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Plos Genetics : Mutations in Cers3 Cause Autosomal Recessive Conge...

By: Andrew O. M. Wilkie

Description : Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same...

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Plos Genetics : Rpos Plays a Central Role in the Sos Induction by ...

By: Diarmaid Hughes

Description : Bacteria encounter sub-inhibitory concentrations of antibiotics in various niches, where these low doses play a key role for antibiotic resistance selection. However, the physiological effects of these sub-lethal concentrations and their observed connection to the cellular mechanisms generating genetic diversification are still poorly understood. It is known that, unlike for the model bacterium Escherichia coli, sub-minimal inhibitory concentrations (sub-MI...

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Plos Genetics : Collapse of Telomere Homeostasis in Hematopoietic ...

By: Gregory S. Barsh

Description : Telomerase activity is readily detectable in extracts from human hematopoietic stem and progenitor cells, but appears unable to maintain telomere length with proliferation in vitro and with age in vivo. We performed a detailed study of the telomere length by flow FISH analysis in leukocytes from 835 healthy individuals and 60 individuals with reduced telomerase activity. Healthy individuals showed a broad range in average telomere length in granulocytes and...

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Plos Genetics : De Novocnv Formation in Mouse Embryonic Stem Cells...

By: John H. J. Petrini

Description : Spontaneous copy number variant (CNV) mutations are an important factor in genomic structural variation, genomic disorders, and cancer. A major class of CNVs, termed nonrecurrent CNVs, is thought to arise by nonhomologous DNA repair mechanisms due to the presence of short microhomologies, blunt ends, or short insertions at junctions of normal and de novo pathogenic CNVs, features recapitulated in experimental systems in which CNVs are induced by exogenous r...

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Plos Genetics : Long Noncoding Rna Malat1 Controls Cell Cycle Prog...

By: Bruce E. Clurman

Description : The long noncoding MALAT1 RNA is upregulated in cancer tissues and its elevated expression is associated with hyperproliferation, but the underlying mechanism is poorly understood. We demonstrate that MALAT1 levels are regulated during normal cell cycle progression. Genome-wide transcriptome analyses in normal human diploid fibroblasts reveal that MALAT1 modulates the expression of cell cycle genes and is required for G1/S and mitotic progression. Depletion...

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Plos Genetics : Spreading of a Prion Domain from Cell-to-cell by V...

By: Tricia R. Serio

Description : Prion proteins can adopt self-propagating alternative conformations that account for the infectious nature of transmissible spongiform encephalopathies (TSEs) and the epigenetic inheritance of certain traits in yeast. Recent evidence suggests a similar propagation of misfolded proteins in the spreading of pathology of neurodegenerative diseases including Alzheimer’s or Parkinson’s disease. Currently there is only a limited number of animal model systems ava...

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Plos Genetics : Differential Regulation of Strand-specific Transcr...

By: John Doebley

Description : Centromeres interact with the spindle apparatus to enable chromosome disjunction and typically contain thousands of tandemly arranged satellite repeats interspersed with retrotransposons. While their role has been obscure, centromeric repeats are epigenetically modified and centromere specification has a strong epigenetic component. In the yeast Schizosaccharomyces pombe, long heterochromatic repeats are transcribed and contribute to centromere function via...

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Plos Genetics : Gamma-tubulin is Required for Bipolar Spindle Asse...

By: Gregory P. Copenhaver

Description : In many animal species the meiosis I spindle in oocytes is anastral and lacks centrosomes. Previous studies of Drosophila oocytes failed to detect the native form of the germline-specific c-tubulin (cTub37C) in meiosis I spindles, and genetic studies have yielded conflicting data regarding the role of cTub37C in the formation of bipolar spindles at meiosis I. Our examination of living and fixed oocytes carrying either a null allele or strong missense mutati...

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Plos Genetics : Something New ; an Interview with Radoje Drmanac, ...

By: Jane Gitschier
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Plos Genetics : Altering a Histone H3K4 Methylation Pathway in Glo...

By: Veronica Van Heyningen

Description : Methylation of specific lysine residues in core histone proteins is essential for embryonic development and can impart active and inactive epigenetic marks on chromatin domains. The ubiquitous nuclear protein PTIP is encoded by the Paxip1 gene and is an essential component of a histone H3 lysine 4 (H3K4) methyltransferase complex conserved in metazoans. In order to determine if PTIP and its associated complexes are necessary for maintaining stable gene expr...

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Plos Genetics : Demographic History of European Populations of Ara...

By: Thomas Bataillon

Description : The model plant species Arabidopsis thaliana is successful at colonizing land that has recently undergone human-mediated disturbance. To investigate the prehistoric spread of A. thaliana, we applied approximate Bayesian computation and explicit spatial modeling to 76 European accessions sequenced at 876 nuclear loci. We find evidence that a major migration wave occurred from east to west, affecting most of the sampled individuals. The longitudinal gradient ...

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Plos Genetics : Evolutionary Convergence on Highly-conserved 39 In...

By: Barbara J. Trask

Description : The presence of spliceosomal introns in eukaryotes raises a range of questions about genomic evolution. Along with the fundamental mysteries of introns’ initial proliferation and persistence, the evolutionary forces acting on intron sequences remain largely mysterious. Intron number varies across species from a few introns per genome to several introns per gene, and the elements of intron sequences directly implicated in splicing vary from degenerate to str...

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Plos Genetics : New Insight Into the History of Domesticated Apple...

By: Rodney Mauricio

Description : The apple is the most common and culturally important fruit crop of temperate areas. The elucidation of its origin and domestication history is therefore of great interest. The wild Central Asian species Malus sieversii has previously been identified as the main contributor to the genome of the cultivated apple (Malus domestica), on the basis of morphological, molecular, and historical evidence. The possible contribution of other wild species present along ...

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Plos Genetics : Serratia Symbiotica from the Aphid Cinara Cedri ; ...

By: Paul M. Richardson

Description : The genome sequencing of Buchnera aphidicola BCc from the aphid Cinara cedri, which is the smallest known Buchnera genome, revealed that this bacterium had lost its symbiotic role, as it was not able to synthesize tryptophan and riboflavin. Moreover, the biosynthesis of tryptophan is shared with the endosymbiont Serratia symbiotica SCc, which coexists with B. aphidicola in this aphid. The whole-genome sequencing of S. symbiotica SCc reveals an endosymbiont ...

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Plos Genetics : a One Base Pair Deletion in the Canine Atp13A2 Gen...

By: Gregory S. Barsh

Description : Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells. Tibetan terriers show a late-onset lethal form of NCL manifesting first visible signs at 5–7 years of age. Genome-wide association analyses for 12 Tibetan-terrier-NCL-cases and 7 Tibetan-terrier controls using...

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Plos Genetics : Irf3 Polymorphism Alters Induction of Interferon B...

By: Derry C. Roopenian

Description : Genetic makeup of the host plays a significant role in the course and outcome of infection. Inbred strains of mice display a wide range of sensitivities to Listeria monocytogenes infection and thus serve as a good model for analysis of the effect of genetic polymorphism. The outcome of L. monocytogenes infection in mice is influenced by the ability of this bacterium to induce expression of interferon beta mRNA, encoded in mouse by the Ifnb1 (interferon beta...

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Plos Genetics : Enhanced Statistical Tests for Gwas in Admixed Pop...

By: Nicholas J. Schork

Description : While genome-wide association studies (GWAS) have primarily examined populations of European ancestry, more recent studies often involve additional populations, including admixed populations such as African Americans and Latinos. In admixed populations, linkage disequilibrium (LD) exists both at a fine scale in ancestral populations and at a coarse scale (admixture-LD) due to chromosomal segments of distinct ancestry. Disease association statistics in admix...

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Plos Genetics : a Role for Autophagy in the Extension of Lifespan ...

By: Stuart K. Kim

Description : In many organisms, dietary restriction appears to extend lifespan, at least in part, by down-regulating the nutrientsensor TOR (Target Of Rapamycin). TOR inhibition elicits autophagy, the large-scale recycling of cytoplasmic macromolecules and organelles. In this study, we asked whether autophagy might contribute to the lifespan extension induced by dietary restriction in C. elegans. We find that dietary restriction and TOR inhibition produce an autophagic ...

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Plos Genetics : Unveiling Novel Reco Distant Orthologues Involved ...

By: Ivan Matic

Description : The generation of a RecA filament on single-stranded DNA is a critical step in homologous recombination. Two main pathways leading to the formation of the nucleofilament have been identified in bacteria, based on the protein complexes mediating RecA loading : RecBCD (AddAB) and RecFOR. Many bacterial species seem to lack some of the components involved in these complexes. The current annotation of the Helicobacter pylori genome suggests that this highly div...

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Plos Genetics : a Pathogenic Mechanism in Huntington’s Disease Inv...

By: Christopher E. Pearson

Description : Huntington’s disease (HD) is an autosomal dominantly inherited disorder caused by the expansion of CAG repeats in the Huntingtin (HTT) gene. The abnormally extended polyglutamine in the HTT protein encoded by the CAG repeats has toxic effects. Here, we provide evidence to support that the mutant HTT CAG repeats interfere with cell viability at the RNA level. In human neuronal cells, expanded HTT exon-1 mRNA with CAG repeat lengths above the threshold for co...

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