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10.1038/s41467-018-03369-8

http://scihub22266oqcxt.onion/10.1038/s41467-018-03369-8
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C5852086!5852086!29540679
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suck abstract from ncbi


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pmid29540679      Nat+Commun 2018 ; 9 (ä): ä
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  • Circular DNA elements of chromosomal origin are common in healthy human somatic tissue #MMPMID29540679
  • Møller HD; Mohiyuddin M; Prada-Luengo I; Sailani MR; Halling JF; Plomgaard P; Maretty L; Hansen AJ; Snyder MP; Pilegaard H; Lam HYK; Regenberg B
  • Nat Commun 2018[]; 9 (ä): ä PMID29540679show ga
  • The human genome is generally organized into stable chromosomes, and only tumor cells are known to accumulate kilobase (kb)-sized extrachromosomal circular DNA elements (eccDNAs). However, it must be expected that kb eccDNAs exist in normal cells as a result of mutations. Here, we purify and sequence eccDNAs from muscle and blood samples from 16 healthy men, detecting ~100,000 unique eccDNA types from 16 million nuclei. Half of these structures carry genes or gene fragments and the majority are smaller than 25?kb. Transcription from eccDNAs suggests that eccDNAs reside in nuclei and recurrence of certain eccDNAs in several individuals implies DNA circularization hotspots. Gene-rich chromosomes contribute to more eccDNAs per megabase and the most transcribed protein-coding gene in muscle, TTN (titin), provides the most eccDNAs per gene. Thus, somatic genomes are rich in chromosome-derived eccDNAs that may influence phenotypes through altered gene copy numbers and transcription of full-length or truncated genes.
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