KCNQ1OT1
| KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) | |||||
|---|---|---|---|---|---|
| Identifiers | |||||
| Symbols | KCNQ1OT1 ; KCNQ1-AS2; KCNQ10T1; Kncq1; KvDMR1; KvLQT1-AS; LIT1; NCRNA00012 | ||||
| External IDs | OMIM: 604115 GeneCards: KCNQ1OT1 Gene | ||||
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| Orthologs | |||||
| Species | Human | Mouse | |||
| Entrez | 10984 | n/a | |||
| Ensembl | ENSG00000269821 | n/a | |||
| UniProt | n/a | n/a | |||
| RefSeq (mRNA) | n/a | n/a | |||
| RefSeq (protein) | n/a | n/a | |||
| Location (UCSC) |
Chr 11: 2.61 – 2.7 Mb | n/a | |||
| PubMed search | n/a | ||||
KCNQ1 overlapping transcript 1, also known as KCNQ1OT1, is a long non-coding RNA gene found in the KCNQ1 locus. This locus consists of 8-10 protein-coding genes, specifically expressed from the maternal allele (including the KCNQ1 gene), and the paternally expressed non-coding RNA gene KCNQ1OT1.[1] KCNQ1OT1 is a nuclear, 91 kb transcript, found in close proximity to the nucleolus in certain cell types.[2][3]
It interacts with chromatin, the histone methyltransferase G9a (responsible for the mono- and dimethylation of histone 3 lysine 9, H3K9), and the Polycomb Repressive Complex 2, PRC2, (responsible for the trimethylation of H3K27).[2] It plays an important role in the transcriptional silencing of the KCNQ1 locus by regulating histone methylation.[1] An 890 bp region at the 5' end of KCNQ1OT1 acts as a silencing domain.[4][5] This region regulates CpG methylation levels of somatically acquired differentially methylated regions (DMRs), mediates the interaction of KCNQ1OT1 with chromatin and with DNA (cytosine-5)-methyltransferase 1 (DNMT1), but does not affect the interactions of histone methyltransferases with KCNQ1OT1.[5]
See also
References
- 1 2 Kanduri C (February 2011). "Kcnq1ot1: A chromatin regulatory RNA". Semin Cell Dev Biol 22 (4): 343–50. doi:10.1016/j.semcdb.2011.02.020. PMID 21345374.
- 1 2 Pandey RR, Mondal T, Mohammad F, Enroth S, Redrup L, Komorowski J, Nagano T, Mancini-Dinardo D, Kanduri C (October 2008). "Kcnq1ot1 antisense noncoding RNA mediates lineage-specific transcriptional silencing through chromatin-level regulation". Mol. Cell 32 (2): 232–46. doi:10.1016/j.molcel.2008.08.022. PMID 18951091.
- ↑ Fedoriw AM, Calabrese JM, Mu W, Yee D, Magnuson T (December 2012). "Differentiation-driven nucleolar association of the mouse imprinted Kcnq1 locus.". G3 2 (12): 1521–8. doi:10.1534/g3.112.004226. PMID 23275875.
- ↑ Mohammad F, Pandey RR, Nagano T, Chakalova L, Mondal T, Fraser P, Kanduri C (June 2008). "Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar region". Mol. Cell. Biol. 28 (11): 3713–28. doi:10.1128/MCB.02263-07. PMC 2423283. PMID 18299392.
- 1 2 Mohammad F, Mondal T, Guseva N, Pandey GK, Kanduri C (August 2010). "Kcnq1ot1 noncoding RNA mediates transcriptional gene silencing by interacting with Dnmt1". Development 137 (15): 2493–9. doi:10.1242/dev.048181. PMID 20573698.
Further reading
- Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence." (PDF). Nature 377 (6547 Suppl): 3–174. PMID 7566098.
- Lee MP, DeBaun MR, Mitsuya K, Galonek HL, Brandenburg S, Oshimura M, Feinberg AP (1999). "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.". Proc. Natl. Acad. Sci. U.S.A. 96 (9): 5203–8. doi:10.1073/pnas.96.9.5203. PMC 21842. PMID 10220444.
- Mitsuya K, Meguro M, Lee MP, Katoh M, Schulz TC, Kugoh H, Yoshida MA, Niikawa N, Feinberg AP, Oshimura M (1999). "LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids.". Hum. Mol. Genet. 8 (7): 1209–17. doi:10.1093/hmg/8.7.1209. PMID 10369866.
- Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, Nicholls RD, Weksberg R, Driscoll DJ, Maher ER, Shows TB, Higgins MJ (1999). "A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.". Proc. Natl. Acad. Sci. U.S.A. 96 (14): 8064–9. doi:10.1073/pnas.96.14.8064. PMC 22188. PMID 10393948.
- DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP (2002). "Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.". Am. J. Hum. Genet. 70 (3): 604–11. doi:10.1086/338934. PMC 384940. PMID 11813134.
- Cerrato F, Vernucci M, Pedone PV, Chiariotti L, Sebastio G, Bruni CB, Riccio A (2002). "The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.". Hum. Genet. 111 (1): 105–7. doi:10.1007/s00439-002-0751-1. PMID 12136243.
- DeBaun MR, Niemitz EL, Feinberg AP (2003). "Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.". Am. J. Hum. Genet. 72 (1): 156–60. doi:10.1086/346031. PMC 378620. PMID 12439823.
- Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, Le Bouc Y (2003). "In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.". Am. J. Hum. Genet. 72 (5): 1338–41. doi:10.1086/374824. PMC 1180288. PMID 12772698.
- Diaz-Meyer N, Day CD, Khatod K, Maher ER, Cooper W, Reik W, Junien C, Graham G, Algar E, Der Kaloustian VM, Higgins MJ (2004). "Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.". J. Med. Genet. 40 (11): 797–801. doi:10.1136/jmg.40.11.797. PMC 1735305. PMID 14627666.
- Soejima H, Nakagawachi T, Zhao W, Higashimoto K, Urano T, Matsukura S, Kitajima Y, Takeuchi M, Nakayama M, Oshimura M, Miyazaki K, Joh K, Mukai T (2004). "Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer.". Oncogene 23 (25): 4380–8. doi:10.1038/sj.onc.1207576. PMID 15007390.
- Du M, Zhou W, Beatty LG, Weksberg R, Sadowski PD (2005). "The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.". Genomics 84 (2): 288–300. doi:10.1016/j.ygeno.2004.03.008. PMID 15233993.
- Thakur N, Tiwari VK, Thomassin H, Pandey RR, Kanduri M, Göndör A, Grange T, Ohlsson R, Kanduri C (2004). "An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region.". Mol. Cell. Biol. 24 (18): 7855–62. doi:10.1128/MCB.24.18.7855-7862.2004. PMC 515059. PMID 15340049.
- Arima T, Kamikihara T, Hayashida T, Kato K, Inoue T, Shirayoshi Y, Oshimura M, Soejima H, Mukai T, Wake N (2005). "ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.". Nucleic Acids Res. 33 (8): 2650–60. doi:10.1093/nar/gki555. PMC 1097765. PMID 15888726.
- Higashimoto K, Soejima H, Saito T, Okumura K, Mukai T (2006). "Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer.". Cytogenet. Genome Res. 113 (1–4): 306–12. doi:10.1159/000090846. PMID 16575194.
- Geuns E, Hilven P, Van Steirteghem A, Liebaers I, De Rycke M (2007). "Methylation analysis of KvDMR1 in human oocytes". J. Med. Genet. 44 (2): 144–7. doi:10.1136/jmg.2006.044149. PMC 2598054. PMID 16950814.
- Nakano S, Murakami K, Meguro M, Soejima H, Higashimoto K, Urano T, Kugoh H, Mukai T, Ikeguchi M, Oshimura M (2006). "Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancers". Cancer Sci. 97 (11): 1147–54. doi:10.1111/j.1349-7006.2006.00305.x. PMID 16965397.
- Korostowski L, Sedlak N, Engel N (Sep 2012). "The Kcnq1ot1 long non-coding RNA affects chromatin conformation and expression of Kcnq1, but does not regulate its imprinting in the developing heart.". PLOS Genetics 8 (9): e1002956. doi:10.1371/journal.pgen.1002956. PMC 3447949. PMID 23028363.
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