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Paço A A Institute for Biotechnology and Bioengineering, Centre of Genomics and Biotechnology, University of Trás-os-Montes and Alto Douro (IBB/CGBUTAD), Apdo 1013, 5001-801 Vila Real, - - 2014
With the goal to contribute for the understanding of satellite DNA evolution and its genomic involvement, in this work it was isolated and characterized the first satellite DNA (PSUcentSat) from Phodopus sungorus (Cricetidae). Physical mapping of this sequence in Phodopus sungorus showed large PSUcentSat arrays located at the heterochromatic (peri)centromeric ...
Hara Tomomi T Bioscience and Biotechnology Center, Nagoya University, Nagoya, 464-8601, - - 2014
The endosperm of cereal grains represents the most important source of human nutrition. In addition, the endosperm provides many investigatory opportunities for biologists because of the unique processes that occur during its ontogeny, including syncytial development at early stages. Rice endospermless 1 (enl1) develops seeds lacking an endosperm but carrying ...
Maffei Massimo M IRCCS AOU San Martino - IST, Genoa, - - 2014
DNA aneuploid sublines in sporadic colorectal cancers (CRCs) are quite frequent (about 85%) and likely the consequence of chromosomal instability and DNA copy number aberrations (CNAs). In order to gain insight into the mechanisms of the diploid-aneuploid transition in CRCs, we compared the CNA status in both diploid and aneuploid ...
Shamurailatpam Anju A Department of Biotechnology and Bioinformatics, North Eastern Hill University, Shillong, 793022, - - 2014
Heterochromatin regions are the most intensively studied and best known chromosome markers in plants. In Vigna species, blocks of constitutive heterochromatin were found either in the terminal or interstitial region of the chromosomes. The number and distribution of CMA(+) and DAPI(+) binding sites exhibit high chromosomal variability with characteristic unique ...
Glover Lucy L Division of Biological Chemistry and Drug Discovery, College of Life Sciences, University of Dundee, Dow Street, Dundee DD1 5EH, - - 2014
The African trypanosome, Trypanosoma brucei, is a parasitic protozoan that achieves antigenic variation through DNA-repair processes involving Variant Surface Glycoprotein (VSG) gene rearrangements at subtelomeres. Subtelomeric suppression of DNA repair operates in eukaryotes but little is known about these controls in trypanosomes. Here, we identify a trypanosome histone acetyltransferase (HAT3) ...
Gianaroli Luca L SISMER Reproductive Medicine Unit, V. Mazzini 12, 40138 Bologna Italy - - 2014
To investigate the mitochondrial DNA (mtDNA) segregation in human oocytes, the level of heteroplasmy in the three products of meioses, polar bodies (PBs) and corresponding oocytes, was assessed by studying the hypervariable region I (HVRI) of the D-loop region. The DNA from 122 PBs and 51 oocyte from 16 patients ...
Le Tung Bk TB Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, - - 2014
In all organisms, chromosomal DNA must be compacted nearly three orders of magnitude to fit within the limited volume of a cell. However, chromosomes cannot be haphazardly packed, and instead must adopt structures compatible with numerous cellular processes, including DNA replication, chromosome segregation, recombination, and gene expression. Recent technical advances ...
Zeesman Susan S Department of Pediatrics, McMaster University, Hamilton, Ontario, - - 2014
Malsegregation of chromosomes during reproduction can result in uniparental disomy when associated with trisomy rescue, monosomy rescue or gamete complementation. Pathogenicity stemming from uniparental disomy in liveborns results from imprinting disorders or autozygosity for autosomal recessive disorders. We report on a girl with Prader-Willi syndrome and Tay-Sachs disease resulting from ...
Mastro Tara L TL University of Southern - - 2014
Schizosaccharomyces pombe Rad16 is the orthologue of the XPF structure-specific endonuclease, which is required for nucleotide excision repair and implicated in the single strand annealing mechanism of recombination. We show that Rad16 is important for proper completion of meiosis. In its absence, cells suffer reduced spore viability and abnormal chromosome ...
Tchurikov Nickolai A NA Department of Epigenetic Mechanisms of Gene Expression Regulation, Engelhardt Institute of Molecular Biology, Moscow 119334, Russia - - 2014
DNA double-strand breaks (DSBs) are involved in many cellular mechanisms, including replication, transcription, and genome rearrangements. The recent observation that hot spots of DSBs in human chromosomes delimit DNA domains that possess coordinately expressed genes suggests a strong relationship between the organization of transcription patterns and hot spots of DSBs. ...
Oke Ashwini A Department of Obstetrics, Gynecology and Reproductive Sciences, Center of Reproductive Sciences, University of California, San Francisco, San Francisco, California, United States of - - 2014
Crossovers (COs) play a critical role in ensuring proper alignment and segregation of homologous chromosomes during meiosis. How the cell balances recombination between CO vs. noncrossover (NCO) outcomes is not completely understood. Further lacking is what constrains the extent of DNA repair such that multiple events do not arise from ...
Lee Younghyun - - 2014
Abstract Purpose: We investigated the association between occupational radiation exposure and DNA methylation changes in nuclear power plant workers. We also evaluated whether radiation-induced DNA methylation alterations are associated with chromosome aberrations. Materials and methods: The study population included 170 radiation-exposed workers and 30 controls. We measured global, long interspersed ...
Gianaroli Luca L Reproductive Medicine Unit, Società Italiana Studi di Medicina della Riproduzione, Bologna, Italy. Electronic address: - - 2014
To investigate the presence of DNA in blastocyst fluids (BFs) and to estimate whether the chromosomal status predicted by its analysis corresponds with the ploidy condition in trophectoderm (TE) cells, the whole embryo, and that predicted by polar bodies (PBs) or blastomeres. Prospective study. In vitro fertilization unit. Seventeen couples undergoing ...
Titos Iris I Centre for Genomic Regulation, 08003 Barcelona, Spain Universitat Pompeu Fabra, 08003 Barcelona, - - 2014
To allow chromosome segregation, topoisomerase II (topo II) must resolve sister chromatid intertwines (SCI) formed during deoxynucleic acid (DNA) replication. How this process extends to the full genome is not well understood. In budding yeast, the unique structure of the ribosomal DNA (rDNA) array is thought to cause late SCI ...
Balajee Adayabalam S AS Center for Radiological Research, Department of Radiation Oncology, College of Physicians and Surgeons, Columbia University Medical Center, 168th Street, 630 West, New York, NY 10032, USA. - - 2014
Micronucleation of chromosomal DNA is an effective indicator of DNA damage and micronucleus (MN) analysis is a valuable tool for radiation biodosimetry studies. To gain a comprehensive knowledge of micronucleation process after ionising radiation (IR) exposure, whole genome-wide chromosome analysis is desirable. With this objective, multicolour fluorescence in situ hybridization ...
Franzke Bernhard B Research Platform Active Ageing, Faculty of Life Sciences and Centre for Sport Science and University Sports, University of Vienna, Althanstraße 14, 1090 Vienna, - - 2014
Ageing goes hand in hand with altered DNA repair and defence mechanisms against DNA damage. To improve the body's overall resistance against chromosomal damage, maintaining a healthy and active lifestyle is of great concern, especially in the elderly. As more and more people are getting older, they change from home ...
Bolon Yung-Tsi YT University of Minnesota; National Marrow Donor - - 2014
Fast neutron radiation has been used as a mutagen to develop extensive mutant collections. However, the genome-wide structural consequences of fast neutron radiation are not well understood. Here, we examine the genome-wide structural variants observed among 264 soybean (Glycine max (L.) Merrill) plants sampled from a large fast neutron-mutagenized population. ...
Lin Bin B The Key Laboratory of Stem Cell Biology, Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine and Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, PR - - 2014
We report on a patient with a 47,XXY karyotype who presents a normal female phenotype, which is an extremely rare observation worldwide. The patient is infertile. Type B ultrasound scans and other tests suggested that her ovaries had completely failed. Microsatellite DNA marker analysis revealed that the 2 X chromosomes ...
Di Paolo Aurélie A Institute of Pharmacology and Structural Biology, Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 5089, Toulouse, France; University of Toulouse, Université Paul Sabatier, Toulouse, France; - - 2014
In contrast to its well-known role in the DNA damage response during interphase, the function of BRCA1 in the maintenance of chromosomal stability during mitosis remains to be defined. In this study, we uncover a novel role of BRCA1 in preserving centromere integrity in mitotic human cells. Using immunofluorescence and ...
Huang Haomin H Institute of Cell Biology, University of Edinburgh, Kings׳ Buildings, Edinburgh EH9 3JR, UK. Electronic address: - - 2014
The Escherichia coli bacteriophage P1 packages host chromosome separately from phage DNA, and transfers it to recipient cells at low frequency in a process called generalized transduction. Phage genomes are packaged from concatemers beginning at a specific site, pac. To increase transduction rate, we have inserted pac into the chromosome ...
Dorfman Luiza L Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, - - 2014
to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array-CGH) in DNA samples of neonates with congenital anomalies of unknown cause from a birth defects monitoring program at a public maternity hospital. a blind genomic analysis was performed retrospectively in 35 stored DNA samples of neonates born between July ...
Garrigan Daniel D Department of Biology, University of Rochester, Rochester, New York, USA - - 2014
Drosophila mauritiana is an Indian Ocean island endemic species that diverged from its two sister species, Drosophila simulans and Drosophila sechellia, ~240,000 years ago. Multiple forms of incomplete reproductive isolation have evolved among these species, including sexual, gametic, ecological, and intrinsic postzygotic barriers, with crosses among all three species conforming ...
Ghezraoui Hind H Museum National d'Histoire Naturelle, 43 rue Cuvier, F-75005 Paris, France; CNRS, UMR7196, 43 rue Cuvier, F-75005 Paris, France; Inserm, U1154, 43 rue Cuvier, F-75005 Paris, - - 2014
Breakpoint junctions of the chromosomal translocations that occur in human cancers display hallmarks of nonhomologous end-joining (NHEJ). In mouse cells, translocations are suppressed by canonical NHEJ (c-NHEJ) components, which include DNA ligase IV (LIG4), and instead arise from alternative NHEJ (alt-NHEJ). Here we used designer nucleases (ZFNs, TALENs, and CRISPR/Cas9) ...
Saberi Alihossein A Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapour university of Medical Sciences, Ahvaz, Iran Narges Genetic Lab, Ahvaz, Iran. - - 2014
Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm ...
Marinho Rafaela C RC Instituto de Genética e Bioquímica, Universidade Federal de Uberlândia, Uberlândia-MG 38400-902, - - 2014
• Whole genome duplication (WGD) and specific polyploidy events marked turning points for angiosperm genome structure and evolution. Therefore, cytogenetic studies of polyploidy-prone groups such as the tropical Malvaceae and plant formations such as as the Brazilian Cerrado have gained further importance. We present new chromosome counts for Cerrado Bombacoideae ...
Mortimer Tatum D TD Department of Medical Microbiology and Immunology, University of Wisconsin-Madison Microbiology Doctoral Training Program, University of - - 2014
Distributive conjugal transfer (DCT) is a newly described mechanism of lateral gene transfer (LGT) that results in a mosaic transconjugant structure, similar to products of meiosis. We have tested popular LGT detection methods on whole genome sequence (WGS) data from experimental DCT transconjugants and used the best performing methods to ...
Nakanishi Hiroaki H Department of Forensic Medicine, Juntendo University School of Medicine, 2-1-1, Hongo, Bunkyo-Ku, Tokyo, 113-8421, Japan, - - 2014
A novel method for sex determination, based on the detection of the number of X chromosomes, was established. Current methods, based on the detection of the Y chromosome, can directly identify an unknown sample as male, but female gender is determined indirectly, by not detecting the Y chromosome. Thus, a ...
Jeppsson Kristian K Karolinska Institutet, Department of Cell and Molecular Biology, von Eulers väg 3, 171 77 Stockholm, - - 2014
Structural maintenance of chromosomes (SMC) complexes, which in eukaryotic cells include cohesin, condensin and the Smc5/6 complex, are central regulators of chromosome dynamics and control sister chromatid cohesion, chromosome condensation, DNA replication, DNA repair and transcription. Even though the molecular mechanisms that lead to this large range of functions are ...
Liang J J Department of Entomology, Nanjing Agricultural University, Nanjing, - - 2014
Anopheles sinensis (Diptera: Culicidae) is an important vector of Plasmodium vivax in Southeast Asia. To facilitate population genetic and genomic studies of An. sinensis, we developed a standard cytogenetic photomap for this species. The polytene chromosomes were straightened and divided into 39 numbered divisions and 116 lettered subdivisions. The chromosomal localizations ...
Baird A E G AE Department of Infection Biology, Institute of Infection and Global Health, School of Veterinary Science, University of Liverpool, Liverpool, L3 5RF, UK; CIGMR (Centre for Integrated Genomic Medical Research), Faculty of Medical and Human Sciences Manchester University, Manchester, M13 9PT, - - 2014
Cranial cruciate ligament rupture (CCLR) is the most common cause of pelvic limb lameness in dogs. To investigate the genetic basis of canine CCLR, we conducted a genome-wide association study using a canine SNP array in Newfoundland pedigree dogs with and without CCLR (n = 96). We identified three main chromosomal regions ...
Mochizuki H H Graduate School of Agricultural and Life Sciences, University of Tokyo, Tokyo, - - 2014
X-chromosome inactivation pattern (XCIP) analysis has been widely used to assess cell clonality in various types of human neoplasms. In this study, a polymerase chain reaction-based canine XCIP analysis of the androgen receptor (AR) gene was applied for the assessment of cell clonality in canine hematopoietic tumors. This XCIP analysis ...
Clark-Ganheart Cecily A CA Obstetrics and Gynecology, MedStar Washington Hospital Center, Washington, DC, - - 2014
Circulating cell free fetal DNA (cffDNA) is an effective screening modality for fetal aneuploidy. We report two cases of false positive results. The first case involves a female, with self-reported Down syndrome. CffDNA returned positive for trisomy 18 leading to a maternal diagnosis of mosaicism chromosome 18 with normal fetal ...
Gore-Panter Shamone R SR Department of Cellular and Molecular Medicine, Cleveland Clinic, Cleveland, Ohio, United States of America ; Department of Molecular Medicine, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, United States of - - 2014
Atrial Fibrillation (AF), the most common sustained arrhythmia, has a strong genetic component, but the mechanism by which common genetic variants lead to increased AF susceptibility is unknown. Genome-wide association studies (GWAS) have identified that the single nucleotide polymorphisms (SNPs) most strongly associated with AF are located on chromosome 4q25 ...
Randi Ettore E Laboratorio di Genetica, Istituto Superiore per la Protezione e Ricerca Ambientale, Ozzano Emilia, Bologna, Italy ; Department 18/Section of Environmental Engineering, Aalborg University, Aalborg, - - 2014
Hybridization and introgression can impact the evolution of natural populations. Several wild canid species hybridize in nature, sometimes originating new taxa. However, hybridization with free-ranging dogs is threatening the genetic integrity of grey wolf populations (Canis lupus), or even the survival of endangered species (e.g., the Ethiopian wolf C. simensis). ...
Rossi Elena E Department of Molecular Medicine, Pavia University, Pavia, - - 2014
Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. ...
Misenko Sarah M SM Department of Molecular Biology and Biochemistry, Rutgers, the State University of New - - 2014
Defective DNA repair leads to increased genomic instability, which is the root cause of mutations that lead to tumorigenesis. Analysis of the frequency and type of chromosome aberrations in different cell types allows defects in DNA repair pathways to be elucidated. Understanding mammalian DNA repair biology has been greatly helped ...
Mayán Maria D MD Cell Cycle Group, MRC Clinical Sciences Centre, Imperial College, London, UK, - - 2014
Studying interphase chromosome arrangements at the molecular level can provide important details on the function and coordination of many metabolic processes that take place on DNA, such as transcription or DNA repair. The chromosome conformation capture (3C) methodology was originally developed in yeast to study the interphase organization of a ...
Dos Santos Godoy Gleice Cristina GC Department of Basic Sciences, Medical School, UFMT, Cuiabá, MT, - - 2014
To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil. This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. ...
Salas-Labadía Consuelo C Departamento de Genética Humana, Laboratorio de Cultivo de Tejidos, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, México, DF C.P. 04530 - - 2014
Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented linear spots in arms and legs and developmental delay. At ...
Baulch Janet E JE Department of Radiation Oncology, University of California Irvine, Irvine, California, United States of - - 2014
Radiation induced genomic instability is a well-studied phenomenon, the underlying mechanisms of which are poorly understood. Persistent oxidative stress, mitochondrial dysfunction, elevated cytokine levels and epigenetic changes are among the mechanisms invoked in the perpetuation of the phenotype. To determine whether epigenetic aberrations affect genomic instability we measured DNA methylation, ...
Raeside Colin - - 2014
Large-scale rearrangements may be important in evolution because they can alter chromosome organization and gene expression in ways not possible through point mutations. In a long-term evolution experiment, twelve Escherichia coli populations have been propagated in a glucose-limited environment for over 25 years. We used whole-genome mapping (optical mapping) combined with genome ...
Heckmann Stefan S Department of Cytogenetics and Genome Analysis, Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Corrensstraße 3, 06466 Gatersleben, - - 2014
Holocentric chromosomes occur in a number of independent eukaryotic lineages. They form holokinetic kinetochores along the entire poleward chromatid surfaces, and owing to this alternative chromosome structure, species with holocentric chromosomes cannot use the two-step loss of cohesion during meiosis typical for monocentric chromosomes. Here we show that the plant ...
Walton Emma L EL CNRS UMR7216, Epigenetics and Cell Fate, Université Paris Diderot, Bâtiment Lamarck, 4ème étage Case Courrier 7042, 35 rue Hélène Brion, 75205 Paris, France. - - 2014
The correct establishment and maintenance of DNA methylation patterns are critical for mammalian development and the control of normal cell growth and differentiation. DNA methylation has profound effects on the mammalian genome, including transcriptional repression, modulation of chromatin structure, X chromosome inactivation, genomic imprinting, and the suppression of the detrimental ...
Dupont Celine C Unité fonctionnelle de Cytogénétique-Département de Génétique- APHP, Hôpital Robert Debré, 48 Bd Sérurier, 75935 Paris, - - 2014
Roberts syndrome (RBS) is a rare autosomal recessive disorder mainly characterized by growth retardation, limb defects and craniofacial anomalies. Characteristic cytogenetic findings are "railroad track" appearance of chromatids and premature centromere separation in metaphase spreads. Mutations in the ESCO2 (establishment of cohesion 1 homolog 2) gene located in 8p21.1 have ...
Aldrich John C JC Department of Biology, Texas A&M University, College Station, Texas, United States of - - 2014
Heterochromatin is a significant component of the human genome and the genomes of most model organisms. Although heterochromatin is thought to be largely non-coding, it is clear that it plays an important role in chromosome structure and gene regulation. Despite a growing awareness of its functional significance, the repetitive sequences ...
Jung Seung-Hyun - - 2013
Somatic mosaicism of copy number variants (CNVs) in human body organs and de novo CNV event in monozygotic twins suggest that de novo CNVs can occur during mitotic recombination. These de novo CNV events are important for understanding genetic background of evolution and diverse phenotypes. In this study, we explored ...
Stern Joshua A - - 2013
The aim of this study was to better define the extent of linkage disequilibrium (LD) in populations of large-breed dogs and its variation by breed and chromosomal region. Understanding the extent of LD is a crucial component for successful utilization of genome-wide association studies and allows researchers to better define ...
Wheeldon Tyler J - - 2013
Hybridization has played an important role in the evolutionary history of Canis species in eastern North America. Genetic evidence of coyote-dog hybridization based on mitochondrial DNA (mtDNA) is lacking compared to that based on autosomal markers. This discordance suggests dog introgression into coyotes has potentially been male biased, but this ...
Kociucka B - - 2013
Great progress has been achieved over the last years in studies on chromosome arrangement in mammalian cell nuclei. Growing evidence indicates that the genome's spatial organization is of functional relevance. So far, no attention has been paid to the nuclear organization of B chromosomes (Bs). In this study we have ...
Sacks Benjamin N - - 2013
Dogs originated >14,000 BP, but the location(s) where they first arose is uncertain. The earliest archaeological evidence of ancient dogs was discovered in Europe and the Middle East, some 5-7 millennia before that from Southeast Asia. However, mitochondrial DNA analyses suggest that most modern dogs derive from Southeast Asia, which ...
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