Extensive genetic variation in somatic human tissues

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 immu...

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Published inProceedings of the National Academy of Sciences - PNAS Vol. 109; no. 44; pp. 18018 - 18023
Main Authors O'Huallachain, Maeve, Karczewski, Konrad J., Weissman, Sherman M., Urban, Alexander Eckehart, Snyder, Michael P.
Format Journal Article
LanguageEnglish
Published United States National Academy of Sciences 30.10.2012
National Acad Sciences
Subjects
Biological Sciences
Biological variation
Blood cells
Cells
Chromosomes
clonal variation
Comparative analysis
Comparative Genomic Hybridization
DNA
etiology
Gene Dosage
Genes
genetic disorders
Genetic diversity
Genetic Variation
Genomics
germ cells
Humans
Immune system
Induced pluripotent stem cells
Liver
neoplasms
nucleic acid hybridization
Pancreas
phenotypic variation
Phenotypic variations
Somatic cells
therapeutics
Tissues
zygote
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Summary: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.
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Author contributions: M.O., S.M.W., A.E.U., and M.P.S. designed research; M.O. performed research; A.E.U. contributed new reagents/analytic tools; M.O. and K.J.K. analyzed data; and M.O., S.M.W., A.E.U., and M.P.S. wrote the paper.
Contributed by Sherman M. Weissman, August 15, 2012 (sent for review June 22, 2012)
ISSN:0027-8424
1091-6490
1091-6490
DOI:10.1073/pnas.1213736109