CDKN2BAS

CDKN2B-AS亦被称为ANRIL（INK4基因座中反义非编码RNA，英語：antisense non-coding RNA in the INK4 locus）是一条由19个外显子组成的长链非编码RNA，在基因组中横跨12.63万个碱基对，转录产物被剪接为长3834个碱基的RNA。该长链位于p15^CDKN2B-p16^CDKN2A-p14^ARF基因座中且与蛋白编码基因呈反义方向转录。一些位于CDKN2B-AS的單核苷酸多態性位点（SNPs）改变其表达量，并与冠狀動脈性心臟病、糖尿病及多种癌症在内的许多疾病呈关联性^[1]。该条长链与多梳抑制复合物1中的克罗莫框7（CBX7）及多梳抑制复合物2中的SUZ12相结合，并通过与这两种多梳蛋白相互作用引起其它基因转录沉默^[2]^[3]。

CDKN2B反义RNA 1

标识

CDKN2B-AS1; ANRIL; CDKN2B-AS; CDKN2BAS; NCRNA00089; p15AS

扩展标识

遗传学：613149 GeneCards: CDKN2B-AS1 Gene

基因本体论描述

直系同源体

物种

人类

小鼠

n/a

ENSG00000240498

n/a

n/a

n/a

mRNA序列

n/a

蛋白序列

n/a

n/a

基因位置

Chr 9:
21.99 – 22.12 Mb

n/a

PubMed查询

n/a

CDKN2B反义RNA 1内含子保守区

CDKN2B-AS的预测二级结构与序列保守性
识别符
代号	CDKN2B-AS
Alt.代号	ANRIL
Rfam	RF01909
其他数据
RNA类型	Gene;
域	Eukaryota;

另见

长链非编码RNA

参考文献

^ Cunnington MS, Santibanez Koref M, Mayosi BM, Burn J, Keavney B. Gibson, Greg , 编. 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.

深入阅读

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. , 编. 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 , 编. 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.

外部链接

CDKN2B antisense RNA 1 intronic conserved region的Rfam页面

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