INI1

Summary

Gene Symbol: INI1
Description: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Alias: BAF47, CSS3, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1, BRG1-associated factor 47, SNF5 homolog, SWI/SNF-related matrix-associated protein, hSNF5, integrase interactor 1 protein, malignant rhabdoid tumor suppressor, protein phosphatase 1, regulatory subunit 144, sucrose nonfermenting, yeast, homolog-like 1
Species: human

Top Publications

  1. ncbi Inhibition of HIV-1 virion production by a transdominant mutant of integrase interactor 1
    E Yung
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA
    Nat Med 7:920-6. 2001
  2. pmc A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis
    Errol Craig
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, NY 10461, USA
    EMBO J 21:31-42. 2002
  3. pmc Specificity of interaction of INI1/hSNF5 with retroviral integrases and its functional significance
    Eric Yung
    Department of Molecular Genetics, Albert Einstein College of Medicine, New York, New York 10461, USA
    J Virol 78:2222-31. 2004
  4. doi Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis
    C Boyd
    Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
    Clin Genet 74:358-66. 2008
  5. pmc Chromatin dynamics associated with HIV-1 Tat-activated transcription
    Rebecca Easley
    The George Washington University Medical Center, Department of Microbiology, Immunology, and Tropical Medicine, Washington, DC 20037, USA
    Biochim Biophys Acta 1799:275-85. 2010
  6. ncbi The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors
    Jaclyn A Biegel
    Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Res 62:323-8. 2002
  7. ncbi Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits
    M L Phelan
    Department of Molecular Biology, Massachusetts General Hospital, Boston 02114, USA
    Mol Cell 3:247-53. 1999
  8. doi Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
    Costanza Bacci
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
    Neurogenetics 11:73-80. 2010
  9. pmc SNF5 reexpression in malignant rhabdoid tumors regulates transcription of target genes by recruitment of SWI/SNF complexes and RNAPII to the transcription start site of their promoters
    Yasumichi Kuwahara
    Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA
    Mol Cancer Res 11:251-60. 2013
  10. ncbi INI1 expression induces cell cycle arrest and markers of senescence in malignant rhabdoid tumor cells
    Britta S Reincke
    Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    J Cell Physiol 194:303-13. 2003

Research Grants

  1. Role of hsnf5/BAF47 Loss in Human Cancer Development
    Bernard E Weissman; Fiscal Year: 2012
  2. GENETICS OF PEDIATRIC RHABDOID TUMORS
    Jaclyn A Biegel; Fiscal Year: 2012
  3. Analysis of the Novel Tumor Suppressor Gene SNF5/INI1
    Charles Roberts; Fiscal Year: 2006
  4. MICHELLE SANG HSIANG; Fiscal Year: 2016
  5. Epigenetic and clinical impact of SMARCB1 loss in cancer
    Elizabeth J Perlman; Fiscal Year: 2013
  6. 2012 Neurofibromatosis (NF) Conference
    Brigitte Widemann; Fiscal Year: 2012
  7. Paul Yager; Fiscal Year: 2015
  8. The Swi/Snf tumor suppressor in stem cell self-renewal and pluripotency
    BORIS G WILSON; Fiscal Year: 2011
  9. Gerald R Crabtree; Fiscal Year: 2016
  10. Protein-Protein Interactions of HIV-1 Integrase
    Ganjam V Kalpana; Fiscal Year: 2010

Detail Information

Publications226 found, 100 shown here

  1. ncbi Inhibition of HIV-1 virion production by a transdominant mutant of integrase interactor 1
    E Yung
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA
    Nat Med 7:920-6. 2001
    Integase interactor 1 (INI1), also known as hSNF5, is a protein that interacts with HIV-1 integrase...
  2. pmc A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis
    Errol Craig
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, NY 10461, USA
    EMBO J 21:31-42. 2002
    INI1 (integrase interactor 1)/hSNF5 is a component of the mammalian SWI/SNF complex and a tumor suppressor mutated in malignant rhabdoid tumors (MRT)...
  3. pmc Specificity of interaction of INI1/hSNF5 with retroviral integrases and its functional significance
    Eric Yung
    Department of Molecular Genetics, Albert Einstein College of Medicine, New York, New York 10461, USA
    J Virol 78:2222-31. 2004
    Integrase interactor 1 (INI1)/hSNF5 is a host factor that directly interacts with human immunodeficiency virus type 1 (HIV-1) integrase and is incorporated into HIV-1 virions...
  4. doi Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis
    C Boyd
    Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
    Clin Genet 74:358-66. 2008
    ..is a third major form of neurofibromatosis that has recently been linked to mutations in the SMARCB1 (hSnf5/INI1) tumor suppressor gene...
  5. pmc Chromatin dynamics associated with HIV-1 Tat-activated transcription
    Rebecca Easley
    The George Washington University Medical Center, Department of Microbiology, Immunology, and Tropical Medicine, Washington, DC 20037, USA
    Biochim Biophys Acta 1799:275-85. 2010
    ..Finally, we cover recent literature on viral microRNAs which have been shown to alter chromatin structure by inducing methylation or even by remodeling nucleosomes...
  6. ncbi The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors
    Jaclyn A Biegel
    Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Cancer Res 62:323-8. 2002
    ..A detailed summary of the discussions regarding diagnostic studies and the roles for radiation therapy, chemotherapy, and bone marrow or stem cell transplant in the treatment of rhabdoid tumors will be published separately...
  7. ncbi Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits
    M L Phelan
    Department of Molecular Biology, Massachusetts General Hospital, Boston 02114, USA
    Mol Cell 3:247-53. 1999
    ..The addition of INI1, BAF155, and BAF170 to BRG1 increases remodeling activity to a level comparable to that of the whole hSWI/SNF ..
  8. doi Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
    Costanza Bacci
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
    Neurogenetics 11:73-80. 2010
    ..RNA studies verified the absence of mRNA transcribed by the mutant allele. This is the first report of a SMARCB1 germline mutation in a family with schwannomatosis characterized by the development of multiple meningiomas...
  9. pmc SNF5 reexpression in malignant rhabdoid tumors regulates transcription of target genes by recruitment of SWI/SNF complexes and RNAPII to the transcription start site of their promoters
    Yasumichi Kuwahara
    Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA
    Mol Cancer Res 11:251-60. 2013
    Malignant rhabdoid tumor (MRT), a highly aggressive cancer of young children, displays inactivation or loss of the hSNF5/INI1/SMARCB1 gene, a core subunit of the SWI/SNF chromatin-remodeling complex, in primary tumors and cell lines...
  10. ncbi INI1 expression induces cell cycle arrest and markers of senescence in malignant rhabdoid tumor cells
    Britta S Reincke
    Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    J Cell Physiol 194:303-13. 2003
    The INI1 gene, which encodes a functionally uncharacterized protein component of the hSWI/SNF chromatin remodeling complex, is often mutated or deleted in malignant rhabdoid tumor (MRT)...
  11. pmc Germline mutation of INI1/SMARCB1 in familial schwannomatosis
    Theo J M Hulsebos
    Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 80:805-10. 2007
    ..We report an inactivating germline mutation in exon 1 of the tumor-suppressor gene INI1 in a father and daughter who both had schwannomatosis...
  12. pmc Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium
    Ludvik R Donner
    Department of Pathology, Scott and White Memorial Hospital and Clinic, Scott, Sherwood and Brindley Foundation, Texas A and M University Health Science Center College of Medicine, Temple, TX 76508, USA
    Hum Pathol 38:935-9. 2007
    ..Pediatric rhabdoid tumors are characterized by the inactivation of the hSNF5/INI1/SMARCB1 gene, with subsequent loss of expression of the protein...
  13. doi Intact INI1 gene region with paradoxical loss of protein expression in AT/RT: implications for a possible novel mechanism associated with absence of INI1 protein immunoreactivity
    Chan Yen Tsai
    Institute of Microbiology and Immunology, National Yang Ming University, Taiwan
    Am J Surg Pathol 36:128-33. 2012
    ..relies primarily on the morphologic assessment and immunostaining of a few known markers, such as the lack of INI1 protein expression...
  14. pmc Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation
    Jodi M Carter
    Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Canada
    Am J Surg Pathol 36:154-60. 2012
    ..Subsequent genetic evaluation revealed the presence of a novel germline mutation in the SMARCB1/INI1 gene in the patient and in 3 of her children, 2 of whom were diagnosed with atypical teratoid/rhabdoid tumors of ..
  15. pmc Inhibition of early stages of HIV-1 assembly by INI1/hSNF5 transdominant negative mutant S6
    Jennifer Cano
    Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 1046, USA
    J Virol 85:2254-65. 2011
    INI1/hSNF5 is an HIV-1 integrase (IN) binding protein specifically incorporated into virions...
  16. ncbi Chromatin remodeling factor encoded by ini1 induces G1 arrest and apoptosis in ini1-deficient cells
    Keisuke Ae
    Division of Molecular Genetics, National Institute of Infectious Diseases, Gakuen 4 7 1, Musashimurayama, Tokyo 208 0011, Japan
    Oncogene 21:3112-20. 2002
    Ini1/hsnf5 gene encodes INI1 protein, a chromatin remodeling factor associated with the SWI/SNF complex. In yeast, this complex modifies chromatin condensation to coactivate various transcriptional factors...
  17. ncbi Cellular co-factors of HIV-1 integration
    Bénédicte Van Maele
    Molecular Virology and Gene Therapy, Molecular Medicine, KULAK and K U Leuven, Kapucijnenvoer 33 3000 Leuven, Flanders, Belgium
    Trends Biochem Sci 31:98-105. 2006
    ..Although a direct role in integration has only been demonstrated for LEDGF/p75, to date, each validated cellular co-factor for HIV-1 integration could constitute a promising new target for antiviral therapy...
  18. pmc Human SNF5/INI1, a component of the human SWI/SNF chromatin remodeling complex, promotes nucleotide excision repair by influencing ATM recruitment and downstream H2AX phosphorylation
    Alo Ray
    Department of Radiology, The Ohio State University, Columbus, OH 43210, USA
    Mol Cell Biol 29:6206-19. 2009
    ..Here, we show that the human SWI/SNF component human SNF5 (hSNF5) interacts with UV damage recognition factor XPC and colocalizes with XPC at the damage site...
  19. ncbi Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling
    K Zhao
    Howard Hughes Medical Institute, Department of Developmental Biology, Stanford University, California 94305 5323, USA
    Cell 95:625-36. 1998
    ..This work indicates that membrane signals control the activity of the mammalian SWI/SNF or BAF complex and demonstrates a direct interface between signaling and chromatin regulation...
  20. doi Integrase interactor 1 (Ini1/hSNF5) is a repressor of basal human immunodeficiency virus type 1 promoter activity
    Annette Boese
    Institut Pasteur Korea, 696 Sampyeong dong, Bundang gu, Seongnam si, Gyeonggi do 463 400, Republic of Korea
    J Gen Virol 90:2503-12. 2009
    Integrase interactor 1 (Ini1/hSNF5/BAF47/SMARCB1), the core subunit of the ATP-dependent chromatin-remodelling complex SWI/SNF, is a cellular interaction partner of the human immunodeficiency virus type 1 (HIV-1) integrase...
  21. ncbi Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5
    G V Kalpana
    Howard Hughes Medical Institute, Department of Biochemistry and Molecular Biophysics, Columbia University, College of Physicians and Surgeons, New York, NY 10032
    Science 266:2002-6. 1994
    ..The sequence of the gene suggests that the protein is a human homolog of yeast SNF5, a transcriptional activator required for high-level expression of many genes...
  22. ncbi Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors
    J A Biegel
    The Children s Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, 19104, USA
    Cancer Res 59:74-9. 1999
    ..brain and 7 renal and 4 extrarenal rhabdoid tumors for mutations in the candidate rhabdoid tumor suppressor gene, INI1. Fifteen tumors had homozygous deletions of one or more exons of the INI1 gene, and the other 14 tumors ..
  23. ncbi Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors
    Andrew C Hoot
    Department of Pathology, Children s Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Am J Surg Pathol 28:1485-91. 2004
    ..Molecular genetic analysis of MRT frequently demonstrates deletion or mutation of the hSNF5/INI1 gene, with corresponding reduced expression at the protein level...
  24. pmc Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint
    Robert G J Vries
    Department of Molecular and Cell Biology, Leiden University Medical Centre, 2300 RA Leiden, The Netherlands
    Genes Dev 19:665-70. 2005
    The hSNF5 subunit of human SWI/SNF ATP-dependent chromatin remodeling complexes is a tumor suppressor that is inactivated in malignant rhabdoid tumors (MRTs)...
  25. ncbi INI1 induces interferon signaling and spindle checkpoint in rhabdoid tumors
    Alexei Morozov
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Clin Cancer Res 13:4721-30. 2007
    Rhabdoid tumors are rare but aggressive pediatric malignancies characterized by biallelic loss of INI1/hSNF5. Reintroduction of INI1 causes cell arrest and senescence in rhabdoid cells...
  26. ncbi Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology
    Alexander R Judkins
    Department of Pathology and Laboratory Medicine, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Adv Anat Pathol 14:335-9. 2007
    Immunohistochemical staining for INI1 (BAF47) expression has been recently described...
  27. pmc Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas
    Portia A Kreiger
    Department of Pathology and Laboratory Medicine, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Mod Pathol 22:142-50. 2009
    ..genetic investigations of malignant rhabdoid tumor have revealed a characteristic loss of or mutation in the INI1 gene on chromosome 22q...
  28. pmc Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors
    Eric M Jackson
    Department of Neurosurgery and Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Clin Cancer Res 15:1923-30. 2009
    A high-resolution genomic profiling and comprehensive targeted analysis of INI1/SMARCB1 of a large series of pediatric rhabdoid tumors was done...
  29. pmc Multimerization and DNA binding properties of INI1/hSNF5 and its functional significance
    Supratik Das
    Department of Molecular Genetics, Albert Einstein College of Medicine, New York, New York 10461, USA
    J Biol Chem 284:19903-14. 2009
    INI1/hSNF5/BAF47/SMARCB1 is an HIV-1 integrase (IN)-binding protein that modulates viral replication in multiple ways...
  30. pmc Functional coupling between HIV-1 integrase and the SWI/SNF chromatin remodeling complex for efficient in vitro integration into stable nucleosomes
    Paul Lesbats
    Laboratoire MCMP, UMR 5234 CNRS Université Victor Segalen Bordeaux 2, Bordeaux, France
    PLoS Pathog 7:e1001280. 2011
    ..Remodeling of the chromatinized template by the SWI/SNF complex, whose INI1 major component interacts with IN, restores and redirects the full-site integration into the stable nucleosome ..
  31. ncbi Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA
    D Lee
    Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Taejon
    Nature 399:487-91. 1999
    ..Using this assay, we isolated Inil/hSNF5, a component of the SWI/SNF complex which facilitates transcription by altering the structure of chromatin...
  32. ncbi SWI/SNF complex interacts with tumor suppressor p53 and is necessary for the activation of p53-mediated transcription
    Daeyoup Lee
    Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 305 701, Korea
    J Biol Chem 277:22330-7. 2002
    ..The transactivation function of p53 is stimulated by overexpression of hSNF5 and BRG-1 and dominant forms of hSNF5 and BRG-1 repress p53-dependent transcription...
  33. pmc Mitotic inactivation of a human SWI/SNF chromatin remodeling complex
    S Sif
    Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Genes Dev 12:2842-51. 1998
    ..We propose that this transitional inactivation and reactivation of hSWI/SNF is required for formation of a repressed chromatin structure during mitosis and reformation of an active chromatin structure as cells leave mitosis...
  34. pmc Contribution of the C-terminal region within the catalytic core domain of HIV-1 integrase to yeast lethality, chromatin binding and viral replication
    Zaikun Xu
    Laboratory of Molecular Human Retrovirology, Department of Medical Microbiology, University of Manitoba, 508 730 William Avenue, Winnipeg, R3E 0W3, Canada
    Retrovirology 5:102. 2008
    ....
  35. pmc Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins
    H T Adler
    VA Puget Sound Health Care System, Seattle, Washington 98108, USA
    Mol Cell Biol 19:7050-60. 1999
    ..We also show here that GADD34 binds the human SNF5/INI1 protein, a member of the SNF/SWI complex that can remodel chromatin and activate transcription...
  36. pmc Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers
    N Sevenet
    Laboratoire de Pathologie Moléculaire des Cancers, INSERM U 509, Institut Curie, Paris, France
    Am J Hum Genet 65:1342-8. 1999
    Biallelic, truncating mutations of the hSNF5/INI1 gene have recently been documented in malignant rhabdoid tumor (MRT), one of the most aggressive human cancers...
  37. pmc Transcriptional activation domains of human heat shock factor 1 recruit human SWI/SNF
    E K Sullivan
    Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA
    Mol Cell Biol 21:5826-37. 2001
    ....
  38. ncbi Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification
    Hironori Fujisawa
    Department of Neurosurgery, Graduate School of Medical Science, Kanazawa University, Ishikawa, Japan
    J Neurooncol 63:257-62. 2003
    The authors report a case of the rhabdoid predisposition syndrome (RPS) secondary to a germline hSNF5/INI1 mutation, whose brain tumor was originally unclassified but finally diagnosed as an atypical teratoid/rhabdoid tumor (AT/RT) by ..
  39. ncbi HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins
    Bénédicte Van Maele
    Laboratory for Molecular Virology and Gene Therapy, KULAK and KULeuven, Flanders, Belgium
    AIDS Rev 7:26-43. 2005
    ..In this review we summarize the candidate cellular proteins involved in the HIV-1 integration process identified so far and discuss their potential roles during HIV-1 replication...
  40. ncbi Model of full-length HIV-1 integrase complexed with viral DNA as template for anti-HIV drug design
    Rajeshri G Karki
    Laboratory of Medicinal Chemistry, Center for Cancer Research, National Cancer Institute, National Institutes of Health, DHHS, Frederick, MD 21702, USA
    J Comput Aided Mol Des 18:739-60. 2004
    ..The results indicate that the diketo-acid IN inhibitors probably chelate the metal ion in the catalytic site and also prevent the exposure of the 3'-processed end of the viral DNA to human DNA...
  41. pmc Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome
    A C J Ammerlaan
    Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands
    Br J Cancer 98:474-9. 2008
    Rhabdoid tumour predisposition syndrome (RTPS) is a rare syndrome caused by inheritance of a mutated INI1 gene for which only two multigeneration families have been reported...
  42. pmc Recruitment of a SAP18-HDAC1 complex into HIV-1 virions and its requirement for viral replication
    Masha Sorin
    Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America
    PLoS Pathog 5:e1000463. 2009
    ..HIV-1 integrase (IN) is a virally encoded protein required for integration of viral cDNA into host chromosomes. INI1/hSNF5 is a component of the SWI/SNF complex that interacts with HIV-1 IN, is selectively incorporated into HIV-1 (but ..
  43. pmc Epstein-Barr virus nuclear protein 2 (EBNA2) binds to a component of the human SNF-SWI complex, hSNF5/Ini1
    D Y Wu
    Department of Medicine, Veterans Affairs Medical Center, Seattle, Washington 98108, USA
    J Virol 70:6020-8. 1996
    ..In the present study, we show that EBNA2 also interacts with hSNF5/Ini1, the human homolog of the yeast transcription factor SNF5...
  44. ncbi Diversity and specialization of mammalian SWI/SNF complexes
    W Wang
    Howard Hughes Medical Institute, Department of Developmental Biology, Stanford University, California 94305 5428, USA
    Genes Dev 10:2117-30. 1996
    ..The observed similarity between mammalian BAF190, BAF170, BAF155, BAF60, and BAF47 and yeast SNF2/SWI2, SWI3, SWI3, SWP73, and SNF5, respectively, underscores the similarity of the mammalian and ..
  45. pmc Components of the human SWI/SNF complex are enriched in active chromatin and are associated with the nuclear matrix
    J C Reyes
    Unite des Virus Oncogenes, UA1644 du Centre National de la Recherche Scientifique, Departement des Biotechnologies, Institut Pasteur, Paris, France
    J Cell Biol 137:263-74. 1997
    ....
  46. ncbi P16INK4a is required for hSNF5 chromatin remodeler-induced cellular senescence in malignant rhabdoid tumor cells
    Igor Oruetxebarria
    Gene Regulation Laboratory and Center for Biomedical Genetics, Leiden University Medical Center, The Netherlands
    J Biol Chem 279:3807-16. 2004
    The hSNF5 chromatin-remodeling factor is a tumor suppressor that is inactivated in malignant rhabdoid tumors (MRTs). A number of studies have shown that hSNF5 re-expression blocks MRT cell proliferation...
  47. pmc CKII site in Epstein-Barr virus nuclear protein 2 controls binding to hSNF5/Ini1 and is important for growth transformation
    Bogaslaw Kwiatkowski
    VA Puget Sound Health Care System, S 111 ONC, 1660 S Columbian Way, Seattle, WA 98108, USA
    J Virol 78:6067-72. 2004
    Substitution mutagenesis of EBNA2 shows that its interaction with hSNF5/Ini1 involves two sites (286IPP and DQQ313), and a mutation at a CKII phosphorylation site (SS469) is essential for the interaction...
  48. ncbi Ini1/hSNF5 is dispensable for retrovirus-induced cytoplasmic accumulation of PML and does not interfere with integration
    Annette Boese
    Unité de Biologie Cellulaire du Noyau, Institut Pasteur, 28 rue du Dr Roux, Paris, France
    FEBS Lett 578:291-6. 2004
    ..the cytoplasmic translocation of two Crm1-dependent shuttle factors, namely the Ini1 (integrase interactor 1, hSNF5) and the promyelocytic leukemia (PML) protein...
  49. ncbi INI1/hSNF5/BAF47 represses c-fos transcription via a histone deacetylase-dependent manner
    Xuefang Pan
    Institute of Genetics and Cytology, School of Life Science, Northeast Normal University, Changchun, 130024 Jilin, China
    Biochem Biophys Res Commun 337:1052-8. 2005
    INI1/hSNF5/BAF47 is a core component of the hSWI/SNF ATP-dependent chromatin-remodeling complex. It has been suggested that INI1/hSNF5/BAF47 contributes to the regulation of many genes...
  50. doi SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma
    Kenichi Kohashi
    Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Maidashi 3 1 1, Higashi ku, Fukuoka, Japan
    Am J Surg Pathol 32:1168-74. 2008
    Several previous studies have demonstrated the lack of SMARCB1/INI1 protein expression in only the malignant rhabdoid tumor (MRT). Several sarcoma groups are associated with a tumor-specific translocation involving EWS...
  51. doi Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma
    Jason L Hornick
    Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Am J Surg Pathol 33:542-50. 2009
    INI1 (hSNF5/SMARCB1), a member of the SWI/SNF chromatin remodeling complex located on chromosome 22q11.2, is deleted or/or mutated in strictly defined malignant rhabdoid tumors (MRT) of infancy...
  52. doi Maturation of the HIV reverse transcription complex: putting the jigsaw together
    David Warrilow
    Division of Infectious Diseases, Queensland Institute of Medical Research, Brisbane, Queensland 4006, Australia
    Rev Med Virol 19:324-37. 2009
    ..Determining precisely how these proteins assist the RTC function needs to be addressed...
  53. doi Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor
    Franck Bourdeaut
    CHU Nantes, Service d hémato oncologie pédiatrique, Nantes, France
    Clin Cancer Res 17:31-8. 2011
    Germline hSNF5/INI1 mutations are responsible for hereditary cases of rhabdoid tumors (RT) that constitute the rhabdoid predisposition syndrome (RPS)...
  54. doi Aurora A is a repressed effector target of the chromatin remodeling protein INI1/hSNF5 required for rhabdoid tumor cell survival
    Seungjae Lee
    Department of Genetics, Albert Einstein College of Medicine, New York University, New York, NY, USA
    Cancer Res 71:3225-35. 2011
    Rhabdoid tumors (RT) are aggressive pediatric malignancies with poor prognosis. INI1/hSNF5 is a component of the chromatin remodeling SWI/SNF complex and a tumor suppressor deleted in RT...
  55. pmc Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma
    Cigall Kadoch
    Program in Cancer Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Cell 153:71-85. 2013
    ..protein competes for assembly with wild-type SS18, forming an altered complex lacking the tumor suppressor BAF47 (hSNF5). The altered complex binds the Sox2 locus and reverses polycomb-mediated repression, resulting in Sox2 activation...
  56. ncbi HIV integration. Ini1 for integration?
    M D Miller
    Infectious Disease Laboratory, Salk Institute, La Jolla, California 92037, USA
    Curr Biol 5:368-70. 1995
    The newly discovered Ini1 cellular protein binds HIV-1 integrase and is part of a protein complex thought to alter nucleosomal structure; such alterations may influence the selection of sites for HIV-1 DNA integration.
  57. pmc A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm
    C Muchardt
    UA1644 du CNRS, Departement des Biotechnologies, Institut Pasteur, Paris, France
    Nucleic Acids Res 23:1127-32. 1995
    ..describe the characterization of a cDNA encoding a human nuclear protein containing a large domain of homology with SNF5, another member of the yeast SNF/SWI complex...
  58. pmc Purification and biochemical heterogeneity of the mammalian SWI-SNF complex
    W Wang
    Howard Hughes Medical Institute, Department of Developmental Biology, Stanford University, CA 94305 5428, USA
    EMBO J 15:5370-82. 1996
    ..A group of BAF47-associated proteins were affinity purified with antibodies against INI1/BAF47 and were found to be identical to ..
  59. pmc Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region
    A Morozov
    Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, U821, Bronx, NY 10461, USA
    Proc Natl Acad Sci U S A 95:1120-5. 1998
    ..Ini1 has homology to yeast transcription factor SNF5 and is a component of the analogous mammalian SWI/SNF complex that can remodel chromatin...
  60. ncbi Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
    I Versteege
    Laboratoire de Pathologie Moléculaire des Cancers, Section de Recherche, Institut Curie, Paris, France
    Nature 394:203-6. 1998
    ..This region is found in the hSNF5/INI1 gene, which encodes a member of the chromatin-remodelling SWI/SNF multiprotein complexes...
  61. ncbi A C/EBP beta isoform recruits the SWI/SNF complex to activate myeloid genes
    E Kowenz-Leutz
    Max Delbruck Centrum fur Molekulare Medizin, Berlin, Federal Republic of Germany
    Mol Cell 4:735-43. 1999
    ..Interaction between C/EBP beta and SWI/SNF is essential for activating a subgroup of resident target genes in chromatin and may represent a major determinant of combinatorial gene regulation in eukaryotes...
  62. pmc Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene
    M D Taylor
    Arthur and Sonia Labatt Brain Tumor Research Centre, Division of Neurosurgery, Hospital for Sick Children, University of Toronto, Toronto, Canada
    Am J Hum Genet 66:1403-6. 2000
    ..Malignant rhabdoid tumors of the CNS and kidney show loss of heterozygosity at chromosome 22q11. The hSNF5 gene on chromosome 22q11 has recently been identified as a candidate tumor-suppressor gene in sporadic CNS and ..
  63. ncbi A novel nuclear receptor corepressor complex, N-CoR, contains components of the mammalian SWI/SNF complex and the corepressor KAP-1
    C Underhill
    Departments of Pharmacology and Toxicology, Oncology, and Biochemistry, Cancer Research Laboratories, London Regional Cancer Centre, The University of Western Ontario, London, Ontario, Canada
    J Biol Chem 275:40463-70. 2000
    ..novel components of the N-CoR-1 complex including the SWI/SNF-related proteins BRG1, BAF 170, BAF 155, BAF 47/INI1, and the corepressor KAP-1 that is involved in silencing heterochromatin...
  64. pmc Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes
    S Sif
    Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Genes Dev 15:603-18. 2001
    ..These unexpected functional characteristics indicate that these hSWI/SNF complexes play diverse regulatory roles...
  65. ncbi Cytoplasmic recruitment of INI1 and PML on incoming HIV preintegration complexes: interference with early steps of viral replication
    P Turelli
    Department of Genetics and Microbiology, University of Geneva, CH 1211 4, Geneva, Switzerland
    Mol Cell 7:1245-54. 2001
    ..retroviral preintegration complexes trigger the exportin-mediated cytoplasmic export of the SWI/SNF component INI1 and of the nuclear body constituent PML...
  66. ncbi The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity
    Daniel Y Wu
    Division of Medical Oncology, Department of Medicine, Veterans Administration Puget Sound Health Care System, Seattle Division, Seattle, Washington 98108, USA
    J Biol Chem 277:27706-15. 2002
    ..We found that hSNF5/INI1, a component of the hSWI/SNF chromatin remodeling complex, also binds to GADD34 and can coexist with GADD34 ..
  67. pmc Cell cycle arrest and repression of cyclin D1 transcription by INI1/hSNF5
    Zhi Kai Zhang
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Mol Cell Biol 22:5975-88. 2002
    INI1/hSNF5 is a component of the ATP-dependent chromatin remodeling hSWI/SNF complex and a tumor suppressor gene of aggressive pediatric atypical teratoid and malignant rhabdoid tumors (AT/RT)...
  68. ncbi A key role of the hSNF5/INI1 tumour suppressor in the control of the G1-S transition of the cell cycle
    Isabella Versteege
    INSERM U509, Laboratoire de Pathologie Moléculaire des Cancers, Institut Curie, 26 Rue d Ulm, 75248 Paris Cedex 05, France
    Oncogene 21:6403-12. 2002
    The hSNF5/INI1 gene encodes a member of the SWI/SNF chromatin remodelling complexes. It was recently identified as a tumour suppressor gene mutated in sporadic and hereditary Malignant Rhabdoid Tumours (MRT)...
  69. ncbi High frequency of alternative splicing of human genes participating in the HIV-1 life cycle: a model using TSG101, betaTrCP, PPIA, INI1, NAF1, and PML
    Manuel Favre
    Division of Infectious Diseases and Institute of Microbiology, University Hospital of Lausanne, Switzerland
    J Acquir Immune Defic Syndr 34:127-33. 2003
    ..repeats containing protein (betaTrCP), peptidyl-proly cis-trans isomerase, cyclophilin A (PPIA), integrase interactor 1 protein (INI1), Nef-associated factor 1 (NAF1), and promyelacytic leukemia (PML)-involved in the viral life ..
  70. ncbi Novel germ-line deletion of SNF5/INI1/SMARCB1 gene in neonate presenting with congenital malignant rhabdoid tumor of kidney and brain primitive neuroectodermal tumor
    Takeshi Kusafuka
    Department of Pediatric Surgery, Osaka University Graduate School of Medicine, Suita, Osaka, Japan
    Genes Chromosomes Cancer 40:133-9. 2004
    ..PCR band signals of each exon of the hSNF5/INI1 were weak or nearly undetectable in both MRTK and PNET, whereas those of the corresponding normal kidney were ..
  71. ncbi INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas
    Arie Perry
    Department of Pathology, Washington University School of Medicine, St Louis, MO 63001 1093, USA
    Mod Pathol 18:951-8. 2005
    ..tumors affect infants and young children, harbor chromosome 22q deletions, and inactivate the INI1/hSNF5/BAF47 tumor suppressor gene on 22q11.2...
  72. ncbi SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas
    Piergiorgio Modena
    Unit of Molecular Cytogenetics, Istituto Nazionale per lo Studio e la Cura dei Tumori, Milano, Italy
    Cancer Res 65:4012-9. 2005
    ..10q26 and 22q11 revealed that the 22q11 breakpoints were located in a 150-kb region containing the SMARCB1/INI1 gene, and that homozygous deletion of the gene was present in the tumor tissue...
  73. ncbi Loss of the hSNF5 gene concomitantly inactivates p21CIP/WAF1 and p16INK4a activity associated with replicative senescence in A204 rhabdoid tumor cells
    Jingjing Chai
    Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27599 7295, USA
    Cancer Res 65:10192-8. 2005
    b>hSNF5, the smallest member of the SWI/SNF chromatin remodeling complex, is lost in most malignant rhabdoid tumors (MRT)...
  74. pmc Requirement for SWI/SNF chromatin-remodeling complex in Tat-mediated activation of the HIV-1 promoter
    Céline Treand
    Institut Cochin, Département de Génétique et Développement, Paris, France
    EMBO J 25:1690-9. 2006
    ..These data show the requirement of Tat-mediated recruitment of SWI/SNF chromatin-remodeling complex to HIV-1 promoter in the activation of the LTR...
  75. ncbi The SWI/SNF chromatin-remodeling complex is a cofactor for Tat transactivation of the HIV promoter
    Tokameh Mahmoudi
    Gladstone Institute of Virology and Immunology, University of California, San Francisco, California 94158, USA
    J Biol Chem 281:19960-8. 2006
    ..This synergism depended on the acetyltransferase activity of p300 and on Tat Lys(50) and Lys(51). In conclusion, Tat-mediated activation of the HIV promoter requires the SWI/SNF complex in synergy with the coactivator p300...
  76. ncbi Inhibition of early steps of HIV-1 replication by SNF5/Ini1
    Marlène Maroun
    Institut Cochin, Département Maladies Infectieuses, F 75014 Paris, INSERM, U567, F 75014 Paris, France
    J Biol Chem 281:22736-43. 2006
    ..Viral integration involves the participation of several cellular proteins. SNF5/Ini1, a subunit of the SWI/SNF chromatin remodeling complex, was the first cofactor identified to interact with IN...
  77. pmc HIV-1 replication in cell lines harboring INI1/hSNF5 mutations
    Masha Sorin
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, NY, USA
    Retrovirology 3:56. 2006
    INI1/hSNF5 is a cellular protein that directly interacts with HIV-1 integrase (IN). It is specifically incorporated into HIV-1 virions. A dominant negative mutant derived from INI1 inhibits HIV-1 replication...
  78. ncbi Knock down of hSNF5/Ini1 causes cell cycle arrest and apoptosis in a p53-dependent manner
    Hiroyuki Kato
    Department of Virology III, National Institute of Infectious Diseases, Musashimurayama, Tokyo, Japan
    Biochem Biophys Res Commun 361:580-5. 2007
    b>hSNF5/Ini1 is a core component of the SWI/SNF complex and the gene is frequently mutated in aggressive pediatric rhabdoid tumors. Mechanisms of the malignant transformation, however, remain poorly understood...
  79. ncbi The requirement for SNF5/INI1 in adipocyte differentiation highlights new features of malignant rhabdoid tumors
    J Caramel
    Institut Curie, Research Section, Paris, France
    Oncogene 27:2035-44. 2008
    ..The highly undifferentiated phenotype of this tumor suggests that the loss-of-function of hSNF5/INI1 impairs specific differentiation programs of the MRT parental cell...
  80. ncbi Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas
    Roberta Sestini
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
    Hum Mutat 29:227-31. 2008
    ..The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis...
  81. doi Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
    K D Hadfield
    Academic Unit of Medical Genetics, University of Manchester and Regional Genetics Service, Manchester, UK
    J Med Genet 45:332-9. 2008
    ..A recent report identified bi-allelic mutations in the SMARCB1/INI1 gene in a single family with schwannomatosis...
  82. doi RhoA-dependent regulation of cell migration by the tumor suppressor hSNF5/INI1
    Julie Caramel
    Institut Curie and Institut National de la Santé et de la Recherche Medicale U830, Unité de Génétique et Biologie des Cancers, Paris, France
    Cancer Res 68:6154-61. 2008
    Malignant rhabdoid tumors (MRT) are extremely aggressive pediatric tumors caused by the inactivation of the hSNF5/INI1 tumor suppressor gene, which encodes a core member of the SWI/SNF chromatin remodeling complex...
  83. doi Rhabdoid tumour: a malignancy of early childhood with variable primary site, histology and clinical behaviour
    Xiangru Wu
    Department of Anatomical Pathology, Royal Children s Hospital, Flemington Road, Parkville, VIC 3052, Australia
    Pathology 40:664-70. 2008
    To correlate the immunostaining for INI1 protein and mutations in INI1 gene in possible rhabdoid tumours (RT) and atypical teratoid/rhabdoid tumours (AT/RT) seen at the Royal Children's Hospital in the last 10 years, and to study the ..
  84. doi Yeast two-hybrid detection of integrase-host factor interactions
    Jean Christophe Rain
    Hybrigenics S A, 3 5 Impasse Reille, Paris 75014, France
    Methods 47:291-7. 2009
    ..All tolled, our studies identified LEDGF/p75, Transportin-SR2 (TNPO3), von Hippel-Lindau binding protein 1 (VBP1), and sucrose non-fermenting 5 (SNF5) as cellular binding partners of HIV-1 integrase.
  85. doi The role of INI1/hSNF5 in gene regulation and cancer
    Angelina Stojanova
    Department of Medical Biophysics, University of Toronto, Toronto, ONM5G2M9, Canada
    Biochem Cell Biol 87:163-77. 2009
    ..In this review, we discuss a core subunit of the SWI/SNF ATP-dependent chromatin remodeling complex, known as INI1/hSNF5, in the context of transcriptional regulation and impact on cancer biology...
  86. doi Reduced expression of SMARCB1/INI1 protein in synovial sarcoma
    Kenichi Kohashi
    Department of Anatomic Pathology, Pathological Sciences, Graduate School of Medical Sciences, Kyushu University, Higashi ku, Fukuoka, Japan
    Mod Pathol 23:981-90. 2010
    ..all epithelioid sarcomas and half of epithelioid malignant peripheral nerve sheath tumors showed a loss of SMARCB1/INI1 protein expression in tumor cells and all of these tumors are also known to have rhabdoid cells...
  87. doi hSNF5 is required for human papillomavirus E2-driven transcriptional activation and DNA replication
    Seho Cha
    Department of Life Science, Dongguk University Seoul, Seoul, South Korea
    Intervirology 54:66-77. 2011
    ..To determine the participation of the SWI/SNF complex in the transcription and replication of human papillomavirus (HPV) E2 protein...
  88. doi Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas
    I Christiaans
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    J Med Genet 48:93-7. 2011
    ..However, involvement of this gene in the development of the meningiomas was not demonstrated...
  89. doi Prognostic determinants in epithelioid sarcoma
    Patrizia Gasparini
    Unit of Molecular Cytogenetics, Fondazione IRCCS Istituto Nazionale Tumori, Milano, Italy
    Eur J Cancer 47:287-95. 2011
    ....
  90. doi Loss of SMARCB1/INI1 expression in poorly differentiated chordomas
    Bret C Mobley
    Department of Pathology, Stanford University School of Medicine, Palo Alto, CA 94305, USA
    Acta Neuropathol 120:745-53. 2010
    ..We noted the absence of SMARCB1/INI1 expression by immunohistochemistry in an index case of poorly differentiated chordoma of the sacrum, leading us to ..
  91. pmc Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors
    Katherine W Eaton
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Pediatr Blood Cancer 56:7-15. 2011
    Germline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis...
  92. pmc A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers
    Ryan S Lee
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA, USA
    J Clin Invest 122:2983-8. 2012
    ..Our results demonstrate that high mutation rates are dispensable for the genesis of cancers driven by mutation of a chromatin remodeling complex. Consequently, cancer can be a remarkably genetically simple disease...
  93. doi SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis
    Theo J M Hulsebos
    Department of Genome Analysis, Academic Medical Center Department of Pathology, VU University Medical Center, Amsterdam Department of Pathology, Nijmegen Center for Molecular Life Sciences NCMLS, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands Institute for Human Genetics, University Hospital Muenster, Muenster Institute for Neuropathology, Evangelisches Krankenhaus, Bielefeld, Germany
    Am J Surg Pathol 38:421-5. 2014
    ..To our knowledge, this is the first reported case of leiomyoma associated with a germline SMARCB1 mutation. As such, it widens the spectrum of benign tumors associated with a germline SMARCB1 mutation. ..
  94. ncbi Loss of the INI1 tumor suppressor does not impair the expression of multiple BRG1-dependent genes or the assembly of SWI/SNF enzymes
    Diem N Doan
    Department of Cell Biology, University of Massachusetts Medical School, Worcester, MA 01655, USA
    Oncogene 23:3462-73. 2004
    The INI1/hSNF5 tumor suppressor is an integral component of mammalian SWI/SNF chromatin remodeling enzymes that contain SNF2 family ATPases BRM (Brahma) or BRG1 (Brahma Related Gene 1) and that contribute to the regulation of many genes...
  95. doi Infrequent SMARCB1/INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor
    Kenichi Kohashi
    Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
    Hum Pathol 40:349-55. 2009
    Loss of SMARCB1/INI1 protein expression is considered useful for confirming a histologic diagnosis of malignant rhabdoid tumor...
  96. doi SMARCB1 mutations are not a common cause of multiple meningiomas
    K D Hadfield
    Department of Genetic Medicine, Manchester Academic Health Sciences Centre MAHSC, St Mary s Hospital, University of Manchester, Manchester M13 9WL, UK
    J Med Genet 47:567-8. 2010
    ..Recently, Bacci et al reported a germline SMARCB1 mutation associated with familial schwannomatosis and multiple meningiomas. They concluded that SMARCB1 mutations can predispose to multiple meningiomas...
  97. doi A unique pattern of INI1 immunohistochemistry distinguishes synovial sarcoma from its histologic mimics
    Michael A Arnold
    Department of Pathology, Nationwide Children s Hospital, Columbus, OH 43205, USA
    Hum Pathol 44:881-7. 2013
    The absence of INI1 (SMARCB1, hSNF5, BAF47) immunohistochemical reactivity is a central feature of malignant rhabdoid tumor, renal medullary carcinoma, and epithelioid sarcoma...
  98. ncbi c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function
    S W Cheng
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Nat Genet 22:102-5. 1999
    ..SWI2/SNF2 is an ATPase whose homologues, BRG1 and hBRM, mediate cell-cycle arrest; the SNF5 homologue, INI1/hSNF5, appears to be a tumour suppressor...
  99. ncbi Inactivation of the SNF5 transcription factor gene abolishes the lethal phenotype induced by the expression of HIV-1 integrase in yeast
    V Parissi
    CNRS UMR 5097 IFR 66 Pathologies Infectieuses, Université Victor Segalen Bordeaux 2 146 rue Leo Saignat, 33076, Bordeaux, France
    Gene 247:129-36. 2000
    ..Curr. Genet. 29, 503-510). Here, we describe the effect of the inactivation of the gene encoding for SNF5, a yeast transcription factor homologous to Ini1, on the lethality induced by the expression of HIV-1 IN in yeast...
  100. pmc Regulating SWI/SNF subunit levels via protein-protein interactions and proteasomal degradation: BAF155 and BAF170 limit expression of BAF57
    Jianguang Chen
    Chromatin and Gene Expression Section, Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA
    Mol Cell Biol 25:9016-27. 2005
    ..The expression levels of the core SWI/SNF subunits, including BRG1/Brm, BAF155, BAF170, BAF60, hSNF/Ini1, and BAF57, are stoichiometric, with few to no unbound molecules in the cell...

Research Grants60

  1. Role of hsnf5/BAF47 Loss in Human Cancer Development
    Bernard E Weissman; Fiscal Year: 2012
    ..Mutations in the INI1/SNF5/BAF47 gene, a component of the SWI/SNF chromatin remodeling complex, occur in virtually all malignant rhabdoid tumors (..
  2. GENETICS OF PEDIATRIC RHABDOID TUMORS
    Jaclyn A Biegel; Fiscal Year: 2012
    ..atypical teratoid/rhabdoid tumor;AT/RT), kidney and soft tissues are associated with alterations of the INI1/hSNF5 tumor suppressor gene in chromosome 22q11.2...
  3. Analysis of the Novel Tumor Suppressor Gene SNF5/INI1
    Charles Roberts; Fiscal Year: 2006
    ..The vast majority of MRTs have sustained bi-allelic inactivating mutations of the hSNF5/INI1 gene, suggesting that SNF5 may act as a tumor suppressor...
  4. MICHELLE SANG HSIANG; Fiscal Year: 2016
    ..Malaria Control Program, I propose the following specific aims: 1) Compare pooled PCR to rapid diagnostic test (RDT) for improved detection of secondary malaria infections, 2) Identify epidemiological factors associated with the ..
  5. Epigenetic and clinical impact of SMARCB1 loss in cancer
    Elizabeth J Perlman; Fiscal Year: 2013
    The SMARCB1 (hSNF5/INI-1) gene encodes the INI-1 protein, a component of the SWI/SNF chromatin remodeling complex...
  6. 2012 Neurofibromatosis (NF) Conference
    Brigitte Widemann; Fiscal Year: 2012
    ..Understanding of Schwannomatosis is progressing since a candidate gene INI1 was identified. This disorder may also be linked to NF2 and other genes...
  7. Paul Yager; Fiscal Year: 2015
    ..and abroad. Many tests for influenza diagnosis and strain identification have been developed, but all tests in an RDT format have unacceptably low sensitivity;in 2009 the Centers for Disease Control issued a recommendation to ..
  8. The Swi/Snf tumor suppressor in stem cell self-renewal and pluripotency
    BORIS G WILSON; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Inactivating mutations in the SNF5 gene result in aggressive cancers in children and a familial cancer predisposition syndrome...
  9. Gerald R Crabtree; Fiscal Year: 2016
    ..studies indicate that the identified subunits: BAF250a, Brg (BAF190), BAF155, BAF60b, BAF53a, and BAF47 (hSNF5) are dedicated to these complexes and not found as individual proteins or as parts of other complexes...
  10. Protein-Protein Interactions of HIV-1 Integrase
    Ganjam V Kalpana; Fiscal Year: 2010
    ..Several host factors, including INI1/hSNF5, directly bind to HIV-1 IN. INI1/hSNF5 plays multiple roles during HIV-1 replication...
  11. Dynamics of Host-Virus Interactions During HIV-1 Replication
    Ganjam V Kalpana; Fiscal Year: 2011
    ..INI1/hSNF5 is a component of the chromatin remodeling SWI/SNF complex that directly and selectively binds to HIV-1 integrase (..
  12. DAVID J WYLER; Fiscal Year: 2014
    ..Specifically, a rapid diagnostic test (RDT) for fibrosin could identify those individuals at risk of hepatic fibrosis and prioritize them from more frequent ..
  13. Hox gene regulation by the Snf5 tumor suppressor
    EVA LORENA MORA BLANCO; Fiscal Year: 2010
    ..Recently, we have found Snf5, another core component of the Swi/Snf complex, is specifically required for Hox gene expression in murine ..
  14. Exploiting mouse models of pediatric cancers and epigenetics for therapy
    Stuart H Orkin; Fiscal Year: 2013
    ..3, "Epigenetics in cancer initiation and progression: from mechanism to therapy", focuses on malignancies due to SNF5 inactivation, as these appear to be "epigenetically driven" and without evident somatic mutations...
  15. Impact of BRG1 Loss in Lung Cancer Development
    David N Reisman; Fiscal Year: 2012
    ..Indeed, the SWI/SNF subunit BAF47 is known to be a bona fide tumor suppressor involved in the genesis of certain sarcomas, and when inactivated in ..
  16. Charles Roberts; Fiscal Year: 2016
    ..SNF5 (INI1/SMARCB1/BAF47) is specifically mutated in aggressive human cancers and in a familial cancer predisposition syndrome...
  17. Exploring the Relationship Between Work Environment and Quality of Care
    MARIA ELENA TORRES; Fiscal Year: 2012
    ..Norm of Reciprocity which predict the behavior of individuals within organizations;(2) Resource Dependence Theory (RDT) which predicts the behavior of an organization, in this case the outpatient treatment facility, in regards to its ..
  18. Coordination of Respiration with Deglutition & Phonation in Ataxia-Telangiectasia
    Maureen Lefton Greif; Fiscal Year: 2007
    ..We will use Respirodeglutometric (RDT) instrumentation to characterize the respiration during deglutition in patients with A-T...
  19. COORDINATION OF RESPIRATION AND DEGLUTITION
    ADRIENNE PERLMAN; Fiscal Year: 2003
    ..Respirodeglutometric (RDT) output will be digitized at 1000 samples/sec/channel while subjects swallow pre-measured 5, 10, and 15 ml volumes ..
  20. The role of Inil in chromatin development and cancer
    Stephen Jones; Fiscal Year: 2006
    ..The recent identification of Ini1 mutations in familial malignant rhabdoid tumors has further heightened interest in the link between SWI/SNF ..
  21. HETEROCHROMATIN REGULATION BY IMITATION SWITCH COMPLEXES
    Ramin Shiekhattar; Fiscal Year: 2005
    ..g. ATRx, MeCP2) and cancer development (e.g. SNF5, CBP)...
  22. Protein-Protein Interactions of HIV-1 Integrase
    Ganjam Kalpana; Fiscal Year: 2006
    ..is aimed at elucidating the dynamic host-virus interactions, specifically focusing on integrase (IN) and INI1/hSNF5, and to utilize this knowledge for the design of drugs for anti-AIDS therapy...
  23. The p270 SWI/SNF subunit as a potential Wilms' tumor susceptibility gene
    Elizabeth Moran; Fiscal Year: 2009
    ..subunits can also be essential for the anti-proliferative role of the complex, and the noncatalytic subunit INI1/ hSNF5 is already recognized as a human tumor susceptibility gene...
  24. Protein-Protein Interactions of HIV-1 Integrase
    Ganjam Kalpana; Fiscal Year: 2003
    ..is aimed at elucidating the dynamic host-virus interactions that specifically focus on integrase (IN) and INI1/hSNF5, and to utilize this knowledge for the design of drugs for anti- AIDS therapy...
  25. Cellular Consequences of Snf5 Tumor Suppressor Loss
    COURTNEY SANSAM; Fiscal Year: 2009
    ..Biallelic inactivation of SNF5, a core component of the SWI/SNF chromatin remodeling complex, is an extremely potent, cancer-promoting event that ..
  26. Functional Analysis of SWI/SNF chromatin remodelers
    Hua ying Fan; Fiscal Year: 2007
    ..BRG1 and INI1/hSNF5, two conserved subunits of SWI/SNF, appear to behave as classical tumor suppressors...
  27. INIL AND EBV MEDIATED LYMPHOMAGENESIS
    Daniel Wu; Fiscal Year: 2000
    ..This proposed work aims to define the function of the EBNA2-Ini1 interaction by establishing reversible and conditional repression of the Ini1 gene with targeted ribozyme. Dr...
  28. ROLE OF P270 IN DIFFERENTIATION AND TUMORIGENESIS
    George Beck; Fiscal Year: 2006
    ..Biallelic alterations of the hSNF5/INI1 gene were discovered in malignant rhabdoid tumors...
  29. CHROMATIN REMODELING IN VIRAL TRANSFORMATION
    William Schubach; Fiscal Year: 2002
    ..A fraction of phosphorylated EBNA2 is associated with hSNF5/Ini1 in EBV infected B cells. hSNF5 is a component of the human SWI/SNF chromatin remodeling complex...
  30. Regulation of Interferon Signaling by INI1/hSNF5 During HIV-1 Replication
    Ganjam Kalpana; Fiscal Year: 2008
    ..INI1/hSNF5, is a HIV-1 integrase (IN) binding host factor, is a component of the mammalian chromatin-remodeling SWI/SNF ..
  31. SWI/SNF complex loss facilitates gene silencing during NSCLC development
    Bernard E Weissman; Fiscal Year: 2010
    ..abstract_text> ..
  32. MOLECULAR REGULATION OF FXR ACTIVITY
    Jongsook Kim Kemper; Fiscal Year: 2010
    ..The studies may also facilitate the design of therapeutic agents for treating these metabolic disorders. ..
  33. Pathways of Therapy-induced Senescence in Cancer
    Daniel Y Wu; Fiscal Year: 2010
    ..These studies should yield the clinical relevance, novel markers and new mechanistic insights of accelerated cellular senescence in human cancers. ..
  34. ISOLATION OF A SECOND WILMS TUMOR SUPPRESSOR GENE
    Bernard Weissman; Fiscal Year: 2001
    ....
  35. Regulation of cholesterol catabolism by bile acids
    JONGSOOK KEMPER; Fiscal Year: 2008
    ..abstract_text> ..
  36. Do Physicians Understand Uncertain Variants and Other Genetic Test Results?
    Sharon Plon; Fiscal Year: 2009
    ..With the increasing availability of complex testing modalities, e.g. DNA and RNA gene chips, for a variety of both rare and common diseases, appropriate reporting and physician education must accompany the development of these tests. ..
  37. Viral Detection Using Fluorescent Nanocrystals
    David Wright; Fiscal Year: 2008
    ..In addition to clinical applications, it is expected that these probes will ultimately allow researchers to investigate fundamental questions in viral trafficking. [unreadable] [unreadable] [unreadable]..
  38. ALTERNATIVE DNA DAMAGE CHECKPOINT PATHWAYS IN EUKARYOTES
    Sharon Plon; Fiscal Year: 2002
    ..These latter results will demonstrate whether activation of an alternative checkpoint pathway might be used therapeutically for patients with AT or to alter the resistance of tumors to radiation and other DNA-damaging agents. ..
  39. NEUREGULINS AND THE PATHOLOGY OF NERVE INJURY
    Steven Carroll; Fiscal Year: 2002
    ....
  40. NUCLEAR TRANSLOCATION OF HIV 1 GENOME AS A DRUG TARGET
    Michael Bukrinsky; Fiscal Year: 2004
    ..Upon completion, these studies are expected to define potent anti-HIV compounds working through a novel mechanism different from that of any other currently used drug. ..
  41. Leukocyte recruitment by cyclophilinc-CD147 interaction
    Michael Bukrinsky; Fiscal Year: 2005
    ..This exploratory proposal is fully consistent with the goals of this PA as it extends our previous discovery toward new directions related to regulation of inflammatory responses. ..
  42. Translation Research in Plasmodium vivax
    Socrates Herrera; Fiscal Year: 2005
    ..abstract_text> ..
  43. The Role of Vpr in HIV-1 Nuclear Translocation
    Michael Bukrinsky; Fiscal Year: 2006
    ..These results will be significant, because they are expected to facilitate discovery of agents that would inhibit Vpr activity and thus attenuate HIV replication. ..
  44. Gene Transfer to Facilitate Dose-Intensification in the Treatment of Pediatric B*
    Lars Wagner; Fiscal Year: 2007
    ..We hypothesize this strategy will be well tolerated and allow for meaningful dose escalation through chemoprotection afforded by gene transfer into hematopoietic stem cells. [unreadable] [unreadable] [unreadable]..
  45. Burden of Malaria in Pregnancy in India
    Davidson Hamer; Fiscal Year: 2007
    ..The information generated by the study will also be instrumental in the development of new programs for preventing and mitigating the impact of MIP in India. [unreadable] [unreadable] [unreadable]..
  46. Role of Neuregulin-1 in Schwann Cell Neoplasia
    Steven Carroll; Fiscal Year: 2008
    ..These studies will provide important insights into the mechanisms promoting MPNST formation and establish the NRG-1/erbB signaling pathway as a novel therapeutic target in MPNSTs. [unreadable] [unreadable]..
  47. Oxadaizols: Rationally designed compounds targeting HIV nuclear importation
    Michael Bukrinsky; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  48. Effects of human SWI/SNF-associated PRMT5 on lymphomagenesis
    SAID SIF; Fiscal Year: 2011
    ..abstract_text> ..
  49. Utility of rapid diagnostic tests for malaria
    Heidi Hopkins; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  50. HIV Impairs Reverse Cholesterol Transport
    Michael Bukrinsky; Fiscal Year: 2006
    ..These studies are expected to yield sufficient information upon which to base a well-planned and rigorous series of further investigations. [unreadable] [unreadable]..
  51. SWI/SNF Chromatin Remodeling Loss and Human Cancer
    Bernard Weissman; Fiscal Year: 2007
    ..Mutations in the INI1/SNF5 gene, a component of the SWI/SNF chromatin remodeling complex, occur in the majority of malignant rhabdoid tumors...
  52. CD4+ memory T cell recruitment by cyclophilin
    Michael Bukrinsky; Fiscal Year: 2004
    ..Therefore, the R03 mechanism appears highly appropriate. If proven, this hypothesis will serve as a foundation for a new research program, which might suggest novel approaches to treatment of HIV-1 infection. ..
  53. Hemozoin Mediated Inactivation of Protein Kinase C
    David Wright; Fiscal Year: 2005
    ..The successful completion of this grant will establish the molecular basis of hemozoin mediated inactivation of Protein Kinase C and pave the way for more detailed proteomic analysis of HNE adducts within macrophages. ..
  54. Pirfenidone in Children with PNs in NF1
    Roger Packer; Fiscal Year: 2006
    ..Abstract Not Provided ..
  55. Serum Markers of Angiogenesis in von Hippel-Lindau Dise*
    Gail Tomlinson; Fiscal Year: 2005
    ..The establishment of a VHL registry in North Texas will also place us in an excellent position to develop clinical protocols aimed towards early detection of lesions in VHL patients. ..
  56. NITROXIDERGIC CEREBROVASCULAR TONE DURING ANESTHESIA
    Shailendra Joshi; Fiscal Year: 2005
    ..abstract_text> ..
  57. ROLE OF CHROMATIN REMODELERS IN B AND T CELL DEVELOPMENT
    SAID SIF; Fiscal Year: 2004
    ..abstract_text> ..
  58. Imaging Technology for HIV Nuclear Import Inhibitors
    Michael Bukrinsky; Fiscal Year: 2003
    ..The imaging technology will greatly augment the value of the project by adding a superior method for analyzing the activity of the drugs. ..
  59. MOLECULAR ANALYSIS OF FANCONI'S ANEMIA C PROTEIN
    Sharon Plon; Fiscal Year: 2003
    ....
  60. CHILDRENS NATIONAL MEDICAL CENTER
    Roger Packer; Fiscal Year: 2003
    ....