Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism.

Abstract:

:Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with impairments in social communication, restricted, repetitive and stereotyped behaviors. Both genetic and environmental factors are known to contribute toward pathophysiology of Autism. Environmental influences on gene expression can be mediated by methylation patterns which are established and maintained by DNA methyltransferases. Several studies in the past have investigated the role of global methylations in Autism. The present study is aimed to investigate the role of genetic variations in the DNA methyltransferase which might be critical in defining the threshold for environmental factors toward susceptibility to autism. Polymorphisms in DNA methyltransferases, DNMT1, DNMT3A, DNMT3B, and DNMT3L were screened for association with ASD in 180 autistic patients and 260 healthy controls from a south Indian population. DNMT1 rs10418707 and rs10423341, and DNMT3A rs2289195 were found to be significantly associated at genotypic and allelic level with ASD. Functional prediction indicates that these SNPs have a role in transcriptional regulation and increased expression, indicating that hypermethylation might be induced by its genotype status. The study might reflect the role of genetics variants in DNMTs in defining the threshold of environmental impact in influencing the disease or phenotype variations in ASD. © 2019 IUBMB Life, 2019.

journal_name

IUBMB Life

journal_title

IUBMB life

authors

Alex AM,Saradalekshmi KR,Shilen N,Suresh PA,Banerjee M

doi

10.1002/iub.2021

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

901-907

issue

7

eissn

1521-6543

issn

1521-6551

journal_volume

71

pub_type

杂志文章
  • Molecular analysis of the Saccharomyces cerevisiae YHR076w gene.

    abstract::Our results demonstrate that open reading frame (ORF) YHR076w on chromosome VIII of Saccharomyces cerevisiae that was previously described as a hypothetical gene is expressed. This ORF is transcribed as an mRNA of approximately 1,100 nucleotides. A 41.2-kDa polypeptide and three others predicted to be modified forms o...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1080/713803741

    authors: Ramos CW,Güldener U,Klein S,Hegemann JH,Gonzalez S,Rodríguez-Medina JR

    更新日期:2000-12-01 00:00:00

  • SMC proteins at the crossroads of diverse chromosomal processes.

    abstract::How should a protein be designed to serve in processes as diverse as chromosome condensation, sister chromatid cohesion, DNA recombination, gene dosage regulation, and perhaps even gene silencing or transcriptional regulation--which occur in both mitosis and meiosis? Such a protein or protein complex needs to bear DNA...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1080/15216540310001639661

    authors: Jessberger R

    更新日期:2003-12-01 00:00:00

  • What is the nature of the mitochondrial permeability transition pore and what is it not?

    abstract::Since about 60 years a phenomenon now called permeability transition is known in mitochondria. It involves a large pore in the inner mitochondrial membrane, the permeability transition pore (PTP) whose molecular structure is still unknown. Year after year, new hypotheses have been developed how this pore could look li...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1130

    authors: Siemen D,Ziemer M

    更新日期:2013-03-01 00:00:00

  • Calcium-regulated mitochondrial ATP-Mg/Pi carriers evolved from a fusion of an EF-hand regulatory domain with a mitochondrial ADP/ATP carrier-like domain.

    abstract::The mitochondrial ATP-Mg/Pi carrier is responsible for the calcium-dependent regulation of adenosine nucleotide concentrations in the mitochondrial matrix, which allows mitochondria to respond to changing energy requirements of the cell. The carrier is expressed in mitochondria of fungi, plants and animals and belongs...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1931

    authors: Harborne SPD,Kunji ERS

    更新日期:2018-12-01 00:00:00

  • Human heart cytosolic reductases and anthracycline cardiotoxicity.

    abstract::Anthracyclines are a class of antitumor drugs widely used for the treatment of a variety of malignancy, including leukemias, lymphomas, sarcomas, and carcinomas. Different mechanisms have been proposed for anthracycline antitumor effects including free-radical generation, DNA intercalation/binding, activation of signa...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1080/15216540252774829

    authors: Mordente A,Meucci E,Martorana GE,Giardina B,Minotti G

    更新日期:2001-07-01 00:00:00

  • Diagnostic evaluation of apoptosis inhibitory gene and tissue inhibitor matrix metalloproteinase-2 in patients with bladder cancer.

    abstract::Bladder carcinoma is an important worldwide health problem. Both cystoscopy and urine cytology used in detecting bladder cancer suffer from drawbacks where cystoscopy is an invasive method and urine cytology shows low sensitivity in low-grade tumors. This study validates easier and less time-consuming techniques for t...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.325

    authors: Eissa S,Shabayek MI,Ismail MF,El-Allawy RM,Hamdy MA

    更新日期:2010-05-01 00:00:00

  • Human serum and milk albumins are metal-dependent DNases.

    abstract::It is known that that human serum albumin (HSA) and alpha-lactalbumin (LA) possess DNA-binding sites. Electrophoretically homogeneous HSA and LA containing no canonical enzymes were isolated from human sera and milk. Here we have analyzed for the first time the possibility of DNA hydrolysis by these proteins. It was s...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1741

    authors: Soboleva SE,Guschina TA,Nevinsky GA

    更新日期:2018-06-01 00:00:00

  • Cell-free synthesis of 15N-labeled proteins for NMR studies.

    abstract::Modern cell-free in vitro protein synthesis systems present powerful tools for the synthesis of isotope-labeled proteins in high yields. The production of selectively 15 N-labeled proteins from 15 N-labeled amino acids is particularly economic and yields are often sufficient to analyze the proteins very quickly by two...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1080/15216540500217859

    authors: Ozawa K,Dixon NE,Otting G

    更新日期:2005-09-01 00:00:00

  • Gastrointestinal methionine shuttle: Priority handling of precious goods.

    abstract::Methionine (Met) is a neutral, sulfur-containing, essential amino acid with biological functions in the initiation and prolongation step of protein synthesis, transmethylation reactions, the synthesis of cysteine and cystine, and as a component of antioxidant systems. Its key importance is reflected by the fact that i...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1571

    authors: Mastrototaro L,Sponder G,Saremi B,Aschenbach JR

    更新日期:2016-12-01 00:00:00

  • Involvement of PIN-like domain nucleases in tRNA processing and translation regulation.

    abstract::Transfer RNAs require essential maturation steps to become functional. Among them, RNase P removes 5' leader sequences of pre-tRNAs. Although RNase P was long thought to occur universally as ribonucleoproteins, different types of protein-only RNase P enzymes were discovered in both eukaryotes and prokaryotes. Interest...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.2062

    authors: Gobert A,Bruggeman M,Giegé P

    更新日期:2019-08-01 00:00:00

  • Giving off mixed signals--distinct functions of alpha5beta1 and alphavbeta3 integrins in regulating cell behaviour.

    abstract::The formation, maturation, and dissolution of focal adhesions are basic prerequisites of cell migration and rely on the recruitment, signalling, and endocytosis of integrins. In many instances, extracellular matrix molecules are recognised by a number of integrins, and it is the sequential involvement of different int...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.200

    authors: Morgan MR,Byron A,Humphries MJ,Bass MD

    更新日期:2009-07-01 00:00:00

  • Effect of streptozotocin-induced diabetes on activities of cholinesterases in the rat retina.

    abstract::The effect of streptozotocin-induced diabetes on cholinesterases activities was studied in the retina and, for comparison, in other nervous and nonnervous tissues. Streptozotocin diabetes did not affect acetylcholinesterase activity in the retina but increased its activity in the cerebral cortex (100%) and in serum (5...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1080/15216540050033140

    authors: Sánchez-Chávez G,Salceda R

    更新日期:2000-04-01 00:00:00

  • Uncoupling proteins--how do they work and how are they regulated.

    abstract::Uncoupling proteins (UCPs) are regulated H+ transporters and a subfamily of the mitochondrial carrier family. Whereas UCP1 in brown adipose tissue has a well-defined role in thermogenesis, the roles of other UCPs are still tentative, such as in control of immune response, oxygen radical formation, and insulin secretio...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1080/15216540152845975

    authors: Klingenberg M

    更新日期:2001-09-01 00:00:00

  • GATA factor transcriptional activity: Insights from genome-wide binding profiles.

    abstract::The members of the GATA family of transcription factors have homologous zinc fingers and bind to similar sequence motifs. Recent advances in genome-wide technologies and the integration of bioinformatics data have led to a better understanding of how GATA factors regulate gene expression; GATA-factor-induced transcrip...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.2169

    authors: Romano O,Miccio A

    更新日期:2020-01-01 00:00:00

  • Cloning and characterization of manganese superoxide dismutase gene from Vibrio parahaemolyticus and application to preliminary identification of Vibrio strains.

    abstract::The sodA gene coding for manganese superoxide dismutase (Mn-SOD) from the marine microorganism Vibrio parahaemolyticus was cloned, sequenced, and overexpressed in Escherichia coli by use of the pET20b (+) expression vector. The full-length gene consisted of a 588-bp open reading frame and encoded a polypeptide of 196 ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1080/713803521

    authors: Shyu YC,Lin FP

    更新日期:1999-09-01 00:00:00

  • Characterization of COBRA1 in human breast cancer cell lines using a new polyclonal antibody against COBRA1.

    abstract::Mutations in the breast cancer susceptibility gene BRCA1 predispose individuals to breast and ovarian cancers. Cofactor of BRCA1 (COBRA1), a novel protein, was isolated as a BRCA1-interacting protein. However, the role of COBRA1 in breast cancer is poorly understood. In this study, we demonstrate that COBRA1 mRNA was ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1080/15216540410001699826

    authors: Zhu J,Song S,Jiang Z,Yan J,Lu Q,Huang C,Ye Q

    更新日期:2004-03-01 00:00:00

  • Adiponectin and alcoholic fatty liver disease.

    abstract::Worldwide, one of the most prevalent forms of chronic disease is alcoholic fatty liver, which may progress to more severe forms of liver injury including steatohepatitis, fibrosis, and cirrhosis. The molecular mechanisms by which ethanol consumption causes accumulation of hepatic lipid are multiple and complex. Chroni...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.124

    authors: Rogers CQ,Ajmo JM,You M

    更新日期:2008-12-01 00:00:00

  • Structural basis of perturbed pKa values of catalytic groups in enzyme active sites.

    abstract::In protein and RNA macromolecules, only a limited number of different side-chain chemical groups are available to function as catalysts. The myriad of enzyme-catalyzed reactions results from the ability of most of these groups to function either as nucleophilic, electrophilic, or general acid-base catalysts, and the k...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1080/15216540211468

    authors: Harris TK,Turner GJ

    更新日期:2002-02-01 00:00:00

  • Synergistic effects of Rho kinase inhibitor Y-27632 and Noggin overexpression on the proliferation and neuron-like cell differentiation of stem cells derived from human exfoliated deciduous teeth.

    abstract::Stem cells from human exfoliated deciduous teeth (SHEDs) are highly proliferative, clonogenic, and multipotent stem cells with a neural crest cell origin. This property could be a desirable option for potential therapeutic applications. In this study, we focus on the effects of Rho kinase inhibitors Y-27632 and Noggin...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.2208

    authors: Yang S,Xin C,Zhang B,Zhang H,Hao Y

    更新日期:2020-04-01 00:00:00

  • Long noncoding RNA IGF2AS regulates high-glucose induced apoptosis in human retinal pigment epithelial cells.

    abstract::High-glucose-induced retinal tissue impairment is the major pathological phenotype of diabetic retinopathy. In an in vitro diabetic apoptosis cell model, we evaluated the function of long noncoding RNA, insulin growth factor 2 antisense (IGF2-AS) in high-glucose-injured human retinal pigment epithelial cells. A human ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.2102

    authors: Yu X,Luo Y,Chen G,Liu H,Tian N,Zen X,Liu Q

    更新日期:2019-10-01 00:00:00

  • Gliclazide attenuates cisplatin-induced nephrotoxicity through inhibiting NF-κB and caspase-3 activity.

    abstract::Cisplatin (CP), as a chemotherapeutic drug, causes nephrotoxicity that has limited the clinical utility of CP. Gliclazide (GLZ), as an antihyperglycemic drug, at low dose has antioxidant property. In this study, we aimed to investigate the protective effect of GLZ against CP-induced acute renal injury. Sixty-four BALB...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.2342

    authors: Taghizadeh F,Hosseinimehr SJ,Zargari M,Karimpour Malekshah A,Talebpour Amiri FB

    更新日期:2020-09-01 00:00:00

  • CD43 regulates the threshold for T cell activation by targeting Cbl functions.

    abstract::T cell (TC) activation requires the coordinated signaling of the T cell receptor (TCR) and coreceptor molecules, allowing TCs to respond to lower degrees of TCR occupancy. Coreceptor molecules set the threshold for TC activation by controlling different regulatory signaling loops. The Cbl family members prevent undesi...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.554

    authors: Pedraza-Alva G,Mérida LB,del Rio R,Fierro NA,Cruz-Muñoz ME,Olivares N,Melchy E,Igras V,Holländer GA,Burakoff SJ,Rosenstein Y

    更新日期:2011-10-01 00:00:00

  • Vitamin E: Mechanism of transport and regulation in the CNS.

    abstract::Although vitamin E has been recognized as a critical micronutrient to neuronal health for more than half a century, vitamin E transport and regulation in the brain remain a mystery. Currently, the majority of what is known about vitamin E transport has been delineated in the liver. However, clues from the pathogenesis...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1993

    authors: Lee P,Ulatowski LM

    更新日期:2019-04-01 00:00:00

  • Regulation of phospholipase C-β(1) GTPase-activating protein (GAP) function and relationship to G(q) efficacy.

    abstract::How cells regulate Gq efficacy (initiation and termination of Gq signaling) to effect response remains a central question in pharmacology and drug discovery. Phospholipase C-β1 (PLC-β1) is an effector and a GTPase activating protein (GAP) specific to Gαq. The physiological function of PLC-β1 GAP remains unclear and co...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1218

    authors: Litosch I

    更新日期:2013-11-01 00:00:00

  • What couples glycolysis to mitochondrial signal generation in glucose-stimulated insulin secretion?

    abstract::Pancreatic islet beta-cells are poised to generate metabolic messengers in the mitochondria that link glucose metabolism to insulin exocytosis. This is accomplished through the tight coupling of glycolysis to mitochondrial activation. The messenger molecules ATP and glutamate are produced after the metabolism of glyco...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1080/152165400410236

    authors: Ishihara H,Wollheim CB

    更新日期:2000-05-01 00:00:00

  • Genetic basis of antibiotic resistance in pathogenic Acinetobacter species.

    abstract::Antibiotic resistance in Acinetobacter spp., particularly Acinetobacter baumannii, is increasing rapidly. A. baumannii possesses two intrinsic β-lactamase genes, in addition to weak permeability and efflux systems, that together confer a natural reduced susceptibility to antibiotics. In addition, numerous acquired mec...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.532

    authors: Poirel L,Bonnin RA,Nordmann P

    更新日期:2011-12-01 00:00:00

  • Magnetic nanoparticles for targeted vascular delivery.

    abstract::Magnetic targeting has shown promise to improve the efficacy and safety of different classes of therapeutic agents by enabling their active guidance to the site of disease and minimizing dissemination to nontarget tissues. However, its translation into clinic has proven difficult because of inherent limitations of tra...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.479

    authors: Chorny M,Fishbein I,Forbes S,Alferiev I

    更新日期:2011-08-01 00:00:00

  • Procyanidin-B2 enriched fraction of cinnamon acts as a proteasome inhibitor and anti-proliferative agent in human prostate cancer cells.

    abstract::Altered activity of the proteolytic machine-the 26S proteasome is observed in many disease conditions. Hence, either inhibition or activation of the 26S proteasome is thought to be a novel therapy for treatment of certain diseases such as cancer and neurodegenerative disorders. In this study, we tested the potential o...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1735

    authors: Gopalakrishnan S,Ediga HH,Reddy SS,Reddy GB,Ismail A

    更新日期:2018-05-01 00:00:00

  • A 39 kDa fragment of endogenous ASK1 suggests specific cleavage not degradation by the proteasome.

    abstract::Transfected human apoptosis signal-regulating kinase 1 (ASK1) produces a 150 kDa protein. However, we have detected endogenous ASK1 predominantly as 39 and 50 kDa C-terminal and 75 and 110 kDa N-terminal fragments in a panel of nontransfected cancer cell lines and HUVEC endothelial cells. This suggests that in nonapop...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.24

    authors: Stordal B,Davey R

    更新日期:2008-03-01 00:00:00

  • Potential role of potassium and chloride channels in regulation of silymarin-induced apoptosis in Candida albicans.

    abstract::Silymarin, which is derived from the seeds of Silybum marianum, has been widely used to prevent and treat liver diseases. In our previous study, we reported that at concentrations above the minimal inhibitory concentration (MIC), silymarin exhibited antifungal activity against Candida albicans by targeting its plasma ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1716

    authors: Lee W,Lee DG

    更新日期:2018-03-01 00:00:00