Genomes and Genes
Gene Symbol: KCNQ1OT1
Description: KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
Alias: KCNQ1-AS2, KCNQ10T1, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012
- LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybridsK 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 ..
- Two distinct mechanisms of silencing by the KvDMR1 imprinting control regionJong 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 ..
- Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar regionFaizaan Mohammad
Uppsala University, Department of Genetics and Pathology, Rudbeck Laboratory, Dag Hammarskölds Väg 20, 75185 Uppsala, Sweden
Mol Cell Biol 28:3713-28. 2008The Kcnq1ot1 antisense noncoding RNA has been implicated in long-range bidirectional silencing, but the underlying mechanisms remain enigmatic...
- Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulationRadha 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 ..
- ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndromeTakahiro 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...
- Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndromeN 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...
- In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT geneChristine Gicquel
Am J Hum Genet 72:1338-41. 2003
- Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19Michael 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...
- 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 imprintingM 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 ..
- A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndromeN 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...
- In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsSonia Mayo
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Avenida de Campanar 21, 46009 Valencia, Spain
Biomed Res Int 2015:341986. 2015..with syndromic ID/autism we found five patients with altered methylation in the four genes studied: MEG3, H19, KCNQ1OT1, and SNRPN...
- Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetesMaggie C Y Ng
Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston Salem, North Carolina, United States of America Center for Diabetes Research, Wake Forest School of Medicine, Winston Salem, North Carolina, United States of America
PLoS Genet 10:e1004517. 2014..A substantial number of previously reported loci are transferable to African Americans after accounting for linkage disequilibrium, enabling fine mapping of causal variants in trans-ethnic meta-analysis studies...
- No evidence for copy number and methylation variation in H19 and KCNQ10T1 imprinting control regions in children born small for gestational ageRinki Murphy
Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
BMC Med Genet 15:67. 2014..We investigated whether common variation in copy number in the BWS/SRS 11p15 region or altered methylation levels at IGF2/H19 ICR or KCNQ10T1 ICR was associated with SGA.
- Long non-coding RNA chromogenic in situ hybridisation signal pattern correlation with breast tumour pathologyZhouwei Zhang
Department of Pathology and Laboratory Medicine, University of Vermont College of Medicine, Burlington, Vermont, USA Laboratory of Cancer Epigenetics, Van Andel Research Institute, NE Grand Rapids, Michigan, USA
J Clin Pathol 69:76-81. 2016..In this study, six breast cancer-implicated lncRNAs were investigated by chromogenic in situ hybridisation (CISH)...
- A novel tetranucleotide repeat polymorphism within KCNQ1OT1 confers risk for hepatocellular carcinomaJiao Wan
1 Department of Forensic Medicine, Medical College of Soochow University, Suzhou, People s Republic of China
DNA Cell Biol 32:628-34. 2013KCNQ1 overlapping transcript 1 (KCNQ1OT1), a long noncoding RNA responsible for silencing a cluster of genes in cis, has been shown to be involved in multiple cancers...
- Abnormal methylation of KCNQ1OT1 and differential methylation of H19 imprinting control regions in human ICSI embryosRita Khoueiry
Inserm U846, Institut Cellule Souche et Cerveau, 18 av Doyen Lépine, 69500 Bron, France
Zygote 21:129-38. 2013..normally following intracytoplasmic sperm injection (ICSI), we analysed the methylation profile of H19 and KCNQ1OT1 imprinting control regions, H19DMR and KvDMR1 respectively, in high-grade blastocysts and in embryos that ..
- Regulation of functional KCNQ1OT1 lncRNA by β-cateninNaohiro Sunamura
Department of Biomedical Science, Institute of Regenerative Medicine and Biofunction, Graduate School of Medical Science, Tottori University, 86 NIshi cho, Yonago, Tottori 683 8503, Japan
Sci Rep 6:20690. 2016..We previously reported that KCNQ1OT1, an imprinted antisense lncRNA in the human KCNQ1 locus on chromosome 11p15...
- 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 bovineKatherine 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...
- Mechanisms of long range silencing by imprinted macro non-coding RNAsFlorian 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...
- 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...
- Antisense noncoding RNA promoter regulates the timing of de novo methylation of an imprinting control regionNatalia 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-..
- The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome casesNicoletta 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...
- Long non-coding RNA modifies chromatin: epigenetic silencing by long non-coding RNAsAlka 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...
- New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defectsJulie 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)...
- DNA methylation patterns of imprinting centers for H19, SNRPN, and KCNQ1OT1 in single-cell clones of human amniotic fluid mesenchymal stem cellHsiu Huei Peng
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University, Tao Yuan, Taiwan
Taiwan J Obstet Gynecol 51:342-9. 2012To 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.
- Kcnq1ot1: a chromatin regulatory RNAChandrasekhar 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 ..
- Microdeletion of LIT1 in familial Beckwith-Wiedemann syndromeEmily 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...
- Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defectsMichael 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...
- Expression of imprinted genes related to Beckwith-Wiedemann syndrome in human oocytes and preimplantation embryosWen 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...
- Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndromeAnant 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...
- An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control regionNoopur 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...
- The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5Minjie 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...
- Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancerHidenobu 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...
- The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndromeFlavia Cerrato
Dipartimento di Scienze Ambientali, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
Hum Genet 111:105-7. 2002
- Rapid prenatal confirmation of LIT1 hypomethylation using a novel quantitative method (E-Q-PCR) in fetuses with Beckwith-Wiedemann syndrome impressed with ultrasonographyGwo Chin Ma
Department of Medical Research, Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan
Fertil Steril 90:1279-82. 2008We 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)...
- Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancerK 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...
- Vitrification at the germinal vesicle stage does not affect the methylation profile of H19 and KCNQ1OT1 imprinting centers in human oocytes subsequently matured in vitroMohamed 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...
- DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndromeS 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 ..
- Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cellsMarjorie 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...
- Epigenetics of imprinted long noncoding RNAsFaizaan 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 ..
- Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologiesM 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...
- Methylation analysis of KvDMR1 in human oocytesElke 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...
- Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytesR 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...
- Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancersSeiji 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. 2006The 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...