Skin cells reveal DNA’s genetic mosaic

The prevailing wisdom has been that every cell in the body contains identical DNA. However, a new study of stem cells derived from the skin has found that genetic variations are widespread in the body's tissues, a finding with profound implications for genetic screening, according to Yale School of Medicine researchers.

The study paves the way for assessing the extent of gene variation, and for better understanding human development and disease.

''We found that humans are made up of a mosaic of cells with different genomes,'' says lead author Dr. Flora Vaccarino, the Harris Professor of Child Psychiatry at the Yale Child Study Center. ''We saw that 30 per cent of skin cells harbour copy number variations (CNV), which are segments of DNA that are deleted or duplicated. Previously it was assumed that these variations only occurred in cases of disease, such as cancer. The mosaic that we've seen in the skin could also be found in the blood, in the brain, and in other parts of the human body.''

The longstanding belief has been that our cells have the same DNA sequence and this blueprint governs the body's functions. The Yale team's research challenges this dogma. Some scientists have hypothesised that during development, when DNA is copied from mother to daughter cells, there could be deletions, duplications and changes in the sequence of the DNA, and an entire group of genes could be affected.

This premise has been incredibly difficult to test, but Vaccarino and colleagues have done so in this new study.

The team used whole genome sequencing to study induced pluripotent stem cells lines (iPS), which are stem cells developed from a mature-differentiated cell. The team grew cells taken from the inner upper arms of two families. The team spent two years characterizing these iPS cell lines and comparing them to the original skin cells.