26,322 results match your criteria encoding mutant


Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors.

JCI Insight 2021 Jun 22. Epub 2021 Jun 22.

Weill Cornell Autism Research Program, Weil Cornell Medical College, New York, United States of America.

SCN2A, encoding the neuronal voltage-gated Na+ channel NaV1.2, is one of the most commonly affected loci linked to autism spectrum disorders (ASDs). Most ASD-associated mutations in SCN2A are loss-of-function, but studies examining how such mutations affect neuronal function and whether Scn2a mutant mice display ASD endophenotypes have been inconsistent. Read More

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Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases.

J Cell Sci 2021 Jun 22. Epub 2021 Jun 22.

Department of Medicine, Nephrology Division, Massachusetts General Hospital, 149 13th Street, Charlestown, MA, 02129, USA.

Mutations in CEP290, a large multidomain coiled coil protein, are associated with multiple cilia-associated syndromes. Over 130 CEP290 mutations have been linked to a wide spectrum of human ciliopathies, raising the question of how mutations in a single gene cause different disease syndromes. In zebrafish the expressivity of cep290 deficiencies were linked to the type of genetic ablation: acute cep290 morpholino knockdown caused severe cilia-related phenotypes while defects in a Crispr/Cas9 genetic mutant were restricted to photoreceptor defects. Read More

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Photosynthesis-independent production of reactive oxygen species in the rice bundle sheath during high light is mediated by NADPH oxidase.

Proc Natl Acad Sci U S A 2021 Jun;118(25)

Department of Plant Sciences, University of Cambridge, Cambridge CB2 3EA, United Kingdom;

When exposed to high light, plants produce reactive oxygen species (ROS). In , local stress such as excess heat or light initiates a systemic ROS wave in phloem and xylem cells dependent on NADPH oxidase/respiratory burst oxidase homolog (RBOH) proteins. In the case of excess light, although the initial local accumulation of ROS preferentially takes place in bundle-sheath strands, little is known about how this response takes place. Read More

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Recent updates in thoracic SMARCA4-deficient undifferentiated tumor.

Semin Diagn Pathol 2021 Jun 4. Epub 2021 Jun 4.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India. Electronic address:

Germline inactivating mutations in SMARCA4 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4) gene encoding for BRG1 (Brahma related gene-1) are the molecular drivers in small cell carcinoma of ovary, hypercalcemic type (SCCOHT) and in malignant rhabdoid tumors (MRT) that occur in the context of rhabdoid tumor predisposition syndrome-type 2. Somatic SMARCA4 mutations and/or loss of BRG1 have been identified in a variety of adult-onset epithelial and mesenchymal neoplasms. Among thoracic tumors, these include subsets of smoking-related non-small cell lung carcinoma (NSCLC) and a relatively rare, newly recognised tumor entity: thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT). Read More

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K and its role in virulence of Acinetobacter baumannii.

Int J Med Microbiol 2021 Jun 10;311(5):151516. Epub 2021 Jun 10.

Department of Molecular Microbiology & Bioenergetics, Institute of Molecular Biosciences, Goethe-University Frankfurt am Main, Germany. Electronic address:

Acinetobacter baumannii is an opportunistic human pathogen that has become a global threat to healthcare institutions worldwide. The success of A. baumannii is based on the rise of multiple antibiotic resistances and its outstanding potential to persist in the human host and under conditions of low water activity in hospital environments. Read More

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Protein phosphatase 2A holoenzymes regulate leucine-rich repeat kinase 2 phosphorylation and accumulation.

Neurobiol Dis 2021 Jun 15:105426. Epub 2021 Jun 15.

Université de Lille, Inserm, CHU Lille, UMR-S1172, LilNCog, Lille Neuroscience & Cognition, 59000 Lille, France; Inserm, UMR-S 1172, Team "Brain Biology and Chemistry", 59000 Lille, France; KU Leuven, Laboratory for Neurobiology and Gene Therapy, Department of Neurosciences, 3000 Leuven, Belgium. Electronic address:

LRRK2 is a highly phosphorylated multidomain protein and mutations in the gene encoding LRRK2 are a major genetic determinant of Parkinson's disease (PD). Dephosphorylation at LRRK2's S910/S935/S955/S973 phosphosite cluster is observed in several conditions including in sporadic PD brain, in several disease mutant forms of LRRK2 and after pharmacological LRRK2 kinase inhibition. However, the mechanism of LRRK2 dephosphorylation is poorly understood. 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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Surfactant protein C mutation links postnatal type 2 cell dysfunction to adult disease.

JCI Insight 2021 Jun 17. Epub 2021 Jun 17.

Divisions of Neonatology and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, United States of America.

Mutations in the gene (SFTPC) encoding surfactant protein C (SP-C) are associated with interstitial lung disease in children and adults. To assess the natural history of disease, we knocked-in a familial, disease-associated SFTPC mutation, L188Q [L184Q (LQ) in mice], into the mouse Sftpc locus. Translation of the mutant proprotein, proSP-CLQ, exceeded that of proSP-CWT in neonatal alveolar type 2 epithelial (AT2) cells and was associated with transient activation of oxidative stress and apoptosis leading to impaired expansion of AT2 cells during postnatal alveolarization. Read More

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Attenuated strain of CVB3 with a mutation in the CAR-interacting region protects against both myocarditis and pancreatitis.

Sci Rep 2021 Jun 14;11(1):12432. Epub 2021 Jun 14.

School of Veterinary Medicine and Biomedical Sciences, University of Nebraska-Lincoln, Lincoln, NE, 68583, USA.

Coxsackievirus B3 (CVB3), is commonly implicated in myocarditis, which can lead to dilated cardiomyopathy, in addition to causing acute pancreatitis and meningitis. Yet, no vaccines are currently available to prevent this infection. Here, we describe the derivation of a live attenuated vaccine virus, termed mutant (Mt) 10, encoding a single amino acid substitution H790A within the viral protein 1, that prevents CVB3 infection in mice and protects from both myocarditis and pancreatitis in challenge studies. Read More

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Parkinson's disease-associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy.

Transl Neurodegener 2021 Jun 15;10(1):19. Epub 2021 Jun 15.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Background: Mitochondrial dysfunction plays a prominent role in the pathogenesis of Parkinson's disease (PD), and several genes linked to familial PD, including PINK1 (encoding PTEN-induced putative kinase 1 [PINK1]) and PARK2 (encoding the E3 ubiquitin ligase Parkin), are directly involved in processes such as mitophagy that maintain mitochondrial health. The dominant p.D620N variant of vacuolar protein sorting 35 ortholog (VPS35) gene is also associated with familial PD but has not been functionally connected to PINK1 and PARK2. Read More

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Acetate overflow metabolism regulates a major metabolic shift after glucose depletion in Escherichia coli.

FEBS Lett 2021 Jun 14. Epub 2021 Jun 14.

Laboratory for Chemistry and Life Science, Institute of Innovative Research, Tokyo Institute of Technology, Yokohama, Japan.

Acetate overflow refers to the metabolism by which a large part of carbon incorporated as glucose into Escherichia coli cells is catabolized and excreted as acetate into the medium. We previously found that mutants for the acetate overflow pathway enzymes phosphoacetyltransferase (Pta) and acetate kinase (AckA) showed significant diauxic growth after glucose depletion in E. coli. Read More

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A novel mutant allele at the Cleistogamy 1 locus in barley.

Theor Appl Genet 2021 Jun 14. Epub 2021 Jun 14.

Institute of Crop Science, National Agriculture and Food Research Organization (NARO), 2-1-2 Kannondai, Tsukuba, Ibaraki, 305-8602, Japan.

Key Message: A chasmogamous mutant was induced by exposing a cleistogamous cultivar to sodium azide. The altered cly1 sequence in the mutant was not in the miR172 binding site, as is the case in other known cleistogamous alleles, but rather in a region encoding one of the gene product's two AP2 domains. The genetic basis of cleistogamy (in which pollination occurs before the flower opens) in barley is centered on the Cleistogamy 1 locus (cly1). Read More

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Functional insights into the high-molecular-mass penicillin-binding proteins of revealed by gene deletion and transposon mutagenesis analysis.

J Bacteriol 2021 Jun 14:JB0023421. Epub 2021 Jun 14.

Center for Molecular and Translational Human Infectious Diseases Research, Houston Methodist Research Institute, and Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, Texas, USA.

High-molecular-mass penicillin-binding proteins (PBPs) are enzymes that catalyze the biosynthesis of bacterial cell wall peptidoglycan. The Gram-positive bacterial pathogen (group B , or GBS) produces five high-molecular-mass PBPs, namely, PBP1A, PBP1B, PBP2A, PBP2B, and PBP2X. Among these, only PBP2X is essential for cell viability, whereas the other four PBPs are individually dispensable. Read More

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A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-weber syndrome.

Hum Mol Genet 2021 Jun 14. Epub 2021 Jun 14.

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterised by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causing somatic missense mutation in the GNAQ gene, encoding an alpha chain of heterotrimeric G-proteins, has initiated efforts to understand how G-proteins contribute to SWS pathogenesis. The mutation is predominantly detected in endothelial cells and is currently believed to affect downstream MAPK-signalling. Read More

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BnA1.CER4 and BnC1.CER4 are redundantly involved in branched primary alcohols in the cuticle wax of Brassica napus.

Theor Appl Genet 2021 Jun 12. Epub 2021 Jun 12.

National Key Laboratory of Crop Genetic Improvement, National Center of Rapeseed Improvement, Huazhong Agricultural University, Wuhan, 430070, China.

Key Message: The mutations BnA1.CER4 and BnC1.CER4 produce disordered wax crystals types and alter the composition of epidermal wax, causing increased cuticular permeability and sclerotium resistance. Read More

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Carbamoyl Phosphate Synthase Subunit CgCPS1 Is Necessary for Virulence and to Regulate Stress Tolerance in Colletotrichum gloeosporioides.

Plant Pathol J 2021 Jun 1;37(3):232-242. Epub 2021 Jun 1.

Department of Biotechnology, Mirpur University of Science and Technology (MUST), Mirpur 10250, AJK, Pakistan.

Glomerella leaf spot (GLS) is a severe infectious disease of apple whose infective area is growing gradually and thus poses a huge economic threat to the world. Different species of Colletotrichum including Colletotrichum gloeosporioides are responsible for GLS. For efficient GLS control, it is important to understand the mechanism by which the cruciferous crops and C. Read More

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Mass cytometry and transcriptomic profiling reveal body-wide pathology induced by Loxl1 deficiency.

Cell Prolif 2021 Jun 9:e13077. Epub 2021 Jun 9.

Clinical Research Center, The First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Objective: The loss of LOXL1 expression reportedly leads to the prolapse of pelvic organs or to exfoliation syndrome glaucoma. Increasing evidence suggests that LOXL1 deficiency is associated with the pathogenesis of several other diseases. However, the characterization of the systemic functions of LOXL1 is limited by the lack of relevant investigative technologies. Read More

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Generation of neoantigen-specific T cells for adoptive cell transfer for treating head and neck squamous cell carcinoma.

Oncoimmunology 2021 May 25;10(1):1929726. Epub 2021 May 25.

Cytotherapy Laboratory, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology), Shenzhen Guangdong, China.

Adoptive cell therapy using TCR-engineered T cells (TCR-T cells) represents a promising strategy for treating relapsed and metastatic cancers. We previously established methods to identify neoantigen-specific TCRs based on patients' PBMCs. However, in clinical practice isolation of PBMCs from advanced-stage cancer patients proves to be difficult. Read More

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Association analysis of 374T/A (rs1800624) receptor for advanced glycation end-products (RAGE) gene polymorphism with diabetic retinopathy in Pakistani patients.

Pak J Med Sci 2021 May-Jun;37(3):733-739

Prof. Dr. Abdul Khaliq Naveed, FCPS, PhD. Department of Biochemistry, Riphah International University, Islamabad, Pakistan.

Objectives: to determine the relationship of 374T/A (rs1800624) polymorphism in the gene encoding RAGE with Type-2 diabetes mellitus (T2DM), diabetic retinopathy (DR) and serum soluble RAGE (sRAGE) level in Pakistani patients.

Methods: A case-control study, conducted from January 2017 to December 2018, involving 150 healthy controls (HC), 150 T2DM patients with no retinopathy (DNR) and 150 DR patients diagnosed by coloured fundus photography. Tetra-primer amplification refractory mutation system - polymerase chain reaction (T-ARMS-PCR) was used for genotyping. Read More

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A TonB-Like Protein, SjdR, Is Involved in the Structural Definition of the Intercellular Septa in the Heterocyst-Forming Cyanobacterium .

mBio 2021 Jun 8:e0048321. Epub 2021 Jun 8.

Institute for Molecular Biosciences, Goethe University Frankfurt, Frankfurt am Main, Germany.

Cyanobacteria are photosynthetic organisms with a Gram-negative envelope structure. Certain filamentous species such as sp. strain PCC 7120 can fix dinitrogen upon depletion of combined nitrogen. Read More

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Start codon disruption with CRISPR/Cas9 prevents murine Fuchs' endothelial corneal dystrophy.

Elife 2021 Jun 8;10. Epub 2021 Jun 8.

Phil and Penny Knight Campus for Accelerating Scientific Impact, University of Oregon, Eugene, OR, United States.

A missense mutation of collagen type VIII alpha 2 chain () gene leads to early-onset Fuchs' endothelial corneal dystrophy (FECD), which progressively impairs vision through the loss of corneal endothelial cells. We demonstrate that CRISPR/Cas9-based postnatal gene editing achieves structural and functional rescue in a mouse model of FECD. A single intraocular injection of an adenovirus encoding both the Cas9 gene and guide RNA (Ad-Cas9-Col8a2gRNA) efficiently knocked down mutant expression in corneal endothelial cells, prevented endothelial cell loss, and rescued corneal endothelium pumping function in adult mutant mice. Read More

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Novel biallelic loss-of-function mutations in cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.

Asian J Androl 2021 May 28. Epub 2021 May 28.

First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei 230027, China.

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g. Read More

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Analysis of the Oxidative Stress Regulon Identifies as a Genetic Target for Resistance Reversal in Multidrug-Resistant Klebsiella pneumoniae.

mBio 2021 Jun 8:e0086721. Epub 2021 Jun 8.

UCD-Centre for Food Safety, UCD School of Public Health, Physiotherapy and Sports Science, University College Dublin, Dublin, Ireland.

In bacteria, the defense system deployed to counter oxidative stress is orchestrated by three transcriptional factors, SoxS, SoxR, and OxyR. Although the regulon that these factors control is known in many bacteria, similar data are not available for Klebsiella pneumoniae. To address this data gap, oxidative stress was artificially induced in K. Read More

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A mutation in CsHY2 encoding a phytochromobilin (PΦB) synthase leads to an elongated hypocotyl 1(elh1) phenotype in cucumber (Cucumis sativus L.).

Theor Appl Genet 2021 Jun 6. Epub 2021 Jun 6.

College of Horticulture, Northwest A&F University, Yangling, 712100, Shaanxi, China.

Key Message: The elongated hypocotyl1 (elh1) mutant in cucumber is due to a mutation in CsHY2, which is a homolog of the Arabidopsis HY2 encoding the phytochromobilin (PΦB) synthase for phytochrome biosynthesis Hypocotyl length is a critical determinant in establishing high quality seedlings for successful cucumber production, but knowledge on the molecular regulation of hypocotyl growth in cucumber is very limited. Here, we reported identification and characterization of a cucumber elongated hypocotyl 1 (elh1) mutant. We found that the longer hypocotyl in elh1 was due to longitudinal growth of hypocotyl cells. Read More

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A Single Nucleotide Substitution of GSAM Gene Causes Massive Accumulation of Glutamate 1-Semialdehyde and Yellow Leaf Phenotype in Rice.

Rice (N Y) 2021 Jun 5;14(1):50. Epub 2021 Jun 5.

State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China, Sichuan Agricultural University, Chengdu, 611130, China.

Background: Tetrapyrroles play indispensable roles in various biological processes. In higher plants, glutamate 1-semialdehyde 2,1-aminomutase (GSAM) converts glutamate 1-semialdehyde (GSA) to 5-aminolevulinic acid (ALA), which is the rate-limiting step of tetrapyrrole biosynthesis. Up to now, GSAM genes have been successively identified from many species. Read More

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Strigolactones regulate arsenate uptake, vacuolar-sequestration and antioxidant defense responses to resist arsenic toxicity in rice roots.

J Hazard Mater 2021 08 5;415:125589. Epub 2021 Mar 5.

Stress Adaptation Research Unit, RIKEN Center for Sustainable Resource Science, 1-7-22, Suehiro-cho, Tsurumi, Yokohama, Kanagawa 230-0045, Japan; Institute of Research and Development, Duy Tan University, 03 Quang Trung, Da Nang 550000, Vietnam; Institute of Genomics for Crop Abiotic Stress Tolerance, Department of Plant and Soil Science, Texas Tech University, Lubbock 79409, TX, USA. Electronic address:

We explored genetic evidence for strigolactones' role in rice tolerance to arsenate-stress. Comparative analyses of roots of wild-type (WT) and strigolactone-deficient mutants d10 and d17 in response to sodium arsenate (NaAsO) revealed differential growth inhibition [WT (11.28%) vs. Read More

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Characterization of Brassica rapa metallothionein and phytochelatin synthase genes potentially involved in heavy metal detoxification.

PLoS One 2021 4;16(6):e0252899. Epub 2021 Jun 4.

International Research Center for Environmental Membrane Biology, Department of Horticulture, Foshan University, Foshan, Guangdong, China.

Brassica rapa is an important leafy vegetable that can potentially accumulate high concentrations of cadmium (Cd), posing a risk to human health. The aim of the present study was to identify cadmium detoxifying molecular mechanisms in B. rapa using a functional cloning strategy. Read More

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Composition and function of the C1b/C1f region in the ciliary central apparatus.

Sci Rep 2021 Jun 3;11(1):11760. Epub 2021 Jun 3.

Laboratory of Cytoskeleton and Cilia Biology, Nencki Institute of Experimental Biology Polish Academy of Sciences, 3 Pasteur Street, 02-093, Warsaw, Poland.

Motile cilia are ultrastructurally complex cell organelles with the ability to actively move. The highly conserved central apparatus of motile 9 × 2 + 2 cilia is composed of two microtubules and several large microtubule-bound projections, including the C1b/C1f supercomplex. The composition and function of C1b/C1f subunits has only recently started to emerge. Read More

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A ribonucleoprotein transfection strategy for CRISPR/Cas9-mediated gene editing and single cell cloning in rainbow trout cells.

Cell Biosci 2021 Jun 3;11(1):103. Epub 2021 Jun 3.

Eawag, Swiss Federal Institute of Aquatic Science and Technology, 8600, Dübendorf, Switzerland.

Background: The advent of the Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 technology marked the beginning of a new era in the field of molecular biology, allowing the efficient and precise creation of targeted mutations in the genome of every living cell. Since its discovery, different gene editing approaches based on the CRISPR/Cas9 technology have been widely established in mammalian cell lines, while limited knowledge is available on genetic manipulation in fish cell lines. In this work, we developed a strategy to CRISPR/Cas9 gene edit rainbow trout (Oncorhynchus mykiss) cell lines and to generate single cell clone-derived knock-out cell lines, focusing on the phase I biotransformation enzyme encoding gene, cyp1a1, and on the intestinal cell line, RTgutGC, as example. Read More

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FLA14 is required for pollen development and preventing premature pollen germination under high humidity in Arabidopsis.

BMC Plant Biol 2021 Jun 3;21(1):254. Epub 2021 Jun 3.

Institute of Life Sciences, College of Life and Environmental Science, Wenzhou University, Wenzhou, 325000, China.

Background: As an important subfamily of arabinogalactan proteins (AGPs), fasciclin-like AGPs (FLAs) contribute to various aspects of growth, development and adaptation, yet their function remains largely elusive. Despite the diversity of FLAs, only two members, Arabidopsis FLA3 and rice MTR1, are reported to be involved in sexual reproduction. In this study, another Arabidopsis FLA-encoding gene, FLA14, was identified, and its role was investigated. Read More

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