DNA repair and transcriptional deficiencies caused by mutations in the Drosophila p52 subunit of TFIIH generate developmental defects and chromosome fragility.

Abstract:

:The transcription and DNA repair factor TFIIH is composed of 10 subunits. Mutations in the XPB, XPD, and p8 subunits are genetically linked to human diseases, including cancer. However, no reports of mutations in other TFIIH subunits have been reported in higher eukaryotes. Here, we analyze at genetic, molecular, and biochemical levels the Drosophila melanogaster p52 (DMP52) subunit of TFIIH. We found that DMP52 is encoded by the gene marionette in Drosophila and that a defective DMP52 produces UV light-sensitive flies and specific phenotypes during development: organisms are smaller than their wild-type siblings and present tumors and chromosomal instability. The human homologue of DMP52 partially rescues some of these phenotypes. Some of the defects observed in the fly caused by mutations in DMP52 generate trichothiodystrophy and cancer-like phenotypes. Biochemical analysis of DMP52 point mutations introduced in human p52 at positions homologous to those of defects in DMP52 destabilize the interaction between p52 and XPB, another TFIIH subunit, thus compromising the assembly of the complex. This study significantly extends the role of p52 in regulating XPB ATPase activity and, consequently, both its transcriptional and nucleotide excision repair functions.

journal_name

Mol Cell Biol

authors

Fregoso M,Lainé JP,Aguilar-Fuentes J,Mocquet V,Reynaud E,Coin F,Egly JM,Zurita M

doi

10.1128/MCB.00030-07

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

3640-50

issue

10

eissn

0270-7306

issn

1098-5549

pii

MCB.00030-07

journal_volume

27

pub_type

杂志文章
  • Regulated degradation of ornithine decarboxylase requires interaction with the polyamine-inducible protein antizyme.

    abstract::Intracellular degradation of vertebrate ornithine decarboxylase (ODC) is accelerated by polyamines, the products of the pathway controlled by ODC. Antizyme, a reversible, tightly binding protein inhibitor of ODC activity, is believed to be involved in this process. Mouse and Trypanosoma brucei ODCs are structurally si...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.12.8.3556

    authors: Li X,Coffino P

    更新日期:1992-08-01 00:00:00

  • Endothelial Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4 Is Critical for Lymphatic Vascular Development and Function.

    abstract::The molecular mechanisms underlying lymphatic vascular development and function are not well understood. Recent studies have suggested a role for endothelial cell (EC) mitogen-activated protein kinase kinase kinase kinase 4 (Map4k4) in developmental angiogenesis and atherosclerosis. Here, we show that constitutive los...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.01121-15

    authors: Roth Flach RJ,Guo CA,Danai LV,Yawe JC,Gujja S,Edwards YJ,Czech MP

    更新日期:2016-05-31 00:00:00

  • Expression of the three human major histocompatibility complex class II isotypes exhibits a differential dependence on the transcription factor RFXAP.

    abstract::Major histocompatibility complex class II (MHCII) molecules play a pivotal role in the immune system because they direct the development and activation of CD4(+) T cells. There are three human MHCII isotypes, HLA-DR, HLA-DQ, and HLA-DP. Key transcription factors controlling MHCII genes have been identified by virtue o...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.21.17.5699-5709.2001

    authors: Peretti M,Villard J,Barras E,Zufferey M,Reith W

    更新日期:2001-09-01 00:00:00

  • Cleavage specificity of chloroplast and nuclear tRNA 3'-processing nucleases.

    abstract::tRNAs in eukaryotic nuclei and organelles are synthesized as precursors lacking the 3'-terminal CCA sequence and possessing 5' (leader) and 3' (trailer) extensions. Nucleolytic cleavage of the 3' trailer and addition of CCA are therefore required for formation of functional tRNA 3' termini. Many chloroplast tRNA genes...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.12.2.865

    authors: Oommen A,Li XQ,Gegenheimer P

    更新日期:1992-02-01 00:00:00

  • DNA elements regulating alpha1-tubulin gene induction during regeneration of eukaryotic flagella.

    abstract::Eukaryotic flagella are complex organelles composed of more than 200 polypeptides. Little is known about the regulatory mechanisms governing synthesis of the flagellar protein subunits and their assembly into this complex organelle. The unicellular green alga Chlamydomonas reinhardtii is the premier experimental model...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.17.7.3858

    authors: Periz G,Keller LR

    更新日期:1997-07-01 00:00:00

  • Ongoing diversification of the rearranged immunoglobulin light-chain gene in a bursal lymphoma cell line.

    abstract::The chicken immunoglobulin light-chain gene (IgL) encodes only a single variable gene segment capable of recombination. To generate an immune repertoire, chickens diversify this unique rearranged VL gene segment during B-cell development in the bursa of Fabricius. Sequence analysis of IgL cDNAs suggests that both gene...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.10.6.3224

    authors: Kim S,Humphries EH,Tjoelker L,Carlson L,Thompson CB

    更新日期:1990-06-01 00:00:00

  • Nap1 links transcription elongation, chromatin assembly, and messenger RNP complex biogenesis.

    abstract::Chromatin remodeling is central to the regulation of transcription elongation. We demonstrate that the conserved Saccharomyces cerevisiae histone chaperone Nap1 associates with chromatin. We show that Nap1 regulates transcription of PHO5, and the increase in transcript level and the higher phosphatase activity plateau...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.02136-07

    authors: Del Rosario BC,Pemberton LF

    更新日期:2008-04-01 00:00:00

  • Runx1 directly promotes proliferation of hair follicle stem cells and epithelial tumor formation in mouse skin.

    abstract::Runx1/AML1 is a transcription factor implicated in tissue stem cell regulation and belongs to the small Runx family of cancer genes. In the hair follicle (HF), Runx1 epithelial deletion in morphogenesis impairs normal adult hair homeostasis (cycle) and blocks adult hair follicle stem cells (HFSCs) in quiescence. Here,...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.01308-09

    authors: Hoi CS,Lee SE,Lu SY,McDermitt DJ,Osorio KM,Piskun CM,Peters RM,Paus R,Tumbar T

    更新日期:2010-05-01 00:00:00

  • TAF1 histone acetyltransferase activity in Sp1 activation of the cyclin D1 promoter.

    abstract::A missense mutation within the histone acetyltransferase (HAT) domain of the TATA binding protein-associated factor TAF1 induces ts13 cells to undergo a late G(1) arrest and decreases cyclin D1 transcription. We have found that TAF1 mutants (Delta844-850 and Delta848-850, from which amino acids 844 through 850 and 848...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.25.10.4321-4332.2005

    authors: Hilton TL,Li Y,Dunphy EL,Wang EH

    更新日期:2005-05-01 00:00:00

  • Hierarchy of protein tyrosine kinases in interleukin-2 (IL-2) signaling: activation of syk depends on Jak3; however, neither Syk nor Lck is required for IL-2-mediated STAT activation.

    abstract::Interleukin-2 (IL-2) activates several different families of tyrosine kinases, but precisely how these kinases interact is not completely understood. We therefore investigated the functional relationships among Jak3, Lck, and Syk in IL-2 signaling. We first observed that in the absence of Jak3, both Lck and Syk had th...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.20.12.4371-4380.2000

    authors: Zhou YJ,Magnuson KS,Cheng TP,Gadina M,Frucht DM,Galon J,Candotti F,Geahlen RL,Changelian PS,O'Shea JJ

    更新日期:2000-06-01 00:00:00

  • Akt-directed glucose metabolism can prevent Bax conformation change and promote growth factor-independent survival.

    abstract::The serine/threonine kinase Akt is a component of many receptor signal transduction pathways and can prevent cell death following growth factor withdrawal. Here, we show that Akt inhibition of cell death is not dependent on new protein translation. Instead, Akt inhibition of cell death requires glucose hydrolysis thro...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.23.20.7315-7328.2003

    authors: Rathmell JC,Fox CJ,Plas DR,Hammerman PS,Cinalli RM,Thompson CB

    更新日期:2003-10-01 00:00:00

  • UBF binding in vivo is not restricted to regulatory sequences within the vertebrate ribosomal DNA repeat.

    abstract::The HMG box containing protein UBF binds to the promoter of vertebrate ribosomal repeats and is required for their transcription by RNA polymerase I in vitro. UBF can also bind in vitro to a variety of sequences found across the intergenic spacer in Xenopus and mammalian ribosomal DNA (rDNA) repeats. The high abundanc...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.22.2.657-668.2002

    authors: O'Sullivan AC,Sullivan GJ,McStay B

    更新日期:2002-01-01 00:00:00

  • Developmental regulation of human gamma-globin genes in transgenic mice.

    abstract::We report results showing that several gamma gene promoter elements participate in the developmental control of gamma-globin genes. Four gamma gene constructs with 5' truncated at -141, -201, -382, and -730 of the A gamma gene promoter linked to a micro locus control region (microLCR) cassette were used for production...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.13.12.7636

    authors: Stamatoyannopoulos G,Josephson B,Zhang JW,Li Q

    更新日期:1993-12-01 00:00:00

  • Fine mapping of 28S rRNA sites specifically cleaved in cells undergoing apoptosis.

    abstract::Bona fide apoptosis in rat and human leukemia cells, rat thymocytes, and bovine endothelial cells was accompanied by limited and specific cleavage of polysome-associated and monosome-associated 28S rRNA, with 18S rRNA being spared. Specific 28S rRNA cleavage was observed in all instances of apoptotic death accompanied...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.15.4.2051

    authors: Houge G,Robaye B,Eikhom TS,Golstein J,Mellgren G,Gjertsen BT,Lanotte M,Døskeland SO

    更新日期:1995-04-01 00:00:00

  • Natural and synthetic DNA elements with the CArG motif differ in expression and protein-binding properties.

    abstract::DNA elements with the CC(A/T)6GG, or CArG, motif occur in promoters that are under different regulatory controls. CArG elements from the skeletal actin, c-fos, and myogenin genes were tested for their abilities to confer tissue-specific expression on reporter genes when the individual elements were situated immediatel...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.11.12.6296

    authors: Santoro IM,Walsh K

    更新日期:1991-12-01 00:00:00

  • Two functional alpha-tubulin genes of the yeast Saccharomyces cerevisiae encode divergent proteins.

    abstract::Two alpha-tubulin genes from the budding yeast Saccharomyces cerevisiae were identified and cloned by cross-species DNA homology. Nucleotide sequencing studies revealed that the two genes, named TUB1 and TUB3, encoded gene products of 447 and 445 amino acids, respectively, that are highly homologous to alpha-tubulins ...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.6.11.3711

    authors: Schatz PJ,Pillus L,Grisafi P,Solomon F,Botstein D

    更新日期:1986-11-01 00:00:00

  • Characterization of BCE-1, a transcriptional enhancer regulated by prolactin and extracellular matrix and modulated by the state of histone acetylation.

    abstract::We have previously described a 160-bp enhancer (BCE-1) in the bovine beta-casein gene that is activated in the presence of prolactin and extracellular matrix (ECM). Here we report the characterization of the enhancer by deletion and site-directed mutagenesis, electrophoretic mobility shift analysis, and in vivo footpr...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.18.4.2184

    authors: Myers CA,Schmidhauser C,Mellentin-Michelotti J,Fragoso G,Roskelley CD,Casperson G,Mossi R,Pujuguet P,Hager G,Bissell MJ

    更新日期:1998-04-01 00:00:00

  • PEBP2/CBF, the murine homolog of the human myeloid AML1 and PEBP2 beta/CBF beta proto-oncoproteins, regulates the murine myeloperoxidase and neutrophil elastase genes in immature myeloid cells.

    abstract::The myeloperoxidase (MPO) and neutrophil elastase genes are expressed specifically in immature myeloid cells. The integrity of a polyomavirus enhancer core sequence, 5'-AACCACA-3', is critical to the activity of the murine MPO proximal enhancer. This element binds two species, myeloid nuclear factors 1 alpha and 1 bet...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.14.8.5558

    authors: Nuchprayoon I,Meyers S,Scott LM,Suzow J,Hiebert S,Friedman AD

    更新日期:1994-08-01 00:00:00

  • Involvement of Brca1 in S-phase and G(2)-phase checkpoints after ionizing irradiation.

    abstract::Cell cycle arrests in the G(1), S, and G(2) phases occur in mammalian cells after ionizing irradiation and appear to protect cells from permanent genetic damage and transformation. Though Brca1 clearly participates in cellular responses to ionizing radiation (IR), conflicting conclusions have been drawn about whether ...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.21.10.3445-3450.2001

    authors: Xu B,Kim St,Kastan MB

    更新日期:2001-05-01 00:00:00

  • The (6;9) chromosome translocation, associated with a specific subtype of acute nonlymphocytic leukemia, leads to aberrant transcription of a target gene on 9q34.

    abstract::The specific (6;9)(p23;q34) chromosomal translocation is associated with a defined subtype of acute nonlymphocytic leukemia (ANLL). The 9q34 breakpoint is located at the telomeric side of the c-abl gene. Through a combination of chromosome jumping, long-range mapping, and chromosome walking, the chromosome 9 breakpoin...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.10.8.4016

    authors: von Lindern M,Poustka A,Lerach H,Grosveld G

    更新日期:1990-08-01 00:00:00

  • Hematopoietic cell fate and the initiation of leukemic properties in primitive primary human cells are influenced by Ras activity and farnesyltransferase inhibition.

    abstract::The Ras pathway transduces divergent signals determining normal cell fate and is frequently activated in hematopoietic malignancies, but the manner in which activation contributes to human leukemia is poorly understood. We report that a high level of activated H-Ras signaling in transduced primary human hematopoietic ...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.24.16.6993-7002.2004

    authors: Dorrell C,Takenaka K,Minden MD,Hawley RG,Dick JE

    更新日期:2004-08-01 00:00:00

  • Interaction between the yeast mitochondrial and nuclear genomes influences the abundance of novel transcripts derived from the spacer region of the nuclear ribosomal DNA repeat.

    abstract::We have identified stable transcripts from the so-called nontranscribed spacer region (NTS) of the nuclear ribosomal DNA repeat in certain respiration-deficient strains of Saccharomyces cerevisiae. These RNAs, which are transcribed from the same strand as is the 37S rRNA precursor, are 500 to 800 nucleotides long and ...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.9.5.1897

    authors: Parikh VS,Conrad-Webb H,Docherty R,Butow RA

    更新日期:1989-05-01 00:00:00

  • Regulation of albumin gene expression in a series of rat hepatocyte cell lines immortalized by simian virus 40 and maintained in chemically defined medium.

    abstract::A series of simian virus 40 (SV40)-immortalized hepatocyte cell lines were characterized for albumin production, the regulation of albumin production, and the expression of other liver-specific genes. This series of cell lines is particularly useful for studying the regulation of hepatocyte gene expression because the...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.7.10.3740

    authors: Woodworth CD,Isom HC

    更新日期:1987-10-01 00:00:00

  • Dynamic localization and function of Bni1p at the sites of directed growth in Saccharomyces cerevisiae.

    abstract::Formin homology (FH) proteins are implicated in cell polarization and cytokinesis through actin organization. There are two FH proteins in the yeast Saccharomyces cerevisiae, Bni1p and Bnr1p. Bni1p physically interacts with Rho family small G proteins (Rho1p and Cdc42p), actin, two actin-binding proteins (profilin and...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.21.3.827-839.2001

    authors: Ozaki-Kuroda K,Yamamoto Y,Nohara H,Kinoshita M,Fujiwara T,Irie K,Takai Y

    更新日期:2001-02-01 00:00:00

  • Molecular organization of the human Raf-1 promoter region.

    abstract::A genomic DNA fragment containing the Raf-1 promoter region was isolated by using a cDNA extension clone. Nucleotide sequencing of genomic DNA clones, primer extension, and S1 nuclease assays have been used to identify the 5' ends of Raf-1 RNAs. Consistent with its ubiquitous expression, the Raf-1 promoter region had ...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.10.7.3325

    authors: Beck TW,Brennscheidt U,Sithanandam G,Cleveland J,Rapp UR

    更新日期:1990-07-01 00:00:00

  • Vaccinia-related kinase 2 mediates accumulation of polyglutamine aggregates via negative regulation of the chaperonin TRiC.

    abstract::Misfolding of proteins containing abnormal expansions of polyglutamine (polyQ) repeats is associated with cytotoxicity in several neurodegenerative disorders, including Huntington's disease. Recently, the eukaryotic chaperonin TRiC hetero-oligomeric complex has been shown to play an important role in protecting cells ...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.00756-13

    authors: Kim S,Park DY,Lee D,Kim W,Jeong YH,Lee J,Chung SK,Ha H,Choi BH,Kim KT

    更新日期:2014-02-01 00:00:00

  • Direct interaction with Rab11a targets the epithelial Ca2+ channels TRPV5 and TRPV6 to the plasma membrane.

    abstract::TRPV5 and TRPV6 are the most Ca2+-selective members of the transient receptor potential (TRP) family of cation channels and play a pivotal role in the maintenance of Ca2+ balance in the body. However, little is known about the mechanisms controlling the plasma membrane abundance of these channels to regulate epithelia...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.26.1.303-312.2006

    authors: van de Graaf SF,Chang Q,Mensenkamp AR,Hoenderop JG,Bindels RJ

    更新日期:2006-01-01 00:00:00

  • Kinetics and regulation of the tyrosine phosphorylation of epidermal growth factor receptor in intact A431 cells.

    abstract::We have previously reported that antibodies to phosphotyrosine recognize the phosphorylated forms of platelet-derived growth factor (PDGF) and epidermal growth factor (EGF) receptors (Zippel et al., Biochim. Biophys. Acta 881:54-61, 1986, and Sturani et al., Biochem. Biophys. Res. Commun. 137:343-350, 1986). In this r...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.8.3.1345

    authors: Sturani E,Zippel R,Toschi L,Morello L,Comoglio PM,Alberghina L

    更新日期:1988-03-01 00:00:00

  • Caspase-2, a novel lipid sensor under the control of sterol regulatory element binding protein 2.

    abstract::Caspases play important roles in apoptotic cell death and in some other functions, such as cytokine maturation, inflammation, or differentiation. We show here that the 5'-flanking region of the human CASP-2 gene contains three functional response elements for sterol regulatory element binding proteins (SREBPs), protei...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/MCB.25.21.9621-9631.2005

    authors: Logette E,Le Jossic-Corcos C,Masson D,Solier S,Sequeira-Legrand A,Dugail I,Lemaire-Ewing S,Desoche L,Solary E,Corcos L

    更新日期:2005-11-01 00:00:00

  • An octamer motif contributes to the expression of the retinoic acid-regulated zinc finger gene Rex-1 (Zfp-42) in F9 teratocarcinoma cells.

    abstract::The message for the zinc finger gene Rex-1 (Zfp-42) is expressed in undifferentiated murine F9 teratocarcinoma cells and embryonic stem cells. Expression of Rex-1 is reduced at the transcriptional level when F9 cells are induced by the addition of retinoic acid (RA) to differentiate. We have isolated genomic DNA for t...

    journal_title:Molecular and cellular biology

    pub_type: 杂志文章

    doi:10.1128/mcb.13.5.2919

    authors: Hosler BA,Rogers MB,Kozak CA,Gudas LJ

    更新日期:1993-05-01 00:00:00