NDLI: Functional Role of Transcriptional Factor TBX5 in Pre-mRNA Splicing and Holt-Oram Syndrome via Association with SC35

Please wait, while we are loading the content...

Year: 2017 Volume: 292

Year: 2016 Volume: 291

Year: 2015 Volume: 290

Year: 2014 Volume: 289

Year: 2013 Volume: 288

Year: 2012 Volume: 287

Year: 2011 Volume: 286

Year: 2010 Volume: 285

Year: 2009 Volume: 284

Year: 2009 Volume: 284 Issue: 52

Year: 2009 Volume: 284 Issue: 51

Year: 2009 Volume: 284 Issue: 50

Year: 2009 Volume: 284 Issue: 49

Year: 2009 Volume: 284 Issue: 48

Year: 2009 Volume: 284 Issue: 47

Year: 2009 Volume: 284 Issue: 46

Year: 2009 Volume: 284 Issue: 45

Year: 2009 Volume: 284 Issue: 44

Year: 2009 Volume: 284 Issue: 43

Year: 2009 Volume: 284 Issue: 42

Year: 2009 Volume: 284 Issue: 41

Year: 2009 Volume: 284 Issue: 40

Year: 2009 Volume: 284 Issue: 39

Year: 2009 Volume: 284 Issue: 38

Cooperative regulation of the interferon regulatory factor-1 tumor suppressor protein by core components of the molecular chaperone machinery.

A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling.

A functional P2X7 splice variant with an alternative transmembrane domain 1 escapes gene inactivation in P2X7 knock-out mice.

Bone morphogenetic protein 15 (BMP15) acts as a BMP and Wnt inhibitor during early embryogenesis.

Proteolytic Processing of HCN2 and Co-assembly with HCN4 in the Generation of Cardiac Pacemaker Channels

Isolation and characterization of a high affinity peptide inhibitor of ClC-2 chloride channels.

Dissecting an allosteric switch in caspase-7 using chemical and mutational probes.

The double-stranded RNA binding domain of the vaccinia virus E3L protein inhibits both RNA- and DNA-induced activation of interferon beta.

Anionic pulmonary surfactant phospholipids inhibit inflammatory responses from alveolar macrophages and U937 cells by binding the lipopolysaccharide-interacting proteins CD14 and MD-2.

The RNA-binding Motif Protein 15B (RBM15B/OTT3) Acts as Cofactor of the Nuclear Export Receptor $NXF1^{*}$

Demonstration of Proton-coupled Electron Transfer in the Copper-containing Nitrite Reductases

Pattern of expression and substrate specificity of chloroplast ferredoxins from Chlamydomonas reinhardtii.

Long range communication between exosites 1 and 2 modulates thrombin function.

Increased Cytokine Production in Interleukin-18 Receptor α-deficient Cells Is Associated with Dysregulation of Suppressors of Cytokine Signaling

Pro-interleukin (IL)-1beta shares a core region of stability as compared with mature IL-1beta while maintaining a distinctly different configurational landscape: a comparative hydrogen/deuterium exchange mass spectrometry study.

Succination of thiol groups in adipose tissue proteins in diabetes: succination inhibits polymerization and secretion of adiponectin.

Rapid Purification and High Sensitivity Analysis of Heparan Sulfate from Cells and Tissues

Echinoderm Phosphorylated Matrix Proteins UTMP16 and UTMP19 Have Different Functions in Sea Urchin Tooth $Mineralization^{*}$

Syndecan-1 is required for robust growth, vascularization, and metastasis of myeloma tumors in vivo.

Mutation of Asparagine 76 in the Center of Glutamine Transporter SNAT3 Modulates Substrate-induced Conductances and $Na^{+}$ Binding

Copper transport in mammalian cells: special care for a metal with special needs.

Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses.

Characterization of Mycobacterium leprae RecA Intein, a LAGLIDADG Homing Endonuclease, Reveals a Unique Mode of DNA Binding, Helical Distortion, and Cleavage Compared with a Canonical LAGLIDADG Homing Endonuclease

Mechanisms of Activity-dependent Plasticity in Cellular Nitric Oxide-cGMP $Signaling^{*}$

Effect of Conformational Dynamics on Substrate Recognition and Specificity as Probed by the Introduction of a de Novo Disulfide Bond into Cytochrome P450 2B1

Neutrophil MMP-9 proenzyme, unencumbered by TIMP-1, undergoes efficient activation in vivo and catalytically induces angiogenesis via a basic fibroblast growth factor (FGF-2)/FGFR-2 pathway.

Rhythmic expression of microRNA-26a regulates the L-type voltage-gated calcium channel alpha1C subunit in chicken cone photoreceptors.

Differential recognition and hydrolysis of host carbohydrate antigens by Streptococcus pneumoniae family 98 glycoside hydrolases.

Essential role of proximal histidine-asparagine interaction in mammalian peroxidases.

Characterization of YafO, an Escherichia coli toxin.

Toll-like Receptor 2 and DC-SIGNR1 Differentially Regulate Suppressors of Cytokine Signaling 1 in Dendritic Cells during Mycobacterium tuberculosis Infection

The constitutive androstane receptor is an anti-obesity nuclear receptor that improves insulin sensitivity.

Secondary acylation of Vibrio cholerae lipopolysaccharide requires phosphorylation of Kdo.

Transcriptional activation of the interleukin-21 gene and its receptor gene by human T-cell leukemia virus type 1 Tax in human T-cells.

Fibulin 5 Forms a Compact Dimer in Physiological $Solutions^{*}$

Fibronectin binds and enhances the activity of bone morphogenetic protein 1.

Adiponectin inhibits pro-inflammatory signaling in human macrophages independent of interleukin-10.

Directionality and coordination of dehydration and ring formation during biosynthesis of the lantibiotic nisin.

Evidence for the Direct Interaction of Spermine with the Inwardly Rectifying Potassium Channel

Intrinsic Voltage Dependence of the Epithelial $Na^{+}$ Channel Is Masked by a Conserved Transmembrane Domain Tryptophan

Vinyl sulfones as antiparasitic agents and a structural basis for drug design.

Anthrax lethal toxin enhances IkappaB kinase activation and differentially regulates pro-inflammatory genes in human endothelium.

Intersectin-2L regulates caveola endocytosis secondary to Cdc42-mediated actin polymerization.

Androgen Receptor Phosphorylation and Activity Are Regulated by an Association with Protein Phosphatase 1

SUMOylation attenuates the function of PGC-1alpha.

Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis.

The development of a metabolic disease phenotype in CTP:phosphoethanolamine cytidylyltransferase-deficient mice.

Binding and Cleavage Specificities of Human Argonaute2

Structural characterization of a viral NEIL1 ortholog unliganded and bound to abasic site-containing DNA.

Translesional DNA synthesis through a C8-guanyl adduct of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) in Vitro: REV1 inserts dC opposite the lesion, and DNA polymerase kappa potentially catalyzes extension reaction from the 3'-dC terminus.

Peptide-Major Histocompatibility Complex Dimensions Control Proximal Kinase-Phosphatase Balance during T Cell $Activation^{}$

Biodistribution of a bispecific single-chain diabody and its half-life extended derivatives.

PARP-1 deficiency increases the severity of disease in a mouse model of multiple sclerosis.

Investigating the elusive mechanism of glycosaminoglycan biosynthesis.

Angiopoietin-like 4 (ANGPTL4, fasting-induced adipose factor) is a direct glucocorticoid receptor target and participates in glucocorticoid-regulated triglyceride metabolism.

The $Ca^{2+}$ Affinity of Synaptotagmin 1 Is Markedly Increased by a Specific Interaction of Its C2B Domain with Phosphatidylinositol 4,5-Bisphosphate

Recognition versus adaptive up-regulation and degradation of CC chemokines by the chemokine decoy receptor D6 are determined by their N-terminal sequence.

Dual Acylation of PDE2A Splice Variant 3: TARGETING TO SYNAPTIC MEMBRANES

Mapping of the functional boundaries and secondary structure of the mouse mammary tumor virus Rem-responsive element.

Silencing cAMP-response element-binding protein (CREB) identifies CYR61 as a tumor suppressor gene in melanoma.

The Fanconi anemia protein FANCM is controlled by FANCD2 and the ATR/ATM pathways.

Protein kinase C-delta transactivates platelet-derived growth factor receptor-alpha in mechanical strain-induced collagenase 3 (matrix metalloproteinase-13) expression by osteoblast-like cells.

Potentiation of Growth Factor Signaling by Insulin-like Growth Factor-binding Protein-3 in Breast Epithelial Cells Requires Sphingosine Kinase Activity

The regulation of vascular endothelial growth factor-induced microvascular permeability requires Rac and reactive oxygen species.

Interaction between HMGA1 and retinoblastoma protein is required for adipocyte differentiation.

c-Cbl Tyrosine Kinase-binding Domain Mutant G306E Abolishes the Interaction of c-Cbl with CD38 and Fails to Promote Retinoic Acid-induced Cell Differentiation and $G_{0}$ Arrest

Secretory granule to the nucleus: role of a multiply phosphorylated intrinsically unstructured domain.

New insights into the early steps of phosphatidylinositol mannoside biosynthesis in mycobacteria: PimB' is an essential enzyme of Mycobacterium smegmatis.

Commitment of 1-methyl-4-phenylpyrinidinium ion-induced neuronal cell death by proteasome-mediated degradation of p35 cyclin-dependent kinase 5 activator.

Calcium is essential for the major pseudopilin in the type 2 secretion system.

Crystal structure of a homolog of mammalian serine racemase from Schizosaccharomyces pombe.

Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities.

A polarity probe for monitoring light-induced structural changes at the entrance of the chromophore pocket in a bacterial phytochrome.

Functional Role of Transcriptional Factor TBX5 in Pre-mRNA Splicing and Holt-Oram Syndrome via Association with SC35

Biosynthesis of mannophosphoinositides by Mycobacterium phlei. The family of dimannophosphoinositides. 1967. Biosynthesis of mannophosphoinositides by Mycobacterium phlei. Enzymatic acylation of the dimannophosphoinositides. 1968.

Year: 2009 Volume: 284 Issue: 37

Year: 2009 Volume: 284 Issue: 36

Year: 2009 Volume: 284 Issue: 35

Year: 2009 Volume: 284 Issue: 34

Year: 2009 Volume: 284 Issue: 33

Year: 2009 Volume: 284 Issue: 32

Year: 2009 Volume: 284 Issue: 31

Year: 2009 Volume: 284 Issue: 30

Year: 2009 Volume: 284 Issue: 29

Year: 2009 Volume: 284 Issue: 28

Year: 2009 Volume: 284 Issue: 27

Year: 2009 Volume: 284 Issue: 26

Year: 2009 Volume: 284 Issue: 25

Year: 2009 Volume: 284 Issue: 24

Year: 2009 Volume: 284 Issue: 23

Year: 2009 Volume: 284 Issue: 22

Year: 2009 Volume: 284 Issue: 21

Year: 2009 Volume: 284 Issue: 20

Year: 2009 Volume: 284 Issue: 19

Year: 2009 Volume: 284 Issue: 18

Year: 2009 Volume: 284 Issue: 17

Year: 2009 Volume: 284 Issue: 16

Year: 2009 Volume: 284 Issue: 15

Year: 2009 Volume: 284 Issue: 14

Year: 2009 Volume: 284 Issue: 13

Year: 2009 Volume: 284 Issue: 12

Year: 2009 Volume: 284 Issue: 11

Year: 2009 Volume: 284 Issue: 10

Year: 2009 Volume: 284 Issue: 9

Year: 2009 Volume: 284 Issue: 8

Year: 2009 Volume: 284 Issue: 7

Year: 2009 Volume: 284 Issue: 6

Year: 2009 Volume: 284 Issue: 5

Year: 2009 Volume: 284 Issue: 4

Year: 2009 Volume: 284 Issue: 3

Year: 2009 Volume: 284 Issue: 2

Year: 2009 Volume: 284 Issue: 1

Year: 2008 Volume: 283

Year: 2007 Volume: 282

Year: 2006 Volume: 281

Year: 2005 Volume: 280

Year: 2004 Volume: 279

Year: 2003 Volume: 278

Year: 2002 Volume: 277

Year: 2001 Volume: 276

Year: 2000 Volume: 275

Year: 1999 Volume: 274

Year: 1998 Volume: 273

Year: 1997 Volume: 272

Year: 1996 Volume: 271

Year: 1995 Volume: 270

Year: 1994 Volume: 269

Year: 1993 Volume: 268

Year: 1992 Volume: 267

Year: 1991 Volume: 266

Year: 1990 Volume: 265

Year: 1989 Volume: 264

Year: 1988 Volume: 263

Year: 1987 Volume: 262

Year: 1986 Volume: 261

Year: 1984 Volume: 259

Year: 1982 Volume: 257

Year: 1981 Volume: 256

Year: 1975 Volume: 250

Functional Role of Transcriptional Factor TBX5 in Pre-mRNA Splicing and Holt-Oram Syndrome via Association with SC35

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Wang, Qing Kenneth Chen, Qiuyun Fan, Chun
Description	Author Affiliation: Fan C ( Center for Cardiovascular Genetics, Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.)
Abstract	TBX5 is a T-box transcriptional factor required for cardiogenesis and limb development. TBX5 mutations cause Holt-Oram syndrome characterized by congenital heart defects and upper limb deformations. Here we establish a novel function for TBX5 in pre-mRNA splicing, and we show that this function is relevant to the pathogenesis of Holt-Oram syndrome, providing a novel pathogenic mechanism for the disease. Proteomics in combination with affinity purification identifies splicing factor SC35 as a candidate TBX5-associating protein. Co-immunoprecipitation and glutathione S-transferase pulldown assays confirm the complex formation between TBX5 and SC35. TBX5 can bind to RNA homopolymers (polyribonucleotides) and to the 5'-splice site, which overrides the binding of SC35 to the same RNA. Overexpression of TBX5 increases the efficiency of pre-mRNA splicing and regulates alternative splice site selection. However, co-expression of TBX5 and SC35 antagonizes each other's positive effect on splicing. The most severe TBX5 mutation, G80R, with complete penetrance of the cardiac phenotype, strongly affects pre-mRNA splicing, whereas other mutations with incomplete penetrance of the cardiac phenotype, including R237Q, do not alter the splicing activity of TBX5. This study establishes TBX5 as the first cardiac gene and the first human disease gene with dual roles in both transcriptional activation and pre-mRNA splicing.
ISSN	00219258
e-ISSN	1083351X
Journal	Journal of Biological Chemistry
Issue Number	38
Volume Number	284
Language	English
Publisher	American Society for Biochemistry and Molecular Biology (United States)
Publisher Date	2009-09-18
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Abnormalities, Multiple Metabolism Genetic Diseases, Inborn Multiprotein Complexes Nuclear Proteins RNA Precursors RNA Splicing Ribonucleoproteins T-Box Domain Proteins Genetics Amino Acid Substitution Cell Line Mutation Mutation, Missense Protein Binding RNA Splice Sites Serine-Arginine Splicing Factors Transcriptional Activation Research Support, Non-U.S. Gov't Biochemistry Molecular Biology
Content Type	Text
Resource Type	Article
Subject	Cell Biology Biochemistry Molecular Biology

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in