Scientists have pinpointed precise regions in the human genome where DNA is most likely to develop a mutation.

At spots where RNA polymerase 'opens' your DNA to read and copy instructions – known as transcription start sites – your genome is especially vulnerable to damage and the occasional imperfect repair that can lead to permanent changes. Scientists call these locations 'mutation hotspots', and they may be crucial for understanding genetic disease .

"These sequences are extremely prone to mutations and rank among the most functionally important regions in the entire human genome, together with protein-coding sequences," says geneticist Donate Weghorn of the Centre for Genomic Regulation in Spain.

Related: Humans Are Evolving in Front of Our Eyes on The Tibetan Plateau

Gen

See Full Page