ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.


:ATRX is an X-linked gene of the SWI/SNF family, mutations in which cause syndromal mental retardation and downregulation of α-globin expression. Here we show that ATRX binds to tandem repeat (TR) sequences in both telomeres and euchromatin. Genes associated with these TRs can be dysregulated when ATRX is mutated, and the change in expression is determined by the size of the TR, producing skewed allelic expression. This reveals the characteristics of the affected genes, explains the variable phenotypes seen with identical ATRX mutations, and illustrates a new mechanism underlying variable penetrance. Many of the TRs are G rich and predicted to form non-B DNA structures (including G-quadruplex) in vivo. We show that ATRX binds G-quadruplex structures in vitro, suggesting a mechanism by which ATRX may play a role in various nuclear processes and how this is perturbed when ATRX is mutated.






Law MJ,Lower KM,Voon HP,Hughes JR,Garrick D,Viprakasit V,Mitson M,De Gobbi M,Marra M,Morris A,Abbott A,Wilder SP,Taylor S,Santos GM,Cross J,Ayyub H,Jones S,Ragoussis J,Rhodes D,Dunham I,Higgs DR,Gibbons RJ




Has Abstract


2010-10-29 00:00:00
















  • Pluripotent teratocarcinoma-thymus somatic cell hybrids.

    abstract::We have produced a series of somatic cell hybrids by fusing pluripotent PCC4aza1 embryonal carcinoma ("teretocarcinoma") cells with thymocytes from young adult mice. When these hybrids form tumors in nu/nu or syngeneic mice, all the tumors contain a range of differentiated tissues, as well as embryonal carcinoma-like ...


    pub_type: 杂志文章


    authors: Miller RA,Ruddle FH

    更新日期:1976-09-01 00:00:00

  • Control of cell proliferation and apoptosis by mob as tumor suppressor, mats.

    abstract::Appropriate cell number and organ size in a multicellular organism are determined by coordinated cell growth, proliferation, and apoptosis. Disruption of these processes can cause cancer. Recent studies have identified the Large tumor suppressor (Lats)/Warts (Wts) protein kinase as a key component of a pathway that co...


    pub_type: 杂志文章


    authors: Lai ZC,Wei X,Shimizu T,Ramos E,Rohrbaugh M,Nikolaidis N,Ho LL,Li Y

    更新日期:2005-03-11 00:00:00

  • SRV2, a gene required for RAS activation of adenylate cyclase in yeast.

    abstract::We have identified a gene, SRV2, mutations of which alleviate stress sensitivity in strains carrying an activated RAS gene. Epistasis analysis suggests that the gene affects accumulation of cAMP in the cell. Direct assays of cAMP accumulation indicate that mutations of the gene diminish the rate of in vivo production ...


    pub_type: 杂志文章


    authors: Fedor-Chaiken M,Deschenes RJ,Broach JR

    更新日期:1990-04-20 00:00:00

  • Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist.

    abstract::The axonal shafts of neurons contain bundled microtubules, whereas extending growth cones contain unbundled microtubule filaments, suggesting that localized activation of microtubule-associated proteins (MAP) at the transition zone may bundle these filaments during axonal growth. Dephosphorylation is thought to lead t...


    pub_type: 杂志文章


    authors: Bielas SL,Serneo FF,Chechlacz M,Deerinck TJ,Perkins GA,Allen PB,Ellisman MH,Gleeson JG

    更新日期:2007-05-04 00:00:00

  • Maternally transmitted resistance to lymphoma development in mice of reciprocal crosses of the RF/J and AKR/J strains.

    abstract::Females but not males of the low-lymphoma RF/J strain transmit a non-Mendelian factor which suppresses the development of lymphoma in F1 crosses with mice of the high-lymphoma AKR/J strain. Suppression of lymphoma was also evident in the first backcross generation to the parental AKR strain, but only when (RF female x...


    pub_type: 杂志文章


    authors: Mayer A,Struuck FD,Duran-Reynals ML,Lilly F

    更新日期:1980-02-01 00:00:00

  • The isolation and characterization of a second oocyte 5s DNA from Xenopus laevis.

    abstract::A second and minor DNA component containing 5s RNA genes has been purified from the genomic DNA of Xenopus laevis (XIt 5S DNA). Some of its physical and chemical characteristics are described. It contains a 5S RNA gene sequence which has some oocyte and some somatic-specific residues, as well as nucleotides which diff...


    pub_type: 杂志文章


    authors: Brown DD,Carrol D,Brown RD

    更新日期:1977-12-01 00:00:00

  • The DHR78 nuclear receptor is required for ecdysteroid signaling during the onset of Drosophila metamorphosis.

    abstract::Pulses of ecdysteroids direct Drosophila through its life cycle by activating stage- and tissue-specific genetic regulatory hierarchies. Here we show that an orphan nuclear receptor, DHR78, functions at the top of the ecdysteroid regulatory hierarchies. Null mutations in DHR78 lead to lethality during the third larval...


    pub_type: 杂志文章


    authors: Fisk GJ,Thummel CS

    更新日期:1998-05-15 00:00:00

  • Modulation of Myelopoiesis Progenitors Is an Integral Component of Trained Immunity.

    abstract::Trained innate immunity fosters a sustained favorable response of myeloid cells to a secondary challenge, despite their short lifespan in circulation. We thus hypothesized that trained immunity acts via modulation of hematopoietic stem and progenitor cells (HSPCs). Administration of β-glucan (prototypical trained-immu...


    pub_type: 杂志文章


    authors: Mitroulis I,Ruppova K,Wang B,Chen LS,Grzybek M,Grinenko T,Eugster A,Troullinaki M,Palladini A,Kourtzelis I,Chatzigeorgiou A,Schlitzer A,Beyer M,Joosten LAB,Isermann B,Lesche M,Petzold A,Simons K,Henry I,Dahl A,Sch

    更新日期:2018-01-11 00:00:00

  • Direct repeats as selective response elements for the thyroid hormone, retinoic acid, and vitamin D3 receptors.

    abstract::We report here the identification of thyroid hormone response elements (TREs) that consist of a direct repeat, not a palindrome, of the half-sites. Unlike palindromic TREs, direct repeat TREs do not confer a retinoic acid response. The tandem TRE can be converted into a retinoic acid response element by increasing the...


    pub_type: 杂志文章


    authors: Umesono K,Murakami KK,Thompson CC,Evans RM

    更新日期:1991-06-28 00:00:00

  • Characterization of two xenopus somatic 5S DNAs and one minor oocyte-specific 5S DNA.

    abstract::The somatic 5S DNA from X. borealis (Xbs 5S DNA) and X. laevis (Xis 5S DNA) and a minor oocyte-specific 5S DNA from X. laevis (Xit 5S DNA) have been purified, and individual repeating units have been cloned and sequenced. The two somatic 5S DNAs differ from the major oocyte 5S DNAs in having GC-rich spacers, homogeneo...


    pub_type: 杂志文章


    authors: Peterson RC,Doering JL,Brown DD

    更新日期:1980-05-01 00:00:00

  • CPEB, maskin, and cyclin B1 mRNA at the mitotic apparatus: implications for local translational control of cell division.

    abstract::In Xenopus development, the expression of several maternal mRNAs is regulated by cytoplasmic polyadenylation. CPEB and maskin, two factors that control polyadenylation-induced translation are present on the mitotic apparatus of animal pole blastomeres in embryos. Cyclin B1 protein and mRNA, whose translation is regula...


    pub_type: 杂志文章


    authors: Groisman I,Huang YS,Mendez R,Cao Q,Theurkauf W,Richter JD

    更新日期:2000-10-27 00:00:00

  • Self-Assembling Nanoparticles Usher in a New Era of Vaccine Design.

    abstract::In this issue, Marcandalli et al. (2019) report a self-assembling nanoparticle bearing an antigen from respiratory syncytial virus. This is the first time the structure, stability, and adjuvanticity of an antigen have been rationally designed at the atomic level and incorporated in one vaccine. ...


    pub_type: 评论,杂志文章


    authors: Rappuoli R,Serruto D

    更新日期:2019-03-07 00:00:00

  • The unusual conformation adopted by the adenine tracts in kinetoplast DNA.

    abstract::To determine the structural features responsible for the curvature of kinetoplast DNA, we studied 13 adenine tracts in Crithidia fasciculata kinetoplast DNA. The structures of the A tracts were analyzed by cutting the DNA with hydroxyl radical. Reactivity of hydroxyl radical toward the DNA backbone progressively decre...


    pub_type: 杂志文章


    authors: Burkhoff AM,Tullius TD

    更新日期:1987-03-27 00:00:00

  • Histone methylation-dependent mechanisms impose ligand dependency for gene activation by nuclear receptors.

    abstract::Nuclear receptors undergo ligand-dependent conformational changes that are required for corepressor-coactivator exchange, but whether there is an actual requirement for specific epigenetic landmarks to impose ligand dependency for gene activation remains unknown. Here we report an unexpected and general strategy that ...


    pub_type: 杂志文章


    authors: Garcia-Bassets I,Kwon YS,Telese F,Prefontaine GG,Hutt KR,Cheng CS,Ju BG,Ohgi KA,Wang J,Escoubet-Lozach L,Rose DW,Glass CK,Fu XD,Rosenfeld MG

    更新日期:2007-02-09 00:00:00

  • Cellular and molecular signatures of muscle regeneration: current concepts and controversies in adult myogenesis.

    abstract::Adult skeletal muscle generates force in a controlled and directed manner through the contraction of highly specialized, postmitotic, multinucleated myofibers. Life-long muscle function relies on maintenance and regeneration of myofibers through a highly regulated process beginning with activation of normally quiescen...


    pub_type: 杂志文章,评审


    authors: Wagers AJ,Conboy IM

    更新日期:2005-09-09 00:00:00

  • Oncogenic activity of the c-Myc protein requires dimerization with Max.

    abstract::c-Myc (Myc) and Max proteins dimerize and bind DNA through basic-helix-loop-helix-leucine zipper motifs (b-HLH-LZ). Using a genetic approach, we demonstrate that binding to Max is essential for Myc transforming activity and that Myc homodimers are inactive. Mutants of Myc and Max that bind efficiently to each other bu...


    pub_type: 杂志文章


    authors: Amati B,Brooks MW,Levy N,Littlewood TD,Evan GI,Land H

    更新日期:1993-01-29 00:00:00

  • Immunosurveillance by hematopoietic progenitor cells trafficking through blood, lymph, and peripheral tissues.

    abstract::Constitutive egress of bone marrow (BM)-resident hematopoietic stem and progenitor cells (HSPCs) into the blood is a well-established phenomenon, but the ultimate fate and functional relevance of circulating HSPCs is largely unknown. We show that mouse thoracic duct (TD) lymph contains HSPCs that possess short- and lo...


    pub_type: 杂志文章


    authors: Massberg S,Schaerli P,Knezevic-Maramica I,Köllnberger M,Tubo N,Moseman EA,Huff IV,Junt T,Wagers AJ,Mazo IB,von Andrian UH

    更新日期:2007-11-30 00:00:00

  • The Rule of Three for Prizes in Science and the Bold Triptychs of Francis Bacon.

    abstract::For many scientific awards, such as Nobels and Laskers, the maximum number of recipients is three. This Rule of Three forces selection committees to make difficult decisions that increase the likelihood of singling out those individuals who open a new field and continue to lead it. The Rule of Three is reminiscent of ...


    pub_type: 杂志文章


    authors: Goldstein JL

    更新日期:2016-09-22 00:00:00

  • Identification of the cell fate gene stalky in Dictyostelium.

    abstract::Using insertional mutagenesis, we have isolated a "stalky" mutant in which cells destined to become spores end up as stalk cells. Similar mutants were previously observed after chemical mutagenesis, but the affected gene could not be isolated. Our mutant, like the previous ones, is in stkA. Its defect is cell-autonomo...


    pub_type: 杂志文章


    authors: Chang WT,Newell PC,Gross JD

    更新日期:1996-11-01 00:00:00

  • CD83 expression influences CD4+ T cell development in the thymus.

    abstract::T lymphocyte selection and lineage commitment in the thymus requires multiple signals. Herein, CD4+ T cell generation required engagement of CD83, a surface molecule expressed by thymic epithelial and dendritic cells. CD83-deficient (CD83-/-) mice had a specific block in CD4+ single-positive thymocyte development with...


    pub_type: 杂志文章


    authors: Fujimoto Y,Tu L,Miller AS,Bock C,Fujimoto M,Doyle C,Steeber DA,Tedder TF

    更新日期:2002-03-22 00:00:00

  • An altered pattern of cross-resistance in multidrug-resistant human cells results from spontaneous mutations in the mdr1 (P-glycoprotein) gene.

    abstract::Multidrug resistance in human cells results from increased expression of the mdr1 (P-glycoprotein) gene. Although the same gene is activated in cells selected with different drugs, multidrug-resistant cell lines can be preferentially resistant to their selecting agent. The mdr1 cDNA sequence from vinblastine-selected ...


    pub_type: 杂志文章


    authors: Choi KH,Chen CJ,Kriegler M,Roninson IB

    更新日期:1988-05-20 00:00:00

  • Secretion and localized transcription suggest a role in positional signaling for products of the segmentation gene hedgehog.

    abstract::The segment polarity genes engrailed and wingless are expressed in neighboring stripes of cells on opposite sides of the Drosophila parasegment boundary. Each gene is mutually required for maintenance of the other's expression; continued expression of both also requires several other segment polarity genes. We show he...


    pub_type: 杂志文章


    authors: Lee JJ,von Kessler DP,Parks S,Beachy PA

    更新日期:1992-10-02 00:00:00

  • Decoding neural circuits that control compulsive sucrose seeking.

    abstract::The lateral hypothalamic (LH) projection to the ventral tegmental area (VTA) has been linked to reward processing, but the computations within the LH-VTA loop that give rise to specific aspects of behavior have been difficult to isolate. We show that LH-VTA neurons encode the learned action of seeking a reward, indepe...


    pub_type: 杂志文章


    authors: Nieh EH,Matthews GA,Allsop SA,Presbrey KN,Leppla CA,Wichmann R,Neve R,Wildes CP,Tye KM

    更新日期:2015-01-29 00:00:00

  • Yeast life span extension by depletion of 60s ribosomal subunits is mediated by Gcn4.

    abstract::In nearly every organism studied, reduced caloric intake extends life span. In yeast, span extension from dietary restriction is thought to be mediated by the highly conserved, nutrient-responsive target of rapamycin (TOR), protein kinase A (PKA), and Sch9 kinases. These kinases coordinately regulate various cellular ...


    pub_type: 杂志文章


    authors: Steffen KK,MacKay VL,Kerr EO,Tsuchiya M,Hu D,Fox LA,Dang N,Johnston ED,Oakes JA,Tchao BN,Pak DN,Fields S,Kennedy BK,Kaeberlein M

    更新日期:2008-04-18 00:00:00

  • Isolation of a circular derivative of yeast chromosome III: implications for the mechanism of mating type interconversion.

    abstract::We describe genetic and physical characterization of rearrangements of chromosome III which result in changes of cell type in S. cerevisiae. Two types of rearrangements were obtained as rare events which caused a change at the locus controlling cell type, MAT, associated with a recessive lethal mutation, in one case f...


    pub_type: 杂志文章


    authors: Strathern JN,Newlon CS,Herskowitz I,Hicks JB

    更新日期:1979-10-01 00:00:00

  • Family of proteins that interact with TFIID and regulate promoter activity.

    abstract::A family of proteins was shown to bind cooperatively with TFIID to core promoters, as previously demonstrated for the general initiation factor TFIIA. These factors form distinct complexes with TFIID, fail to bind DNA in the absence of TFIID, differ chromatographically from TFIIA, and compete with TFIIA for binding to...


    pub_type: 杂志文章


    authors: Meisterernst M,Roeder RG

    更新日期:1991-11-01 00:00:00

  • A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

    abstract::Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a genetic disorder whose symptoms include obesity, retinal degeneration, and nephropathy. However, despite the identification of 12 BBS genes, the molecular basis of BBS remains elusive. Here we identify a complex composed of seven h...


    pub_type: 杂志文章


    authors: Nachury MV,Loktev AV,Zhang Q,Westlake CJ,Peränen J,Merdes A,Slusarski DC,Scheller RH,Bazan JF,Sheffield VC,Jackson PK

    更新日期:2007-06-15 00:00:00

  • The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor.

    abstract::Voltage-gated calcium channels play a central role in regulating the electrical and biochemical properties of neurons and muscle cells. One of the ways in which calcium channels regulate long-lasting neuronal properties is by activating signaling pathways that control gene expression, but the mechanisms that link calc...


    pub_type: 杂志文章


    authors: Gomez-Ospina N,Tsuruta F,Barreto-Chang O,Hu L,Dolmetsch R

    更新日期:2006-11-03 00:00:00

  • Genome regulation by polycomb and trithorax proteins.

    abstract::Polycomb group (PcG) and trithorax group (trxG) proteins are critical regulators of numerous developmental genes. To silence or activate gene expression, respectively, PcG and trxG proteins bind to specific regions of DNA and direct the posttranslational modification of histones. Recent work suggests that PcG proteins...


    pub_type: 杂志文章,评审


    authors: Schuettengruber B,Chourrout D,Vervoort M,Leblanc B,Cavalli G

    更新日期:2007-02-23 00:00:00

  • Mutant PTEN in Cancer: Worse Than Nothing.

    abstract::Tumor suppressors block the development of cancer and are often lost during tumor development. Papa et al. show that partial loss of normal PTEN tumor suppressor function can be compounded by additional disruption caused by the expression of inactive mutant PTEN protein. This has significant implications for patients ...


    pub_type: 评论,杂志文章


    authors: Leslie NR,den Hertog J

    更新日期:2014-04-24 00:00:00