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端粒酶数据库。

The telomerase database.

作者信息

Podlevsky Joshua D, Bley Christopher J, Omana Rebecca V, Qi Xiaodong, Chen Julian J-L

机构信息

School of Life Sciences and Department of Chemistry and Biochemistry, Arizona State University, Tempe, AZ 85287, USA.

出版信息

Nucleic Acids Res. 2008 Jan;36(Database issue):D339-43. doi: 10.1093/nar/gkm700. Epub 2007 Dec 11.

DOI:10.1093/nar/gkm700
PMID:18073191
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2238860/
Abstract

Telomerase is a ribonucleoprotein enzyme that extends DNA at the chromosome ends in most eukaryotes. Since 1985, telomerase has been studied intensively and components of the telomerase complex have been identified from over 160 eukaryotic species. In the last two decades, there has been a growing interest in studying telomerase owing to its vital role in chromosome stability and cellular immortality. To keep up with the remarkable explosion of knowledge about telomerase, we compiled information related to telomerase in an exhaustive database called the Telomerase Database (http://telomerase.asu.edu/). The Telomerase Database provides comprehensive information about (i) sequences of the RNA and protein subunits of telomerase, (ii) sequence alignments based on the phylogenetic relationship and structure, (iii) secondary structures of the RNA component and tertiary structures of various subunits of telomerase, (iv) mutations of telomerase components found in human patients and (v) active researchers who contributed to the wealth of current knowledge on telomerase. The information is hierarchically organized by the components, i.e. the telomerase reverse transcriptase (TERT), telomerase RNA (TR) and other telomerase-associated proteins. The Telomerase Database is a useful resource especially for researchers who are interested in investigating the structure, function, evolution and medical relevance of the telomerase enzyme.

摘要

端粒酶是一种核糖核蛋白酶,在大多数真核生物中可延长染色体末端的DNA。自1985年以来,人们对端粒酶进行了深入研究,并且已经从160多种真核生物中鉴定出了端粒酶复合体的组成成分。在过去的二十年里,由于端粒酶在染色体稳定性和细胞永生中起着至关重要的作用,人们对其研究的兴趣与日俱增。为了跟上有关端粒酶知识的惊人增长,我们在一个名为端粒酶数据库(http://telomerase.asu.edu/)的详尽数据库中汇编了与端粒酶相关的信息。端粒酶数据库提供了以下全面信息:(i)端粒酶RNA和蛋白质亚基的序列;(ii)基于系统发育关系和结构的序列比对;(iii)端粒酶RNA成分的二级结构和各种亚基的三级结构;(iv)在人类患者中发现的端粒酶成分突变;以及(v)为当前丰富的端粒酶知识做出贡献的活跃研究人员。这些信息按成分进行分层组织,即端粒酶逆转录酶(TERT)、端粒酶RNA(TR)和其他与端粒酶相关的蛋白质。端粒酶数据库是一个有用的资源,尤其对于那些有兴趣研究端粒酶的结构、功能、进化及其医学相关性的研究人员来说。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef9d/2238860/f803834d7445/gkm700f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef9d/2238860/f803834d7445/gkm700f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef9d/2238860/f803834d7445/gkm700f1.jpg

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本文引用的文献

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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.常染色体隐性遗传性先天性角化不良中的遗传异质性,其中一种亚型由端粒酶相关蛋白NOP10突变引起。
Hum Mol Genet. 2007 Jul 1;16(13):1619-29. doi: 10.1093/hmg/ddm111. Epub 2007 May 16.
2
Adult-onset pulmonary fibrosis caused by mutations in telomerase.由端粒酶突变引起的成人期肺纤维化
Proc Natl Acad Sci U S A. 2007 May 1;104(18):7552-7. doi: 10.1073/pnas.0701009104. Epub 2007 Apr 25.
3
Telomerase mutations in families with idiopathic pulmonary fibrosis.
T细胞中的端粒酶活性作为端粒生物学障碍中新型基因变异致病性评估的功能测试。
Sci Rep. 2025 Aug 8;15(1):29048. doi: 10.1038/s41598-025-12566-7.
4
Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.端粒生物学障碍中的种系PARN变异及变异整理面临的挑战
Mol Genet Genomic Med. 2025 Jun;13(6):e70107. doi: 10.1002/mgg3.70107.
5
Biogenesis and Regulation of Telomerase during Development and Cancer.发育与癌症过程中端粒酶的生物发生及调控
Cold Spring Harb Perspect Biol. 2025 Apr 10. doi: 10.1101/cshperspect.a041692.
6
A degenerate telomerase RNA directs telomeric DNA synthesis in lepidopteran insects.一种简并的端粒酶RNA指导鳞翅目昆虫的端粒DNA合成。
Proc Natl Acad Sci U S A. 2025 Mar 4;122(9):e2424443122. doi: 10.1073/pnas.2424443122. Epub 2025 Feb 28.
7
The telomere-to-telomere genome of flowering cherry (Prunus campanulata) reveals genomic evolution of the subgenus Cerasus.钟花樱桃(Prunus campanulata)的端粒到端粒基因组揭示了樱亚属(Cerasus)的基因组进化。
Gigascience. 2025 Jan 6;14. doi: 10.1093/gigascience/giaf009.
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Small but Mitey: A Gapless Telomere-to-Telomere Assembly of an Unidentified Mite With a Streamlined Genome.虽小却强大:具有简化基因组的未知螨虫的无缝端粒到端粒组装
Genome Biol Evol. 2025 Feb 3;17(2). doi: 10.1093/gbe/evaf023.
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tidk: a toolkit to rapidly identify telomeric repeats from genomic datasets.TIDK:一种从基因组数据集中快速识别端粒重复序列的工具包。
Bioinformatics. 2025 Feb 4;41(2). doi: 10.1093/bioinformatics/btaf049.
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bioRxiv. 2024 Oct 15:2024.10.12.618037. doi: 10.1101/2024.10.12.618037.
特发性肺纤维化家族中的端粒酶突变
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4
Structural study of elements of Tetrahymena telomerase RNA stem-loop IV domain important for function.对四膜虫端粒酶RNA茎环IV结构域中对功能重要的元件的结构研究。
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Structure of stem-loop IV of Tetrahymena telomerase RNA.嗜热四膜虫端粒酶RNA茎环IV的结构
EMBO J. 2006 Jul 12;25(13):3156-66. doi: 10.1038/sj.emboj.7601195. Epub 2006 Jun 15.
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Crystal structure of the essential N-terminal domain of telomerase reverse transcriptase.端粒酶逆转录酶必需的N端结构域的晶体结构
Nat Struct Mol Biol. 2006 Mar;13(3):218-25. doi: 10.1038/nsmb1054. Epub 2006 Feb 5.
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Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.端粒酶逆转录酶单倍剂量不足导致常染色体显性遗传性先天性角化不良的遗传早现。
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N Engl J Med. 2005 Apr 7;352(14):1413-24. doi: 10.1056/NEJMoa042980.
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Structure of the human telomerase RNA pseudoknot reveals conserved tertiary interactions essential for function.人类端粒酶RNA假结结构揭示了对功能至关重要的保守三级相互作用。
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