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ノーベル化学賞の吉野さん 理事長務める大阪の研究施設に出勤

ノーベル化学賞に選ばれた吉野彰さんが、受賞決定後初めて、自身が理事長を務める大阪府内のリチウムイオン電池の研究施設に出勤し、研究への変わらぬ意欲を示しました。

  1. [医学] ICU患者への控えめな酸素供給...
  2. 移植不適格な新規診断多発性骨髄腫へのD-...
  3. 移植不適格な新規診断多発性骨髄腫に対して...
  4. 「イクメン企業アワード2019」・「イク...

ニュース一覧

Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same chromosome or the other homologue, constituting ~2% of nonrecurrent copy-number gains. Little is known about the molecular mechanisms of their formation. We identified 16 individuals with complex insertions among 56,000 individuals tested at Baylor Genetics using clinical array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH). Custom high-density aCGH was performed on 10 individuals with available DNA, and breakpoint junctions were fine-mapped at nucleotide resolution by long-range PCR and DNA sequencing in 6 individuals to glean insights into potential mechanisms of formation. We observed microhomologies and templated insertions at the breakpoint junctions, resembling the breakpoint junction signatures found in complex genomic rearrangements generated by replication-based mechanism(s) with iterative template switches. In addition, we analyzed 5 families with apparently balanced insertion in one parent detected by FISH analysis and found that 3 parents had additional small copy-number variants (CNVs) at one or both sides of the inserting fragments as well as at the inserted sites. We propose that replicative repair can result in interchromosomal complex insertions generated through chromothripsis-like chromoanasynthesis involving two or three chromosomes, and cause a significant fraction of apparently balanced insertions harboring small flanking CNVs.
PMID: 27880765 [PubMed - in process]
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