Biology:CDKN2BAS
From HandWiki
Short description: Non-coding RNA in the species Homo sapiens
 Generic protein structure example |
| 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 |
| PDB structures | PDBe |
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 human healthy life expectancy, as well as with multiple 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
- Long noncoding RNA
References
- ↑ Gibson, Greg, ed (April 2010). "Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression". PLOS Genetics 6 (4): e1000899. doi:10.1371/journal.pgen.1000899. PMID 20386740.
- ↑ "Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a". Molecular Cell 38 (5): 662–674. June 2010. doi:10.1016/j.molcel.2010.03.021. PMID 20541999.
- ↑ "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. April 2011. doi:10.1038/onc.2010.568. PMID 21151178.
Further reading
- "Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions". BMC Medical Genetics 13: 98. October 2012. doi:10.1186/1471-2350-13-98. PMID 23101500.
- "A common allele on chromosome 9 associated with coronary heart disease". Science 316 (5830): 1488–1491. June 2007. doi:10.1126/science.1142447. PMID 17478681. Bibcode: 2007Sci...316.1488M.
- Reitsma, Pieter H., ed (November 2009). "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. PMID 19888323. Bibcode: 2009PLoSO...4.7677F.
- "A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese". Nature Genetics 42 (8): 707–710. August 2010. doi:10.1038/ng.612. PMID 20601957.
- "Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility". Nature Genetics 41 (8): 905–908. August 2009. doi:10.1038/ng.408. PMID 19578366.
- "Susceptibility loci for intracranial aneurysm in European and Japanese populations". Nature Genetics 40 (12): 1472–1477. December 2008. doi:10.1038/ng.240. PMID 18997786.
- "ANRIL is implicated in the regulation of nucleus and potential transcriptional target of E2F1". Oncology Reports 24 (3): 701–707. September 2010. doi:10.3892/or_00000910. PMID 20664976.
- "Genome-wide association study of intracranial aneurysm identifies three new risk loci". Nature Genetics 42 (5): 420–425. May 2010. doi:10.1038/ng.563. PMID 20364137.
- "Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p". Human Molecular Genetics 17 (6): 806–814. March 2008. doi:10.1093/hmg/ddm352. PMID 18048406.
- "Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients". Stroke 41 (6): 1138–1144. June 2010. doi:10.1161/STROKEAHA.109.576694. PMID 20395613.
- "A common variant on chromosome 9p21 affects the risk of myocardial infarction". Science 316 (5830): 1491–1493. June 2007. doi:10.1126/science.1142842. PMID 17478679. Bibcode: 2007Sci...316.1491H.
- "Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations". Familial Cancer 9 (4): 625–633. December 2010. doi:10.1007/s10689-010-9356-3. PMID 20574843.
- "Genome-wide association study identifies five susceptibility loci for glioma". Nature Genetics 41 (8): 899–904. August 2009. doi:10.1038/ng.407. PMID 19578367.
- "A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci". Nature Genetics 42 (7): 599–603. July 2010. doi:10.1038/ng.601. PMID 20512145.
- "Genome-wide association study identifies five new breast cancer susceptibility loci". Nature Genetics 42 (6): 504–507. June 2010. doi:10.1038/ng.586. PMID 20453838.
- Marchini, Jonathan, ed (February 2009). "Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis". PLOS Genetics 5 (2): e1000378. doi:10.1371/journal.pgen.1000378. PMID 19214202.
- "ANRIL and atherosclerosis". Journal of Clinical Pharmacy and Therapeutics 45 (2): 240–248. April 2020. doi:10.1111/jcpt.13060. PMID 31703157.
External links
- Page for CDKN2B antisense RNA 1 intronic conserved region at Rfam
- Human CDKN2B-AS genome location and CDKN2B-AS gene details page in the UCSC Genome Browser.
- Human CDKN2B-AS1 genome location and CDKN2B-AS1 gene details page in the UCSC Genome Browser.
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