Similarities and differences between exome sequences found in a variety of tissues from the same individual

PLoS One. 2014 Jul 1;9(7):e101412. doi: 10.1371/journal.pone.0101412. eCollection 2014.

Abstract

DNA is the most stable nucleic acid and most important store of genetic information. DNA sequences are conserved in virtually all the cells of a multicellular organism. To analyze the sequences of various individuals with distinct pathological disorders, DNA is routinely isolated from blood, independently of the tissue that is the target of the disease. This approach has proven useful for the identification of familial diseases where mutations are present in parental germinal cells. With the capacity to compare DNA sequences from distinct tissues or cells, present technology can be used to study whether DNA sequences in tissues are invariant. Here we explored the presence of specific SNVs (Single Nucleotide Variations) in various tissues of the same individual. We tested for the presence of tissue-specific exonic SNVs, taking blood exome as a control. We analyzed the chromosomal location of these SNVs. The number of SNVs per chromosome was found not to depend on chromosome length, but mainly on the number of protein-coding genes per chromosome. Although similar but not identical patterns of chromosomal distribution of tissue-specific SNVs were found, clear differences were detected. This observation supports the notion that each tissue has a specific SNV exome signature.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human / genetics*
  • Exome*
  • Female
  • Genetic Variation*
  • Humans
  • Male
  • Organ Specificity

Grants and funding

This study was supported by the grants of BBVA Foundation and MICINN-MINECO. The authors would also like to acknowledge the help of Reina Sofia Foundation, the CIEN Foundation, CIBERNED (ISCIII), and grants BFU2008-3980 (ES) and SAF2011-24841 (JA) from MICINNN-MINECO. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.