CDKN2BAS

CDKN2B反義RNA 1內含子保守區
	CDKN2B-AS的預測二級結構與序列保守性
識別符
代號	CDKN2B-AS
Alt.代號	ANRIL
Rfam	RF01909
	其他數據
RNA類型	Gene;
域	Eukaryota;

CDKN2B反義RNA 1
CDKN2B反義RNA 1
標識
代號	CDKN2B-AS1; ANRIL; CDKN2B-AS; CDKN2BAS; NCRNA00089; p15AS
擴展標識	遺傳學：613149 GeneCards: CDKN2B-AS1 Gene
基因本體論描述
基因本體論描述
直系同源體
物種	人類
Entrez	100048912
Ensembl	ENSG00000240498
UniProt	n/a
mRNA序列	NR_003529
蛋白序列	n/a
基因位置	Chr 9:; 21.99 – 22.12 Mb
PubMed查詢	[1]
	閱; 論; 編;

CDKN2B-AS亦被稱為ANRIL（INK4基因座中反義非編碼RNA，英語：antisense non-coding RNA in the INK4 locus）是一條由19個外顯子組成的長鏈非編碼RNA，在基因組中橫跨12.63萬個鹼基對，轉錄產物被剪接為長3834個鹼基的RNA。該長鏈位於p15^CDKN2B-p16^CDKN2A-p14^ARF基因座中且與蛋白編碼基因呈反義方向轉錄。一些位於CDKN2B-AS的單核苷酸多態性位點（SNPs）改變其表達量，並與冠狀動脈性心臟病、糖尿病及多種癌症在內的許多疾病呈關聯性^[1]。該條長鏈與多梳抑制複合物1中的克羅莫框7（CBX7）及多梳抑制複合物2中的SUZ12相結合，並通過與這兩種多梳蛋白相互作用引起其它基因轉錄沉默^[2]^[3]。

另見

長鏈非編碼RNA

參考文獻

^ Cunnington MS, Santibanez Koref M, Mayosi BM, Burn J, Keavney B. Gibson, Greg , 編. Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. PLoS Genet. 2010, 6 (4): e1000899. PMC 2851566 . PMID 20386740. doi:10.1371/journal.pgen.1000899.
^ Yap KL, Li S, Muñoz-Cabello AM; et al. Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a. Mol. Cell. June 2010, 38 (5): 662–74. PMC 2886305 . PMID 20541999. doi:10.1016/j.molcel.2010.03.021.
^ Kotake Y, Nakagawa T, Kitagawa K; et al. Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene. Oncogene. December 2010, 30 (16): 1956–1962. PMID 21151178. doi:10.1038/onc.2010.568.

深入閱讀

Mußotter, T; Kluwe, L; Högel, J; Nguyen, R; Cooper, DN; Mautner, VF; Kehrer-Sawatzki, H. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.. BMC medical genetics. Oct 26, 2012, 13: 98. PMC 3500256 . PMID 23101500. doi:10.1186/1471-2350-13-98.
McPherson R, Pertsemlidis A, Kavaslar N; et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007, 316 (5830): 1488–91. PMC 2711874 . PMID 17478681. doi:10.1126/science.1142447.
Folkersen L, Kyriakou T, Goel A; et al. Reitsma, Pieter H. , 編. Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants. PLoS ONE. 2009, 4 (11): e7677. PMC 2765615 . PMID 19888323. doi:10.1371/journal.pone.0007677.
Uno S, Zembutsu H, Hirasawa A; et al. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat. Genet. 2010, 42 (8): 707–10. PMID 20601957. doi:10.1038/ng.612.
Wrensch M, Jenkins RB, Chang JS; et al. Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Nat. Genet. 2009, 41 (8): 905–8. PMC 2923561 . PMID 19578366. doi:10.1038/ng.408.
Gretarsdottir S, Baas AF, Thorleifsson G; et al. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat. Genet. 2010, 42 (8): 692–7. PMID 20622881. doi:10.1038/ng.622.
Bilguvar K, Yasuno K, NiemelÃ¤ M; et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat. Genet. 2008, 40 (12): 1472–7. PMC 2682433 . PMID 18997786. doi:10.1038/ng.240.
Sato K, Nakagawa H, Tajima A; et al. ANRIL is implicated in the regulation of nucleus and potential transcriptional target of E2F1. Oncol. Rep. 2010, 24 (3): 701–7. PMID 20664976.
Yasuno K, Bilguvar K, Bijlenga P; et al. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat. Genet. 2010, 42 (5): 420–5. PMC 2861730 . PMID 20364137. doi:10.1038/ng.563.
Broadbent HM, Peden JF, Lorkowski S; et al. Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. Hum. Mol. Genet. 2008, 17 (6): 806–14. PMID 18048406. doi:10.1093/hmg/ddm352.
Hashikata H, Liu W, Inoue K; et al. Confirmation of an association of single-nucleotide polymorphism rs1333040 on 9p21 with familial and sporadic intracranial aneurysms in Japanese patients. Stroke. 2010, 41 (6): 1138–44. PMID 20395613. doi:10.1161/STROKEAHA.109.576694.
Helgadottir A, Thorleifsson G, Manolescu A; et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007, 316 (5830): 1491–3. PMID 17478679. doi:10.1126/science.1142842.
Yang XR, Liang X, Pfeiffer RM; et al. Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations. Fam. Cancer. 2010, 9 (4): 625–33. PMID 20574843. doi:10.1007/s10689-010-9356-3.
Shete S, Hosking FJ, Robertson LB; et al. Genome-wide association study identifies five susceptibility loci for glioma. Nat. Genet. 2009, 41 (8): 899–904. PMID 19578367. doi:10.1038/ng.407.
Kathiresan S, Voight BF; et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat. Genet. 2009, 41 (3): 334–41. PMC 2681011 . PMID 19198609. doi:10.1038/ng.327.
Bei JX, Li Y, Jia WH; et al. A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. Nat. Genet. 2010, 42 (7): 599–603. PMID 20512145. doi:10.1038/ng.601.
Turnbull C, Ahmed S, Morrison J; et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat. Genet. 2010, 42 (6): 504–7. PMID 20453838. doi:10.1038/ng.586.
Schaefer AS, Richter GM, Groessner-Schreiber B; et al. Marchini, Jonathan , 編. Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. PLoS Genet. 2009, 5 (2): e1000378. PMC 2632758 . PMID 19214202. doi:10.1371/journal.pgen.1000378.

外部連結

CDKN2B antisense RNA 1 intronic conserved region的Rfam頁面

[pmid20386740-1] Cunnington MS, Santibanez Koref M, Mayosi BM, Burn J, Keavney B. Gibson, Greg , 編. Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. PLoS Genet. 2010, 6 (4): e1000899. PMC 2851566 . PMID 20386740. doi:10.1371/journal.pgen.1000899.

[pmid20541999-2] Yap KL, Li S, Muñoz-Cabello AM; et al. Molecular interplay of the noncoding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a. Mol. Cell. June 2010, 38 (5): 662–74. PMC 2886305 . PMID 20541999. doi:10.1016/j.molcel.2010.03.021.

[pmid21151178-3] Kotake Y, Nakagawa T, Kitagawa K; et al. Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene. Oncogene. December 2010, 30 (16): 1956–1962. PMID 21151178. doi:10.1038/onc.2010.568.

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