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Mrasek Kristin K Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Kollegiengasse 10, Jena, D-07743, - - 2015
Genomic instability tends to occur at specific genomic regions known as common fragile sites (FS). FS are evolutionarily conserved and generally involve late replicating regions with AT-rich sequences. The possible correlation between some FS and cancer-related breakpoints emphasizes on the importance of understanding the mechanisms of chromosomal instability at these ...
Weise Anja A Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Kollegiengasse 10, 07743, Jena, - - 2015
Copy number variations (CNVs) are structural variations of the human genome. These alterations result in variant copy numbers of certain stretches of DNA. In other words, some regions may be present in more or less copies than in a reference genome; however, these copy number changes do not have any ...
Dziewit Lukasz L Department of Bacterial Genetics, Institute of Microbiology, University of Warsaw, Miecznikowa 1, 02-096, Warsaw, Poland, - - 2015
Bacterial genomic information can be divided between various replicons, including chromosomes, plasmids, and chromids (essential plasmid-like replicons with properties of both chromosomes and plasmids). Comparative analyses of bacterial plasmids, including homology searches, phylogenetic and phylogenomic analyses, as well as network construction for the characterization of their relationships, are good starting ...
Pope Benjamin D BD Department of Biological Science, 319 Stadium Drive, Florida State University, Tallahassee, Florida 32306, - - 2014
Eukaryotic chromosomes replicate in a temporal order known as the replication-timing program. In mammals, replication timing is cell-type-specific with at least half the genome switching replication timing during development, primarily in units of 400-800 kilobases ('replication domains'), whose positions are preserved in different cell types, conserved between species, and appear ...
Thillainathan Sharmila S Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri - - 2014
Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders ...
Westhorpe Frederick G FG Department of Biochemistry, Stanford University Medical School, Stanford, California - - 2014
A fundamental challenge for the survival of all organisms is maintaining the integrity of the genome in all cells. Cells must therefore segregate their replicated genome equally during each cell division. Eukaryotic organisms package their genome into a number of physically distinct chromosomes, which replicate during S phase and condense ...
Donczew Rafał R Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Department of Microbiology, Weigla 12, 53-114 Wrocław, - - 2014
The replication of a bacterial chromosome is initiated by the DnaA protein, which binds to the specific chromosomal region oriC and unwinds duplex DNA within the DNA-unwinding element (DUE). The initiation is tightly regulated by many factors, which control either DnaA or oriC activity and ensure that the chromosome is ...
Gilliland William D WD DePaul University; - - 2014
The abundance and composition of heterochromatin changes rapidly between species and contributes to hybrid incompatibility and reproductive isolation. Heterochromatin differences may also destabilize chromosome segregation and cause meiotic drive, the non-Mendelian segregation of homologous chromosomes. Here we use a range of genetic and cytological assays to examine the meiotic properties ...
Grabowska-Joachimiak Aleksandra A Department of Plant Breeding and Seed Science, University of Agriculture in Cracow, Łobzowska 24, 31-140, Cracow, Poland, - - 2014
Rumex hastatulus is the North American endemic dioecious plant with heteromorphic sex chromosomes. It is differentiated into two chromosomal races: Texas (T) race characterised by a simple XX/XY sex chromosome system and North Carolina (NC) race with a polymorphic XX/XY1Y2 sex chromosome system. The gross karyotype morphology in NC race ...
Molina Wagner F WF Departamento de Biologia Celular e Genética, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, - - 2014
Mechanisms of accumulation based on typical centromeric drive or of chromosomes carrying pericentric inversions are adjusted to the general karyotype differentiation in the principal Actinopterygii orders. Here, we show that meiotic drive in fish is also supported by preferential establishment of sex chromosome systems and B chromosomes in orders with ...
Neuendorff Nina Rosa NR Department of Hematology, Oncology and Tumor Immunology, Charité-University Medicine Berlin, Berlin, - - 2014
The presence of a Philadelphia chromosome with a corresponding BCR-ABL1 rearrangement is the hallmark of chronic myeloid leukemia, but is considered a very rare event in de novo acute myeloid leukemia (AML). Here, we report the first case in which a dominant Philadelphia chromosome-positive subclone was detected upon relapse in ...
Zhang Liangran L Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA - - 2014
Biological systems exhibit complex patterns at length scales ranging from the molecular to the organismic. Along chromosomes, events often occur stochastically at different positions in different nuclei but nonetheless tend to be relatively evenly spaced. Examples include replication origin firings, formation of chromatin loops along chromosome axes and, during meiosis, ...
Lourenço Nelson - - 2014
A KIT gain of function mutation is present in 70% of gastrointestinal stromal tumors (GISTs) and the wild-type (WT) allele is deleted in 5 to 15% of these cases. The WT KIT is probably deleted during GIST progression. We aimed to identify the mechanism of WT KIT loss and to ...
Chester M M Department of Biology, University of Florida, Gainesville, FL, - - 2014
Cytological studies have shown many newly formed allopolyploids (neoallopolyploids) exhibit chromosomal variation as a result of meiotic irregularities, but few naturally occurring neoallopolyploids have been examined. Little is known about how long chromosomal variation may persist and how it might influence the establishment and evolution of allopolyploids in nature. In ...
Mensah Martin A MA KU Leuven, Department of Human Genetics, Leuven, Belgium; Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, - - 2014
The human sex chromosomes differ in sequence, except for the pseudoautosomal regions (PAR) at the terminus of the short and the long arms, denoted as PAR1 and PAR2. The boundary between PAR1 and the unique X and Y sequences was established during the divergence of the great apes. During a ...
Messerschmidt Sonja J SJ LOEWE Center for Synthetic Microbiology, SYNMIKRO, Philipps-Universität Marburg, - - 2014
Recent developments in DNA-assembly methods make the synthesis of synthetic chromosomes a reachable goal. However, the redesign of primary chromosomes bears high risks and still requires enormous resources. An alternative approach is the addition of synthetic chromosomes to the cell. The natural secondary chromosome of Vibrio cholerae could potentially serve ...
Basile Giorgia G Section of Molecular Epidemiology, Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena, 299-00161 Rome, Italy Genome Stability Group, Istituto Superiore di Sanità, Viale Regina Elena, 299-00161 Rome, - - 2014
Werner syndrome (WS) is a human chromosomal instability disorder associated with cancer predisposition and caused by mutations in the WRN gene. WRN helicase activity is crucial in limiting breakage at common fragile sites (CFS), which are the preferential targets of genome instability in precancerous lesions. However, the precise function of ...
Mera Paola E PE Department of Developmental Biology, Beckman Center, Stanford University School of Medicine, Palo Alto, CA - - 2014
During cell division, multiple processes are highly coordinated to faithfully generate genetically equivalent daughter cells. In bacteria, the mechanisms that underlie the coordination of chromosome replication and segregation are poorly understood. Here, we report that the conserved replication initiator, DnaA, can mediate chromosome segregation independent of replication initiation. It does ...
Maric Marija M MRC Protein Phosphorylation and Ubiquitylation Unit, Sir James Black Centre, College of Life Sciences, University of Dundee, Dow Street, Dundee DD1 5EH, UK. Cancer Research UK Manchester Institute, University of Manchester, Wilmslow Road, Manchester M20 4BX, - - 2014
Chromosome replication is initiated by a universal mechanism in eukaryotic cells, involving the assembly and activation at replication origins of the CMG (Cdc45-MCM-GINS) DNA helicase, which is essential for the progression of replication forks. Disassembly of CMG is likely to be a key regulated step at the end of chromosome ...
Castronovo Chiara C Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, - - 2014
Interstitial triplications of 15q11-q13, leading to tetrasomy of the involved region, are very rare, with only 11 cases reported to date. Their pathogenicity is independent of the parental origin of the rearranged chromosome. The associated phenotype resembles, but is less severe, than that of patients bearing inv dup(15) marker chromosomes. ...
Chen T T 1] Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA [2] Department of Endoscopy Center, Zhongshan Hospital, Fudan University, Shanghai, - - 2014
Genome instability is a hallmark of cancer cells. Chromosome instability (CIN), which is often mutually exclusive from hypermutation genotypes, represents a distinct subtype of genome instability. Hypermutations in cancer cells are due to defects in DNA repair genes, but the cause of CIN is still elusive. However, because of the ...
Fukagawa Tatsuo T Department of Molecular Genetics, National Institute of Genetics and Graduate University for Advanced Studies (SOKENDAI), Mishima, Shizuoka 411-8540, Japan. Electronic address: - - 2014
Neocentromeres are formed at new positions on a chromosome, and offer unique opportunities to study the regulation of centromere formation.
Wu Zhenfang Z State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, 100101, China; 2University of Chinese Academy of Sciences, Beijing, China State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, 100101, China; 2University of Chinese Academy of Sciences, Beijing, - - 2014
Haloarchaeal genomes are generally composed of multiple replicons, and each replicon has a single or multiple replication origin(s). The comparative genomic analysis of replication origins from closely related species can be used to reveal the evolutionary mechanisms that account for the development of multiple origin systems. Multiple replication origins have ...
Becker Jürgen C JC Division of General Dermatology, Medical University of Graz, Graz, - - 2014
Adult skin stem cells do not protect their genome by asymmetric chromosome segregation; thus, they are prone to accumulating oncogenic mutations.
Jeppsson Kristian K Karolinska Institutet, Department of Cell and Molecular Biology, Stockholm, - - 2014
The cohesin complex, which is essential for sister chromatid cohesion and chromosome segregation, also inhibits resolution of sister chromatid intertwinings (SCIs) by the topoisomerase Top2. The cohesin-related Smc5/6 complex (Smc5/6) instead accumulates on chromosomes after Top2 inactivation, known to lead to a buildup of unresolved SCIs. This suggests that cohesin ...
Mengoli Valentina V Istituto Pasteur-Fondazione Cenci Bolognetti and Istituto di Biologia e Patologia Molecolari (IBPM) del CNR, Dipartimento di Biologia e Biotecnologie "C. Darwin", Sapienza, Università di Roma, Roma, - - 2014
Topoisomerase II is a major component of mitotic chromosomes but its role in the assembly and structural maintenance of chromosomes is rather controversial, as different chromosomal phenotypes have been observed in various organisms and in different studies on the same organism. In contrast to vertebrates that harbor two partially redundant ...
Kao Kuo-Wei KW Department of Agronomy, National Chung Hsing University, 250 Kuo Kuang Road, Taichung, 402, - - 2014
Understanding the molecular organization of the maize B-chromosome is hindered by its high homology with A-chromosomes. Recently, various approaches have been employed to overcome this hindrance, and several B-chromosome-specific sequences have been identified. Here, we cloned and characterized four previously published B-chromosome-specific RAPD fragments in detail. The results of sequence ...
Koryakov Dmitry E DE Institute of Molecular and Cellular Biology SB RAS, Novosibirsk State University, Novosibirsk, 630090, Russia, - - 2014
Drosophila cell lines are used extensively to study replication timing, yet data about DNA replication in larval and adult tissues are extremely limited. To address this gap, we traced DNA replication in polytene chromosomes from nurse cells of Drosophila melanogaster otu mutants using bromodeoxyuridine incorporation. Importantly, nurse cells are of ...
Foroud Tatiana T From the Indiana University School of Medicine, Indianapolis (T.F., D.L., D.K., J.M.); University Medical Center Utrecht, Utrecht, The Netherlands (F.v.H., G.R., Y.R.); Kuopio University Hospital, Kuopio, Finland (M.I.K., M.v.u.z.F., J.E.J.); University of Eastern Finland, Kuopio, Finland (M.I.K., M.v.u.z.F., J.E.J.); Massachusetts General Hospital and Harvard Medical School, Boston (M.I.K., A.P., S.R.); Broad Institute of Harvard and MIT, Cambridge, MA (M.I.K., A.P., S.R.); University of Sydney and Royal Prince Alfred Hospital, Sydney, Australia (C.S.A.); Mayo Clinic, Rochester, MN (R.D.B., J. Huston I.M.); Columbia University School of Medicine, New York, NY (E.S.C.); University of Helsinki, Helsinki, Finland (J.G.E., E.I.G.); Folkhälsan Research Center, Helsinki, Finland (J.G.E.); National Institute for Health and Welfare, Helsinki, Finland (J.G.E.); Vasa Central Hospital, Vasa, Finland (J.G.E.); Helsinki University Central Hospital, Helsinki, Finland (J.G.E., E.I.G., A.L., J. Hernesniemi, R.K., H.L., M.N.); University of Cincinnati, OH (M. Flaherty, D.K., C.J.M., L.S., D.W., J.B.); University of Texas Health Science Center at Houston (M. Fornage); Radboud University Medical Center, Nijmegen, The Netherlands (L.A.K., S.H.V.); University of California, San Francisco (N.K.); University of Mississippi Medical Center, Jackson (T.H.M.); Jagiellonian University Medical College, Krakow, Poland (M.M., J.P., A.S.); The Wellcome Trust Sanger Institute, Cambridge, United Kingdom (A.P.); University of Montreal, Montréal, Québec, Canada (G.R.); and University of Virginia School of Medicine, Charlottesville (B.B.W.). - - 2014
Common variants have been identified using genome-wide association studies which contribute to intracranial aneurysms (IA) susceptibility. However, it is clear that the variants identified to date do not account for the estimated genetic contribution to disease risk. Initial analysis was performed in a discovery sample of 2617 IA cases and ...
Le Tallec Benoît B Institut Curie, Centre de Recherche, 26 rue d'Ulm, 75248, Paris Cedex 05, - - 2014
Common fragile sites (CFSs) are large chromosomal regions long identified by conventional cytogenetics as sequences prone to breakage in cells subjected to replication stress. The interest in CFSs came from their key role in the formation of DNA damage, resulting in chromosomal rearrangements. The instability of CFSs was notably correlated with ...
Milosevic J J Faculté de Médecine, Laboratoire de Cytogénétique Constitutionnelle, Hôpital Cochin, APHP, Université Paris Descartes, Paris, - - 2014
Inverted duplications with terminal deletions are a well-defined family of complex rearrangements already observed for most of chromosome extremities. Several mechanisms have been suggested which could lead to their occurrence, either through non-homologous end joining, non-allelic homologous recombination, or more recently through an intrastrand fold-back mechanism. We describe here a ...
Blanchard Daniel P DP Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720; - - 2014
Lethal malignant brain tumors (lmbt) result from the loss of the conserved transcriptional repressor l(3)mbt, in Drosophila melanogaster. Similar mutations in the human homolog L3MBTL1 correlate with some cancers. The protein's C-terminal MBT repeats bind mono and dimethylated histones in vitro, which could influence recruitment of L3MBTL1 to its target ...
Yang Xian Rong XR Ophthalmology Department, Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010050, - - 2014
The human Y chromosome is always intriguing for researchers, because of its role in gender determination and its unusual evolutionary history. The Y chromosome evolves from an autosome, and its evolution has been characterized by massive gene decay. The lack of recombination and protein-coding genes and high content of repetitive ...
Zhang Wenpan W National Key Laboratory of Crop Genetics and Germplasm Enhancement, Cotton Research Institute, Nanjing Agricultural University, Nanjing 210095, - - 2014
Centromere usually contains high-copy-number retrotransposons and satellite repeats, which are difficult to map, clone and sequence. Currently, very little is known about the centromere in cotton. Here, we sequenced a bacterial artificial chromosome (BAC) mapping to the centromeric region and predicted four long-terminal-repeat (LTR) retrotransposons. They were located in the ...
Suárez-Villota Elkin Y EY Instituto de Ciencias Marinas y Limnológicas, Universidad Austral de Chile, Valdivia, - - 2014
Unlike the X chromosome, the mammalian Y chromosome undergoes evolutionary decay resulting in small size. This sex chromosomal heteromorphism, observed in most species of the fossorial rodent Ctenomys, contrasts with the medium-sized, homomorphic acrocentric sex chromosomes of closely related C. maulinus and C. sp. To characterize the sequence composition of ...
Matsubara Kazumi K Institute for Applied Ecology, University of Canberra, Canberra, A.C.T., - - 2014
Evaluating homology between the sex chromosomes of different species is an important first step in deducing the origins and evolution of sex-determining mechanisms in a clade. Here, we describe the preparation of Z and W chromosome paints via chromosome microdissection from the Australian marbled gecko (Christinus marmoratus) and their subsequent ...
Krishnan Badri B University of - - 2014
Regular meiotic chromosome segregation requires sister centromeres to mono-orient (orient to the same pole) during the first meiotic division (meiosis I) when homologous chromosomes segregate, and to bi-orient (orient to opposite poles) during the second meiotic division (meiosis II) when sister chromatids segregate. Both orientation patterns require cohesion between sister ...
Meyer Régis E - - 2014
Meiosis is characterized by two chromosome segregation rounds (Meiosis I and II), which follow a single round of DNA replication, resulting in haploid genome formation. Chromosome reduction occurs at meiosis I. It relies on key structures, such as chiasma, which is formed by repair between homologous chromatids of a double-strand ...
Dai Fei F Department of Agronomy, Zhejiang Key Laboratory of Crop Germplasm, Zhejiang University, Hangzhou 310058, - - 2014
The domestication of cultivated barley has been used as a model system for studying the origins and early spread of agrarian culture. Our previous results indicated that the Tibetan Plateau and its vicinity is one of the centers of domestication of cultivated barley. Here we reveal multiple origins of domesticated ...
Kynast Ralf G RG Royal Botanic Gardens, Kew, Richmond, Surrey, TW9 3AB, - - 2014
• Hydatellaceae are minute annual herbs with potential as a model system for studying early angiosperm evolution, but their karyology and ploidy levels are almost unknown. We investigated these aspects of Trithuria submersa, a widespread species that we show to be amenable to extended vegetative propagation.• We cultivated plants of ...
Demarre Gaëlle G CNRS, Centre de Génétique Moléculaire, Gif-sur-Yvette, France; Université Paris-Sud, Orsay, - - 2014
The replication terminus region (Ter) of the unique chromosome of most bacteria locates at mid-cell at the time of cell division. In several species, this localization participates in the necessary coordination between chromosome segregation and cell division, notably for the selection of the division site, the licensing of the division ...
Alpár Donát D Department of Pathology, University of Pécs Medical Center, Pécs, - - 2014
Pathogenesis of the non-random accumulation of extra chromosomes in the low and high hyperdiploid (HeL, HeH) pre-B pediatric acute lymphoblastic leukemia (B-pALL) is largely unknown, and has been clarified with respect only to tetrasomic chromosomes. We analyzed the hierarchy of changes in chromosome number and chromosomal instability, as well as ...
Junier Ivan I Centre for Genomic Regulation (CRG), Dr. Aiguader 88, 08003 Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain. Electronic address: - - 2014
The proper functioning of bacteria is encoded in their genome at multiple levels or scales, each of which is constrained by specific physical forces. At the smallest spatial scales, interatomic forces dictate the folding and function of proteins and nucleic acids. On longer length scales, stochastic forces emerging from the ...
Severson Aaron F AF Center for Gene Regulation in Health and Disease, Cleveland State University, Cleveland, United - - 2014
We show that multiple, functionally specialized cohesin complexes mediate the establishment and two-step release of sister chromatid cohesion that underlies the production of haploid gametes. In C. elegans, the meiotic kleisin subunits REC-8 and COH-3/4 endow cohesins with distinctive properties, specifying how cohesins load onto chromosomes and then trigger and ...
Zhang Yan Y Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Hong - - 2014
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease that affects mainly females. What role the X chromosome plays in the disease has always been an intriguing question. In this study, we examined the genetic variants on the X chromosome through meta-analysis of two genome-wide association studies (GWAS) on SLE ...
Van Cauwenberghe Jannick J Plant Conservation and Population Biology, Biology Department, KU Leuven, Kasteelpark Arenberg 31, B-3001 Leuven, Belgium; Centre of Microbial and Plant Genetics, KU Leuven, Kasteelpark Arenberg 20, B-3001 Leuven, Belgium. Electronic address: - - 2014
The genetic diversity and population structure of about 350 Rhizobium leguminosarum biovar viciae isolates from Vicia cracca were analysed. A hierarchical sampling design was used covering three regions, one region in Belgium and two in France, in which multiple local V. cracca populations were sampled. Rhizobium isolates were genotyped using ...
Wu Jun J Center of Pear Engineering Technology Research, Nanjing Agricultural University, Nanjing 210095, - - 2014
Pear (Pyrus spp) is an important fruit crop, grown in all temperate regions of the world, with global production ranked after grape and apples among deciduous tree crops. A high-density linkage map is a valuable tool for fine mapping quantitative trait loci (QTL) and map-based gene cloning. In this study, ...
Myers Joseph N JN Jr Division of Dermatology, Georgia Regents University, Augusta, - - 2014
A 6-year-old girl presented for evaluation of skin discoloration. Examination revealed oval and oblong hypopigmented macules on her trunk and extremities. Cytogenetic studies and immunohistochemistry of biopsies from normally pigmented and hypopigmented skin revealed mosaicism for partial tetrasomy for 13q with low melanocyte levels in lesional skin. The patient was ...
González-Del Angel Ariadna A Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Distrito Federal, - - 2014
Trisomy 13, or Patau syndrome, is a chromosomal disorder that can occur in complete, partial, or mosaic forms. Mosaicism is observed in 6% of individuals with trisomy 13 and, in contrast to the complete form, has wide phenotypic variability, longer survival, and in some patients an unusual skin pigmentary pattern ...
Singla Shilpy S Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, - - 2014
A 7-month-old male presented with developmental delay and multiple congenital anomalies. He was found to have partial trisomy for the distal segment of chromosome 15 (q22-qter). Chromosome analysis of the mother showed a reciprocal balanced translocation between long arms of chromosome 6 and 15, t (6;15)(q26;q22).
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