Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH by Frédéric Coin, Etienne Bergmann,

Slides:

Advertisements

Similar presentations

Jordan A. Mays. Key Points: 8 XP family proteins repair DNA damaged by sunlight through Nucleotide Excision Repair. XPF-ERCC1 complex is a structure-specific.

Advertisements

Karp/CELL & MOLECULAR BIOLOGY 3E

Definition of Xeroderma Pigmentosum: XP XP, first described in 1874, is a rare genetic defect in the nucleotide excision repair mechanism. It is characterized.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

I II III Homologous Recombination (HR) Repair of DNA damage Genome instability: recombination between dispersed repetitive sequences Translocation.

Induction of cyclin E–cdk2 kinase activity, E2F ‐ dependent transcription and cell growth by Myc are genetically separable events by Rudolf Beier, Andrea.

Transcriptional targets shared by estrogen receptor ‐ related receptors (ERRs) and estrogen receptor (ER) α, but not by ERβ by Jean ‐ Marc Vanacker, Katarina.

ΑKAP is an anchoring protein for a novel CaM kinase II isoform in skeletal muscle by K. ‐ Ulrich Bayer, Klaus Harbers, and Howard Schulman EMBO J. Volume.

RNA polymerase II kinetics in polo polyadenylation signal selection by Pedro A B Pinto, Telmo Henriques, Marta O Freitas, Torcato Martins, Rita G Domingues,

Human long non ‐ coding RNAs promote pluripotency and neuronal differentiation by association with chromatin modifiers and transcription factors by Shi.

Mutations in RNAs of both ribosomal subunits cause defects in translation termination by Alexey L. Arkov, David V. Freistroffer, Måns Ehrenberg, and Emanuel.

Two RING finger proteins mediate cooperation between ubiquitin ‐ conjugating enzymes in DNA repair by Helle D. Ulrich, and Stefan Jentsch EMBO J. Volume.

Formation of a nucleoprotein complex containing Tn7 and its target DNA regulates transposition initiation by Zachary Skelding, Robert Sarnovsky, and Nancy.

Molecular aging and rejuvenation of human muscle stem cells by Morgan E. Carlson, Charlotte Suetta, Michael J. Conboy, Per Aagaard, Abigail Mackey, Michael.

Neuropeptide Y regulates the hematopoietic stem cell microenvironment and prevents nerve injury in the bone marrow by Min Hee Park, Hee Kyung Jin, Woo.

Transgenic tobacco expressing a foreign calmodulin gene shows an enhanced production of active oxygen species by Scott A. Harding, Suk ‐ Heung Oh, and.

MiRNA ‐ dependent gene silencing involving Ago2 ‐ mediated cleavage of a circular antisense RNA by Thomas B Hansen, Erik D Wiklund, Jesper B Bramsen, Sune.

Modulation of NF ‐ κB ‐ dependent transcription and cell survival by the SIRT1 deacetylase by Fan Yeung, Jamie E Hoberg, Catherine S Ramsey, Michael D.

Disruption of the trypanothione reductase gene of Leishmania decreases its ability to survive oxidative stress in macrophages by Carole Dumas, Marc Ouellette,

SIP, a novel ankyrin repeat containing protein, sequesters steroid receptor coactivators in the cytoplasm by Ying Zhang, Hua Zhang, Jing Liang, Wenhua.

A viral protein inhibits the long range signaling activity of the gene silencing signal by Hui Shan Guo, and Shou Wei Ding EMBO J. Volume 21(3):

Activation of HER4 by heparin ‐ binding EGF ‐ like growth factor stimulates chemotaxis but not proliferation by Klaus Elenius, Subroto Paul, Genève Allison,

Dim ‐ 2 encodes a DNA methyltransferase responsible for all known cytosine methylation in Neurospora by Elena Kouzminova, and Eric U. Selker EMBO J. Volume.

Arabidopsis E2FA stimulates proliferation and endocycle separately through RBR ‐ bound and RBR ‐ free complexes by Zoltán Magyar, Beatrix Horváth, Safina.

A novel site for ubiquitination: the N ‐ terminal residue, and not internal lysines of MyoD, is essential for conjugation and degradation of the protein.

Bringing next ‐ generation diagnostics to the clinic through synthetic biology by Alexis Courbet, Eric Renard, and Franck Molina EMBO Mol Med. Volume ():e

Protein Synthesis Molecular Biology

Control of Gene Expression

DDB1: damage-specific DNA binding protein 1, 127kDa, RPA1: replication protein A1, 70kDa, XPA: xeroderma pigmentosum, complementation group A, XPF: xeroderma.

Transcription Course: Molecules to Cells Lecturer: David Mu DNA Repair.

Xeroderma Pigmentosum, XPF

Selective Regulation of Vitamin D Receptor-Responsive Genes by TFIIH

Nat. Rev. Clin. Oncol. doi: /nrclinonc

Volume 11, Issue 6, Pages (June 2003)

CSB Is a Component of RNA Pol I Transcription

p53 and Apoptosis: It's Not Just in the Nucleus Anymore

162. Stability of Polymer/Plasmid DNA Complexes In Vitro and In Vivo

281. Rapid Generation of Induced Pluripotent Stem Cells (iPSCs) from the Urine of a Patient with Duchenne Muscular Dystrophy Molecular Therapy Volume.

Volume 5, Issue 2, Pages (February 2000)

Volume 31, Issue 1, Pages 9-20 (July 2008)

Transcriptional Noise and Somatic Mutations in the Aging Pancreas

Adding Specificity to Artificial Transcription Activators

Methed-Up FOXOs Can't In-Akt-ivate

Volume 104, Issue 3, Pages (February 2001)

Relationship between Genotype and Phenotype

Distinct Roles for the XPB/p52 and XPD/p44 Subcomplexes of TFIIH in Damaged DNA Opening during Nucleotide Excision Repair Frédéric Coin, Valentyn Oksenych,

Jurgen A. Marteijn, Jan H.J. Hoeijmakers, Wim Vermeulen Molecular Cell

Oxidative and Energy Metabolism as Potential Clues for Clinical Heterogeneity in Nucleotide Excision Repair Disorders Mohsen Hosseini, Khaled Ezzedine,

Transcriptional Activators Stimulate DNA Repair

Figure 3. Genes differentially expressed in batch cultures during adaptation to low temperature. Genes differentially expressed in batch cultures during.

Volume 5, Issue 4, Pages (April 2000)

Characterization of Three XPG-Defective Patients Identifies Three Missense Mutations that Impair Repair and Transcription Annika Schäfer, Steffen Schubert,

Revisiting the Function of CDK7 in Transcription by Virtue of a Recently Described TFIIH Kinase Inhibitor Frédéric Coin, Jean-Marc Egly Molecular Cell

Molecular Structure of Human TFIIH

Ann Hochschild, Simon L Dove Cell

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh,

Volume 26, Issue 2, Pages (April 2007)

Bar plot representation of the transcriptomic changes in Δsaci_ptp and Δsaci_pp2a. Bar plot representation of the transcriptomic changes in Δsaci_ptp and.

Differential expression levels of archaella operon genes and respiratory chain genes in Δsaci_pp2a and Δsaci_ptp. Differential expression levels of archaella.

Somatic Hypermutation, Transcription, and DNA Mismatch Repair

Occurrence of fur−-only genes and expected sensitivity to Fur.

p8/TTD-A as a Repair-Specific TFIIH Subunit

Uncoupling Promoter Opening from Start-Site Scanning

Volume 65, Issue 3, Pages e4 (February 2017)

SMN1 and SMN2 contribute to spinal muscular atrophy (SMA).

Reconstitution of the Transcription Factor TFIIH

DNA damage, DNA repair and disease

Transcriptional promiscuity in testes

Volume 11, Issue 6, Pages (June 2003)

No Driver behind the Wheel? Targeting Transcription in Cancer

Presentation transcript:

Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH by Frédéric Coin, Etienne Bergmann, Alexandre Tremeau ‐ Bravard, and Jean ‐ Marc Egly EMBO J. Volume 18(5): March 1, 1999 ©1999 by European Molecular Biology Organization

Immunopurification of TFIIH using Ab ‐ p44. Frédéric Coin et al. EMBO J. 1999;18: ©1999 by European Molecular Biology Organization

Transcription and DNA repair activities of TFIIH(ip). Frédéric Coin et al. EMBO J. 1999;18: ©1999 by European Molecular Biology Organization

Composition and enzymatic activities of TFIIH isolated from HD2 cells containing a mutation in the XPD gene. Frédéric Coin et al. EMBO J. 1999;18: ©1999 by European Molecular Biology Organization

Composition and enzymatic activities of TFIIHs from patients with spinal muscular atrophy type I or II. TFIIH complexes isolated from patients with type I or II spinal muscular atrophy [IIH ‐ p44c and IIH ‐ p44(c+t), respectively] were immunopurifed and analyze... Frédéric Coin et al. EMBO J. 1999;18: ©1999 by European Molecular Biology Organization

Mutations in the XPB subunit differentially impede TFIIH transcription activity. Frédéric Coin et al. EMBO J. 1999;18: ©1999 by European Molecular Biology Organization

Artificial DNA promoter opening abolishes the transcription inhibition due to TFIIH of XPB patient. Frédéric Coin et al. EMBO J. 1999;18: ©1999 by European Molecular Biology Organization

XPB mutations prevent promoter opening. Frédéric Coin et al. EMBO J. 1999;18: ©1999 by European Molecular Biology Organization