Scientists at the Berkeley Lab in their first major breakthrough made possible to get the close view of how a brain develops as well as functions. The scientists would also be able to find out which part of brain is an absentee during the neurological disorders such as epilepsy, autism and schizophrenia. In their major breakthrough, the scientists created the first of its kind genome-wide digital atlas of gene enhancers that are found in the brain.
Genomes, as described by the scientists are the switches which help a gene in getting information about when and where they should be switched on or off. The world’s first atlas of this kind documents the cerebrum, motor functions as well as emotion identifies and also find out various gene-regulating elements that form the basic causes of neurological disorders.
A geneticist with Berkeley Lab’s genomics division, Axel Visel described that the most challenging tasks of the contemporary science is to understand the functioning or malfunctioning of the brain. Therefore, they created the digital atlas of gene enhancers in the human brain. This atlas enabled the scientists to get a detailed study about how the individual genes can be regulated during the development of a brain and also how the genetic mutations can create an impact on the human neurological disorders.
The gene enhancers in reality are the short pieces of DNA in human genome, rather than the actual genes. Therefore these enhancers do not give rise to the proteins. Actually, they are the switches which are used to inform actual genes when they should become active and create a protein. Every cell type of human body composes of different sets of enhancers which are switched on or off. Together, these can help in coordination of activities of 20000 genes in every single cell.
The cerebrum is the most highly developed region of the human brain. It houses the cerebral cortex, the so-called “gray matter” where complex information processing events take place, and the basal ganglia, a brain region that helps control movement throughout the body and is involved in certain types of learning. Many of the genes responsible for development of the cerebrum have been identified but most of the DNA elements responsible for expressing these genes – turning them on/off – have not. This is especially true for gene enhancers, sequences of DNA that act to amplify the expression of a specific gene. Characterizing gene enhancers tends to be difficult because an enhancer does not have to be located directly adjacent to the gene it is enhancing, but can in fact be located hundreds of thousands of DNA basepairs away.
“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,” Visel says. “However, gene-centric studies have provided strong evidence that gene enhancers are critical for normal embryonic development of the brain and have also linked human diseases to perturbed enhancer sequences.