Describing geneticAberrationsGenesSegregationMetaphase chromosomesAbnormalitiesGenomeGeneConformation CaptureBiologyAbnormal chromosomeKaryotypeTelomeresProteinsDeletionsChromatinHomologousAbnormalityAlterationsTrisomySMC1AInactivationUnstableFunctionalChromatidsNumericalOrganizationInterphaseDisordersAssembliesBiochemicalArrangementPhiladelphiaMaintenanceCompoundsCell divisionPopulationsChromosomalAnalysisHumanAnalogueStructureCellsExamineSyndromeBasis
Describing genetic1
- It was concluded that gross chromosome numbers were of little or no value in describing genetic variability at the chromosomal level of organization in this culture. (elsevierpure.com)
Aberrations6
- These results strongly suggest that NS is mainly caused by structural aberrations in the nucleus during interphase of the cell cycle. (biomedcentral.com)
- Ring chromosomes are structural aberrations commonly associated with birth defects, mental disabilities and growth retardation. (ca.gov)
- Owing to the severity of these large aberrations that can affect multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have been proposed. (ca.gov)
- Our results suggest a fundamentally different function for cellular reprogramming as a means of 'chromosome therapy' to reverse combined loss-of-function across many genes in cells with large-scale aberrations involving ring structures. (ca.gov)
- Clonal acquired chromosome aberrations were found in 13 patients and a constitutional trisomy 18 as the sole change in 1. (lu.se)
- Most high-grade cancers harbor mutations in the TP53 gene together with a massive amount of other mutations and chromosome aberrations. (lu.se)
Genes5
- Chromosomes contain thousands of genes that are stored in DNA, the basic genetic material. (medlineplus.gov)
- The proteins made from these genes make a complex called cohesion that helps to regulate the organization and maintenance of chromosomes during cellular division. (brighthub.com)
- Lighter bands on chromosomes called euchromatin where genes are expressed. (mindmeister.com)
- In D. melanogaster , the eight Hox genes are organized in two separate clusters on chromosome 3R: the Antennapedia cluster (ANT-C) and the Bithorax cluster (BX-C). The 350 kb BX-C contains the Ubx, abd-A and Abd-B genes, which specify the identity of the more posterior embryonic parasegments 5 to 14 (PS5 to PS14). (biorxiv.org)
- Ten PmCCD genes were concentrated on three chromosomes. (bvsalud.org)
Segregation5
- SMC5/6 is required for replication fork stability and faithful chromosome segregation during neurogenesis. (nih.gov)
- Protein phosphatases PP2A(B55) and PP2A(B56), and the Chromosomal Passenger Complex -CPC, containing Aurora B kinase-, establish a signalling network that controls sister chromatid cohesion, kinetochore-microtubule attachments, and timely chromosome segregation. (ed.ac.uk)
- Our ongoing work hints that this specificity is mediated by dynamic interactions between Sgo1 and the B56 subunits, and aims to decipher the functional contribution of these interactions in achieving faithful chromosome segregation My work also unveils a novel interaction between PP2A(B56) and the CPC. (ed.ac.uk)
- Specifically, the DNA-binding protein CdbA binds c-di-GMP, is essential for viability, and important for chromosome organization and segregation in Myxococcus xanthus. (uni-marburg.de)
- In total, our data support that increased CdbS accumulation caused by either CdbA depletion or high temperature stress, by an unknown mechanism, results in chromosome segregation and organization defects, thereby causing cell division inhibition and cell death. (uni-marburg.de)
Metaphase chromosomes1
- and fluorescent in, situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. (lu.se)
Abnormalities5
- Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
- Chromosome abnormalities may cause about half of recurrent miscarriages. (msdmanuals.com)
- Miscarriages due to chromosome abnormalities are more common during early pregnancy. (msdmanuals.com)
- Ring X and other structural X chromosome abnormalities: X inactivation and phenotype. (bvsalud.org)
- We present here the clinical findings and a fine mapping of the associated structural chromosome abnormalities. (lu.se)
Genome7
- A chromosome-based draft sequence of the hexaploid bread wheat ( Triticum aestivum ) genome. (genomeweb.com)
- Nearly 10 percent of the genome, including highly repetitive sequences at the ends (telomeres) and middles (centromeres) of chromosomes, remained inaccessible. (jax.org)
- These areas are approached by investigations that span from structural characterization of single molecules, macromolecular interactions and supramolecular assemblies, over mapping of molecular pathways in different model organisms, to whole genome sequencing of human pathogens. (ki.se)
- For each organism, we have high quality chromosome-level genome assemblies, and transcript-based structural annotations. (berkeley.edu)
- This study identified PpDAM6 (DORMANCY-ASSOCIATED MADS-box) as a key gene for CR using a genome-wide association study analysis based on structural variations in 345 peach (Prunus persica (L.) Batsch) accessions. (bvsalud.org)
- A detailed mapping of the chromosome abnormality using whole genome array based comparative genomic hybridization (CGH) of the patient DNA revealed a duplication 16q12.1-q22.1 corresponding to gain of 19.8 Mb of DNA without any detectable loss of genetic material on chromosome 11. (lu.se)
- My research covers a variety of questions, all related to sex-specific selection, the evolution of recombination suppression between sex chromosomes, genome structural evolution, and evolutionary demography of partially selfing populations. (lu.se)
Gene8
- X chromosome inactivation (XCI) is the phenomenon that has been selected during the evolution to balance X-linked gene dosage between XX females and XY males. (wikipedia.org)
- These assays can detect mutations in the Tk gene that result from both gene mutations and chromosome damage. (biomedcentral.com)
- They are developing atomic-level models that explain how chemical energy is transduced into force and motion, and how dynamic assemblies control DNA replication, gene expression, chromosome superstructure, and other essential nucleic-acid transactions. (hopkinsmedicine.org)
- Each chromosome consists of a single very long DNA molecule, and each gene on the chromosome is a particular segment of that DNA. (perkins.org)
- Individuals have two of each chromosome and hence two alleles of each gene, one acquired from each parent. (perkins.org)
- The same subfamily possessed similar gene structural patterns and numbers of conserved motifs. (bvsalud.org)
- The NKX2-5 gene on chromosome 5q34 consists of two exons which encode a 324 amino acid protein. (cdc.gov)
- The majority of osteosarcomas harbour mutations in the TP53 gene, either point mutations or structural variations that separate the promoter region from the coding parts of TP53. (lu.se)
Conformation Capture2
- Chromosome Conformation Capture with Deep Sequencing to Study the Roles of the Structural Maintenance of Chromosomes Complex In Vivo. (jic.ac.uk)
- Models were built as a plectonemically supercoiled circular DNA and by incorporating chromosome conformation capture based data to generate an ensemble of base pair resolution models consistent with the experimental data. (msu.edu)
Biology4
- Combining biochemistry, structural biology and biophysics, my work sheds light into the mechanistic basis of how PP2A regulates these key mitotic events through its interaction with Shugoshin1, the Chromosomal Passenger Complex and the Ska complex. (ed.ac.uk)
- He is the director of the Institute for Basic Biomedical Sciences, professor of biophysics and biophysical chemistry at the Johns Hopkins University School of Medicine and co-director of the Cancer Chemical and Structural Biology Program for the Johns Hopkins Kimmel Cancer Center. (hopkinsmedicine.org)
- Nature Structural & Molecular Biology 2018, 25 (7), 557-569. (ncl.ac.uk)
- As students of biology are learning about the structure of the chromosome, present this model in addition to any raised lines that the text provides. (perkins.org)
Abnormal chromosome2
- Karyotype tests should be repeated to confirm that an abnormal chromosome problem is actually in the body of the person. (medlineplus.gov)
- Here we generated human induced pluripotent stem cells (iPSCs) from patient fibroblasts containing ring chromosomes with large deletions and found that reprogrammed cells lost the abnormal chromosome and duplicated the wild-type homologue through the compensatory uniparental disomy (UPD) mechanism. (ca.gov)
Karyotype2
- A technique developed to quantify and qualify actual loss or gain or both of chromosomes was used to determine that 67.5% of the cells were aneuploid, whereas all 40 cells exhibited clear karyotypic changes from the native karyotype. (elsevierpure.com)
- An abnormal karyotype was identified involving the long arm of chromosome 11. (lu.se)
Telomeres3
- Telomeres are the protective caps of our chromosomes and play a central role in the ageing process. (mpg.de)
- Telomeres are protective caps at the ends of chromosomes that become shorter with each cell division. (mpg.de)
- If the telomeres changed in length, this was associated with structural changes in the brain. (mpg.de)
Proteins1
- SCOPe: Structural Classification of Proteins - extended. (berkeley.edu)
Deletions1
- Rings form after fusion of the long and short arms of a chromosome, and are sometimes associated with large terminal deletions. (ca.gov)
Chromatin1
- Scaffold/matrix attachment regions (S/MARs) are DNA elements that serve to compartmentalize the chromatin into structural and functional domains. (researchgate.net)
Homologous2
- This model can be used in 2 colors for low vision students to indicate homologous chromosomes. (perkins.org)
- Individuals receive one homologous chromosome from each parent. (perkins.org)
Abnormality1
- We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q 12.1 -q22.1. (lu.se)
Alterations2
- An average of 1.35 chromosomes per cell in these karyotypes exhibited distinct structural alterations. (elsevierpure.com)
- The most recurrent numerical alterations were gains in rat chromosome 4 (RNO4) and losses in RNO15. (biomedcentral.com)
Trisomy2
- Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)
- May have trisomy of other chromosomes, eg. (mindmeister.com)
SMC1A1
- Another function of delangin is to help the splitting of chromosomes during cellular division, much like SMC1A and SMC3 . (brighthub.com)
Inactivation1
- During the establishment phase of X Chromosome Inactivation (XCI), Xist RNA, the master regulator of this process, is monoallelically upregulated and it spreads in cis along the future inactive X (Xi), relocates to the nuclear periphery. (wikipedia.org)
Unstable1
- During cell division, ring chromosomes can exhibit unstable behaviour leading to continuous production of aneuploid progeny with low viability and high cellular death rate. (ca.gov)
Functional2
- Nevertheless, the structural and functional basis of this isoform specificity and how it affects Sgo1 function remain unclear. (ed.ac.uk)
- Structural and functional partitioning of bread wheat chromosome 3B. (genomeweb.com)
Chromatids3
- When cells divide, they replicate their DNA in each chromosome into two structures called sister chromatids. (brighthub.com)
- Chromosomes appear only immediately prior to cell division and are made up of 2 exact copies of genetic material (chromatids). (perkins.org)
- The chromosome is composed of two identical chromatids attached at the centromere. (perkins.org)
Numerical2
- Analysis of 21 experimental ECs revealed specific nonrandom numerical and structural chromosomal changes. (biomedcentral.com)
- Numerical changes occurred in 16 patients and breakpoint of chromosome 1 in 6 patients. (lu.se)
Organization1
- Unexpectedly, we recently reported a link between c-di-GMP and chromosome organization. (uni-marburg.de)
Interphase1
- L'hybridation fluorescente in situ (FISH) est une technique qui permet des séquences d'ADN spécifiques à détecter sur les chromosomes en métaphase ou en interphase en 1 noyaux des cellules. (jove.com)
Disorders1
- Chromosome disorders in a male partner may also cause recurrent miscarriages. (msdmanuals.com)
Assemblies1
- His research focuses on how multi-subunit assemblies use adenosine triphosphate (ATP) for transferring energy within the chromosome and controlling the flow of genetic information. (hopkinsmedicine.org)
Biochemical1
- The approach relies on a blend of structural, biochemical, and biophysical methods to define the architecture, function, evolution, and regulation of protein/nucleic acid complexes. (hopkinsmedicine.org)
Arrangement2
- The stained sample is photographed to show the arrangement of the chromosomes. (medlineplus.gov)
- Certain problems can be identified through the number or arrangement of the chromosomes. (medlineplus.gov)
Philadelphia1
- The bone marrow or blood test can be done to identify the Philadelphia chromosome, which is found in 85% of people with chronic myelogenous leukemia (CML) . (medlineplus.gov)
Maintenance1
- Orthologous to human SMC5 (structural maintenance of chromosomes 5). (nih.gov)
Compounds3
- Thus, we measured NS for 14 compounds (clastogens) that are known to induce structural CAs, 4 aneugens, and 12 non-mutagenes. (biomedcentral.com)
- NS measurements were carried out using compounds known to induce structural CAs in the mouse lymphoma L5178Y cell line. (biomedcentral.com)
- A structure-activity relationship study of 38 compounds in this structural family yielded highly potent (IC(50) 1M) Eis inhibitors, which did not inhibit other acetyltransferases. (cdc.gov)
Cell division1
- This model will be also be useful in describing the movement of chromosomes during cell division. (perkins.org)
Populations1
- The karyotypically normal iPSCs with isodisomy for the corrected chromosome outgrew co-existing aneuploid populations, enabling rapid and efficient isolation of patient-derived iPSCs devoid of the original chromosomal aberration. (ca.gov)
Chromosomal3
- Extensive karyotypic analyses of cultured celery cells were performed to assess variability with respect to the loss or gain of specific chromosome structural types and the nature and extent of chromosomal rearrangements. (elsevierpure.com)
- The most commonly structural changes were mainly in form of chromosomal translocations and were detected in RNO3, RNO6, RNO10, RNO11, RNO12, and RNO20. (biomedcentral.com)
- Unbalanced chromosomal translocations involving RNO3p was the most commonly observed structural changes in this material followed by RNO11p and RNO10 translocations. (biomedcentral.com)
Analysis4
- Structural analysis of this complex shows that Borealin - one of the components of the CPC - contains a short linear motif that binds PP2A(B56) via the LxxIxE-binding pocket of B56. (ed.ac.uk)
- Structural analysis of Arabidopsis thaliana chromosome 5. (antibodies-online.com)
- Parental consanguinity documenting pedigree analyzing, chromosome analysis and clinical examination were carried out for all cases. (who.int)
- The clinical diagnosis is confirmed health centres and 320 primary health was confirmed by chromosome analy- by chromosome analysis ( 3 ). (who.int)
Human1
- Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells. (ca.gov)
Analogue1
- Therefore, read-across from the structural analogue substance sodium dodecyl sulfate (CAS 151-21-3) has been applied. (europa.eu)
Structure1
- The simplest use for this model is in describing the structure of the chromosome. (perkins.org)
Cells2
- Orton, T. J. / Chromosome structural changes in cultured celery cells . (elsevierpure.com)
- Karyotyping is a test to examine chromosomes in a sample of cells. (medlineplus.gov)
Examine2
- En règle générale, un test FISH unique examine seulement un ou quelques chromosomes entiersou des loci spécifiques par diapositive, etc hybridations multiples doivent être menées sur plusieurs diapositives pour couvrir l'ensemble des chromosomes humains. (jove.com)
- The laboratory specialist uses a microscope to examine the size, shape, and number of chromosomes in the cell sample. (medlineplus.gov)
Syndrome1
Basis1
- 2 - 4 Because of its critical role in cardiogenesis, NKX2-5 has been a prime candidate in studies to identify the genetic basis of structural congenital heart defects. (cdc.gov)