CDKN2BAS
| CDKN2B antisense RNA 1 | |||||
|---|---|---|---|---|---|
| Identifiers | |||||
| Symbols | CDKN2B-AS1 ; ANRIL; CDKN2B-AS; CDKN2BAS; NCRNA00089; PCAT12; p15AS | ||||
| External IDs | OMIM: 613149 GeneCards: CDKN2B-AS1 Gene | ||||
| |||||
| Orthologs | |||||
| Species | Human | Mouse | |||
| Entrez | 100048912 | n/a | |||
| Ensembl | ENSG00000240498 | n/a | |||
| UniProt | n/a | n/a | |||
| RefSeq (mRNA) | n/a | n/a | |||
| RefSeq (protein) | n/a | n/a | |||
| Location (UCSC) |
Chr 9: 21.99 – 22.12 Mb | n/a | |||
| PubMed search | n/a | ||||
| CDKN2B antisense RNA 1 intronic convserved region | |
|---|---|
 | |
| Predicted secondary structure and sequence conservation of CDKN2B-AS | |
| Identifiers | |
| Symbol | CDKN2B-AS |
| Alt. Symbols | ANRIL |
| Rfam | RF01909 |
| Other data | |
| RNA type | Gene; |
| Domain(s) | Eukaryota; |
| GO | 0006342 0005515 |
| SO | 0001463 |
CDKN2B-AS, also known as ANRIL (antisense non-coding RNA in the INK4 locus) is a long non-coding RNA consisting of 19 exons, spanning 126.3kb in the genome, and its spliced product is a 3834bp RNA. It is located within the p15/CDKN2B-p16/CDKN2A-p14/ARF gene cluster, in the antisense direction. Single nucleotide polymorphisms (SNPs) which alter the expression of CDKN2B-AS are associated with many diseases, including coronary artery disease, diabetes and many cancers.[1] It binds to chromobox 7 (CBX7) within the polycomb repressive complex 1 and to SUZ12, a component of polycomb repression complex 2 and through these interactions is involved in transcriptional repression.[2][3]
See also
References
- ↑ Cunnington MS, Santibanez Koref M, Mayosi BM, Burn J, Keavney B (2010). Gibson, Greg, ed. "Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression". PLoS Genet. 6 (4): e1000899. doi:10.1371/journal.pgen.1000899. PMC 2851566. PMID 20386740.
- ↑ Yap KL, Li S, Muñoz-Cabello AM; et al. (June 2010). "Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a". Mol. Cell 38 (5): 662–74. doi:10.1016/j.molcel.2010.03.021. PMC 2886305. PMID 20541999.
- ↑ Kotake Y, Nakagawa T, Kitagawa K; et al. (December 2010). "Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene". Oncogene 30 (16): 1956–1962. doi:10.1038/onc.2010.568. PMC 3230933. PMID 21151178.
Further reading
- Mußotter, T; Kluwe, L; Högel, J; Nguyen, R; Cooper, DN; Mautner, VF; Kehrer-Sawatzki, H (Oct 26, 2012). "Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.". BMC medical genetics 13: 98. doi:10.1186/1471-2350-13-98. PMC 3500256. PMID 23101500.
- McPherson R, Pertsemlidis A, Kavaslar N; et al. (2007). "A common allele on chromosome 9 associated with coronary heart disease". Science 316 (5830): 1488–91. doi:10.1126/science.1142447. PMC 2711874. PMID 17478681.
- Folkersen L, Kyriakou T, Goel A; et al. (2009). Reitsma, Pieter H., ed. "Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants". PLoS ONE 4 (11): e7677. doi:10.1371/journal.pone.0007677. PMC 2765615. PMID 19888323.
- Uno S, Zembutsu H, Hirasawa A; et al. (2010). "A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese". Nat. Genet. 42 (8): 707–10. doi:10.1038/ng.612. PMID 20601957.
- Wrensch M, Jenkins RB, Chang JS; et al. (2009). "Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility". Nat. Genet. 41 (8): 905–8. doi:10.1038/ng.408. PMC 2923561. PMID 19578366.
- Gretarsdottir S, Baas AF, Thorleifsson G; et al. (2010). "Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm". Nat. Genet. 42 (8): 692–7. doi:10.1038/ng.622. PMID 20622881.
- Bilguvar K, Yasuno K, Niemelä M; et al. (2008). "Susceptibility loci for intracranial aneurysm in European and Japanese populations". Nat. Genet. 40 (12): 1472–7. doi:10.1038/ng.240. PMC 2682433. PMID 18997786.
- Sato K, Nakagawa H, Tajima A; et al. (2010). "ANRIL is implicated in the regulation of nucleus and potential transcriptional target of E2F1". Oncol. Rep. 24 (3): 701–7. doi:10.3892/or_00000910. PMID 20664976.
- Yasuno K, Bilguvar K, Bijlenga P; et al. (2010). "Genome-wide association study of intracranial aneurysm identifies three new risk loci". Nat. Genet. 42 (5): 420–5. doi:10.1038/ng.563. PMC 2861730. PMID 20364137.
- Broadbent HM, Peden JF, Lorkowski S; et al. (2008). "Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p". Hum. Mol. Genet. 17 (6): 806–14. doi:10.1093/hmg/ddm352. PMID 18048406.
- Hashikata H, Liu W, Inoue K; et al. (2010). "Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients". Stroke 41 (6): 1138–44. doi:10.1161/STROKEAHA.109.576694. PMID 20395613.
- Helgadottir A, Thorleifsson G, Manolescu A; et al. (2007). "A common variant on chromosome 9p21 affects the risk of myocardial infarction". Science 316 (5830): 1491–3. doi:10.1126/science.1142842. PMID 17478679.
- Yang XR, Liang X, Pfeiffer RM; et al. (2010). "Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations". Fam. Cancer 9 (4): 625–33. doi:10.1007/s10689-010-9356-3. PMC 3233727. PMID 20574843.
- Shete S, Hosking FJ, Robertson LB; et al. (2009). "Genome-wide association study identifies five susceptibility loci for glioma". Nat. Genet. 41 (8): 899–904. doi:10.1038/ng.407. PMID 19578367.
- Kathiresan S, Voight BF; et al. (2009). "Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants". Nat. Genet. 41 (3): 334–41. doi:10.1038/ng.327. PMC 2681011. PMID 19198609.
- Bei JX, Li Y, Jia WH; et al. (2010). "A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci". Nat. Genet. 42 (7): 599–603. doi:10.1038/ng.601. PMID 20512145.
- Turnbull C, Ahmed S, Morrison J; et al. (2010). "Genome-wide association study identifies five new breast cancer susceptibility loci". Nat. Genet. 42 (6): 504–7. doi:10.1038/ng.586. PMID 20453838.
- Schaefer AS, Richter GM, Groessner-Schreiber B; et al. (2009). Marchini, Jonathan, ed. "Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis". PLoS Genet. 5 (2): e1000378. doi:10.1371/journal.pgen.1000378. PMC 2632758. PMID 19214202.
External links
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