Somatic mosaicism for copy number variation in differentiated human tissues

ABSTRACT: Genetic variation is responsible for the generation of phenotypic diversity, including susceptibility to disease. Two major types of variation are known: single nucleotide polymorphisms (SNPs) and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. Variation caused by CNVs has exceeded the amount of SNP-based differences expected to exist between two unrelated humans. Furthermore, many CNVs have been associated with disease predisposition. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. Here we show that CNVs are frequent in healthy somatic cells of adult humans. We tested 34 tissue samples from three subjects and, h

ORGANISM(S): Homo sapiens

SUBMITTER: Carl Bruder 

PROVIDER: E-GEOD-9598 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress