A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells

被引：0
|
作者：
Rossella De Cegli
Simona Iacobacci
Anthony Fedele
Andrea Ballabio
Diego di Bernardo
机构：
[1] Telethon Institute of Genetics and Medicine (TIGEM),Lysosomal Diseases Research Unit
[2] South Australian Health and Medical Research Institute,Medical Genetics Unit, Department of Medical and Translational Science
[3] Federico II University,Department of Molecular and Human Genetics
[4] Jan and Dan Duncan Neurological Research Institute,Department of Chemical, Materials and Industrial Engineering
[5] Baylor College of Medicine,undefined
[6] University of Naples ‘Federico II’,undefined
来源：
Scientific Data | / 6卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Williams-Beuren syndrome (WBS) is a relatively rare disease caused by the deletion of 1.5 to 1.8 Mb on chromosome 7 which contains approximately 28 genes. This multisystem disorder is mainly characterized by supravalvular aortic stenosis, mental retardation, and distinctive facial features. We generated mouse embryonic stem (ES) cells clones expressing each of the 4 human WBS genes (WBSCR1, GTF2I, GTF2IRD1 and GTF2IRD2) found in the specific delated region 7q11.23 causative of the WBS. We generated at least three stable clones for each gene with stable integration in the ROSA26 locus of a tetracycline-inducible upstream of the coding sequence of the genet tagged with a 3xFLAG epitope. Three clones for each gene were transcriptionally profiled in inducing versus non-inducing conditions for a total of 24 profiles. This small collection of human WBS-ES cell clones represents a resource to facilitate the study of the function of these genes during differentiation.
引用
收藏
相关论文
共 50 条
  • [1] A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells
    De Cegli, Rossella
    Iacobacci, Simona
    Fedele, Anthony
    Ballabio, Andrea
    di Bernardo, Diego
    [J]. SCIENTIFIC DATA, 2019, 6 (1)
  • [2] Williams-Beuren syndrome: genes and mechanisms
    Francke, U
    [J]. HUMAN MOLECULAR GENETICS, 1999, 8 (10) : 1947 - 1954
  • [3] Williams-Beuren syndrome (Williams syndrome)
    Miklos Gyorgyi
    Fekete Gyorgy
    Haltrich Iren
    Toth Miklos
    Reismann Peter
    [J]. ORVOSI HETILAP, 2017, 158 (47) : 1883 - 1888
  • [4] Williams-Beuren syndrome
    Menegazzi, JJ
    [J]. SCIENCE, 2006, 311 (5767) : 1552 - 1552
  • [5] Williams-Beuren syndrome
    Weng, Chun-Ying
    Chang, Yu-Hsun
    Chang, Li-Shu
    Su, Yi-Ning
    Chu, Shao-Yin
    Lee, Ming-Liang
    [J]. TZU CHI MEDICAL JOURNAL, 2012, 24 (01): : 28 - 29
  • [6] Williams-Beuren Syndrome
    Spoddig, Jana
    [J]. SPRACHE-STIMME-GEHOR, 2023, 47 (04): : 186 - 187
  • [7] Williams-Beuren syndrome
    Azurmendi, Pablo
    [J]. MEDICINA-BUENOS AIRES, 2013, 73 (01) : 83 - 84
  • [8] Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development
    Enkhmandakh, Badam
    Makeyev, Aleksandr V.
    Erdenechimeg, Lkhamsuren
    Ruddle, Frank H.
    Chimge, Nyam-Osor
    Tussie-Luna, Maria Isabel
    Roy, Ananda L.
    Bayarsaihan, Dashzeveg
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (01) : 181 - 186
  • [9] Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype
    Tordjman, Sylvie
    Anderson, George M.
    Botbol, Michel
    Toutain, Annick
    Sarda, Pierre
    Carlier, Michele
    Saugier-Veber, Pascale
    Baumann, Clarisse
    Cohen, David
    Lagneaux, Celine
    Tabet, Anne-Claude
    Verloes, Alain
    [J]. PLOS ONE, 2012, 7 (03):
  • [10] Williams-Beuren Syndrome.
    Game, Xavier
    Panicker, Jalesh
    Fowler, Clare J.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2010, 362 (15): : 1449 - 1449
12345