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Gene Review

KCNQ1OT1  -  KCNQ1 opposite strand/antisense transcript...

Homo sapiens

Synonyms: KCNQ1-AS2, KCNQ10T1, KvDMR1, KvLQT1-AS, LIT1, ...
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Disease relevance of KCNQ1OT1


High impact information on KCNQ1OT1

  • In this study, we identify and characterize LIT1, a novel L. amazonensis membrane protein with extensive similarity to IRT1, a ZIP family ferrous iron transporter from Arabidopsis thaliana [6].
  • Although L. amazonensis lacking LIT1 grew normally in axenic culture and had no defects differentiating into infective forms, replication within macrophages was abolished [6].
  • The causes are heterogeneous, involving multiple genes on 11p15 and 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 [7].
  • Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome [7].
  • When inherited paternally, there is no phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans [7].

Chemical compound and disease context of KCNQ1OT1


Biological context of KCNQ1OT1


Anatomical context of KCNQ1OT1

  • The principal aim of this study was to evaluate the usefulness of KvDMR1 methylation analysis of leukocyte DNA for the diagnosis of BWS [12].
  • METHODS: The steady state levels of CDKN1C gene expression in fibroblast cells from normal individuals, and from persons with BWS who have LOM at KvDMR1, was determined by both real time quantitative polymerase chain reaction (qPCR) and ribonuclease protection assay (RPA) [13].
  • Furthermore, the frequency of altered DNA methylation of LIT1 in patients with midline abdominal-wall defects and macrosomia was significantly higher, 65% (41/63) and 60% (46/77), respectively, than in patients without such defects, 34% (10/29) and 18% (2/11), respectively (P=.012 and P=.02, respectively) [5].
  • To clarify this, we investigated the CpG methylation index of the CDKN1C promoter and the differentially methylated region of the LIT1 CpG island (differentially methylated region (DMR)-LIT1), an imprinting control region of the domain, and CDKN1C expression in esophageal cancer cell lines [8].
  • However, whereas the MPE has no influence on expression from a heterologous promoter in the non-apoB-expressing HeLa cells, these cells still contain a DNA-binding activity indistinguishable from LIT1 [14].

Associations of KCNQ1OT1 with chemical compounds


Regulatory relationships of KCNQ1OT1

  • ZAC induces LIT1 transcription in a methylation-dependent manner [11].

Other interactions of KCNQ1OT1

  • We have also found two novel silencer sequences; one is located in KvDMR, a region that is thought to contain the promoter for the KCNQ1OT1 transcript, and another is in the CDKN1C gene [17].
  • We have screened 10 autosomal dominant pedigrees and 65 sporadic BWS cases by PCR/heteroduplex analysis and DNA sequencing and have identified four mutations, two of which were associated with biallelic IGF2 expression and normal H19 and KCNQ1OT1 imprinting [18].
  • Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS [9].
  • An imprinted antisense transcript within KCNQ1, called KCNQ1OT (also known as LIT1), was recently shown to be normally expressed from the paternal allele [12].
  • Similarly, 21 of 36 (58%) BWS patients showed loss of maternal allele-specific methylation of a CpG island upstream of LIT1 [19].

Analytical, diagnostic and therapeutic context of KCNQ1OT1


  1. The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5. Du, M., Zhou, W., Beatty, L.G., Weksberg, R., Sadowski, P.D. Genomics (2004) [Pubmed]
  2. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Weksberg, R., Nishikawa, J., Caluseriu, O., Fei, Y.L., Shuman, C., Wei, C., Steele, L., Cameron, J., Smith, A., Ambus, I., Li, M., Ray, P.N., Sadowski, P., Squire, J. Hum. Mol. Genet. (2001) [Pubmed]
  3. Loss of imprinting of long QT intronic transcript 1 in colorectal cancer. Tanaka, K., Shiota, G., Meguro, M., Mitsuya, K., Oshimura, M., Kawasaki, H. Oncology (2001) [Pubmed]
  4. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. Shuman, C., Smith, A.C., Steele, L., Ray, P.N., Clericuzio, C., Zackai, E., Parisi, M.A., Meadows, A.T., Kelly, T., Tichauer, D., Squire, J.A., Sadowski, P., Weksberg, R. Am. J. Med. Genet. A (2006) [Pubmed]
  5. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. DeBaun, M.R., Niemitz, E.L., McNeil, D.E., Brandenburg, S.A., Lee, M.P., Feinberg, A.P. Am. J. Hum. Genet. (2002) [Pubmed]
  6. A Leishmania amazonensis ZIP family iron transporter is essential for parasite replication within macrophage phagolysosomes. Huynh, C., Sacks, D.L., Andrews, N.W. J. Exp. Med. (2006) [Pubmed]
  7. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. Niemitz, E.L., DeBaun, M.R., Fallon, J., Murakami, K., Kugoh, H., Oshimura, M., Feinberg, A.P. Am. J. Hum. Genet. (2004) [Pubmed]
  8. Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer. 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. Oncogene (2004) [Pubmed]
  9. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Bliek, J., Maas, S.M., Ruijter, J.M., Hennekam, R.C., Alders, M., Westerveld, A., Mannens, M.M. Hum. Mol. Genet. (2001) [Pubmed]
  10. Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11. Beatty, L., Weksberg, R., Sadowski, P.D. Genomics (2006) [Pubmed]
  11. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. Arima, T., Kamikihara, T., Hayashida, T., Kato, K., Inoue, T., Shirayoshi, Y., Oshimura, M., Soejima, H., Mukai, T., Wake, N. Nucleic Acids Res. (2005) [Pubmed]
  12. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Gaston, V., Le Bouc, Y., Soupre, V., Burglen, L., Donadieu, J., Oro, H., Audry, G., Vazquez, M.P., Gicquel, C. Eur. J. Hum. Genet. (2001) [Pubmed]
  13. Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. Diaz-Meyer, N., Day, C.D., Khatod, K., Maher, E.R., Cooper, W., Reik, W., Junien, C., Graham, G., Algar, E., Der Kaloustian, V.M., Higgins, M.J. J. Med. Genet. (2003) [Pubmed]
  14. Two nuclear proteins bind to the major positive element of the apolipoprotein B gene promoter. Carlsson, P., Eriksson, P., Bjursell, G. Gene (1990) [Pubmed]
  15. Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes. Sperandeo, M.P., Ungaro, P., Vernucci, M., Pedone, P.V., Cerrato, F., Perone, L., Casola, S., Cubellis, M.V., Bruni, C.B., Andria, G., Sebastio, G., Riccio, A. Am. J. Hum. Genet. (2000) [Pubmed]
  16. A novel in vitro system for analyzing parental allele-specific histone acetylation in genomic imprinting. Yoshioka, H., Shirayoshi, Y., Oshimura, M. J. Hum. Genet. (2001) [Pubmed]
  17. Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5. Du, M., Beatty, L.G., Zhou, W., Lew, J., Schoenherr, C., Weksberg, R., Sadowski, P.D. Hum. Mol. Genet. (2003) [Pubmed]
  18. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Li, M., Squire, J., Shuman, C., Fei, Y.L., Atkin, J., Pauli, R., Smith, A., Nishikawa, J., Chitayat, D., Weksberg, R. Genomics (2001) [Pubmed]
  19. 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. Lee, M.P., DeBaun, M.R., Mitsuya, K., Galonek, H.L., Brandenburg, S., Oshimura, M., Feinberg, A.P. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  20. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. Engel, J.R., Smallwood, A., Harper, A., Higgins, M.J., Oshimura, M., Reik, W., Schofield, P.N., Maher, E.R. J. Med. Genet. (2000) [Pubmed]
  21. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. Eggermann, T., Schönherr, N., Meyer, E., Obermann, C., Mavany, M., Eggermann, K., Ranke, M.B., Wollmann, H.A. J. Med. Genet. (2006) [Pubmed]
  22. Expression profile of LIT1/KCNQ1OT1 and epigenetic status at the KvDMR1 in colorectal cancers. Nakano, S., Murakami, K., Meguro, M., Soejima, H., Higashimoto, K., Urano, T., Kugoh, H., Mukai, T., Ikeguchi, M., Oshimura, M. Cancer Sci. (2006) [Pubmed]
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