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Hoehn René - - 2012
Central corneal thickness (CCT) has become an endophenotype of major interest for the genetically complex disorder glaucoma. CCT has a high heritability, and thin CCT is an independent risk factor for the diagnosis and progression of open-angle glaucoma. Genome-wide association studies thus provide genetic loci associated with CCT and potentially ...
Simms Tanya M - - 2012
Although previous studies have characterized the genetic structure of populations from Haiti and Jamaica using classical and autosomal STR polymorphisms, the patrilineal influences that are present in these countries have yet to be explored. To address this lacuna, the current study aims to investigate, for the first time, the potential ...
Natarajan Adayapalam T - - 2012
This review traces the history of cytogenetic studies on the induction of chromosomal alterations by chemicals and radiation as observed by a single investigator over half a century. The work begins with early studies using traditional plant cytogenetics and extends through the integration of molecular methodology into cytogenetic studies in ...
St Charles Jordan - - 2012
In diploid eukaryotes, repair of double-stranded DNA breaks by homologous recombination often leads to loss of heterozygosity (LOH). Most previous studies of mitotic recombination in Saccharomyces cerevisiae have focused on a single chromosome or a single region of one chromosome at which LOH events can be selected. In this study, ...
Huang Keng-Hsuan - - 2011
Genome rearrangements are studied on the basis of genome-wide analysis of gene orders and important in the evolution of species. In the last two decades, a variety of rearrangement operations, such as reversals, transpositions, block-interchanges, translocations, fusions and fissions, have been proposed to evaluate the differences between gene orders in ...
Liang Li - - 2011
A follow-up study of the late effects of intrauterine exposure to irradiation has been made on a 16-year-old girl whose mother was exposed to external (60)Co irradiation during the Xinzhou radiation accident 16 years previously. The outcomes of the general medical examinations, conventional chromosome aberration analyses and fluorescence in situ hybridisation ...
Mukherjee Debayan - - 2011
Ionizing radiation is unequivocally leukemogenic and carcinogenic, and this is generally attributed to DNA damage arising as a consequence of deposition of energy in the cell nucleus at the time of exposure. However, nontargeted effects, in which DNA damage is produced in nonirradiated cells as a consequence of cell signaling ...
Sciurano R B - - 2011
The basic molecular mechanisms by which chromosomal rearrangements in heterozygous state produce spermatogenic disturbances are poorly understood. Testicular biopsies from five patients - one carrier of a Robertsonian translocation rob t(13;14), two carriers of two different Y-autosome translocations, a t(Y;6) and a t(Y;11), one carrier of a reciprocal translocation t(3;13) ...
Sibbons Charlene - - 2012
We report a large series of 173 patients with physical and/or neurological abnormalities and a de novo imbalance identified by array CGH. Breakpoint intervals were screened for the presence of low copy repeats (LCRs) to distinguish between rearrangements formed by non-allelic homologous recombination (NAHR) and rearrangements formed by other mechanisms. ...
Dumont Sophie - - 2011
Chromosome segregation is a mechanical process, and the spindle generates, and is subject to, mechanical force. A recent study probes how the mechanical architecture of the spindle allows it to maintain mechanical integrity despite these forces.
Klett R - - 2011
Radiosynoviorthesis (RSO) with the nuclides rhenium-186 sulphide (186Re) and erbium-169 citrate (169Er) is an established concept for the treatment of persistent synovitis of medium and small sized joints. The aim of the present studies was to investigate the biological radiation effect based on analysing chromosome aberrations. Patients, methods: Immediately before ...
Zakeri F - - 2011
In order to investigate the biological effects of exposure to low-dose radiation and to assess the dose-effect relationship in residents of high background radiation areas (HBRAs) of Ramsar, cytogenetic investigation of unstable-type aberrations was performed in 15 healthy elderly women in a HBRA of Ramsar, Talesh mahalle, and in 10 ...
Moghbeli-Nejad Sahar - - 2012
Men are exposed to various doses of ionizing radiation due to living in regions with high natural background radiation, accidentally, occupationally or for cancer treatment. To study genomic instability of AZFc region to gamma radiation, blood samples from normal, oligozoospermia, and azoospermia individuals were irradiated by a Co-60 source. Irradiated ...
Marcon Francesca - - 2012
Recent evidences have highlighted an influence of micronutrients in the maintenance of telomere length (TL). In order to explore whether diet-related telomere shortening had any physiological relevance and was accompanied by significant damage in the genome, in the present study, TL was assessed by terminal restriction fragment (TRF) analysis in ...
Ma Xiaofei - - 2011
The whole bodies of 6-week-old male Kun-Ming mice were exposed to different doses of (12)C(6+) ions or X-rays. Chromosomal aberrations of the bone marrow (gaps, terminal deletions and breaks, fragments, inter-chromosomal fusions and sister-chromatid union) were scored in metaphase 9h after exposure, corresponding to cells exposed in the G(2)-phase of ...
Best Timothy T Committee on Cancer Biology, University of Chicago, Chicago, Illinois, - - 2011
Survivors of pediatric Hodgkin's lymphoma are at risk for radiation therapy-induced second malignant neoplasms (SMNs). We identified two variants at chromosome 6q21 associated with SMNs in survivors of Hodgkin's lymphoma treated with radiation therapy as children but not as adults. The variants comprise a risk locus associated with decreased basal ...
Cuylen Sara - - 2011
The correct segregation of eukaryotic genomes requires the resolution of sister DNA molecules and their movement into opposite halves of the cell before cell division. The dynamic changes chromosomes need to undergo during these events depend on the action of a multi-subunit SMC (structural maintenance of chromosomes) protein complex named ...
Thorvaldsen Joanne L - - 2011
Xist RNA inactivates one mammalian X chromosome (the Xi) by associating with it in cis. The mechanism of this interaction is unresolved. Jeon and Lee (2011) now show that YY1 binds both Xist RNA and DNA, thereby providing a mechanism to anchor Xist to the Xi and facilitate X chromosome ...
Ponnaiya Brian - - 2011
There is increasing evidence that two of the biological effects associated with low-dose ionizing radiation, genomic instability and bystander responses, may be linked. To verify and validate the link between the two phenomena, the ability of Si490 ions (high-energy particles associated with radiation risk in space) to induce bystander responses ...
Schmid T E - - 2011
Abstract There is rapidly increasing information on the issue of three-dimensional nuclear architecture, according to which chromosomes are organized in localized territories and chromosome arms in exclusive domains within a given territory. The aim of the present study was to investigate the impact of different cell exposure conditions on cytogenetic ...
Pontier Daphne B - - 2011
X chromosome inactivation (XCI) is a process in mammals that ensures equal transcript levels between males and females by genetic inactivation of one of the two X chromosomes in females. Central to XCI is the long non-coding RNA Xist, which is highly and specifically expressed from the inactive X chromosome. ...
Guo Dongmei - - 2011
Activating mutations in NOTCH1 consitute the most prominent genetic abnormality in T-cell acute lymphoblastic leukemia (T-ALL). However, most T-ALL cell lines with NOTCH1 mutations are resistant to treatment with γ-secretase inhibitors (GSIs). The spotlight is now shifting to the phosphatidylinositide 3-kinase (PI3K)/phosphatase and tensin homolog deleted on chromosome ten (PTEN)/AKT/mammalian ...
Boyarchuk Ekaterina - - 2011
Classical heterochromatin chromosomal landmarks, such as centromeres and telomeres, are characterized by specific chromatin signatures. Among these, the incorporation of histone variants has recently emerged as an important feature. Using the centromere as a paradigm, we consider the role of histone variant dynamics in locus-specific chromatin organization. We describe the ...
Wu Min M College of Life Sciences, Wuhan University, Wuhan, Hubei 430072, P. R. China. - - 2011
MLL1 is a histone H3Lys4 methyltransferase and forms a complex with WDR5 and other components. It plays important roles in developmental events, transcriptional regulation, and leukemogenesis. MLL1-fusion proteins resulting from chromosomal translocations are molecular hallmarks of a special type of leukemia, which occurs in over 70% infant leukemia patients and ...
van den Berg I M - - 2011
BACKGROUND Chromosome segregation errors during human oocyte meiosis are associated with low fertility in humans and the incidence of these errors increases with advancing maternal age. Studies of mitosis and meiosis suggest that defective remodeling of chromatin plays a causative role in aneuploidy. We analyzed the histone deacetylation pattern during ...
Black Ben E BE Department of Biochemistry and Biophysics, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA. - - 2011
Centromeres direct chromosome inheritance, but in multicellular organisms their positions on chromosomes are primarily specified epigenetically rather than by a DNA sequence. The major candidate for the epigenetic mark is chromatin assembled with the histone H3 variant CENP-A. Recent studies offer conflicting evidence for the structure of CENP-A-containing chromatin, including ...
Reddy Bharat D BD Department of Biological Sciences, Columbia University, New York, NY 10027, - - 2011
In Schizosaccharomyces pombe, the RNAi pathway is required for the formation of pericentric heterochromatin, proper chromosome segregation, and repression of pericentric meiotic recombination. Here we demonstrate that, when the activity of the histone H3 Lys 14 (H3K14) acetyltransferase Mst2 is eliminated, the RNAi machinery is no longer required for pericentric ...
Matsumura Fumio - - 2011
Myosin phosphatase is a heterotrimeric holoenzyme consisting of myosin phosphatase-targeting subunit 1 (MYPT1), a catalytic subunit of PP1Cβ, and a 20-kDa subunit of an unknown function. We have previously reported that myosin phosphatase also controls mitosis, apparently by antagonizing polo-like kinase 1 (PLK1). Here we found that depletion of MYPT1 ...
Wang Qiong - - 2011
An oocyte undergoes two rounds of asymmetric division to generate a haploid gamete and two small polar bodies designed for apoptosis. Chromosomes play important roles in specifying the asymmetric meiotic divisions in the oocytes but the underlying mechanism is poorly understood. Chromosomes independently induce spindle formation and cortical actomyosin assembly ...
Zhang Yang - - 2011
We introduce a new polymer model for mitotic chromosomes. The key assumption of the model is the ability of the chromatin fibre to cross-link to itself due to binding proteins. These protein-chromatin interactions are included by a probabilistic and dynamic mechanism. The hypothesis is motivated by the observation of high ...
Franken Nicolaas A P - - 2011
Various types of radiation effects in mammalian cells have been studied with the aim to predict the radiosensitivity of tumours and normal tissues, e.g. DNA double strand breaks (DSB), chromosome aberrations and cell reproductive inactivation. However, variation in correlations with clinical results has reduced general application. An additional type of ...
Chaumeil Julie - - 2011
X chromosome inactivation (XCI) is the transcriptional silencing of one X in female mammals, balancing expression of X genes between females (XX) and males (XY). In placental mammals non-coding XIST RNA triggers silencing of one X (Xi) and recruits a characteristic suite of epigenetic modifications, including the histone mark H3K27me3. ...
Bergmann Jan H JH Wellcome Trust Centre for Cell Biology, University of Edinburgh, Edinburgh, Scotland, - - 2011
Kinetochores assemble on distinct 'centrochromatin' containing the histone H3 variant CENP-A and interspersed nucleosomes dimethylated on H3K4 (H3K4me2). Little is known about how the chromatin environment at active centromeres governs centromeric structure and function. Here, we report that centrochromatin resembles K4-K36 domains found in the body of some actively transcribed ...
Chandra Rachna R Department of Surgery, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ, - - 2010
To test the hypothesis, using an animal model, whether female X-chromosome mosaicism for inflammatory gene expression could contribute to the gender dimorphic response during the host response. X-chromosome-linked genetic polymorphisms present a unique biological condition because females display heterozygous cellular mosaicism, due to the fact that either the maternal or ...
Quintero-Rivera Fabiola - - 2010
We describe the outcome of two consecutive pregnancies with a clinical presentation of ornithine transcarbamylase (OTC) deficiency (OTCD) without a molecular diagnosis. A 119kb deletion on Xp11.4 including the OTC gene was detected in the mother. The same deletion was identified in the blood spots from deceased male newborns. In ...
Agrawala Paban K - - 2010
Exposure to ionizing radiations, whether medical, occupational or accidental, leads to deleterious biological consequences like mortality or carcinogenesis. It is considered that no dose of ionizing radiation exposure is safe. However, once the accurate absorbed dose is estimated, one can be given appropriate medical care and the severe consequences can ...
Rana Sudha - - 2010
Radiation incident involving living organisms is an uncommon but a very serious situation. The first step in medical management including triage is high-throughput assessment of the radiation dose received. Radiation exposure levels can be assessed from viability of cells, cellular organelles such as chromosome and different intermediate metabolites. Oxidative damages ...
Castanhole Márcia Maria Urbanin - - 2010
Spittlebugs annually infest pastures and cause severe damage, representing a serious problem for the tropical American beef cattle industry. Spittlebugs are an important biotic constraint to forage production and there is a lack of cytogenetic data for this group of insects. For these reasons, we conducted this work, in which ...
Erez A - - 2010
Dopamine beta-hydroxylase (DBH) deficiency is characterized by a lack of sympathetic noradrenergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function. The diagnosis of DBH deficiency is based on clinical findings, biochemical studies, and sequencing of DBH gene. We report here the characterization of a mosaic cytogenetic ...
Ni Juan - - 2010
Chromosome 8 aneuploidy is a common event in certain cancers but whether folate (F) deficiency induces chromosome 8 aneuploidy is not known. Furthermore the impact of riboflavin (R) deficiency, which may alter activity of a key enzyme in folate metabolism, on these events is unknown. Therefore, the aim of our ...
Browning M J - - 2010
Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide ...
Neri Giovanni - - 2009
Over the past some 160 years, the study of Down syndrome (DS) went from early efforts of differentiating it from cretinism (S??guin) to its establishment as a specific nosologic category of mental deficiency (Down) and subsequent attempts to infer its cause. DS was known to be an overwhelmingly sporadic disorder, ...
Gr?tzner Niels - - 2010
Cobalamin deficiency is a common disorder in Chinese Shar Peis (Shar Peis) and is thus suspected to be hereditary. The objective of this study was to identify a genomic region or locus that cosegregates with the phenotype of cobalamin deficiency in Shar Peis. Serum cobalamin concentrations were measured, and blood ...
Min-Oo G - - 2010
Resistance to blood-stage malaria in AcB55 and AcB61 is caused by a loss of function mutation in pyruvate kinase (Pklr(I90N)). Likewise, pyruvate kinase (PK) deficiency in humans is protective against Plasmodium replication in vitro. We identified a third AcB strain, AcB62 that also carries the Pklr(I90N) mutation. However, AcB62 mice ...
Stenberg Per - - 2009
Chromosomal instability, which involves the deletion and duplication of chromosomes or chromosome parts, is a common feature of cancers, and deficiency screens are commonly used to detect genes involved in various biological pathways. However, despite their importance, the effects of deficiencies, duplications, and chromosome losses on the regulation of whole ...
Jones Martin R - - 2009
Genomic rearrangements are widely used in Caenorhabditis elegans research but many remain incompletely characterized at the physical level. We have used oligo-array comparative genomic analysis to assess the physical structure of 20 deficiencies and a single duplication of chromosome V. We find that while deletions internal to the chromosome appear ...
Tait Diane M DM Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI 53226, - - 2009
Inherited red-green colour vision defects are quite common, affecting one in 12 males, but are less common in women, affecting about one in 250. Because red-green defects are X-linked, nearly 15 per cent of females are heterozygous carriers of red-green colour deficiency. In addition, about one in 150 females are ...
Salazar Gloria G Department of Cell Biology and Medicine, Emory University, Atlanta, Georgia 30322, - - 2009
The Hermansky-Pudlak syndrome is a disorder affecting endosome sorting. Disease is triggered by defects in any of 15 mouse gene products, which are part of five distinct cytosolic molecular complexes: AP-3, homotypic fusion and vacuole protein sorting, and BLOC-1, -2, and -3. To identify molecular associations of these complexes, we ...
Shimizu Akifumi - - 2008
Root elongation induced by phosphorus deficiency has been reported as one of the adaptive mechanisms in plants. Genetic differences were found in rice for the root elongation under phosphorus deficiency (REP), for which a distinct quantitative trait locus (QTL) was detected on the long arm of chromosome 6. Subsequently, the ...
Brunetti-Pierri Nicola - - 2008
GM(1) gangliosidosis is a lysosomal storage disorder due to deficiency of the beta-galactosidase enzyme. This deficiency results in accumulation of GM(1) gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling, cellular damage, and organ dysfunction. The disease is lethal in the infantile and juvenile forms. To date, up ...
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