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Fulcher Nick N Gregor Mendel Institute (GMI), Austrian Academy of - - 2014
Telomeres represent the repetitive sequences that cap chromosome ends and are essential for their protection. Telomere length is known to be highly heritable and is derived from a homeostatic balance between telomeric lengthening and shortening activities. Specific loci that form the genetic framework underlying telomere length homeostasis are, however, not ...
Tacconi Eliana M C EM Telomere and Genome Stability Group, The CRUK-MRC Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Old Road Campus Research Building, Oxford, OX3 7DQ, - - 2014
Telomeres protect the ends of linear chromosomes against loss of genetic information and inappropriate processing as damaged DNA and are therefore crucial to the maintenance of chromosome integrity. In addition to providing a pathway for genome-wide DNA repair, homologous recombination (HR) plays a key role in telomere replication and capping. ...
Nakashima Shinichi S Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, - - 2014
We report duplications of maternally derived chromosome 11p15 involving CDKN1C encoding a negative regulator for cell proliferation in three Japanese patients (cases 1 and 2 from family A and case 3 from family B) with Silver-Russell syndrome (SRS) phenotype lacking hemihypotrophy. Chromosome analysis showed 46,XX,der(16)t(11;16)(p15.3;q24.3)mat in case 1, 46,XY,der(16)t(11;16)(p15.3;q24.3)mat in ...
Lévy Jonathan J Service de Génétique et Embryologie médicales, AP-HP, Hôpital Armand Trousseau, Université Paris VI, Paris, France; Département de génétique, AP-HP, Hôpital Robert Debré, Université Paris VII, Paris, - - 2014
Mosaicism for an autosomal structural rearrangement that does not involve ring or marker chromosomes is rare. The mechanisms responsible for genome instability have not always been explained. Several studies have shown that interstitial telomeric sequences (ITSs), involved in some mosaic constitutional anomalies, are potent sources of genomic instability. Here we ...
Fairlie Jennifer J Wellcome Trust Centre for Cell Biology and Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Mayfield Road, EH9 3JR Edinburgh, - - 2014
More than 85% of all human cancers possess the ability to maintain chromosome ends, or telomeres, by virtue of telomerase activity. Loss of functional telomeres is incompatible with survival, and telomerase inhibition has been established in several model systems to be a tractable target for cancer therapy. As human tumour ...
Iarovaia Olga V - - 2014
Chromosomal translocations are a major cause of cancer. At the same time, the mechanisms that lead to specific chromosomal translocations that associate different gene regions remain largely unknown. Translocations are induced by double strand breaks (DSBs) in DNA. Here we review recent data on the mechanisms of generation, mobility and ...
Dumitriu Bogdan B Hematology Branch, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD, United States; - - 2014
The pathophysiology of severe aplastic anemia (SAA) is immune-mediated destruction of hematopoietic stem and progenitor cells (HSPC). Most patients respond to immunosuppressive therapies (IST), but a minority transform to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), frequently associated with monosomy 7 (-7). Thirteen SAA patients were analyzed for acquired ...
Xiang Youbin Y Stowers Institute for Medical Research, Kansas City, MO - - 2014
In the 1920s, József Gelei proposed that chromosome pairing in flatworms resulted from the formation of a telomere bouquet followed by the extension of synapsis from telomeres at the base of the bouquet, thus facilitating homolog pairing in a processive manner. A modern interpretation of Gelei's model postulates that the ...
Ciuladaite Zivile Z Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, - - 2014
Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome segments, including the regions distal ...
Yagi Kouhei K Department of Plant Genetics, Breeding and Biotechnology, Faculty of Horticulture, Biotechnology and Landscape Architecture, Warsaw University of Life Sciences - SGGW, Warsaw, - - 2014
Cucumis metuliferus (2n = 24) is a cultivated species of the Cucumis genus which is a potential genetic resource for Cucumis crops. Although some cytogenetic research has been reported, there is no study of karyotyping in this species. Here, we used 4',6-diamidino-2-phenylindole and chromomycin A3 staining to identify 12 pairs ...
Cazaux Benoîte B Institut des Sciences de l'Evolution, Université Montpellier 2, Montpellier, - - 2014
The house mouse, Mus musculus domesticus, shows extraordinary chromosomal diversity driven by fixation of Robertsonian (Rb) translocations. The high frequency of this rearrangement, which involves the centromeric regions, has been ascribed to the architecture of the satellite sequence (high quantity and homogeneity). This promotes centromere-related translocations through unequal recombination and ...
Misteli Tom T National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA - - 2014
The primary purpose of telomeres is to protect chromosome ends from erosion during cell division cycles. New observations suggest an additional function for telomeres, namely in gene silencing via formation of long-range chromatin interactions.
Robin Jérôme D JD Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, - - 2014
While global chromatin conformation studies are emerging, very little is known about the chromatin conformation of human telomeres. Most studies have focused on the role of telomeres as a tumor suppressor mechanism. Here we describe how telomere length regulates gene expression long before telomeres become short enough to produce a ...
Schutte Nicola S NS University of New England, Armidale, NSW, - - 2014
Telomeres protect the ends of chromosomes, and short telomere length is associated with poor health and mortality. This study reports a meta-analytic investigation of the relationship between perceived stress and telomere length, including results from eight studies with a total of 1143 participants. A meta-analytic effect size of r = -0.25, p 𰀼 0.001, ...
Biltueva Larisa L Institute of Molecular and Cellular Biology, SB RAS and Novosibirsk State University, Novosibirsk, - - 2014
This study reports on a unique balanced reciprocal chromosome translocation detected in a phenotypically normal cattle dam and her calf. CBG-, GTG-banding and FISH using bovine whole-chromosome and telomere probes were applied. The analyses showed that the breakpoints were located near to the centromere in chromosome 26 (q11) and exceptionally ...
Cipriano Roger Raupp RR Departamento de Fitotecnia e Fitossanitarismo, Setor de Ciências Agrárias, Universidade Federal do Paraná, Rua dos Funcionários, 1540, Curitiba, Paraná, CEP: 80035-050, Brazil, - - 2014
Cytogenetic studies have assisted in the taxonomic classification of organisms, especially those involving species with highly similar morphologic characteristics, or so-called cryptic species. Strongylura marina and Strongylura timucu collected from Paranaguá Bay, Paraná Coast in Southern Brazil are considered cryptic species, and the identification of interspecific variations based on the ...
Caradonna Fabio F Dipartimento di Scienze e Tecnologie Biologiche Chimiche e Farmaceutiche (STEBICEF), Sezione di Biologia Cellulare, Università di Palermo, V.le delle Scienze, Edificio 16, 90128 Palermo, Italy - - 2014
Ionising radiation, with the contribution of telomere shortening, induces DNA double-strand breaks that result in chromosome end fusion, nucleoplasmic bridges (NPBs) and chromosome aberrations (ChAbs) as well as dicentric chromosomes. In order to investigate the chromosomal damage induced by occupational ionising radiation at low exposure levels, and to find early ...
Mitchell Leslie A LA Department of Biochemistry and Molecular Pharmacology and Institute for Systems Genetics, New York University Langone School of Medicine, New York, NY - - 2014
Chromosome engineering is a major focus in the fields of systems biology, genetics, synthetic biology, and the functional analysis of genomes. Here, we describe the "telomerator," a new synthetic biology device for use in Saccharomyces cerevisiae. The telomerator is designed to inducibly convert circular DNA molecules into mitotically stable, linear ...
Churikov Dmitri D Marseille Cancer Research Center (CRCM), U1068 Inserm, UMR7258 CNRS, Aix Marseille University, Institut Paoli-Calmettes, LNCC (Equipe labellisée), Marseille, - - 2014
Telomerase-negative yeasts survive via one of the two Rad52-dependent recombination pathways, which have distinct genetic requirements. Although the telomere pattern of type I and type II survivors is well characterized, the mechanistic details of short telomere rearrangement into highly evolved pattern observed in survivors are still missing. Here, we analyze ...
Kaufer Benedikt B BB Institut für Virologie, Freie Universität Berlin, Berlin, - - 2014
HHV-6 integrates its genome into telomeres of human chromosomes. Integration can occur in somatic cells or gametes, the latter leading to individuals harboring the HHV-6 genome in every cell. This condition is transmitted to descendants and referred to as inherited chromosomally integrated human herpesvirus 6 (iciHHV-6). Although integration can occur ...
Schmid Michael M Department of Human Genetics, Biocenter, University of Würzburg, Würzburg, - - 2014
Mitotic and meiotic chromosomes of 5 species of the reptile genus Gonatodes are described by means of conventional staining, banding analyses and in situ hybridization using a synthetic telomeric DNA probe. The amount, location and fluorochrome affinities of constitutive heterochromatin, the number and positions of nucleolus organizer regions, and the ...
Zhang Qing-He QH National Laboratory of Solid State Microstructures and Department of Physics, Nanjing University, Nanjing 210093, - - 2014
Telomeres are specialized structures protecting chromosomes against genome instability. Telomeres shorten with cell division, and replicative senescence is induced when telomeres are badly eroded. Whereas TRF2, ATM and p53 have been identified involved in senescence induction, how it is triggered remains unclear. Here, we propose an integrated model associating telomere ...
Cranert Stacey S Department of Cancer Biology, University of Cincinnati, OH 45267, - - 2014
Tetrahymena telomeres are protected by a protein complex composed of Pot1, Tpt1, Pat1 and Pat2. Pot1 binds the 3' overhang and serves multiple roles in telomere maintenance. Here we describe Pot2, a paralog of Pot1, which has evolved a novel function during Tetrahymena sexual reproduction. Pot2 is unnecessary for telomere ...
Amiard Simon S Génétique, Reproduction et Développement, UMR CNRS 6293, Clermont Université, INSERM U1103, Aubière, France - - 2014
The telomeres of linear eukaryotic chromosomes are protected by caps consisting of evolutionarily conserved nucleoprotein complexes. Telomere dysfunction leads to recombination of chromosome ends and this can result in fusions which initiate chromosomal breakage-fusion-bridge cycles, causing genomic instability and potentially cell death or cancer. We hypothesize that in the absence ...
Sato-Carlton Aya A Institute for Integrated Cell-Material Sciences (iCeMS), Kyoto University, Kyoto, - - 2014
Prior to the meiotic divisions, dynamic chromosome reorganizations including pairing, synapsis, and recombination of maternal and paternal chromosome pairs must occur in a highly regulated fashion during meiotic prophase. How chromosomes identify each other's homology and exclusively pair and synapse with their homologous partners, while rejecting illegitimate synapsis with non-homologous ...
Cho Nam Woo NW Department of Cancer Biology, Perelman School of Medicine, University of Pennsylvania, 421 Curie Boulevard, Philadelphia, PA 19104-6160, - - 2014
Telomere length maintenance is a requisite feature of cellular immortalization and a hallmark of human cancer. While most human cancers express telomerase activity, ∼10%-15% employ a recombination-dependent telomere maintenance pathway known as alternative lengthening of telomeres (ALT) that is characterized by multitelomere clusters and associated promyelocytic leukemia protein bodies. Here, ...
Arnoult Nausica N The Salk Institute for Biological Studies, Molecular and Cell Biology Laboratory, 10010 North Torrey Pines Road, La Jolla, CA 92037, - - 2014
Telomere clustering is required for the homologous recombination events that maintain chromosome ends in cells relying on alternative lengthening of telomeres (ALT). New data demonstrate that damage signaling at telomeres, a likely step in activating maintenance mechanisms, induces directional movement and synapsis driven by the machinery responsible for recombination in ...
Mandrioli Mauro M Dipartimento di Scienze della Vita, Università di Modena e Reggio Emilia, Modena, - - 2014
Several studies demonstrated that chromosome anchoring to nuclear structures is involved in the organization of the interphase nucleus. The Rabl configuration, a well-studied chromosome organization in the interphase nucleus, has been deeply studied in organisms with monocentric chromosomes but just slightly touched in species with holocentric chromosomes. In the present ...
Azzalin Claus M CM Institute of Biochemistry, Eidgenössische Technische Hochschule Zürich (ETHZ), 8093 Zürich, Switzerland. Electronic address: - - 2014
Long noncoding telomeric repeat-containing RNAs - TERRAs - are transcribed in a regulated manner from telomeres throughout eukaryotes. TERRA molecules consist of chromosome end-specific subtelomeric sequences and telomeric repeats at their 3' ends. Recent work suggests that TERRA sustains several important functions at chromosome ends. TERRA can regulate telomere length ...
Doksani Ylli Y Laboratory for Cell Biology and Genetics, Rockefeller University, New York, New York - - 2014
Telomeres have evolved to protect the ends of linear chromosomes from the myriad of threats posed by the cellular DNA damage signaling and repair pathways. Mammalian telomeres have to block nonhomologous end joining (NHEJ), thus preventing chromosome fusions; they need to control homologous recombination (HR), which could change telomere lengths; ...
Chen Jun-Yu JY State Key Laboratory of Rice Biology and Chinese National Center for Rice Improvement, China National Rice Research Institute, Hangzhou, 310006, - - 2014
A minor QTL for heading date located on the long arm of rice chromosome 1 was delimitated to a 95.0-kb region using near isogenic lines with sequential segregating regions. Heading date and grain yield are two key factors determining the commercial potential of a rice variety. In this study, rice ...
Poggio M G MG Instituto de Ecología, Genética y Evolución de Buenos Aires (IEGEBA), Departamento de Ecología, Genética y Evolución (EGE), Facultad de Ciencias Exactas y Naturales (FCEyN),Universidad de Buenos Aires (UBA),Ciudad Autónoma de Buenos - - 2014
Members of the family Cimicidae (Heteroptera: Cimicomorpha) are temporary bloodsuckers on birds and bats as primary hosts and humans as secondary hosts. Acanthocrios furnarii (2n=12=10+XY, male) and Psitticimex uritui (2n=31=28+X1X2Y, male) are two monotypic genera of the subfamily Haematosiphoninae, which have achiasmatic male meiosis of collochore type. Here, we examined ...
Labib Hany A HA Clinical Pathology Department, Faculty of Medicine, Zagazig University, 9 Taleat Harb Street, Zagazig, 44155, Egypt, - - 2014
Addition of telomeres to the ends of broken chromosomes has been observed in many malignant cells through the capture of the ends of other chromosomes as a result of nonreciprocal translocations. In this study, we aimed to evaluate the percentage of nuclei with telomere capture (TC%) as a prognostic marker ...
Afreixo Vera V Department of Mathematics, University of Aveiro, 3810-193 Aveiro, PortugalCIDMA, University of Aveiro, 3810-193 Aveiro, PortugalIEETA, University of Aveiro, 3810-193 Aveiro, Portugal - - 2014
Some previous studies suggest the extension of Chargaff's second rule (the phenomenon of symmetry in a single DNA strand) to long DNA words. However, in random sequences generated under an independent symbol model where complementary nucleotides have equal occurrence probabilities, we expect the phenomenon of symmetry to hold for any ...
Qin Qinbo - - 2014
BackgroundAllopolyploids generally undergo bivalent pairing at meiosis because only homologous chromosomes pair up. On the other hand, several studies have documented abnormal chromosome behavior during mitosis and meiosis in allopolyploids plants leading to the production of gametes with complete paternal or maternal chromosomes. Polyploidy is relatively rare in animals compared ...
Tůmová Pavla P Department of Tropical Medicine, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic, - - 2014
During mitotic prophase, chromosomes of the pathogenic unicellular eukaryote Giardia intestinalis condense in each of the cell's two nuclei. In this study, Giardia chromosomes were investigated using light microscopy, high-resolution field emission scanning electron microscopy, and in situ hybridization. For the first time, we describe the overall morphology, condensation stages, ...
Emadzade Khatere K Department of Botany and Biodiversity Research, University of Vienna, Rennweg 14, A-1030 Vienna, - - 2014
Chromosomal evolution, including numerical and structural changes, is a major force in plant diversification and speciation. This study addresses genomic changes associated with the extensive chromosomal variation of the Mediterranean Prospero autumnale complex (Hyacinthaceae), which includes four diploid cytotypes each with a unique combination of chromosome number (x = 5, ...
Terai Masanori M Research Team for Geriatric Pathology, Tokyo Metropolitan Institute of Gerontology, Tokyo 173-0015, Japan; Department of Judotherapy, Faculty of Health Sciences, Tokyo Ariake University of Medical and Health Sciences, Tokyo 135-0063, Japan. Electronic address: - - 2014
We have reported that telomere fluorescence units (TFUs) of established induced pluripotent stem cells (iPSCs) derived from human amnion (hAM933) and fetal lung fibroblasts (MRC-5) were significantly longer than those of the parental cells, and that the telomere extension rates varied quite significantly among clones without chromosomal instability, although the ...
Rocha Laiane Corsini LC Department of Biology, Federal University of Lavras, P.O. Box 3037, 37200-000, Lavras, Minas Gerais State, - - 2014
Lolium perenne is considered a high-quality forage widely used in temperate regions to meet the shortage of forage during the winter. In this species, some peculiarities related to cytogenetic aspects have already been described, as the variability in number and position of 45S ribosomal DNA (rDNA) sites and the expression ...
Park Gab Man GM Department of Environmental Medical Biology, Kwandong University College of Medicine, Gangneung 210-701, - - 2014
The karyotypes of Biomphalaria tenagophila collected from Rio de Janeiro, Brazil were studied using the air-drying method. Somatic cells of this species had 2n=36. The 18 chromosome pairs were identified and classified into 3 groups. The diploid cell has 7 pairs of metacentric, 8 pairs of submetacentric, and 3 pairs ...
Yano Cassia Fernanda CF Departamento de Genética e Evolução, Universidade Federal de São Carlos, Rodovia Washington Luís (SP 310) Km 235, São Carlos, SP, - - 2014
Studies have demonstrated the effective participation of repetitive DNA sequences in the origin and differentiation of the sex chromosomes in some biological groups. In this study several microsatellites and retrotranposable sequences were cytogenetically mapped in the Erythrinus erythrinus (Bloch & Schneider, 1801) male genome (karyomorph C), focusing on the distribution ...
Adilardi Renzo Sebastián RS Laboratorio de Citogenética y Evolución - Departamento de Ecología, Genética y Evolución, IEGEBA (CONICET-UBA), Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires - Intendente Güiraldes 2160 - C1428EGA CABA, - - 2014
Tityus trivittatus Kraepelin, 1898 is the most medically important scorpion species of Argentina, and parthenogenetic populations are present in the major cities of this country. We performed a detailed cytogenetic analysis of specimens of three synanthropic parthenogenetic populations, all distant about 900 km from each other, using Ag-NOR, C-banding, DAPI/CMA3 ...
Affonso Paulo Roberto Antunes de Mello PR Departamento de Ciências Biológicas, Universidade Estadual do Sudoeste da Bahia, 45206-150 Jequié, BA, - - 2014
Surgeonfishes are a species-rich group and a major biomass on coral reefs. Three species are commonly found throughout South Atlantic, Acanthurus bahianus, A. chirurgus, and A. coeruleus. In this paper, we present the first cytogenetic data of these species, revealing a sequential chromosomal diversification. A. coeruleus was characterized by a ...
de Silanes Isabel López IL Telomeres and Telomerase Group, Spanish National Cancer Research Centre (CNIO), C/Melchor Fernández Almagro, 3, 28029 Madrid, - - 2014
Telomeric RNAs (TERRAs) are UUAGGG repeat-containing RNAs that are transcribed from the subtelomere towards the telomere. The precise genomic origin of TERRA has remained elusive. Using a whole-genome RNA-sequencing approach, we identify novel mouse transcripts arising mainly from the subtelomere of chromosome 18, and to a lesser extend chromosome 9, ...
Subramanian Vijayalakshmi V VV Department of Biology, New York University, New York, New York - - 2014
The generation of haploid gametes by meiosis is a highly conserved process for sexually reproducing organisms that, in almost all cases, involves the extensive breakage of chromosomes. These chromosome breaks occur during meiotic prophase and are essential for meiotic recombination as well as the subsequent segregation of homologous chromosomes. However, ...
Calderón María Del Carmen Mdel C Plant Breeding Department, Institute for Sustainable Agriculture, Agencia Estatal Consejo Superior de Investigaciones Científicas (CSIC), Apartado 4084, E-14080 Córdoba, - - 2014
The process of meiosis results in the formation of haploid daughter cells, each of which inherit a half of the diploid parental cells' genetic material. The ordered association of homologues (identical chromosomes) is a critical prerequisite for a successful outcome of meiosis. Homologue recognition and pairing are initiated at the ...
Religa Agnieszka A AA Wellcome Trust Centre for Molecular Parasitology, Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, United - - 2014
Telomeres define the ends of chromosomes protecting eukaryotic cells from chromosome instability and eventual cell death. The complex regulation of telomeres involves various proteins including telomerase, which is a specialized ribonucleoprotein responsible for telomere maintenance. Telomeres of chromosomes of malaria parasites are kept at a constant length during blood stage ...
Jun Kyung Ran KR Department of Laboratory Medicine, Inje University Haeundae Paik Hospital, Busan, South - - 2014
Copy number variations at 2p11.2 have been rare and to our knowledge, no abnormal phenotype with an interstitial 2p11.2 duplication has yet been reported. Here we report the first case with syndromic intellectual disability associated with microduplication at 2p11.2. We revisited a white female subject with a chromosome translocation, t(8;10)(p23;q23)mat ...
Gemi Gisele G Centro de Ciências Biológicas e da Saúde, Universidade Estadual do Oeste do Paraná, Rua Universitária 2069, CEP: 85819-110, Cascavel, PR, - - 2014
Erythrinidae include Neotropical teleost fish that are widely distributed in South America. Hoplias Gill, 1903 include two large groups: H. malabaricus Bloch, 1794 and H. lacerdae Miranda Ribeiro, 1908. Hoplias malabaricus is characterized by remarkable karyotype diversity, with some karyomorphs widely distributed geographically while others are more restricted to certain ...
Cristiano Maykon Passos MP Departamento de Biodiversidade, Evolução e Meio Ambiente, Universidade Federal de Ouro Preto, Morro do Cruzeiro, Ouro Preto, Minas Gerais, Brazil, 35400-000 ; Departamento de Biologia Geral, Universidade Federal de Viçosa, Avenida Peter Henry Rolfs s/n, Viçosa, Minas Gerais, Brazil, - - 2014
To date, more than 65 species of Brazilian bees (of the superfamily Apoidea) have been cytogenetically studied, but only a few solitary species have been analyzed. One example is the genus Melitoma Lepeletier & Serville, 1828, for which there is no report in the literature with regard to cytogenetic studies. ...
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