Howard Hughes Medical Institute and Program in Epithelial Biology, California 94305, USA.
Nature. 2010 Apr 15;464(7291):1071-6. doi: 10.1038/nature08975.
Large intervening non-coding RNAs (lincRNAs) are pervasively transcribed in the genome yet their potential involvement in human disease is not well understood. Recent studies of dosage compensation, imprinting, and homeotic gene expression suggest that individual lincRNAs can function as the interface between DNA and specific chromatin remodelling activities. Here we show that lincRNAs in the HOX loci become systematically dysregulated during breast cancer progression. The lincRNA termed HOTAIR is increased in expression in primary breast tumours and metastases, and HOTAIR expression level in primary tumours is a powerful predictor of eventual metastasis and death. Enforced expression of HOTAIR in epithelial cancer cells induced genome-wide re-targeting of Polycomb repressive complex 2 (PRC2) to an occupancy pattern more resembling embryonic fibroblasts, leading to altered histone H3 lysine 27 methylation, gene expression, and increased cancer invasiveness and metastasis in a manner dependent on PRC2. Conversely, loss of HOTAIR can inhibit cancer invasiveness, particularly in cells that possess excessive PRC2 activity. These findings indicate that lincRNAs have active roles in modulating the cancer epigenome and may be important targets for cancer diagnosis and therapy.
长链非编码 RNA(lincRNAs)广泛转录于基因组中,但它们在人类疾病中的潜在作用尚未得到很好的理解。最近关于剂量补偿、印迹和同源基因表达的研究表明,单个 lincRNAs 可以作为 DNA 和特定染色质重塑活性之间的接口。在这里,我们表明 HOX 基因座中的 lincRNAs 在乳腺癌进展过程中会被系统性地失调。称为 HOTAIR 的 lincRNA 在原发性乳腺癌肿瘤和转移中表达增加,并且原发性肿瘤中的 HOTAIR 表达水平是最终转移和死亡的有力预测指标。在上皮癌细胞中强制表达 HOTAIR 会诱导多梳抑制复合物 2(PRC2)在全基因组上重新靶向到更类似于胚胎成纤维细胞的占据模式,导致组蛋白 H3 赖氨酸 27 甲基化、基因表达的改变,并以依赖于 PRC2 的方式增加癌症侵袭性和转移。相反,HOTAIR 的缺失可以抑制癌症的侵袭性,特别是在具有过多 PRC2 活性的细胞中。这些发现表明 lincRNAs 在调节癌症表观基因组方面具有积极作用,可能是癌症诊断和治疗的重要靶点。