head and neck squamous cell carcinomas (30-50%) pancreatic carcinomas (25%) bladder cancer (15%) pituitary adenomas (49-54%) breast carcinoma (13%) Cyclin D1 overexpression is strongly correlated to ER+ breast cancer and deregulation of cyclin D1 is associated with hormone therapy resistance in breast cancer. (wikipedia.org)
  • undergo
  • First, Küppers claims that, in contrast to what has been demonstrated in mice, 3 not all normal human B-cell progenitors undergo concurrent biallelic D H J H rearrangement during B-cell development, and he cites an analysis performed with Southern blot techniques of 26 B-cell lines derived from 3 individuals to support this claim. (bloodadvances.org)
  • 4 We analyzed publicly available IGH high-throughput sequencing (HTS) data derived from analysis of B-cell genomic DNA from 60 healthy individuals (available at https://clients.adaptivebiotech.com/immuneaccess ), and we conclude that the data strongly suggest that a very high fraction of normal human B cells do indeed undergo biallelic D H J H rearrangement. (bloodadvances.org)
  • chromosome
  • Gene amplification is the increase in copy number of a region of a chromosome. (wikipedia.org)
  • Hamster cell research in 1993 showed that amplifications in the DHFR gene involved in DNA synthesis began with chromosome break in below the gene, and subsequent cycles of bridge-breakage-fusion formations result in large intrachromosomal repeats. (wikipedia.org)
  • Gene deletion is the opposite of gene amplification, where a region of a chromosome is lost an drug resistance occurs by losing tumor suppressor genes such as TP53. (wikipedia.org)
  • The human CCNDI gene is located on the long arm of chromosome 11 (band 11q13). (wikipedia.org)
  • This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines the NUT midline carcinoma. (wikipedia.org)
  • antibody
  • Basically, the antibody paratope is polygenic, made up of three genes, V, D, and J. Each paratope locus is also polymorphic, such that during antibody production, one allele of V, one of D, and one of J is chosen. (wikipedia.org)
  • leukemia
  • Gardner JA, Bao L, Ornstein DL (2016) TSpontaneous Splenic Rupture in Acute Myeloid Leukemia with Mixed-Lineage Leukemia Gene Rearrangement. (omicsonline.org)
  • Rearrangement of the mixed lineage-leukemia gene (MLL-r) is common in hematological diseases and is generally associated. (economywatch.info)
  • We analyzed the frequency and characteristics of Vk-Jk and Vlambda-Jlambda rearrangements inpatients with precursor-B-acute lymphoblastic leukemia (ALL) and evaluated the applicability of these rearrangements as targets for minimal residual disease (MRD) detection. (haematologica.org)
  • The hybrid gene product ABL/BCR is an oncogene which could lead several types of leukemia including BAL. (wikipedia.org)
  • Most of biphenotypic leukemia in children is due to the rearrangement of MLL Besides them, other gene abnormalities has been reported. (wikipedia.org)
  • targets
  • The test is performed by using Invivoscribe Technologies' Gene Rearrangement Assay, which targets the joining region and all three of the conserved framework regions (FR 1 - 3) within the IGH gene. (ufl.edu)
  • protein
  • The CCND1 gene encodes the cyclin D1 protein. (wikipedia.org)
  • The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. (wikipedia.org)
  • This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. (wikipedia.org)
  • The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. (wikipedia.org)
  • Plasmid DNA vaccines are genetically engineered to contain a gene which encodes for an antigen or a protein produced by a pathogenic virus, bacterium or other parasite. (wikipedia.org)
  • occurs
  • This rearrangement occurs early in the differentiation process and creates novel T-cell receptors that mimic the structure of normal antibodies but are not able to function properly. (wikipedia.org)
  • translocation
  • The result suggested highly lineage-specific occurrence of several gene rearrangements, except for the translocation of the tRNA Pro gene from the 5' to 3' side of the control region, which likely occurred independently in both agamine and chamaeleonid lineages. (beds.ac.uk)
  • Most cases of NUT midline carcinoma involve translocation of the BRD4 with NUT genes. (wikipedia.org)
  • expression
  • Expression of mRNA hybridizing to the beta-chain gene probe was demonstrated for two A-T homozygotes (brother and sister) as well as for their mother (heterozygote). (mysciencework.com)
  • However, the rearrangement of several lambda variable subgenes can activate expression of an overlapping miRNA gene, which has consequences for gene expression regulation. (wikipedia.org)
  • Epigenetic modifications in antineoplastic drug resistance play a major role in cancer development and drug resistance as they contribute to the regulation of gene expression. (wikipedia.org)
  • In cancer cells, where normal regulation of gene expression breaks down, the oncogenes are activated via hypomethylation and tumor suppressors are silenced via hypermethylation. (wikipedia.org)
  • structural
  • Dr. Broach is using Bionano mapping to identify structural rearrangements in cancer cell. (economywatch.info)
  • In order to determine whether certain features of the patient-specific rearrangements could hold further prognostic clues or provide information on the cell of origin of ALL, a comprehensive analysis of structural and biological features (V gene usage, coding frame and mutational status and complementarity-determining region -III length) of 473 IG/TR rearrangements identified in 229 adults with ALL was carried out. (ox.ac.uk)
  • a catch-all term for events that generate complex structural chromosomal abnormalities The mechanism underlying complex rearrangements in chromoplexy has not been identified. (wikipedia.org)
  • detect
  • A semi-automated PCR method involving fluorescent-labeled PCR products and non-denaturing capillary electrophoresis is performed to detect only complete TCRB rearrangements. (mdanderson.org)
  • segments
  • Much of this diversity is caused by a great potential variability in CDR3 sequences in the TCR δ chain, but there is also diversity in the number of V, J, and (in the case of δ) D gene segments. (rupress.org)
  • At the adult stage, repression of the downstream Vγ4 and Vγ3 genes through elements associated with the promoter segments overrides the downstream advantage resulting in preferential rearrangement of the upstream Vγ2 and Vγ5 gene segments. (rupress.org)
  • Junctional diversity describes the DNA sequence variations introduced by the improper joining of gene segments during the process of V(D)J recombination. (wikipedia.org)
  • citation needed] Junctional diversity includes the process of somatic recombination or V(D)J recombination, during which the different variable gene segments (those segments involved in antigen recognition) of TCRs and immunoglobulins are rearranged and unused segments removed. (wikipedia.org)
  • These gene segments are then joined together using random genetic recombination to produce the paratope. (wikipedia.org)
  • recombination
  • Our gene targeting studies show that the downstream Vγ genes rearrange preferentially in the early fetal thymus because of their downstream location, independent of promoter or recombination signal sequences and unrelated to the extent of germline transcription. (rupress.org)
  • analysis
  • Vk-Jk and Vlambda-Jlambda rearrangements showed a good stability between diagnosis and relapse and reached good sensitivities in real-time quantitative polymerase chain reaction analysis. (haematologica.org)
  • adult
  • Upstream Vγ2 and Vγ5 genes are expressed in later waves in the adult and constitute most TCRγδ + T cells in secondary lymphoid tissue. (rupress.org)
  • This developmental pattern is caused in part by a preference for rearrangements of the downstream Vγ3 and Vγ4 genes in the early fetal stage, which switches to a preference for rearrangements of the upstream Vγ2 and Vγ5 gene rearrangements in the adult. (rupress.org)
  • mechanism
  • These data provide a mechanism for specialization of the fetal thymus for the production of T cells expressing specific Vγ genes. (rupress.org)
  • cells
  • These rearrangements are associated with the development of a large repertoire of diverse B-cells, allowing them to protect against many different kinds of infections. (labtestsonline.org)
  • Within any normal population (sample) of B cells, the cells and their gene rearrangement profiles are very diverse. (labtestsonline.org)
  • A B-cell immunoglobulin gene rearrangement test evaluates the cells in a person's sample to determine whether the majority of B-cell rearrangement profiles are diverse or identical. (labtestsonline.org)
  • The Vγ3 and Vγ4 genes, located downstream in the TCRγ Cγ1 gene cluster, are expressed by the earliest waves of developing TCRγδ + T cells in the fetal thymus, destined for intraepithelial locations. (rupress.org)
  • The fact that the total number of unique productive V H D H J H , nonproductive V H D H J H , and incomplete D H J H rearrangements detected in these 60 individuals was almost exactly twice the number of unique productive V H D H J H rearrangements strongly supports biallelic D H J H rearrangement in most developing human B cells. (bloodadvances.org)
  • Chromoplexy refers to a class of complex DNA rearrangement observed in the genomes of cancer cells. (wikipedia.org)
  • Sequence
  • Acrodontan mitogenomes were found to be less conservative than iguanid counterparts with respect to gene arrangement features and rates of sequence evolution. (beds.ac.uk)
  • Phylogenetic relationships were constructed with the mitogenomic sequence data and timing of gene rearrangements was inferred on it. (beds.ac.uk)