Gene atlas promises future neurological breakthroughs

Posted Feb 4 2013 in Brain science; genetics

Research conducted into epilepsy and other neurological disorders in years to come is likely to benefit from a pioneering new ‘atlas’ of gene enhancers situated in the cerebrum, the largest part of the brain.

Mapping out the thousands of gene-regulating elements in this region of the brain, the collection of data was put together by US researchers at the Lawrence Berkeley National Laboratory and is publicly accessible via the internet.

The cerebrum plays a major role in functions such as cognition and emotion and manages motor response. However, it also plays a major role in the development of epilepsy.

Axel Visel, a geneticist with the genomic division at Berkeley Lab, said that understanding how the brain develops and functions, as well as what exactly goes wrong when it malfunctions, remains one of the biggest challenges of science today.

“We’ve created a genome-wide digital atlas of gene enhancers in the human brain – the switches that tell genes when and where they need to be switched on or off,” he said.

“This enhancer atlas will enable other scientists to study in more detail how individual genes are regulated during development of the brain and how genetic mutations may impact human neurological disorders.”

The research, details of which are published by Dr Visel in the journal Cell, reveals the DNA elements that are responsible for expressing genes in the cerebrum, the process by which they are turned on or off. These genes, once activated, can play a significant role in the way that functions in the brain’s ‘gray matter’ are carried out.

Among the most notable mapping work undertaken by the team was the recording of sequences of DNA that are used to amplify the expressions of genes. These ‘gene enhancers’ are difficult to locate because they are not always located next to the gene they modify.

Dr Visel explained: “In addition to acting over long distances and being located upstream, downstream or in introns of protein-coding genes, the sequence features of gene enhancers are poorly understood.”

This is despite the fact that previous research has suggested they are crucial in the normal development of the brain and are linked to several neurological conditions.

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