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repetitive elements

Alessandra Borgognone, Raúl Castanera, Elaia Muguerza, Antonio G Pisabarro, Lucía Ramírez
Helitrons constitute a superfamily of DNA transposons that were discovered in silico and are widespread in most eukaryotic genomes. They are postulated to mobilize through a "rolling-circle" mechanism, but the experimental evidence of their transposition has been described only recently. Here, we present the inheritance patterns of HELPO1 and HELPO2 helitron families in meiotically derived progeny of the basidiomycete Pleurotus ostreatus. We found distorted segregation patterns of HELPO2 helitrons that led to a strong under-representation of these elements in the progeny...
April 1, 2017: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
ThankGod Echezona Ebenezer, Mark Carrington, Michael Lebert, Steven Kelly, Mark C Field
Euglena gracilis is a major component of the aquatic ecosystem and together with closely related species, is ubiquitous worldwide. Euglenoids are an important group of protists, possessing a secondarily acquired plastid and are relatives to the Kinetoplastidae, which themselves have global impact as disease agents. To understand the biology of E. gracilis, as well as to provide further insight into the evolution and origins of the Kinetoplastidae, we embarked on sequencing the nuclear genome; the plastid and mitochondrial genomes are already in the public domain...
2017: Advances in Experimental Medicine and Biology
James W Cooper, Michael H Wilson, Martijn F L Derks, Sandra Smit, Karl J Kunert, Christopher Cullis, Christine H Foyer
Grain legume improvement is currently impeded by a lack of genomic resources. The paucity of genome information for faba bean can be attributed to the intrinsic difficulties of assembling/annotating its giant (~13 Gb) genome. In order to address this challenge, RNA-sequencing analysis was performed on faba bean (cv. Wizard) leaves. Read alignment to the faba bean reference transcriptome identified 16 300 high quality unigenes. In addition, Illumina paired-end sequencing was used to establish a baseline for genomic information assembly...
April 17, 2017: Journal of Experimental Botany
Ying Yang, Qiang Ye, Kang Li, Zongwei Li, Xiaochen Bo, Zhen Li, Yingchun Xu, Shengqi Wang, Peng Wang, Huipeng Chen, Junzhi Wang
Over the last 50 years, newly described species of Emmonsia-like fungi have been implicated globally as sources of systemic human mycosis (emmonsiosis). Their ability to convert into yeast-like cells capable of replication and extra-pulmonary dissemination during the course of infection differentiates them from classical Emmonsia species. Immunocompromised patients are at highest risk of emmonsiosis and exhibit high mortality rates. In order to investigate the molecular basis for pathogenicity of the newly described Emmonsia species, genomic sequencing and comparative genomic analyses of Emmonsia sp...
2017: Frontiers in Cellular and Infection Microbiology
Amanda C Hall, Lauren A Ostrowski, Violena Pietrobon, Karim Mekhail
Cells have evolved intricate mechanisms to maintain genome stability despite allowing mutational changes to drive evolutionary adaptation. Repetitive DNA sequences, which represent the bulk of most genomes, are a major threat to genome stability often driving chromosome rearrangements and disease. The major source of repetitive DNA sequences and thus the most vulnerable constituents of the genome are the rDNA (rDNA) repeats, telomeres, and transposable elements. Maintaining the stability of these loci is critical to overall cellular fitness and lifespan...
March 4, 2017: Nucleus
Petr Novák, Laura Ávila Robledillo, Andrea Koblížková, Iva Vrbová, Pavel Neumann, Jirí Macas
Satellite DNA is one of the major classes of repetitive DNA, characterized by tandemly arranged repeat copies that form contiguous arrays up to megabases in length. This type of genomic organization makes satellite DNA difficult to assemble, which hampers characterization of satellite sequences by computational analysis of genomic contigs. Here, we present tandem repeat analyzer (TAREAN), a novel computational pipeline that circumvents this problem by detecting satellite repeats directly from unassembled short reads...
April 10, 2017: Nucleic Acids Research
Jérémie Becker, Philippe Pérot, Valérie Cheynet, Guy Oriol, Nathalie Mugnier, Marine Mommert, Olivier Tabone, Julien Textoris, Jean-Baptiste Veyrieras, François Mallet
BACKGROUND: Human endogenous retroviruses (HERVs) have received much attention for their implications in the etiology of many human diseases and their profound effect on evolution. Notably, recent studies have highlighted associations between HERVs expression and cancers (Yu et al., Int J Mol Med 32, 2013), autoimmunity (Balada et al., Int Rev Immunol 29:351-370, 2010) and neurological (Christensen, J Neuroimmune Pharmacol 5:326-335, 2010) conditions. Their repetitive nature makes their study particularly challenging, where expression studies have largely focused on individual loci (De Parseval et al...
April 8, 2017: BMC Genomics
Stefan Dennenmoser, Fritz J Sedlazeck, Elzbieta Iwaszkiewicz, Xiang-Yi Li, Janine Altmüller, Arne W Nolte
Evolutionary dynamics of structural genetic variation in lineages of hybrid origin is not well explored, although structural mutations may increase in controlled hybrid crosses. We therefore tested whether structural variants accumulate in a fish of recent hybrid origin, invasive Cottus, relative to both parental species Cottus rhenanus and Cottus perifretum. Copy number variation in exons of 10,979 genes was assessed using comparative genome hybridization arrays. Twelve genes showed significantly higher copy numbers in invasive Cottus compared to both parents...
April 8, 2017: Molecular Ecology
James A Grange, Agnieszka W Kowalczyk, Rory O'Loughlin
Inhibition in task switching is inferred from n-2 repetition costs: the observation that ABA task switching sequences are responded to slower than CBA sequences. This is thought to reflect the persisting inhibition of Task A, which slows reactivation attempts. Mayr (2002) reported an experiment testing a critical noninhibitory account of this effect, namely episodic retrieval: If the trial parameters for Task A match across an ABA sequence, responses should be facilitated because of priming from episodic retrieval; a cost would occur if trial parameters mismatch...
April 6, 2017: Journal of Experimental Psychology. Human Perception and Performance
Daniel E Khost, Danna G Eickbush, Amanda M Larracuente
Highly repetitive satellite DNA (satDNA) repeats are found in most eukaryotic genomes. SatDNAs are rapidly evolving and have roles in genome stability and chromosome segregation. Their repetitive nature poses a challenge for genome assembly and makes progress on the detailed study of satDNA structure difficult. Here, we use single-molecule sequencing long reads from Pacific Biosciences (PacBio) to determine the detailed structure of all major autosomal complex satDNA loci in Drosophila melanogaster, with a particular focus on the 260-bp and Responder satellites...
April 3, 2017: Genome Research
Amy Knight Johnson, Gerald Bradley Schaefer, Jennifer Lee, Ying Hu, Daniela Del Gaudio
CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six molecularly confirmed cases of CHIME syndrome have been reported. Here, we report the seventh patient with biallelic PIGL mutations associated with CHIME syndrome and describe the first characterization of an intragenic deletion in PIGL. Our characterization of the deletion breakpoint junction demonstrated that the breakpoints occurred within Alu repeats and the deletion was most likely mediated by a microhomology event...
March 28, 2017: American Journal of Medical Genetics. Part A
Kannika Sukkua, Somruthai Manothong, Pharanai Sukhumungoon
INTRODUCTION: Several Escherichia coli pathotypes have been reported in Thailand; however, information on enteroaggregative heat-stable enterotoxin 1 (EAST1)-carrying E. coli (EAST1-EC) is insufficient. Previous reports show that consumption of raw meats causes diarrheagenic E. coli infections. In this study, we investigated the seroprevalence and genetic relationship of EAST1-EC from clinical and raw meat samples. METHODOLOGY: Diarrheal patients and raw meat samples were investigated for the presence of EAST1-EC by performing polymerase chain reaction (PCR) to detect astA...
March 31, 2017: Journal of Infection in Developing Countries
Jing Shen, Jun Chen, Peter Ruhdal Jensen, Christian Solem
Fine-tuning the expression level of multiple genes is usually pivotal for metabolic optimization. We have developed a tool for this purpose for the important industrial workhorse Corynebacterium glutamicum that allows for the introduction of synthetic promoter-driven expression libraries of arbitrary genes. We first devised a method for introducing genetic elements into the chromosome repeatedly, relying on site-specific recombinases and the vector pJS31 serving as the carrier. The pJS31 vector contains a synthetic cassette including a phage attachment site attP for integration, a bacterial attachment site attB for subsequent integration, a multiple cloning site, and two modified loxP sites to facilitate easy removal of undesirable vector elements...
March 30, 2017: Applied Microbiology and Biotechnology
Ivanete de Oliveira Furo, Rafael Kretschmer, Michelly S Dos Santos, Carlos A de Lima Carvalho, Ricardo J Gunski, Patrícia C M O'Brien, Malcolm A Ferguson-Smith, Marcelo B Cioffi, Edivaldo H C de Oliveira
Here, for the first time, we describe the karyotype of Myiopsitta monachus (Psittacidae, Arini). We found 2n = 48, corresponding to the lowest diploid number observed in Neotropical Psittaciformes so far, with an uncommonly large W chromosome homomorphic to the Z. In order to better understand the evolution of the sex chromosomes in this species, we applied several molecular cytogenetic approaches, including C-banding, FISH mapping of repetitive DNAs (several microsatellite repeats), and whole-chromosome painting on metaphases of M...
March 31, 2017: Cytogenetic and Genome Research
Gangning Liang, Daniel J Weisenberger
DNA methylation aberrancies are hallmarks of human cancers and are characterized by global DNA hypomethylation of repetitive elements and non-CpG rich regions concomitant with locus-specific DNA hypermethylation. DNA methylation changes may result in altered gene expression profiles, most notably the silencing of tumor suppressors, microRNAs, endogenous retorviruses and tumor antigens due to promoter DNA hypermethylation, as well as oncogene upregulation due to gene-body DNA hypermethylation. Here, we review DNA methylation aberrancies in human cancers, their use in cancer surveillance and the interplay between DNA methylation and histone modifications in gene regulation...
March 30, 2017: Epigenetics: Official Journal of the DNA Methylation Society
Zhihong Ma, Xianglong Kong, Shufeng Liu, Shuxian Yin, Yuehua Zhao, Chao Liu, Zhanjun Lv, Xiufang Wang
Alu elements in the human genome are present in more than one million copies, accounting for 10% of the genome. However, the biological functions of most Alu repeats are unknown. In this present study, we detected the effects of Alu elements on EGFP gene expression using a plasmid system to find the roles of Alu elements in human genome. We inserted 5'-4TMI-Alus-CMV promoter-4TMI-Alus (or antisense Alus)-3' sequences into the pEGFP-C1 vector to construct expression vectors. We altered the copy number of Alus, the orientation of the Alus, and the presence of an enhancer (4TMI) in the inserted 5'-4TMI-Alus-CMV promoter-4TMI-Alus (or antisense Alus)-3' sequences...
March 29, 2017: Molecular Genetics and Genomics: MGG
Tuğçe Aktaş, İbrahim Avşar Ilık, Daniel Maticzka, Vivek Bhardwaj, Cecilia Pessoa Rodrigues, Gerhard Mittler, Thomas Manke, Rolf Backofen, Asifa Akhtar
Transposable elements are viewed as 'selfish genetic elements', yet they contribute to gene regulation and genome evolution in diverse ways. More than half of the human genome consists of transposable elements. Alu elements belong to the short interspersed nuclear element (SINE) family of repetitive elements, and with over 1 million insertions they make up more than 10% of the human genome. Despite their abundance and the potential evolutionary advantages they confer, Alu elements can be mutagenic to the host as they can act as splice acceptors, inhibit translation of mRNAs and cause genomic instability...
April 6, 2017: Nature
Roman V Briskine, Kentaro K Shimizu
BACKGROUND: Whole genome resequencing projects may implement variant calling using draft reference genomes assembled de novo from short-read libraries. Despite lower quality of such assemblies, they allowed researchers to extend a wide range of population genetic and genome-wide association analyses to non-model species. As the variant calling pipelines are complex and involve many software packages, it is important to understand inherent biases and limitations at each step of the analysis...
March 28, 2017: BMC Genomics
Christophe Papin, Abdulkhaleg Ibrahim, Stephanie Le Gras, Amandine Velt, Bernard Jost, Isabelle Stoll, Hervé Menoni, Christian Bronner, Stefan Dimitrov, Ali Hamiche
DNA methylation is an essential epigenetic modification, present in both unique DNA sequences and repetitive elements, but its exact function in repetitive elements remains obscure. Here, we describe the genome-wide comparative analysis of the 5mC, 5hmC, 5fC and 5caC profiles of repetitive elements in mouse embryonic fibroblasts and mouse embryonic stem cells. We provide evidence for distinct and highly specific DNA methylation/oxidation patterns of the repetitive elements in both cell types, which mainly affect CA repeats and evolutionary conserved mouse-specific transposable elements including IAP-LTRs, SINEs B1m/B2m and L1Md-LINEs...
March 27, 2017: Genome Research
Luiz A Cauz-Santos, Carla F Munhoz, Nathalie Rodde, Stephane Cauet, Anselmo A Santos, Helen A Penha, Marcelo C Dornelas, Alessandro M Varani, Giancarlo C X Oliveira, Hélène Bergès, Maria Lucia C Vieira
The family Passifloraceae consists of some 700 species classified in around 16 genera. Almost all its members belong to the genus Passiflora. In Brazil, the yellow passion fruit (Passiflora edulis) is of considerable economic importance, both for juice production and consumption as fresh fruit. The availability of chloroplast genomes (cp genomes) and their sequence comparisons has led to a better understanding of the evolutionary relationships within plant taxa. In this study, we obtained the complete nucleotide sequence of the P...
2017: Frontiers in Plant Science
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