McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Broadway Research Building, Room 412, 733 N, Broadway, Baltimore, MD 21205, USA.
Genome Med. 2012 Feb 24;4(2):12. doi: 10.1186/gm311.
Perhaps as much as two-thirds of the mammalian genome is composed of mobile genetic elements ('jumping genes'), a fraction of which is still active or can be reactivated. By their sheer number and mobility, retrotransposons, DNA transposons and endogenous retroviruses have shaped our genotype and phenotype both on an evolutionary scale and on an individual level. Notably, at least the non-long terminal repeat retrotransposons are still able to cause disease by insertional mutagenesis, recombination, providing enzymatic activities for other mobile DNA, and perhaps by transcriptional overactivation and epigenetic effects. Currently, there are nearly 100 examples of known retroelement insertions that cause disease. In this review, we highlight those genome-scale technologies that have expanded our knowledge of the diseases that these mobile elements can elicit, and we discuss the potential impact of these findings for medicine. It is now likely that at least some types of cancer and neurological disorders arise as a result of retrotransposon mutagenesis.
也许哺乳动物基因组的三分之二以上由移动遗传元件（“跳跃基因”）组成，其中一部分仍然活跃或可以重新激活。转座子、DNA 转座子和内源性逆转录病毒的数量和移动性极大地影响了我们的基因型和表型，无论是在进化层面还是个体层面。值得注意的是，至少非长末端重复逆转录转座子仍然能够通过插入诱变、重组、为其他移动 DNA 提供酶活性，以及转录过激活和表观遗传效应引起疾病。目前，已知有近 100 个导致疾病的逆转录元件插入的例子。在这篇综述中，我们强调了那些扩展了我们对这些移动元件引起的疾病的认识的基因组规模技术，并讨论了这些发现对医学的潜在影响。现在很可能至少某些类型的癌症和神经紊乱是逆转录转座子突变的结果。
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