Inversions in the Human Genome are more common than previously thought

Inversions in the Human Genome are more common than previously thought ...

Our DNA acts as a blueprint for the cellular machinery that allows cells, organs, and whole organisms to function. These mutations in the DNA may result in genetic diseases. Such genetic variation may include point mutations at a single site, as well as deletions, duplications, and inversions.

Inversions are poorly understood because they are more difficult to measure than other types of mutations. Researchers at EMBL Heidelberg, in collaboration with researchers at the University of Washington, USA, and Heinrich Heine University Dusseldorf, Germany, have now demonstrated that inversions are one of the most common mutational processes in humans.

The researchers investigated how inversions are formed and investigated in detail a set of 40 inversions that form recurrently in the genome, where the DNA sequence flips back and forth. These flip-flopping inversions usually originate in areas linked to the development of certain human diseases called genomic disorders.

Inversions form at a much higher rate than previously assumed. In humans, at least 0.6% of the genome repeatedly changes direction, making inversion one of the fastest mutational processes in humans, according to Jan Korbel, an EMBL senior scientist and head of data science. At these sites, the genome is not stable, and the direction of the DNA code continues to shift back and forth.

When scientists examine aspects such as long-distance gene regulation or epigenetics, these are important human genes. These are therefore crucial to scientists.

Inversions are also useful in the development of human illnesses, such as developmental delays in children or neuropsychiatric disorders in adults. Despite their potentiality, these regions have been difficult to pursue before due to their complexity. According to Tobias Marschall, the director of the Institute of Medical Biometry and Bioinformatics and the Heinrich Heine University Dusseldorf, we can now provide human geneticists with a fresh approach to understanding the origin of disease.

We demonstrated for the first time that rare genomic rearrangements found in paediatric autism, developmental delay, and epilepsy are associated with inversions. Now, we believe that certain configurations at the edge of the inversions may predispose or protect individuals and their offspring from disease-associated rearrangements. This could be used in the clinic, where it may be used to identify families at danger for developing these disorders.

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