Extrachromosomal microDNAs and chromosomal microdeletions in normal tissues

Yoshiyuki Shibata, Pankaj Kumar, Ryan Layer, Smaranda Willcox, Jeffrey R. Gagan, Jack D. Griffith, Anindya Dutta

Research output: Contribution to journalArticlepeer-review

166 Scopus citations


We have identified tens of thousands of short extrachromosomal circular DNAs (microDNA) in mouse tissues as well as mouse and human cell lines. These microDNAs are 200 to 400 base pairs long, are derived from unique nonrepetitive sequence, and are enriched in the 5′-untranslated regions of genes, exons, and CpG islands. Chromosomal loci that are enriched sources of microDNA in the adult brain are somatically mosaic for microdeletions that appear to arise from the excision of microDNAs. Germline microdeletions identified by the "Thousand Genomes" project may also arise from the excision of microDNAs in the germline lineage.We have thus identified a previously unknown DNA entity in mammalian cells and provide evidence that their generation leaves behind deletions in different genomic loci.

Original languageEnglish (US)
Pages (from-to)82-86
Number of pages5
Issue number6077
StatePublished - Apr 6 2012
Externally publishedYes

ASJC Scopus subject areas

  • General


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