Scientists have uncovered that 'gene misbehavior' – where genes are active when they were expected to be switched off – is a surprisingly common phenomenon in the healthy human population. The team also identify several mechanisms behind these gene activity errors. This may help inform precision medicine approaches and enable the development of targeted therapies to correct expression.
Researchers from the Wellcome Sanger Institute, the University of Cambridge and AstraZeneca studied the activity of inactive genes in a large, healthy population for the first time. While rare at the individual gene level, they revealed misexpression is widespread across samples and involved more than half of the genes that should be inactive. The findings, published today (24 July) in the American Journal of Human Genetics , shed new light on how our genetic code operates.
The approach could be used in future research to investigate various complex diseases. The human genome contains about 19,900 genes. These genes form part of the instruction manual for our bodies, encoding proteins needed to carry out cell functions.
Proper gene regulation involves turning these gene instructions on and off as needed, depending on a cell's specific role or environmental factors. When this regulation fails and a typically inactive gene is activated, or 'expressed', it can disrupt normal cell function. While gene misexpression has previously been linked to several rare diseases, such as congenital limb syn.