Apr 6, 2016

Expression of progerin does not result in an increased mutation rate.

BioRxiv : the Preprint Server for Biology
Emmanuelle DeniaudWendy Bickmore


In the premature ageing disease Hutchinson-Gilford progeria syndrome (HGPS) the underlying genetic defect in the lamin A gene leads to accumulation at the nuclear lamina of progeria, a mutant form of lamin A that cannot be correctly processed. This has been reported to result in defects in the DNA damage response and in DNA repair, leading to the hypothesis that, as in normal ageing and in other progeroid syndromes caused by mutation of genes of the DNA repair and DNA damage response pathways, increased DNA damage may be responsible for the premature ageing phenotypes in HGPS patients. However, this hypothesis is based upon the study of markers of the DNA damage response, rather than measurement of DNA damage per se or the consequences of unrepaired DNA damage - mutation. Here, using a mutation reporter cell line, we directly compared the inherent and induced mutation rates in cells expressing wild-type lamin A or progerin. We find no evidence for an elevated mutation rate in progerin-expressing cells. We conclude that the cellular defect in HGPS cells does not lie in the repair of DNA damage per se.

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Mentioned in this Paper

Biological Markers
Biochemical Pathway
Cockayne Syndrome
ROBO3 gene
DNA Repair
Nuclear Lamina
ZMPSTE24 gene
Response to DNA Damage Stimulus

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