Rogers Scott O, Bendich Arnold J
Department of Biological Sciences, Bowling Green State University, Bowling Green, OH, 43403, USA.
Department of Biology, University of Washington, Seattle, WA, 98195, USA.
Naturwissenschaften. 2025 Jan 30;112(1):14. doi: 10.1007/s00114-025-01966-4.
Four main classes of introns (group I, group II, spliceosomal, and archaeal) have been reported for all major types of RNA from nuclei and organelles of a wide range of taxa. When and how introns inserted within the genic regions of genomes, however, is often unclear. Introns were examined from Archaea, Bacteria, and Eukarya. Up to 80 bp surrounding each of the 5' and 3' intron/exon borders were compared to search for direct repeats (DRs). For each of the 213 introns examined, DNA sequence analysis revealed DRs at or near the intron/exon borders, ranging from 4 to 30 bp in length, with a mean of 11.4 bp. More than 80% of the repeats were within 10 bp of the intron/exon borders. The numbers of DRs 6-30 bp in length were greater than expected by chance. When a DNA segment moves into a new genomic location, the insertion involves a double-strand DNA break that must be repaired to maintain genome stability and often results in a pair of DRs that now flank the insert. This insertion process applies to both mobile genetic elements (MGEs), such as transposons, and to introns as reported here. The DNA break at the insertion site may be caused by transposon-like events or recombination. Thus, introns and transposons appear to be members of a group of parasitic MGEs that secondarily may benefit their host cell and have expanded greatly in eukaryotes from their prokaryotic ancestors.
据报道,在广泛分类群的细胞核和细胞器的所有主要类型的RNA中,存在四种主要类型的内含子(I类、II类、剪接体和古菌内含子)。然而,内含子何时以及如何插入基因组的基因区域往往并不清楚。对古菌、细菌和真核生物的内含子进行了研究。比较了每个5'和3'内含子/外显子边界周围多达80bp的序列,以寻找直接重复序列(DRs)。对于所研究的213个内含子中的每一个,DNA序列分析揭示在内含子/外显子边界处或附近存在DRs,长度从4到30bp不等,平均为11.4bp。超过80%的重复序列位于内含子/外显子边界的10bp范围内。长度为6 - 30bp的DRs数量比随机预期的要多。当一个DNA片段移动到一个新的基因组位置时,插入涉及到一个双链DNA断裂,必须进行修复以维持基因组稳定性,并且通常会导致一对现在位于插入片段两侧的DRs。这种插入过程既适用于转座子等可移动遗传元件(MGEs),也适用于本文报道的内含子。插入位点的DNA断裂可能是由类似转座子的事件或重组引起的。因此,内含子和转座子似乎是一类寄生性MGEs的成员,它们可能会对宿主细胞产生次级益处,并且从其原核祖先开始在真核生物中大量扩增。