Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene

スポンサーリンク

概要

• 論文の詳細を見る

• Purine-rich sequences within exons are proposed to promote proper splicing as splicing enhancers. In order to test this supposition in the dystrophin gene, which is characterized by the large size of its introns, purine-rich sequences from three exons (exons 43, 46 and 53) were examined for their splicing enhancer activity by using a Drosophila doublesex pre-mRNA. The most powerful activating effect on upstream intron splicing was seen with a sequence from exon 43. A sequence from exon 53 showed relatively low activity, whilst that from exon 46 had little effect. To characterize the splicing enhancer sequences in exons 53 and 46 further, entire exons were divided into 30nt fragments that were examined separately for their splicing enhancer activity. In exon 53, two fragments located at the 5' and 3' ends, respectively, had strong splicing enhancer activity, although they were not the most purine-rich regions of the exon. In contrast, all of the fragments derived from exon 46 had little activity. These results suggest that different exons in the dystrophin transcript are subject to different mechanisms of control by the splicing machinery.

• 神戸大学の論文

著者

• Matsuo Masafumi

  神戸大学医学系研究科

• Takeshima Yasuhiro

  神戸大学医学部

• Nakamura Hajime

  神戸大学医学部

• Nakamura Hajime

  Hyogo Prefectural Kobe Children's Hospital

• Nakamura H

  Hyogo Prefectural Kobe Children's Hospital

• Ito Toshiyuki

  神戸大学医学系研究科

• Sakamoto Hiroshi

  神戸大学自然科学研究科

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Nakamura Hajime

  神戸大学医学系研究科

• Sakamoto Hiroshi

  Department Of Medical Biochemistry Kurume University School Of Medicine

• Yamasaki Takemi

  Hyogo Prefectural Children's Hospital

• Takeshima Y

  Hyogo Prefectural Children's Hospital

• Nakamura Hajime

  Department Of Development And Aging Faculty Of Medicine Kobe University Graduate School Of Medicine

• Takeshima Yasuhiro

  神戸大学自然科学研究科

• Sakamoto Hiroshi

  神戸大学医学系研究科

関連論文

• Novel Mutations in 21 Patients with Tuberous Sclerosis Complex and Variation of Tandem Splice-acceptor Sites in TSC1 exon 14
• ベトナム人脊髄性筋萎縮症患者におけるSMN2遺伝子量ならびにNAIP遺伝子量について
• Clinical Types, Molecular Genetic Diagnosis & Genetic : clinical Correlation in Patients with Spinal Muscular Atrophy
• Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
• Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular Atrophy
• 全国調査における典型的溶血性尿毒症症候群の重症化因子の検討
• Association of Cumulative Cyclosporine Dose with Its Irreversible Nephrotoxicity in Japanese Patients with Pediatric-Onset Autoimmune Diseases(Biopharmacy)
• 志賀毒素を介さず発症した溶血性尿毒症症候群5症例の予後と腎組織像に関する検討
• A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism
• 小児SLE患者に対する高用量ミゾリビン投与の試み
• Prediction of systemic exposure to cyclosporine in Japanese pediatric patients
• Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome
• Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
• Molecular Diagnosis, Correlation of Clinical and Deletion Data in Duchenne Muscular Dystrophy
• チャイルドシート着用が新生児の呼吸循環機能に与える影響 : ベット状シートと椅子状シートの比較
• Successful treatment of chronic granulomatous disease with fludarabine-based reduced-intensity conditioning and unrelated bone marrow transplantation
• Effect of Hydrophobic Core Amino Acid Residues of P53 Oligomerization Domain on the Stability of Three-Dimensional Structure
• Study on Association Factor Using the Substituted Analogs of Tetramerization Domain of Tumor Suppressor Protein p53
• Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
• Effects of Polymorphisms of MDR1, MRP1, and MRP2 Genes on Their mRNA Expression Levels in Duodenal Enterocytes of Healthy Japanese Subjects(Biopharmacy)
• The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population
• HnRNP C1/C2 May Regulate Exon 7 Splicing in the Spinal Muscular Atrophy Gene SMN1
• 良性家族性新生児痙攣を有する日本人一家系内の生殖細胞に生じたKCNQ2遺伝子変異(p. R213W)
• A Strong Exonic Splicing Enhancer in Dystrophin Exon 19 Achieve Proper Splicing Without an Upstream Polypyrimidine Tract
• Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
• Ureaplasma urealyticum and Mycoplasma hominis Presence in Umbilical Cord is Associated with Pathogenesis of Funisitis
• Mutation Analysis of the Ornithine Transcarbamylase (OTC) Gene in Five Japanese OTC Deficiency Patients Revealed Two Known and Three Novel Mutations Including a Deep Intronic Mutation
• Mosaic Tetrasomy 9p Case with the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-Stimulated Testosterone Production
• 日本人のSMN1遺伝子上にC117T多型を見出した
• Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum
• Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography-tandem mass spectrometry
• Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Vietnam
• Nobel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11
• Prenatal diagnosis of a Japanese family at risk for tay-sachs disease : application of a fluorescent competitive allele-specific polymerase chain reaction (pcr) method
• タイ国のGilbert症候群患者姉妹のUGT1A1遺伝子に認められた新しいミスセンス異変
• 新生児慢性肺疾患に対するデキサメサゾン療法が呼吸機能に及ぼす効果 : 病型別検討
• Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations
• インドネシア東ジャワ地方の前頭骨篩骨脳瘤患者にMTHFR遺伝子のC677T変異は認められなかった
• ACE Gene Polymorphism in Children with Nephrotic Syndrome in the Indonesian Population
• Automatic detection of immature platelets for decision making regarding platelet transfusion indications for pediatric patients
• Comparative study on deletions of the dystrophin gene in three Asian populations
• Eyelid myoclonia with absences in monozygotic twins
• Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method : A pilot study on Filipino male newborns
• Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Malays in Malaysia
• Clinical features of infants with subependymal germinolysis and choroid plexus cysts
• Evaluation of change of cerebral circulation by SpO_2 in preterm infants with apneic episodes using near infrared spectroscopy
• A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
• Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
• Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity
• Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
• Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene
• End-tidal carbon monoxide is predictive for neonatal non-hemolytic hyperbilirubinemia
• Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene : a novel source of genomic instability
• A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
• Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrobe c oxidase dificiency
• Severe neonatal nemaline myopathy with delayed maturation of muscle
• Classification of Congenital Hypothyroidism Based on Scintigraphy, Ultrasonography and the Serum Thyroglobulin Level
• Preventive effects of dexamethasone on hypoxic-ischemic brain damage in the neonatal rat
• Phosphorylation Influences The Association of p53 Tetramers
• Chemical Synthesis of Phosphorylated Peptides of The Carboxy-Terminal Domain of Human p53 by A Segment Condensation Method
• Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
• PDGF-alpha Receptor Expression Following Hypoxic-Ischemic Injury in the Neonatal Rat Brain
• Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle
• Selective Brain Hypothermia Protects against Hypoxic-Ischemic Injury in Newborn Rats by Reducing Hydroxyl Radical Production
• Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry
• SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy
• A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert’s Syndrome
• Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia
• Utility of Multiplex PCR in Detecting the Causative Pathogens for Pediatric Febrile Neutropenia
• Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1
• eBraille: a web-based translation program for Japanese text to braille
• バルプロ酸誘発高アンモニア血症に対するCPS1 4217C>A遺伝子多型の影響
• Fatal degeneration of specialized cardiac muscle associated with chronic active Epstein-Barr virus infection
• Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
• 先天性全身性脂肪萎縮症の2乳児例
• Clinical Features of 62 Allogeneic Stem Cell Transplantations; the Evaluation of Prognostic Factor in a Single Institution
• A surviving case of papillorenal syndrome with the phenotype of Potter sequence
• Place of Death of Pediatric Cancer Patients in a Single Institute during 7 Years
• Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
• Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
• Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
• Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene

もっと見る 閉じる

スポンサーリンク