4.8 Article

MITE infestation accommodated by genome editing in the germline genome of the ciliate Blepharisma

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NATL ACAD SCIENCES
DOI: 10.1073/pnas.2213985120

Keywords

DNA elimination; mobile element; selfish gene; micronucleus; macronucleus

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During sexual conjugation, ciliates eliminate internal sequences from the germline genome to produce the functional somatic genome. We assembled 40,000 Internal Eliminated Sequences (IESs) of Blepharisma stoltei to gain insight into IESs and ciliate genome editing. Contrary to expectations, the germline genome of Blepharisma contains few transposases but instead has a high abundance of a Miniature Inverted-repeat Transposable Element (MITE) derived from a Pogo-family transposon.
During their development following sexual conjugation, ciliates excise numerous internal eliminated sequences (IESs) from a copy of the germline genome to produce the functional somatic genome. Most IESs are thought to have originated from transposons, but the presumed homology is often obscured by sequence decay. To obtain more representative perspectives on the nature of IESs and ciliate genome editing, we assembled 40,000 IESs of Blepharisma stoltei, a species belonging to a lineage (Heterotrichea) that diverged early from those of the intensively studied model ciliate species. About a quarter of IESs were short (<115 bp), largely nonrepetitive, and with a pronounced similar to 10 bp periodicity in length; the remainder were longer (up to 7 kbp) and nonperiodic and contained abundant interspersed repeats. Contrary to the expectation from current models, the assembled Blepharisma germline genome encodes few transposases. Instead, its most abundant repeat (8,000 copies) is a Miniature Inverted-repeat Transposable Element (MITE), apparently a deletion derivative of a germline-limited Pogo-family transposon. We hypothesize that MITEs are an important source of IESs whose proliferation is eventually self-limiting and that rather than defending the germline genomes against mobile elements, transposase domestication actually facilitates the accumulation of junk DNA.

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