Mitchell J R, Cheng J, Collins K
Division of Biochemistry and Molecular Biology, Department of Molecular and Cell Biology, University of California at Berkeley, Berkeley, California 94720-3204, USA.
Mol Cell Biol. 1999 Jan;19(1):567-76. doi: 10.1128/MCB.19.1.567.
Simple sequence repeat telomeric DNA is maintained by a specialized reverse transcriptase, telomerase. The integral RNA subunit of telomerase contains a template region that determines the sequence added to chromosome ends. Aside from providing the template, little is known about the role of the telomerase RNA. In addition, no hypotheses have been suggested to account for the striking evolutionary divergence in size and sequence between telomerase RNAs of ciliates, yeasts, and mammals. We show that the two- to threefold increase in size of the mammalian telomerase RNAs relative to ciliate telomerase RNAs is due to the presence of an extra domain resembling a box H/ACA small nucleolar RNA (snoRNA). The human telomerase RNA (hTR) H/ACA domain is essential in vivo for hTR accumulation, hTR 3' end processing, and telomerase activity. By substituting the U64 box H/ACA snoRNA for the hTR H/ACA domain, we demonstrate that a heterologous snoRNA can function to promote chimeric RNA accumulation and 3' end processing but not telomerase activity. In addition, we show that maturation of full-length hTR and its assembly into active telomerase occur from an mRNA promoter-driven RNA polymerase II transcript but not from a U6 snRNA promoter-driven RNA polymerase III transcript. Finally, we show that a small percentage of hTR is associated with nucleoli. These results have implications for the biogenesis and structure of hTR and the human telomerase ribonucleoprotein complex. They also expand the structural and functional diversity of the box H/ACA snoRNA motif.
简单序列重复端粒DNA由一种特殊的逆转录酶——端粒酶维持。端粒酶的整合RNA亚基包含一个模板区域,该区域决定了添加到染色体末端的序列。除了提供模板外,关于端粒酶RNA的作用知之甚少。此外,尚未有人提出假说来解释纤毛虫、酵母和哺乳动物的端粒酶RNA在大小和序列上惊人的进化差异。我们发现,相对于纤毛虫的端粒酶RNA,哺乳动物端粒酶RNA的大小增加了两到三倍,这是由于存在一个类似于盒H/ACA小核仁RNA(snoRNA)的额外结构域。人端粒酶RNA(hTR)的H/ACA结构域在体内对于hTR的积累、hTR 3'端加工和端粒酶活性至关重要。通过用U64盒H/ACA snoRNA替代hTR的H/ACA结构域,我们证明异源snoRNA可以促进嵌合RNA的积累和3'端加工,但不能促进端粒酶活性。此外,我们表明全长hTR的成熟及其组装成活性端粒酶是由mRNA启动子驱动的RNA聚合酶II转录本产生的,而不是由U6 snRNA启动子驱动的RNA聚合酶III转录本产生的。最后,我们发现一小部分hTR与核仁相关。这些结果对hTR和人端粒酶核糖核蛋白复合物的生物发生和结构具有重要意义。它们还扩展了盒H/ACA snoRNA基序的结构和功能多样性。