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Transposable elements in human genetic disease.
Nature Reviews Genetics ( IF 42.7 ) Pub Date : 2019-09-12 , DOI: 10.1038/s41576-019-0165-8 Lindsay M Payer 1 , Kathleen H Burns 1, 2
Nature Reviews Genetics ( IF 42.7 ) Pub Date : 2019-09-12 , DOI: 10.1038/s41576-019-0165-8 Lindsay M Payer 1 , Kathleen H Burns 1, 2
Affiliation
Transposable elements are abundant in the human genome, and great strides have been made in pinpointing variations in these repetitive sequences using whole-genome sequencing. Now, the focus is shifting to understanding their expression and regulation, and the functional consequences of their insertion and retention in the genome over time. Whereas transposable element insertions have been known to cause human genetic disease since the 1980s, the scope of their contributions to heritable phenotypes is now starting to be uncovered. Here, we review the many ways human retrotransposons contribute to genome function, their dysregulation in diseases including cancer and how they affect genetic disease.
中文翻译:
人类遗传病中的转座因子。
转座子元件在人类基因组中非常丰富,并且在使用全基因组测序精确定位这些重复序列的变异方面取得了长足的进步。现在,重点正在转移到了解它们的表达和调控,以及它们随着时间的推移在基因组中插入和保留的功能后果。尽管自 1980 年代以来已知转座因子插入会导致人类遗传疾病,但它们对可遗传表型的贡献范围现在开始被揭示。在这里,我们回顾了人类反转录转座子对基因组功能的多种方式,它们在包括癌症在内的疾病中的失调以及它们如何影响遗传疾病。
更新日期:2019-09-13
中文翻译:
人类遗传病中的转座因子。
转座子元件在人类基因组中非常丰富,并且在使用全基因组测序精确定位这些重复序列的变异方面取得了长足的进步。现在,重点正在转移到了解它们的表达和调控,以及它们随着时间的推移在基因组中插入和保留的功能后果。尽管自 1980 年代以来已知转座因子插入会导致人类遗传疾病,但它们对可遗传表型的贡献范围现在开始被揭示。在这里,我们回顾了人类反转录转座子对基因组功能的多种方式,它们在包括癌症在内的疾病中的失调以及它们如何影响遗传疾病。