Extensive genetic variation in somatic human tissues

Proc Natl Acad Sci U S A. 2012 Oct 30;109(44):18018-23. doi: 10.1073/pnas.1213736109. Epub 2012 Oct 5.


Genetic variation between individuals has been extensively investigated, but differences between tissues within individuals are far less understood. It is commonly assumed that all healthy cells that arise from the same zygote possess the same genomic content, with a few known exceptions in the immune system and germ line. However, a growing body of evidence shows that genomic variation exists between differentiated tissues. We investigated the scope of somatic genomic variation between tissues within humans. Analysis of copy number variation by high-resolution array-comparative genomic hybridization in diverse tissues from six unrelated subjects reveals a significant number of intraindividual genomic changes between tissues. Many (79%) of these events affect genes. Our results have important consequences for understanding normal genetic and phenotypic variation within individuals, and they have significant implications for both the etiology of genetic diseases such as cancer and for immortalized cell lines that might be used in research and therapeutics.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Comparative Genomic Hybridization
  • Gene Dosage
  • Genetic Variation*
  • Humans

Associated data

  • GEO/GSE40159