DNA study could shed light on how genetic faults trigger disease

DNA double helix. Credit: public domain

A new technique that identifies how genes are controlled could help scientists spot errors in the genetic code which trigger disease, a study suggests.

The method focusses on those parts of DNA - known as enhancer regions - which regulate the activity of genes and direct the production of proteins that have key functions within the body.

Errors in protein production can result in a wide range of diseases in people, researchers say.

The new method could help researchers pinpoint the source of disease-causing mutations in . Until now, these have been difficult to interpret as the link between enhancers and the genes they control was not clear.

Researchers at the University of Edinburgh were part of an international collaboration that identified all the enhancers - and the genes they activate - on a single human chromosome.

The team then tested the technique in zebrafish and found that genes are controlled by enhancers in a similar way, suggesting that this type of regulation takes place in all animals.

Individual genes may be under the control of many enhancers, which allow gene activation to be carefully regulated, the team says. This allows precise control of gene activity, which is important during development and in maintaining normal brain function.

The study, published in the journal Nature Communications, was funded by the Seventh Framework Programme of the European Union. The study was carried in close collaboration with researchers based in other parts of the UK, France, Germany, Australia, and Norway.

Professor David FitzPatrick, of the University of Edinburgh's MRC Human Genetics Unit, who took part in the study, said: "This work is an important step in identifying which enhancers control which , and this will help us in interpreting the genetic changes we see in the part of the genome that does not code for protein."

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Journal information: Nature Communications

Citation: DNA study could shed light on how genetic faults trigger disease (2015, April 24) retrieved 24 August 2019 from https://medicalxpress.com/news/2015-04-dna-genetic-faults-trigger-disease.html
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Apr 25, 2015
http://www.nature...904.html Journal article excerpt:

"Experimental methods are already able to indicate the interactions between enhancers and genes8, 13, 17, 18, 19 but they are strongly constrained by the tissue and time where and when the interaction takes place. In contrast, evolutionary linkage is independent of the tissue or time of expression of the gene, and is applicable to any sequenced vertebrate genome, as it was done here for human."

Experimental evidence of nutrient-dependent RNA-mediated amino acid substitutions can now be compared to evolutionary linkages that are based on theories about mutations and natural selection. The ridiculous theories have ignored the biophysically constrained chemistry of nutrient-dependent protein biosynthesis and degradation that links metabolic networks and genetic networks via gene expression to differentiation of cell types in different tissues.

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