12 May 2022

Shifters in chromosomes

Inversions in the human genome are more common than previously thought

Tatiana Matveeva, "Scientific Russia"

Researchers from the USA and Germany have found that inversions in the genome are one of the most common mutational processes in humans, reports European Molecular Biology Laboratory. The results of the work are published in the journal Cell (Porubsky et al., Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders). 

Our DNA is a blueprint for the cellular mechanism that allows cells, organs, and the entire body to function. Mutations in DNA – including inversions – can lead to genetic diseases.


Inversion in genetics means that a section inside the chromosome turns 180 degrees – the genes change their location. In this study, the researchers found 729 inversions in 41 human genomes and identified 40 inversions that are periodically repeated. These inversions are usually found in areas associated with the development of certain human diseases. 

As a result, scientists have found that inversions are formed in humans with more frequency than previously thought: at least 0.6% of the genome is constantly changing direction. This makes inversion one of the fastest mutational processes in humans, the authors note and add that the genome is unstable in these areas: the direction of the DNA section continues to change back and forth.

Many important genes lie in these unstable regions. "We have shown for the first time that inversions can be associated with rare genomic rearrangements that occur in childhood autism, developmental delay and epilepsy. Now the question is: why? We assume that certain configurations on the flanks of inversions either predispose or protect individuals and their descendants from disease-related rearrangements. This [discovery] may have practical applications: it is possible to identify families at risk of developing these disorders," says Evan Eichler from the University of Washington. 

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