KCNQ1OT1
From Wikipedia, the free encyclopedia
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KCNQ1 overlapping transcript 1
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| Identifiers | |||||
| Symbol(s) | KCNQ1OT1; KCNQ10T1; KvDMR1; KvLQT1-AS; LIT1 | ||||
| External IDs | OMIM: 604115 | ||||
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| Orthologs | |||||
| Human | Mouse | ||||
| Entrez | 10984 | n/a
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| Pubmed search | [1] | n/a | |||
KCNQ1 overlapping transcript 1, also known as KCNQ1OT1, is a human gene.[1]
[edit] References
[edit] Further reading
- Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence.". Nature 377 (6547 Suppl): 3-174. PMID 7566098.
- Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807-28. PMID 8889549.
- Lee MP, DeBaun MR, Mitsuya K, et al. (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. PMID 10220444.
- Mitsuya K, Meguro M, Lee MP, et al. (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. PMID 10369866.
- Smilinich NJ, Day CD, Fitzpatrick GV, et al. (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. PMID 10393948.
- DeBaun MR, Niemitz EL, McNeil DE, et al. (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. PMID 11813134.
- Cerrato F, Vernucci M, Pedone PV, et al. (2002). "The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.". Hum. Genet. 111 (1): 105-7. doi:. 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. PMID 12439823.
- Gicquel C, Gaston V, Mandelbaum J, et al. (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. PMID 12772698.
- Diaz-Meyer N, Day CD, Khatod K, et al. (2004). "Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.". J. Med. Genet. 40 (11): 797-801. PMID 14627666.
- Soejima H, Nakagawachi T, Zhao W, et al. (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:. PMID 15007390.
- Du M, Zhou W, Beatty LG, et al. (2005). "The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.". Genomics 84 (2): 288-300. doi:. PMID 15233993.
- Thakur N, Tiwari VK, Thomassin H, et al. (2004). "An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region.". Mol. Cell. Biol. 24 (18): 7855-62. doi:. PMID 15340049.
- Arima T, Kamikihara T, Hayashida T, et al. (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:. PMID 15888726.
- Higashimoto K, Soejima H, Saito T, et al. (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:. PMID 16575194.
- Geuns E, Hilven P, Van Steirteghem A, et al. (2007). "Methylation analysis of KvDMR1 in human oocytes.". J. Med. Genet. 44 (2): 144-7. doi:. PMID 16950814.
- Nakano S, Murakami K, Meguro M, et al. (2006). "Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancers.". Cancer Sci. 97 (11): 1147-54. doi:. PMID 16965397.

