KCNQ1OT1
KCNQ1 overlapping transcript 1 | |||||
---|---|---|---|---|---|
Identifiers | |||||
Symbols | KCNQ1OT1 ; KCNQ10T1; KvDMR1; KvLQT1-AS; LIT1 | ||||
External IDs | Template:OMIM5 | ||||
| |||||
Orthologs | |||||
Template:GNF Ortholog box | |||||
Species | Human | Mouse | |||
Entrez | n/a | n/a | |||
Ensembl | n/a | n/a | |||
UniProt | n/a | n/a | |||
RefSeq (mRNA) | n/a | n/a | |||
RefSeq (protein) | n/a | n/a | |||
Location (UCSC) | n/a | n/a | |||
PubMed search | n/a | n/a |
KCNQ1 overlapping transcript 1, also known as KCNQ1OT1, is a human gene.[1]
References
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: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. 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:10.1038/sj.onc.1207576. 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:10.1016/j.ygeno.2004.03.008. 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:10.1128/MCB.24.18.7855-7862.2004. 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:10.1093/nar/gki555. 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:10.1159/000090846. 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:10.1136/jmg.2006.044149. 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:10.1111/j.1349-7006.2006.00305.x. PMID 16965397.
This protein-related article is a stub. You can help Wikipedia by expanding it. |