G-quadruplex nucleic acids and human disease.
G-quadruplex nucleic acids and human disease.
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DOI：
10.1111/j.1742-4658.2010.07760.x
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发表时间：
2010-09
期刊：
影响因子：
--
通讯作者：
Brosh RM Jr
中科院分区：
文献类型：
--
作者：
Wu Y;Brosh RM Jr
偏离B-型双链DNA的替代DNA结构，例如G-四链(G4)DNA，可以由广泛分布于整个人类基因组的序列形成。G-四链二级结构是由四个鸟嘌呤通过Hoogsteen氢键相互作用而形成的平面四元组堆积而成，它可以影响细胞DNA的复制和转录，并影响基因组的稳定性。富含G的染色体区域的独特代谢可能会影响许多生物学过程，包括免疫球蛋白基因重排、启动子激活和端粒维持。许多人类疾病都以端粒缺陷为特征，端粒末端形成的G-四链结构对端粒的稳定性起着重要的作用。来自细胞研究和模式生物的证据表明，G4DNA解旋酶已知缺陷的疾病很可能在端粒维持和细胞DNA复制方面受到干扰。在这篇简短的综述中，我们根据最近的文献讨论了G-四链核酸与人类遗传性疾病和癌症的联系。
Alternate DNA structures that deviate from B-form double-stranded DNA such as G-quadruplex (G4) DNA can be formed by sequences that are widely distributed throughout the human genome. G-quadruplex secondary structures, formed by the stacking of planar quartets composed of four guanines that interact by Hoogsteen hydrogen bonding, can affect cellular DNA replication and transcription, and influence genomic stability. The unique metabolism of G-rich chromosomal regions that potentially form quadruplexes may influence a number of biological processes including immunoglobulin gene rearrangements, promoter activation and telomere maintenance. A number of human diseases are characterized by telomere defects, and it is proposed that G-quadruplex structures which form at telomere ends play an important role in telomere stability. Evidence from cellular studies and model organisms suggests that diseases with known defects in G4 DNA helicases are likely to be perturbed in telomere maintenance and cellular DNA replication. In this minireview, we discuss the connections of G-quadruplex nucleic acids to human genetic diseases and cancer based on the recent literature.
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影响因子：
64.8
作者：
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DOI：
10.1073/pnas.92.11.5199
发表时间：
1995-05-23
影响因子：
11.1
作者：
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通讯作者：
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DOI：
10.1073/pnas.0609410104
发表时间：
2007-02-13
影响因子：
11.1
作者：
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