KCNQ1OT1

Summary

Gene Symbol: KCNQ1OT1
Description: KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
Alias: KCNQ1-AS2, KCNQ10T1, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012
Species: human

Top Publications

  1. pmc In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene
    Christine Gicquel
    Am J Hum Genet 72:1338-41. 2003
  2. pmc Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar region
    Faizaan Mohammad
    Uppsala University, Department of Genetics and Pathology, Rudbeck Laboratory, Dag Hammarskölds Väg 20, 75185 Uppsala, Sweden
    Mol Cell Biol 28:3713-28. 2008
  3. pmc Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, USA
    Am J Hum Genet 72:156-60. 2003
  4. ncbi LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
    K Mitsuya
    Department of Molecular and Cell Genetics, School of Life Sciences, Faculty of Medicine, Tottori University, Nishimachi, Yonago, Japan
    Hum Mol Genet 8:1209-17. 1999
  5. pmc A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
    N J Smilinich
    Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
    Proc Natl Acad Sci U S A 96:8064-9. 1999
  6. pmc Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
    M P Lee
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 96:5203-8. 1999
  7. pmc ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome
    Takahiro Arima
    Department of Reproductive Physiology and Endocrinology, Medical Institute of Bioregulation, Kyusyu University 4546, Tsurumihara, Beppu, Oita 874 0838, Japan
    Nucleic Acids Res 33:2650-60. 2005
  8. pmc Two distinct mechanisms of silencing by the KvDMR1 imprinting control region
    Jong Yeon Shin
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    EMBO J 27:168-78. 2008
  9. pmc Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome
    N Diaz-Meyer
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    J Med Genet 40:797-801. 2003
  10. pmc Mechanisms of long range silencing by imprinted macro non-coding RNAs
    Florian M Pauler
    CeMM Research Center for Molecular Medicine of the Austrian Academy of Science, Lazarettgasse 14, AKH BT 25 3, 1090 Vienna, Austria
    Curr Opin Genet Dev 22:283-9. 2012

Scientific Experts

  • Chandrasekhar Kanduri
  • H Soejima
  • Sascha Tierling
  • M V M Gomes
  • Faizaan Mohammad
  • Tanmoy Mondal
  • Radha Raman Pandey
  • Michael R Debaun
  • Emily L Niemitz
  • Christine Gicquel
  • Flavia Cerrato
  • Mitsuo Oshimura
  • Mark Wijnen
  • Katherine Marie Robbins
  • Natalia Guseva
  • Nicoletta Chiesa
  • Florian M Pauler
  • Hsiu Huei Peng
  • Mohamed Al-Khtib
  • Julie Demars
  • Alka Saxena
  • Shuenn Dyh Chang
  • Andrew P Feinberg
  • Marjorie Pick
  • Jong Yeon Shin
  • Gwo Chin Ma
  • Takashi Nagano
  • R Khoueiry
  • Andrea Riccio
  • Yves Le Bouc
  • Elke Geuns
  • Seiji Nakano
  • K Higashimoto
  • Takahiro Arima
  • Hiroyuki Kugoh
  • Kazuhiro Murakami
  • Wen jie Shen
  • Minjie Du
  • Noopur Thakur
  • Anant Khositseth
  • M P Lee
  • K Mitsuya
  • N Diaz-Meyer
  • C D Day
  • An Shine Chao
  • Angela Sparago
  • Lucia Perone
  • Silvia Russo
  • Denise P Barlow
  • Agostina De Crescenzo
  • Rocío Melissa Rivera
  • Alessandro Mussa
  • Elisabetta Lapi
  • Po Jen Cheng
  • Tzu Hao Wang
  • Orazio Palumbo
  • Marry M van den Heuvel-Eibrink
  • Margherita Cirillo Silengo
  • KEVIN DALE WELLS
  • Anja Wagner
  • Chao Nin Wang
  • Maria Vittoria Cubellis
  • Christian M Zwaan
  • Giovanni Battista Ferrero
  • E R Maher
  • Massimo Carella
  • Marielle Alders
  • Quanah J Hudson
  • Shiaw Min Hwang
  • W Reik
  • Kankadeb Mishra
  • Zhiyuan Chen
  • M J Higgins
  • Annick Lefevre
  • Sylvie Odent
  • Samira Ibala-Romdhane
  • Jacqueline Lornage
  • Jacques Weill
  • Cécile Greze
  • Josette Lucas
  • Kai Syin Lee
  • Laurence Faivre
  • Thierry Blachère
  • Joris Andrieux
  • Astrid Perret
  • Christele Dubourg
  • Patrick Callier
  • Salah Azzi
  • Irene Netchine
  • Mansur Shmela

Detail Information

Publications39

  1. pmc In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene
    Christine Gicquel
    Am J Hum Genet 72:1338-41. 2003
  2. pmc Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar region
    Faizaan Mohammad
    Uppsala University, Department of Genetics and Pathology, Rudbeck Laboratory, Dag Hammarskölds Väg 20, 75185 Uppsala, Sweden
    Mol Cell Biol 28:3713-28. 2008
    The Kcnq1ot1 antisense noncoding RNA has been implicated in long-range bidirectional silencing, but the underlying mechanisms remain enigmatic...
  3. pmc Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, St Louis, USA
    Am J Hum Genet 72:156-60. 2003
    ..six of the children indicate that five of the six have specific epigenetic alterations associated with BWS-four at LIT1 and one at both LIT1 and H19...
  4. ncbi LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
    K Mitsuya
    Department of Molecular and Cell Genetics, School of Life Sciences, Faculty of Medicine, Tottori University, Nishimachi, Yonago, Japan
    Hum Mol Genet 8:1209-17. 1999
    ..The transcript, called LIT1 (long QT intronic transcript 1), was expressed preferentially from the paternal allele and produced in most human ..
  5. pmc A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
    N J Smilinich
    Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
    Proc Natl Acad Sci U S A 96:8064-9. 1999
    ..We have identified an evolutionarily conserved, maternally methylated CpG island (KvDMR1) in an intron of the KvLQT1 gene...
  6. pmc Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
    M P Lee
    Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 96:5203-8. 1999
    ..We now show that an antisense orientation transcript within KVLQT1, termed LIT1 (long QT intronic transcript 1) is expressed normally from the paternal allele, from which KVLQT1 transcription is ..
  7. pmc ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome
    Takahiro Arima
    Department of Reproductive Physiology and Endocrinology, Medical Institute of Bioregulation, Kyusyu University 4546, Tsurumihara, Beppu, Oita 874 0838, Japan
    Nucleic Acids Res 33:2650-60. 2005
    ..ZAC, a sequence-specific DNA-binding protein, binds within the CpG island of LIT1 (KCNQ1OT1), a paternally expressed, anti-sense RNA thought to negatively regulate p57(KIP2) in cis...
  8. pmc Two distinct mechanisms of silencing by the KvDMR1 imprinting control region
    Jong Yeon Shin
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    EMBO J 27:168-78. 2008
    ..The KvDMR1 ICR contains both the promoter for the Kcnq1ot1 ncRNA and two CTCF-binding sites located within sequences exhibiting repressive activity in enhancer-blocking ..
  9. pmc Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome
    N Diaz-Meyer
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    J Med Genet 40:797-801. 2003
    ..5. The most frequent alteration associated with BWS is the absence of methylation at the maternal allele of KvDMR1, an intronic CpG island within the KCNQ1 gene...
  10. pmc Mechanisms of long range silencing by imprinted macro non-coding RNAs
    Florian M Pauler
    CeMM Research Center for Molecular Medicine of the Austrian Academy of Science, Lazarettgasse 14, AKH BT 25 3, 1090 Vienna, Austria
    Curr Opin Genet Dev 22:283-9. 2012
    ..It is timely, however, to consider alternative explanations consistent with the published data, whereby transcription alone could cause gene silencing at a distance...
  11. pmc Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine
    Katherine Marie Robbins
    Division of Animal Sciences, University of Missouri, Columbia, MO, USA
    J Biomed Sci 19:95. 2012
    ..5, namely the KvDMR1 and H19/IGF2. A similar overgrowth phenotype is observed in bovine and ovine as a result of embryo culture...
  12. doi DNA methylation patterns of imprinting centers for H19, SNRPN, and KCNQ1OT1 in single-cell clones of human amniotic fluid mesenchymal stem cell
    Hsiu Huei Peng
    Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University, Tao Yuan, Taiwan
    Taiwan J Obstet Gynecol 51:342-9. 2012
    To test the hypothesis that human amniotic fluid mesenchymal stem cells contain a unique epigenetic signature in imprinting centers of H19, SNRPN, and KCNQ1OT1 during in vitro cell culture.
  13. doi Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation
    Radha Raman Pandey
    Department of Genetics and Pathology, Dag Hammarskjölds väg 20, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden
    Mol Cell 32:232-46. 2008
    ..Here we show that Kcnq1ot1 is an RNA polymerase II-encoded, 91 kb-long, moderately stable nuclear transcript and that its stability is ..
  14. doi Kcnq1ot1: a chromatin regulatory RNA
    Chandrasekhar Kanduri
    Department of Immunology, Genetics and Pathology, Dag Hammarskjölds väg 20, 75185 Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    Semin Cell Dev Biol 22:343-50. 2011
    ..b>Kcnq1ot1 is one such long chromatin-interacting ncRNA that silences multiple genes in the Kcnq1 domain by establishing a ..
  15. doi KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
    Mark Wijnen
    Department of Pediatric Oncology Hematology, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
    Pediatr Blood Cancer 59:565-6. 2012
    ..In both patients genetic screening revealed hypomethylation of the KCNQ1OT1 gene, well-known for its association with the Beckwith-Wiedemann syndrome...
  16. doi New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects
    Julie Demars
    Epigenetics in Human Health and Disease, Baker IDI Heart and Diabetes Institute, Melbourne, Victoria, Australia
    Hum Mutat 32:1171-82. 2011
    ..of them under the control of its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the KCNQ1OT1/CDKN1C domain)...
  17. pmc Long non-coding RNA modifies chromatin: epigenetic silencing by long non-coding RNAs
    Alka Saxena
    Omics Science Center, RIKEN Yokohama Institute, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    Bioessays 33:830-9. 2011
    ..Finally, we point to future areas of research and put forward our recommendations for improvements in resources and applications of existing technologies towards targeted outcomes in this active area of research...
  18. pmc The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
    Nicoletta Chiesa
    Dipartimento di Scienze Pediatriche e dell Adolescenza, Universita di Torino, Torino, Italy
    Hum Mol Genet 21:10-25. 2012
    ..It includes the centromeric ICR (ICR2) and the most 5' 20 kb of the non-coding KCNQ1OT1 gene. Its maternal transmission is associated with ICR2 hypomethylation and the BWS phenotype...
  19. doi Antisense noncoding RNA promoter regulates the timing of de novo methylation of an imprinting control region
    Natalia Guseva
    Uppsala SciLife Laboratory, Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Dag Hammarskjöldsväg 20, S75185, Uppsala University, Uppsala, Sweden
    Dev Biol 361:403-11. 2012
    ..Here, we show that a paternal allele of Kcnq1 ICR lacking the Kcnq1ot1 promoter remains unmethylated during spermatogenesis; however, it becomes methylated specifically during pre-..
  20. pmc Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome
    Emily L Niemitz
    Predoctoral Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Am J Hum Genet 75:844-9. 2004
    ..including infrequent mutation of p57(KIP2) or loss of imprinting of either of two imprinted gene domains on 11p15: LIT1, which is near p57(KIP2), or H19/IGF2...
  21. ncbi Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancers
    Seiji Nakano
    Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University, 86 Nishimachi, Yonago, Tottori 683 8503, Japan
    Cancer Sci 97:1147-54. 2006
    The human chromosome region 11p15.5 contains a number of maternally and paternally imprinted genes, and the LIT1/KCNQ1OT1 locus acts as an imprinting center in the proximal domain of 11p15.5...
  22. doi Vitrification at the germinal vesicle stage does not affect the methylation profile of H19 and KCNQ1OT1 imprinting centers in human oocytes subsequently matured in vitro
    Mohamed Al-Khtib
    INSERM, Institut Cellule Souche et Cerveau, Bron, France
    Fertil Steril 95:1955-60. 2011
    ..To evaluate the integrity of genomic imprinting in oocytes vitrified at the germinal vesicle (GV) stage and in vitro matured (IVM) after thawing...
  23. ncbi Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome
    Anant Khositseth
    Department of Pediatric and Adolescent Medicine Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 1:60-4. 2004
    ..The aim of this study was to elucidate the genetic basis for long QT syndrome (LQTS) in patients with a personal or family history of postpartum cardiac events...
  24. pmc An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region
    Noopur Thakur
    Department of Development and Genetics, Evolution Biology Centre, Uppsala University, Norbyvagen 18A, S 752 36 Uppsala, Sweden
    Mol Cell Biol 24:7855-62. 2004
    ..The unmethylated Kcnq1 ICR harbors bidirectional silencer activity and drives expression of an antisense RNA, Kcnq1ot1, which overlaps the Kcnq1 coding region...
  25. ncbi The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5
    Minjie Du
    Department of Molecular and Medical Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada
    Genomics 84:288-300. 2004
    ..A differentially methylated region in ICR2 regulates the expression of a long transcript called KCNQ1OT1. This paternally expressed transcript negatively regulates several paternally imprinted genes around ICR2...
  26. ncbi Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer
    Hidenobu Soejima
    Department of Biomolecular Sciences, Division of Molecular Biology and Genetics, Saga Medical School, 5 1 1 Nabeshima, Saga 849 8501 Japan
    Oncogene 23:4380-8. 2004
    ..It has been, however, controversial whether the diminution is caused by imprinting disruption of the CDKN1C/LIT1 domain or by promoter hypermethylation of CDKN1C itself...
  27. ncbi The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome
    Flavia Cerrato
    Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Hum Genet 111:105-7. 2002
  28. pmc Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
    Michael R Debaun
    Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, Saint Louis, USA
    Am J Hum Genet 70:604-11. 2002
    ..The most common constitutional abnormalities in BWS are epigenetic, involving abnormal methylation of either H19 or LIT1, which encode untranslated RNAs on 11p15...
  29. ncbi Expression of imprinted genes related to Beckwith-Wiedemann syndrome in human oocytes and preimplantation embryos
    Wen jie Shen
    Reproductive Medical Center, Nanfang Hospital, Guangzhou, Guangdong, 510515, PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:265-7. 2005
    ..To investigate the expression of imprinted genes related to Beckwith-Wiedemann syndrome (BWS) in human oocytes and preimplantation embryos for understanding the relationship between assisted reproductive technology (ART) and BWS...
  30. doi DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome
    S Tierling
    Universitat des Saarlandes, FR8 3 Biowissenschaften, Genetik Epigenetik, Saarbrucken, Germany
    Clin Genet 79:546-53. 2011
    ..like a protruding tongue, indented ears and transient neonatal hypoglycaemia, to an abnormal methylation at the KvDMR1. DNAs extracted from peripheral blood, skin fibroblasts, saliva and buccal swab of both twins, their sister and ..
  31. pmc Methylation analysis of KvDMR1 in human oocytes
    Elke Geuns
    Research Centre Reproduction and Genetics, Academisch Ziekenhuis Vrije Universiteit Brussel, Laarbeeklaan, Brussels, Belgium
    J Med Genet 44:144-7. 2007
    ..syndrome compared with the general population, and in most of these patients, aberrant methylation imprints of KvDMR1 have been found...
  32. doi Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytes
    R Khoueiry
    Inserm U846, Laboratoire de Biologie de la Reproduction, Faculte de Medecine, Lyon, France
    J Med Genet 45:583-8. 2008
    ..Maternal imprint is apposed on oocyte during growth and maturation. Factors interfering with normal oocyte differentiation such as gonadotrophin stimulation and in vitro maturation (IVM) may possibly alter imprint resetting...
  33. ncbi Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer
    K Higashimoto
    Division of Molecular Biology and Genetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan
    Cytogenet Genome Res 113:306-12. 2006
    ..5, which is homologous to mouse chromosome region 7F5, is a well-known imprinted region. The CDKN1C/KCNQ1OT1 imprinted domain, which is one of two imprinted domains at 11p15...
  34. doi Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies
    M V Gomes
    Department of Genetics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Avenida Bandeirantes, 3900, Monte Alegre, Ribeirão Preto 14049 900, Sao Paulo, Brazil
    Mol Hum Reprod 15:471-7. 2009
    ..sperm injection (ICSI)] on the epigenetic reprogramming of the maternally methylated imprinting control region KvDMR1 in clinically normal children...
  35. ncbi Epigenetics of imprinted long noncoding RNAs
    Faizaan Mohammad
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    Epigenetics 4:277-86. 2009
    ..Recent emerging evidence indicates that long ncRNAs such as Kcnq1ot1 and Air which map to the Kcnq1 and Igf2r imprinted gene clusters, respectively, mediate the transcriptional ..
  36. doi Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells
    Marjorie Pick
    Stem Cell Unit, Department of Genetics, The Hebrew University, Edmund Safra Campus Givat Ram, Jerusalem 91904, Israel
    Stem Cells 27:2686-90. 2009
    ..However, we found biallelic expression of the H19 gene in one iPS cell line and biallelic expression of the KCNQ10T1 gene in another iPS cell line...
  37. doi Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonography
    Gwo Chin Ma
    Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan
    Fertil Steril 90:1279-82. 2008
    We described a simplified and high-performance test (E-Q-PCR) for rapid assessment of the DNA methylation status at LIT1, a major genetic locus of Beckwith-Wiedemann syndrome (BWS)...