Data from: Genomic DNA transposition induced by human PGBD5

Transposons are mobile genetic elements that are found in nearly all organisms, including humans. Mobilization of DNA transposons by transposase enzymes can cause genomic rearrangements, but our knowledge of human genes derived from transposases is limited. In this study, we find that the protein encoded by human PGBD5, the most evolutionarily conserved transposable element-derived gene in vertebrates, can induce stereotypical cut-and-paste DNA transposition in human cells. Genomic integration activity of PGBD5 requires distinct aspartic acid residues in its transposase domain, and specific DNA sequences containing inverted terminal repeats with similarity to piggyBac transposons. DNA transposition catalyzed by PGBD5 in human cells occurs genome-wide, with precise transposon excision and preference for insertion at TTAA sites. The apparent conservation of DNA transposition activity by PGBD5 suggests that genomic remodeling contributes to its biological function.

转座子（Transposons）是一类几乎存在于所有生物（包括人类）中的可移动遗传元件。转座酶（transposase）介导的DNA转座子转座活动可引发基因组重排，但目前学界对源自转座酶的人类基因的认知仍较为有限。本研究发现，脊椎动物中进化保守性最高的转座元件衍生基因——人类PGBD5所编码的蛋白质，可在人类细胞中诱导典型的剪切-粘贴型DNA转座反应。PGBD5的基因组整合活性，需要其转座酶结构域内特定的天冬氨酸残基，以及一类与piggyBac转座子（piggyBac transposons）具有相似性、携带反向末端重复序列的特异性DNA序列。由PGBD5催化的人类细胞内DNA转座反应可在全基因组范围内发生，转座子剪切精准，且偏好插入TTAA位点。PGBD5所具有的DNA转座活性的显著保守性，提示基因组重塑是其生物学功能的重要组成部分。