• In contrast, T cell specimens usually rearranged both alleles of T beta (15 of 18), the rearrangement could be confirmed with a second restriction enzyme (17 of 18), both alleles of the first constant region gene segment of T beta always underwent either rearrangement or deletion, and the T gamma gene was also rearranged or deleted (17 of 18). (jci.org)
  • Analysis of the gene space of 5DS suggested an increasing gradient of genes organized in islands towards the telomere, with the highest gene density of 5.17 genes/Mb in the 0.67-0.78 deletion bin, 1.4 to 1.6 times that of all other bins. (biomedcentral.com)
  • When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties. (medlineplus.gov)
  • Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA. (ox.ac.uk)
  • Gene reduction analysis revealed that the gene deletion processes are under selective pressure, and many of the inactivations are probably related to the organism's interaction with its host environment. (asm.org)
  • Prime editors (PEs) are precision gene editing agents that can perform virtually any substitution, small deletion and small insertion at target DNA sites in living cells 2 . (nature.com)
  • In this study, we constructed the first comprehensive physical map of wheat chromosome arm 5DS, thereby exploring its gene space organization and evolution. (biomedcentral.com)
  • Here, we provide a chromosome-specific view into the organization and evolution of the D genome of bread wheat, in comparison to one of its ancestors, revealing recent genome rearrangements. (biomedcentral.com)
  • 2) If the normal X's of such hyperploids carry the recessive gene for yellow, the flies are wild-type in appearance because of the presence of +y in the duplicating chromosome. (caltech.edu)
  • In a series of papers, Serebrovsky (1930), Dubinin (1929), Agol (1930) and their colleagues have described an extremely interesting group of bristle-reducing mutant genes lying at the scute locus of the X-chromosome of Drosophila melanogaster. (caltech.edu)
  • A recent paper in this journal by Detlefsen(1) is introduced as follows: "There is a well intrenched concept of recent genetics that hereditary factors or genes may be given fairly definite loci on chromosome maps and that these maps correspond to or represent, roughly perhaps, the actual conditions in the chromosome. (caltech.edu)
  • Morgan considered these two genes as lying in a "second chromosome," the first chromosome being the sex chromosome. (caltech.edu)
  • The purpose of this study was to test the hypothesis that deletions of varying sizes in de novo apparently balanced chromosome rearrangements are a significant cause of phenotypic abnormalities. (nih.gov)
  • of genetic material, in the region of chromosome 7 that contains the TWIST1 gene. (medlineplus.gov)
  • Researchers believe that a loss of other genes on chromosome 7 may be responsible for these additional features. (medlineplus.gov)
  • Imatinib has a 95% response rate in patients with chronic myeloid leukemia (caused by a chromosomal rearrangement called the Philadelphia chromosome) and extends quality-adjusted life . (cdc.gov)
  • In certain circumstances, when a lymph node is not easily accessible for excisional or incisional biopsy, a combination of core biopsy and FNA biopsies in conjunction with appropriate ancillary techniques for the differential diagnosis (immunohistochemistry, flow cytometry, PCR for IGHV and TCR gene rearrangements, karyotype, and fluorescence in situ hybridization [FISH] for major translocations) may be sufficient for diagnosis. (medscape.com)
  • Thus 57 additional EH cases lacking FOSB rearrangements were studied for FOS gene abnormalities by fluorescence in situ hybridization, and results were correlated with morphologic appearance and clinical presentation. (tmu.edu.tw)
  • Even so, the team's follow-up analyses - including RNA sequencing experiments - indicated that rearrangements stemming from extrachromosomal circular DNA from MYCN and other genes may be a recurrent and ongoing source of new mutations through a multi-hit model in neuroblastoma. (genomeweb.com)
  • The scute mutations involve changes in blocks of these sub-genes, but of different blocks. (caltech.edu)
  • It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a variant of Saethre-Chotzen syndrome. (medlineplus.gov)
  • Mutations in the TWIST1 gene cause Saethre-Chotzen syndrome. (medlineplus.gov)
  • Mutations in the TWIST1 gene prevent one copy of the gene in each cell from making any functional protein. (medlineplus.gov)
  • Do Parents Pass Gene Mutations to Children? (kidshealth.org)
  • Do All Gene Mutations Cause Health Problems? (kidshealth.org)
  • Most gene mutations have no effect on health. (kidshealth.org)
  • Using three cDNA clones, covering the 3' end of the alpha 5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. (ox.ac.uk)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • SCID results from mutations in any of more than 15 known genes. (medscape.com)
  • It's possible that the shortcoming to show the clonality from CXD101 the large and light string gene rearrangements of immunoglobulins in plasmacytomas is because of somatic hypermutations taking place in primer binding sites. (irpa2006europe.com)
  • The antigen receptor loci are the only loci in humans to undergo programmed somatic gene modification. (lu.se)
  • PCR-based detection of rearranged T-cell receptor genes can be used to help establish a diagnosis of T-cell lymphoma, monitor for treatment response, and/or measure minimal residual disease (MRD). (ohsu.edu)
  • DNA (deoxyribonucleic acid is the carrier of all our genes. (kidshealth.org)
  • The total chromosomal content of a cell involves approximately 105 genes in a specialized macromolecule of deoxyribonucleic acid (DNA). (cdc.gov)
  • The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. (harvard.edu)
  • The increase in variability that is a familiar result of the rearing of second generations from crosses between different races is certainly due chiefly to segregation and recombination of genes in which the parental races differed. (caltech.edu)
  • Longitudinal analysis of this strain demonstrated the acquisition of two unique bla KPC plasmids and then subsequent within-strain genetic rearrangement through transposition and homologous recombination. (ox.ac.uk)
  • We find that chromosomal rearrangements and related recombination defects are major but not sole causes of hybrid infertility. (elifesciences.org)
  • Although aberrant V(D)J integration and class switch recombination can both give rise to chromosomal translocations, a role for somatic hypermutation in such genomic rearrangements has been suggested but is less clearly established. (lu.se)
  • To reduce the risk of analyzing cell line- pathway can be divided into distinct stages based on the specific features, we used several representative cell lines for recombination status of the Ig genes and on the expression each of four major stages in B cell development: pro-B, pre-B, pattern of surface markers and the presence of intracellular proteins [1- 6]. (lu.se)
  • Rearrangement of the genes for the beta and gamma chains of the T cell receptor is rarely observed in adult B cell lymphoma and chronic lymphocytic leukemia. (jci.org)
  • We determined the configuration of the genes for the beta (T beta) and gamma (T gamma) chains of the T cell receptor in DNA from 100 consecutive cases of B cell lymphoma and B cell chronic lymphocytic leukemia (B-CLL), and compared the findings with those in 18 T cell neoplasms. (jci.org)
  • We conclude that ordered rearrangement of the T cell receptor is a rare event in B cell lymphoma and B-CLL. (jci.org)
  • In conjunction with morphologic evaluation of lymph nodes, bone marrow and other tissue types the detection of a clonal T-cell gene rearrangement by polymerase chain reaction (PCR) can be used to aid a diagnosis of malignant T-cell lymphoma. (ohsu.edu)
  • Subsequent differentiation allows for rear- analysis of a set of mouse B lineage cell lines rep- rangements of the Ig light-chain (IgL) genes that replace the resenting defined stages of B cell development us- surrogate light-chain genes on the surface of the B cell [8]. (lu.se)
  • A) Genome alignment of historic and recent isolates showing large-scale genome rearrangements. (cdc.gov)
  • We demonstrate that the majority of genomic rearrangements in neuroblastoma involve circular DNA, challenging our current understanding about cancer genome remodeling," the authors wrote. (genomeweb.com)
  • Consequently, little is known about how gene expression changes in response to genomic rearrangements in plastids. (biomedcentral.com)
  • Breast tumors can be classified into subtypes based on patterns of gene expression, DNA methylation, nucleotide substitutions and genomic rearrangements. (lu.se)
  • ZNF384 rearrangement is the most frequent genetic lesion in adult PH-negative and Ph-like-negative B-other acute lymphoblastic leukemia. (harvard.edu)
  • T cell receptor gene studies allow B and T cell lymphomas to be distinguished from each other and from common acute lymphoblastic leukemia antigen-positive non-T, non-B acute lymphoblastic leukemia. (jci.org)
  • Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia. (nih.gov)
  • VPREB1 deletions occur independent of lambda light chain rearrangement in childhood acute lymphoblastic leukemia. (nih.gov)
  • Pathogenic germline sequence variants in two major susceptibility genes BRCA1 and BRCA2 confer a high relative risk and explain a proportion of familial breast cancer. (lu.se)
  • The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer. (lu.se)
  • Epigenetic balance ensures mechanistic control of MLL amplification and rearrangement. (harvard.edu)
  • The authors used multiplex ligation dependent probe amplification (MLPA) to screen for intragenic CACNA1A rearrangements. (bmj.com)
  • Side arrows in panels a and c indicate the position of the 3 kb IPCR bands resulting from the amplification of the intact ABL gene. (biomedcentral.com)
  • AR gene rearrangements occurring in the context of AR amplification correlated with AR overexpression. (wustl.edu)
  • In addition, the possibility of aberrant gene rearrangements was supported by noting the alteration of the c-myc gene locus in genomic DNA from peripheral blood leukocytes of VI and CH. Northern blot analysis of RNA isolated from peripheral blood B cells of VI and CH demonstrated aberrant transcripts of the c-myc gene, showing an active role of the altered c-myc locus. (aai.org)
  • We analyzed structural rearrangements at the genome-wide level and carried out a detailed structural rearrangement analysis of the AR locus. (wustl.edu)
  • Standard DNA sequencing methods may miss large scale genetic rearrangements such as deletions and duplications. (bmj.com)
  • The authors investigated whether large scale genetic rearrangements in CACNA1A can cause EA2 and FHM1. (bmj.com)
  • After a long period of evolution, the genetic composition of mt in most metazoans is now present consistently, suggesting that mt genes are important for maintaining the basic functions of mt 9 . (nature.com)
  • Our analysis highlights the apparent molecular propensity of K. quasipneumoniae to persist in the environment as well as acquire carbapenemase plasmids from other species and enabled an assessment of the genetic rearrangements which may facilitate horizontal transmission of carbapenemases. (ox.ac.uk)
  • With the advances in BMT and gene therapy, patients now have a better likelihood of developing a functional immune system in a previously lethal genetic disease. (medscape.com)
  • We sequenced the complete mt genome of W. compar and conducted phylogenetic analyses using concatenated coding sequences of 12 protein-coding genes (PCGs) by maximum likelihood and Bayesian inference. (nature.com)
  • Cancer is often the result of changes in more than one of these types of genes within a cell. (cancer.org)
  • Each of us has about 24,000 different types of genes. (kidshealth.org)
  • The discovery of ETS gene fusions as common events in prostate cancer represents a paradigmatic shift in the significance attributed to chromosomal translocations as a key mechanistic player in carcinogenesis. (bmj.com)
  • NEW YORK - New research suggests circularized DNA falling outside of linear chromosomes may serve as a recurrent source of somatic rearrangements in neuroblastoma, a pediatric cancer affecting immature cells in the sympathetic nervous system. (genomeweb.com)
  • We envision that our findings extend to other cancers and that further detailed analyses of circle-derived rearrangements will shed new insights into our understanding of cancer genome remodeling. (genomeweb.com)
  • The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. (figshare.com)
  • Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing data and RNA sequencing from a common set of 1220 cancer cases, we report hundreds of genes for which the presence within 100 kb of an SV breakpoint associates with altered expression. (figshare.com)
  • In addition, the use of gene expression profiling in breast cancer management has matured in the past few years propelled by the results of a prospective clinical trial . (cdc.gov)
  • Identification of Subtypes in Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Reveals a Gene Signature Prognostic of Outcome. (lu.se)
  • In the remaining case, no deletions were detected, and no known genes were apparently disrupted. (nih.gov)
  • Human leukocyte antigen (HLA) typing should be done early in the course of hypereosinophilic syndrome for patients with aggressive disease, cytogenetic aberration, or the FIPL1/PDGFRA fusion gene. (medscape.com)
  • Comparisons between the membrane-bound form of the coat protein and the previously determined structural form found in filamentous bacteriophage particles demonstrate that it undergoes a significant structural rearrangement during the membrane-mediated virus assembly process. (rcsb.org)
  • The N-terminal helix and the hinge that connects it to the transmembrane helix are significantly more dynamic than the rest of the protein, thus facilitating structural rearrangement during bacteriophage assembly. (rcsb.org)
  • We demonstrate that the expression of plastid coding genes is strongly functionally dependent among conifer species. (biomedcentral.com)
  • This finding indicates that plastomic rearrangement influences gene expression. (biomedcentral.com)
  • We also compared plastid gene expression levels among conifers and demonstrated a strong association between gene expression and plastomic rearrangements. (biomedcentral.com)
  • For the majority of these genes, expression increases rather than decreases with corresponding breakpoint events. (figshare.com)
  • We used genome engineering to perform experimental modeling of AR gene rearrangements and long-read RNA sequencing to analyze effects on expression ofARandtruncatedARvariants (AR-V). Results: AR was among the most frequently rearranged genes in CRPC tumors. (wustl.edu)
  • AR gene rearrangements promoted expression of diverse AR-V species. (wustl.edu)
  • Cell lines with experimentally derived AR gene rearrangements displayed high expression of tumor-specific AR-Vs andwere resistant to endocrine therapies, including the AR antagonist enzalutamide. (wustl.edu)
  • tures and gene expression patterns. (lu.se)
  • immature cell is then subjected to negative selection to delete grouped based on their previously defined pheno- self-reactive cells before it leaves the BM to enter peripheral typic features, and a gene expression pattern for lymphoid organs, where it becomes a mature B cell [9]. (lu.se)
  • the gene expression profile during B lymphoid differentiation. (lu.se)
  • We performed polymerase string response (PCR) of pieces from paraffin blocks to investigate the gene rearrangements of large stores and kappa light stores of immunoglobulins. (irpa2006europe.com)
  • Multiple dominant clones can be detected by polymerase chain reaction (PCR) of T-cell receptor gene usage, which supports a reactive process. (medscape.com)
  • Conclusions: AR gene rearrangements are an important mechanism of resistance to endocrine therapies in CRPC. (wustl.edu)
  • Single-nucleotide substitutions account for 95% of the mutational events in the VH gene, with small deletions and duplications accounting for most of the remaining. (lu.se)
  • This graph shows the total number of publications written about "Gene Rearrangement" by people in Harvard Catalyst Profiles by year, and whether "Gene Rearrangement" was a major or minor topic of these publication. (harvard.edu)
  • Using PCR generated, site-specific probes corresponding to the non-coding exons 1 and 2 and intron 2 of CHOP, rearrangements in five of seven tumors mapped to the 2.4 and 1.6 kbp PstI fragments that contain the first two exons and introns of the gene and the upstream promoter region. (lu.se)
  • Homologous gene blocks are denoted by the same color. (cdc.gov)
  • Rearrangement or overexpression of c-rel can cause tumorigenesis. (bvsalud.org)
  • We have long been puzzled by these findings because it is then unclear whether plastomic rearrangements affect plastid gene transcription. (biomedcentral.com)
  • This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. (medlineplus.gov)
  • Klebsiella quasipneumoniae was recently defined as a new species, yet its prevalence, niche, and propensity to acquire antimicrobial resistance genes are not fully described. (ox.ac.uk)
  • In order to determine whether this high production rate is related to a clonal B cell expansion, the rearrangement of the Ig genes was investigated by Southern blot analysis of genomic DNA extracted from the peripheral blood lymphocytes of four NCG patients. (aai.org)
  • We have used Southern blot technique to test whether a gene of the CCAAT/enhancer binding protein (C/EBP) family, CHOP, which maps to 12q13 and is assumed to be involved in adipocyte differentiation, could be the 12q gene in question. (lu.se)
  • Southern blot analysis of T-cell receptor genes from parapsoriasis does not identify a dominant clone of T cells. (medscape.com)
  • Association of VPREB1 Gene Copy Number Variation and Rheumatoid Arthritis Susceptibility. (nih.gov)
  • The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis. (nih.gov)
  • Molecular Detection of Oncogenic Gene Rearrangements. (harvard.edu)
  • Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936. (ohsu.edu)
  • Nested IPCR detection of DNA breakages within the ABL gene in H 2 O 2 -treated NP69. (biomedcentral.com)
  • On the basis of a novel FOS-LMNA gene fusion identified by RNA sequencing in an index case of a skeletal EH with typical morphology, we sought to investigate the prevalence of FOS rearrangement in a large cohort of EHs. (tmu.edu.tw)
  • Somatic DNA rearrangement generates functional rat immunoglobulin kappa chain genes: the J kappa gene cluster is longer in rat than in mouse. (wisc.edu)
  • Breiner AV, Brandt CR, Milcarek C, Sweet RW, Ziv E, Burstein Y, Schechter I. Somatic DNA rearrangement generates functional rat immunoglobulin kappa chain genes: the J kappa gene cluster is longer in rat than in mouse. (wisc.edu)
  • In three of four (VI, BR, and CH) clonal expansion of B cells was detected using probes specific for the c kappa, JH, c gamma 4 genes (in accordance with detecting IgG kappa cryoproteins in these patients). (aai.org)
  • The kappa immunoglobulin (Ig) genes from rat kidney and from rat myeloma cells were cloned and analyzed. (wisc.edu)
  • In the IR52 myeloma DNA two C kappa species are observed: one in the same configuration seen in kidney and one which has undergone a rearrangement. (wisc.edu)
  • the rearrangement site is within the J kappa cluster which we have mapped. (wisc.edu)
  • In the region between C kappa and the expressed J kappa of IR52 myeloma DNA, and XbaI site present in the embryonic kappa gene has been lost. (wisc.edu)
  • Southern blots of rat kidney DNA hybridized with different rat V kappa probes showed non-overlapping sets of bands which correspond to different subgroups, each composed of 8-10 closely related V kappa genes. (wisc.edu)
  • The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. (nih.gov)
  • It is reasonable to assume that this translocation corresponds to the consistent rearrangement of one or two genes in 12q13 and/or 16p11, and that the loci thus affected are important in the normal control of fat cell differentiation and proliferation. (lu.se)
  • Our understanding of plastid transcriptomes is limited to a few model plants whose plastid genomes (plastomes) have a highly conserved gene order. (biomedcentral.com)
  • Plastid genomes (plastomes) of land plants are highly conserved in their gene content and order. (biomedcentral.com)
  • In addition, these findings provide further support for models in which conflicts between different genes in genomes can drive the process of speciation. (elifesciences.org)
  • Even if they are considered to be intersexual, the abnormality may be induced by any one of at least seven different Minutes, or by other independent combinations of genes, and therefore cannot be used to support the view that there are very few loci involved in the determination of sex. (caltech.edu)
  • In these cases there is -- with the exception noted -- no evidence for gene interaction, either between allelomorphs or between genes at different loci. (caltech.edu)
  • Castle(1) has proposed an arrangement of linked genes in three dimensions, based on the assumption that the distance between any two loci is exactly proportional to the observed crossover value. (caltech.edu)
  • To characterize the types of by-products of somatic hypermutation, we analyzed aberrant rearrangements involving the immunoglobulin loci in a human B-cell line (Ramos) that performs Ig V gene hypermutation constitutively during culture. (lu.se)
  • As cross-lineage TCR gene rearrangements have been reported in immature B-cell malignancies, interpretation of this test requires clinical, morphologic, and immunophenotypic correlation. (ohsu.edu)
  • A rearrangement of the T gamma gene was never seen in a B cell sample. (jci.org)
  • The heterodimeric T-cell surface receptors, either alpha/beta (90% -95% of T cells) or gamma/delta (5% - 10% of T cells) are produced following somatic rearrangement of the T-cell receptor (TCR) genes (alpha, beta, delta, and gamma). (ohsu.edu)
  • Few other high-risk genes are known and current knowledge supports a polygenic model, a role of common low-risk variants that may interact in multiplicative fashion, but also of rare intermediate-risk gene variants. (lu.se)
  • Aberrant immunoglobulin and c-myc gene rearrangements in patients with nonmalignant monoclonal cryoglobulinemia. (aai.org)
  • The status of the immunoglobulin (Ig) genes was investigated in patients with idiopathic nonmalignant monoclonal IgG cryoglobulinemia (NCG). (aai.org)
  • A total of fifteen patients, with seemingly balanced de novo rearrangements by routine cytogenetic analysis but with phenotypic anomalies, were systematically analyzed. (nih.gov)
  • Molecular cytogenetic characterization of the 15 patients revealed nine with deletions, ranging in size from 0.8 to 15.3 Mb, with the number of genes lost ranging from 15 to 70. (nih.gov)
  • Our study suggests that the use of molecular cytogenetic techniques is a highly effective way of systematically delineating chromosomal breakpoints, and that the presence of deletions of varying size is an important cause of phenotypic abnormalities in patients with "balanced" de novo rearrangements. (nih.gov)
  • Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. (ox.ac.uk)
  • There were 17 (29%) cases bearing FOS gene rearrangements among 58 cases tested, including 12 male and 5 female patients, with a mean age of 42 years. (tmu.edu.tw)
  • In 7 of the 100 B cell specimens, a single nongermline band was detected after digestion with the restriction enzyme BamHI, but the rearrangement could be confirmed with a second restriction enzyme in only two. (jci.org)
  • This finding suggested the presence of additional nonsecretory B cell clones and/or disruption of the gene segments spanned by and detected with the probes. (aai.org)
  • This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
  • Cell growth is normally controlled by the actions of certain genes inside each cell. (cancer.org)
  • This happens where there are changes in genes that affect cell growth. (cancer.org)
  • The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. (nih.gov)
  • Gene Rearrangement" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • SVs associated with up-regulation of PD1 and PDL1 genes involve ~1% of non-amplified cases. (figshare.com)
  • All 12 ALHE cases lacked FOS gene abnormalities, suggesting different pathogenesis. (tmu.edu.tw)
  • CRISPR/Cas9 mediated knock-out of VPREB1 gene induces a cytotoxic effect in myeloma cells. (nih.gov)
  • For many genes, SVs are significantly associated with increased numbers or greater proximity of enhancer regulatory elements near the gene. (figshare.com)
  • The incidence of FOS rearrangement was significantly higher in bone (59%, P=0.006) and lower in head and neck (5%, P=0.009). (tmu.edu.tw)