213,438 results match your criteria sequences mutations


Analysis of pedigree data and whole-genome sequences in 12 cattle breeds reveals extremely low within-breed Y-chromosome diversity.

Anim Genet 2021 Jun 22. Epub 2021 Jun 22.

ALLICE, Paris, 75012, France.

In this article, we analyzed pedigree information on males from 12 bovine breeds born in France between 2015 and 2019. We report an overall small number of paternal lineages with, for example, a minimal number of ancestors accounting for 95% of the Y-chromosome pool of their breed ranging from only 2 to 15 individuals. Then, we mined whole-genome sequence data from 811 sires (2 ≤ n ≤ 510 per breed) and built a median-joining network using 1411 SNPs. Read More

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Splicing factor mutations in hematologic malignancies.

Blood 2021 Jun 22. Epub 2021 Jun 22.

Memorial Sloan Kettering Cancer Center, New York, New York, United States.

Mutations in genes encoding RNA splicing factors were discovered nearly ten years ago and are now understood to be amongst the most recurrent genetic abnormalities in patients with all forms of myeloid neoplasms and several types of lymphoproliferative disorders as well as subjects with clonal hematopoiesis. These discoveries implicate aberrant RNA splicing, the process by which precursor RNA is converted into mature messenger RNA, in the development of clonal hematopoietic conditions. Both the protein as well as the RNA components of the splicing machinery are affected by mutations at highly specific residues and a number of these mutations alter splicing in a manner distinct from loss of function. Read More

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Development of a genotyping platform for SARS-CoV-2 variants using high-resolution melting analysis.

J Infect Chemother 2021 Jun 12. Epub 2021 Jun 12.

Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-Ku, Nagoya, 468-8503, Japan. Electronic address:

Introduction: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a novel coronavirus causing coronavirus disease 2019 (COVID-19), has been expanding globally since late 2019. SARS-CoV-2, an RNA virus, has a genome sequence that can easily undergo mutation. Several mutated SARS-CoV-2 strains, including those with higher infectivity than others, have been reported. Read More

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Development of a rapid method for site-directed mutagenesis in Streptococcus zooepidemicus.

J Biotechnol 2020 21;324S:100025. Epub 2020 Aug 21.

Contipro a.s., Dolní Dobrouč 401, 561 02, Dolní Dobrouč, Czech Republic.

This paper describes the development of a straightforward method for site-directed gene mutagenesis in Streptococcus zooepidemicus, inspired by the mechanism of natural competence regulated by ComX in other streptococci. An alternative sigma factor comX gene was overexpressed from a plasmid in S. zooepidemicus and electrocompetent cells were prepared. Read More

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Bacteriophage T4 Escapes CRISPR Attack by Minihomology Recombination and Repair.

mBio 2021 Jun 22:e0136121. Epub 2021 Jun 22.

Bacteriophage Medical Research Center, Department of Biology, The Catholic University of America, Washington, DC, USA.

Bacteria and bacteriophages (phages) have evolved potent defense and counterdefense mechanisms that allowed their survival and greatest abundance on Earth. CRISPR (clustered regularly interspaced short palindromic repeat)-Cas (CRISPR-associated) is a bacterial defense system that inactivates the invading phage genome by introducing double-strand breaks at targeted sequences. While the mechanisms of CRISPR defense have been extensively investigated, the counterdefense mechanisms employed by phages are poorly understood. Read More

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Comparative study of predicted miRNA between Indonesia and China (Wuhan) SARS-CoV-2: a bioinformatics analysis.

Genes Genomics 2021 Jun 21. Epub 2021 Jun 21.

Bioinformatics and Data Science Research Center, Bina Nusantara University, Jakarta, 11480, Indonesia.

Background: Several reports on the discovery of SARS-CoV-2 mutations and variations in Indonesia COVID-19 cases led to genomic dysregulation with the first pandemic cases in Wuhan, China. MicroRNA (miRNA) plays an important role in this genetic regulation and contributes to the enhancement of viral RNA binding through the host mRNA.

Objective: This research is aimed to detect miRNA targets of SARS-CoV-2 and examines their role in Indonesia cases against Wuhan cases. Read More

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Alterations of epigenetic regulators and P53 mutations in murine mesenchymal stem cell cultures: A possible mechanism of spontaneous transformation.

Cancer Biomark 2021 Jun 12. Epub 2021 Jun 12.

Division of Gastroenterology, Department of Medicine, University of Massachusetts Medical School, Worcester, MA, USA.

Background: Recent studies demonstrated the involvement of mesenchymal stem/stromal cells (MSCs) in carcinogenesis, but the molecular mechanism behind this transformation is still obscured.

Objective: To screen both the expression levels of polycomb and trithorax epigenetic regulators and TrP53 mutations in early and late MSC culture passages in an attempt to decipher the mechanism of spontaneous transformation.

Methods: The study was conducted on early and late passages of MSC culture model from C57BL/6J mice. Read More

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Hybrid genome assembly of reveals the novel finding of chromosomal integration of an IncFII plasmid carrying a gene.

Access Microbiol 2021 Feb 9;3(2):000189. Epub 2020 Dec 9.

Department of Clinical Microbiology, Christian Medical College, Vellore 632004, India.

Azithromycin is increasingly being used for the treatment of shigellosis despite a lack of interpretative guidelines and with limited clinical evidence. The present study determined azithromycin susceptibility and correlated this with macrolide-resistance genes in spp. isolated from stool specimens in Vellore, India. Read More

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February 2021

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.

Intern Med 2021 Jun 19. Epub 2021 Jun 19.

Department of Neurology, Children's Hospital of Shanghai, Shanghai JiaoTong University, China.

Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism. The diagnosis is thus challenging for patients without this characteristic set of clinical symptoms. Read More

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Genome instability and lymphoma.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 May;46(5):552-557

Cancer Research Institute, School of Basic Medical Science, Central South University, Changsha 410078, China.

Lymphoma is one of the most common malignant tumor of the hematologic system. The genome instability is not only an important molecular basis for the development of lymphoma, but also has important value in the diagnosis and prognosis of lymphoma. There are 2 types of genome instability: Microsatellite instability (MSI/MIN) at gene level and chromosomal instability at chromosome level. Read More

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Exon-1 skipping and intron-1 retaining by alternative splicing of the c-KIT gene encodes a novel splice variant in the skin of Merino sheep (Ovis aries).

Mol Biol Rep 2021 Jun 20. Epub 2021 Jun 20.

School of Biosciences and Veterinary Medicine, University of Camerino, Via Gentile III da Varano, 62032, Camerino, Italy.

c-KIT, a type III receptor protein tyrosine kinase, plays an essential role in melanocyte development, migration, and survival. Mutations within the c-KIT gene are previously shown to cause the white coat color phenotypes in pigs, mice, goats, and humans. However, up so far, the splicing isoform(s), genomic architecture of c-KIT have not been characterized well in merino sheep. Read More

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Analysis of barley mutants ert-c.1 and ert-d.7 reveals two loci with additive effect on plant architecture.

Planta 2021 Jun 20;254(1). Epub 2021 Jun 20.

Department of Biology, Lund University, Sölvegatan 35, 22362, Lund, Sweden.

Main Conclusion: Both mutant ert-c.1 and ert-d.7 carry T2-T3 translocations in the Ert-c gene. Read More

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Detection of SARS-CoV-2 variants requires urgent global coordination.

Int J Infect Dis 2021 Jun 17. Epub 2021 Jun 17.

Computational Bioscience Research Centre (CBRC), King Abdullah University of Science and Technology, Thuwal 23955, Saudi Arabia.

Objectives: We assessed the effort deployed by different nations and territories to sequence SARS-CoV-2 isolates, thus allowing the detection of variants, known and novel, of concern.

Design: We analyzed the sources of over one million full genome sequences of SARS-CoV-2 virus available in the COVID-19 virus Mutation Tracker (CovMT) to determine the number of variants in the RBD region of the genome determining infectivity detected in the various nations and territories.

Results: The number of variants detected increased as the square root of sequencing effort of sequencing effort by nations. Read More

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Global variation in SARS-CoV-2 proteome and its implication in pre-lockdown emergence and dissemination of 5 dominant SARS-CoV-2 clades.

Infect Genet Evol 2021 Jun 18:104973. Epub 2021 Jun 18.

Department of Biotechnology, Indian Institute of Technology Hyderabad, Kandi, Telangana 502285, India. Electronic address:

SARS-CoV-2 is currently causing major havoc worldwide with its efficient transmission and propagation. To track the persistence of the mutations as well as the emergence of new mutations during the early stage of pandemic, a comparative analysis of SARS-CoV-2 whole proteome has been performed by considering manually curated 31,389 whole genome sequences from 84 countries. Among the 7 highly recurring (percentage frequency > 10%) mutations (Nsp2:T85I, Nsp6:L37F, Nsp12:P323L, Spike:D614G, ORF3a:Q57H, Nprotein:R203K and Nprotein: G204R), N protein: R203K and Nprotein: G204R are co-occurring (dependent) mutations and Nsp12:P323L and Spike:D614G often appear simultaneously. Read More

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Next Generation Sequencing of Near-Full Length Genome of Norovirus GII.4 from Botswana.

Virus Res 2021 Jun 17:198491. Epub 2021 Jun 17.

Department of Biological Sciences and Biotechnology, Botswana International University of Science and Technology, Palapye, Botswana. Electronic address:

Noroviruses are highly diverse, with genotype GII.4 causing most epidemics. This study aimed to investigate the evolutionary dynamics of norovirus genogroup GII strains among acutely infected children under 5 years in Botswana, between 2016 and 2018. Read More

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"In-silico analysis of Covid-19 genome sequences of Indian origin: impact of mutations in identification of SARS-Co-V2".

Mol Cell Probes 2021 Jun 16:101748. Epub 2021 Jun 16.

PSG Center for Molecular Medicine & Therapeutics, PSG Institute of Medical Sciences and Research, Coimbatore, Tamil Nadu, 641 004, India; PSG Centre for Genetics and Molecular Biology, Off Avinashi Road, Peelamedu, Coimbatore, Tamil Nadu, 641 004, India. Electronic address:

Covid-19 disease caused by SARS-CoV-2 is still being transmitted in developed and developing countries irrespective of healthcare setups. India with 1.3 billion people in the world is severely affected by Covid-19 with 11. Read More

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Detection of a biolistic delivery of fluorescent markers and CRISPR/Cas9 to the pollen tube.

Plant Reprod 2021 Jun 19. Epub 2021 Jun 19.

Institute of Transformative Bio-Molecules (WPI-ITbM), Nagoya University, Furo-cho, Chikusa-ku, Nagoya, Aichi, 464-8601, Japan.

Key Message: Biolistic delivery into pollen. In recent years, genome editing techniques, such as the CRISPR/Cas9 system, have been highlighted as a new approach to plant breeding. Agrobacterium-mediated transformation has been widely utilized to generate transgenic plants by introducing plasmid DNA containing CRISPR/Cas9 into plant cells. Read More

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Phase Resolution of Heterozygous Sites in Diploid Genomes is Important to Phylogenomic Analysis under the Multispecies Coalescent Model.

Syst Biol 2021 Jun 18. Epub 2021 Jun 18.

Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, UK.

Genome sequencing projects routinely generate haploid consensus sequences from diploid genomes, which are effectively chimeric sequences with the phase at heterozygous sites resolved at random. The impact of phasing errors on phylogenomic analyses under the multispecies coalescent (MSC) model is largely unknown. Here we conduct a computer simulation to evaluate the performance of four phase-resolution strategies (the true phase resolution, the diploid analytical integration algorithm which averages over all phase resolutions, computational phase resolution using the program PHASE, and random resolution) on estimation of the species tree and evolutionary parameters in analysis of multi-locus genomic data under the MSC model. Read More

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Shutting the gate before the horse has bolted: is it time for a conversation about SARS-CoV-2 and antiviral drug resistance?

J Antimicrob Chemother 2021 Jun 18. Epub 2021 Jun 18.

Department of Pharmacology and Therapeutics, Materials Innovation Factory, University of Liverpool, Liverpool, L7 3NY, UK.

This article provides a brief overview of drug resistance to antiviral therapy as well as known and emergent variability in key SARS-CoV-2 viral sequences. The purpose is to stimulate deliberation about the need to consider drug resistance prior to widespread roll-out of antivirals for SARS-CoV-2. Many existing candidate agents have mechanisms of action involving drug targets likely to be critical for future drug development. Read More

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Dyspnoea with progressive "idiopathic" pulmonary fibrosis.

Respirol Case Rep 2021 Jul 6;9(7):e00800. Epub 2021 Jun 6.

Department of Pulmonary Medicine and Critical care Greater Baltimore Medical Center Towson MD USA.

Telomeres are repetitive nucleotide sequences that prevent chromosomal shortening in cell replication. Short telomeres have been implicated in the pathogenesis of interstitial lung disease. Patients with short telomere related pulmonary fibrosis can have computed tomography (CT) findings inconsistent with pro-typical usual interstitial pneumonia/idiopathic pulmonary fibrosis (UIP/IPF) pattern. Read More

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Highly Efficient and Comprehensive Identification of Ethyl Methanesulfonate-Induced Mutations in L. by Whole-Genome and Whole-Exome Sequencing.

Front Plant Sci 2021 1;12:671598. Epub 2021 Jun 1.

Leaf Tobacco Research Center, Japan Tobacco Inc., Oyama, Japan.

Tobacco ( L.) is a complex allotetraploid species with a large 4.5-Gb genome that carries duplicated gene copies. Read More

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Transmitted HIV drug resistance and subtype patterns among blood donors in Poland.

Sci Rep 2021 Jun 17;11(1):12734. Epub 2021 Jun 17.

Institute of Haematology and Transfusion Medicine in Warsaw, Warsaw, Poland.

Surveillance on the HIV molecular variability, risk of drug resistance transmission and evolution of novel viral variants among blood donors remains an understudied aspect of hemovigilance. This nationwide study analyses patterns of HIV diversity and transmitted resistance mutations. Study included 185 samples from the first time and repeat blood donors with HIV infection identified by molecular assay. Read More

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A conserved ZnCys transcription factor, identified in a spontaneous mutant from in vitro passaging, is involved in pathogenicity of the blackleg fungus Leptosphaeria maculans.

Fungal Biol 2021 Jul 25;125(7):541-550. Epub 2021 Feb 25.

School of BioSciences, The University of Melbourne, VIC, 3010, Australia. Electronic address:

Continuous passaging in vitro can lead to the accumulation of changes in DNA sequence that potentially affect the properties of microbes, making them different from the original isolates. The identification of such genetic alterations is rare in fungi. A set of insertional mutants in the plant pathogenic fungus Leptosphaeria maculans, all derived from the same transformation experiment, had independent Agrobacterium T-DNA insertions and reduced pathogenicity on canola (Brassica napus). Read More

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The genomes of precision edited cloned calves show no evidence for off-target events or increased de novo mutagenesis.

BMC Genomics 2021 Jun 17;22(1):457. Epub 2021 Jun 17.

AgResearch, Ruakura Research Centre, Hamilton, New Zealand.

Background: Animal health and welfare are at the forefront of public concern and the agricultural sector is responding by prioritising the selection of welfare-relevant traits in their breeding schemes. In some cases, welfare-enhancing traits such as horn-status (i.e. Read More

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Disulfide bond formation in microtubule-associated tau protein promotes tau accumulation and toxicity in vivo.

Hum Mol Genet 2021 Jun 17. Epub 2021 Jun 17.

Department of Biological Sciences, Graduate School of Science, Tokyo Metropolitan University, Tokyo, Japan.

Accumulation of microtubule-associated tau protein is thought to cause neuron loss in a group of neurodegenerative diseases called tauopathies. In diseased brains, tau molecules adopt pathological structures that propagate into insoluble forms with disease-specific patterns. Several types of posttranslational modifications in tau are known to modulate its aggregation propensity in vitro, but their influence on tau accumulation and toxicity at the whole-organism level has not been fully elucidated. Read More

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A signal capture and proofreading mechanism for the KDEL-receptor explains selectivity and dynamic range in ER retrieval.

Elife 2021 Jun 17;10. Epub 2021 Jun 17.

Department of Biochemistry, University of Oxford, Oxford, United Kingdom.

ER proteins of widely differing abundance are retrieved from the Golgi by the KDEL-receptor. Abundant ER proteins tend to have KDEL rather than HDEL signals, whereas ADEL and DDEL are not used in most organisms. Here, we explore the mechanism of selective retrieval signal capture by the KDEL-receptor and how HDEL binds with ten-fold higher affinity than KDEL. Read More

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Construction of point mutation rabbits using CRISPR/Cas9.

Zhejiang Da Xue Xue Bao Yi Xue Ban 2021 Apr;50(2):229-238

Jiangsu Provincial Research Center for Animal Transgenesis and Biopharming.

To establish a rabbit model of proprotein convertase subtilisin/kexin type9 () point mutation with CRISPR/Cas9 gene editing technique. According to the PubMed gene protein data, the PCSK9 protein functional regions of human and rabbit were analyzed by Blast. The 386S (Ser) amino acid functional region of human gene was homologous to the 485S of rabbit gene. Read More

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Modifying splice site usage with : Maintaining the while changing the underlying .

Comput Struct Biotechnol J 2021 21;19:3069-3076. Epub 2021 May 21.

Institute of Virology, Medical Faculty, Heinrich Heine University Düsseldorf, D-40225 Düsseldorf, Germany.

Codon degeneracy of amino acid sequences permits an additional "mRNP code" layer underlying the genetic code that is related to RNA processing. In pre-mRNA splicing, splice site usage is determined by both intrinsic strength and sequence context providing RNA binding sites for splicing regulatory proteins. In this study, we systematically examined modification of splicing regulatory properties in the neighborhood of a GT site, i. Read More

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Pathogenic effect of Gene Variants in People With Amyotrophic Lateral Sclerosis.

Neurology 2021 Jun 16. Epub 2021 Jun 16.

Department of Human Genetics, University of Utah School of Medicine, SLC, UT.

Objective: To identify novel disease associated loci for amyotrophic lateral sclerosis (ALS), we utilized sequencing data and performed and experiments to demonstrate pathogenicity of mutations identified in .

Methods: We analyzed exome sequences of 87 sporadic ALS patients and 324 controls, with confirmatory sequencing in independent ALS cohorts of >2,800 patients. For the top hit, , a regulator of apoptosis, differentiation, and a binding partner as well as homolog of the tumor suppressor gene we assayed mutation effects using and experiments. Read More

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Rapid identification of mutations caused by fast neutron bombardment in Medicago truncatula.

Plant Methods 2021 Jun 16;17(1):62. Epub 2021 Jun 16.

Guangdong Key Laboratory for Innovative Development and Utilization of Forest Plant Germplasm, College of Forestry and Landscape Architecture, South China Agricultural University, Guangzhou, 510642, Guangdong, China.

Background: Fast neutron bombardment (FNB) is a very effective approach for mutagenesis and has been widely used in generating mutant libraries in many plant species. The main type of mutations of FNB mutants are deletions of DNA fragments ranging from few base pairs to several hundred kilobases, thus usually leading to the null mutation of genes. Despite its efficiency in mutagenesis, identification of the mutation sites is still challenging in many species. Read More

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