Research Team Pieces Together Genome Puzzle

A group of UCSD bioengineers announced a breakthrough on Nov. 9 in the annotation of human genomes. They had identified a clearer framework of a genome’s contents — the genes and regulatory elements that define hereditary traits.

According to the researchers, their more comprehensive framework may assist in the creation of energy-efficient biofuels and new medicines.

Understanding genomes has been a hot topic in scientific research since the mid-1990s, when the Human Genome Project was launched in an effort to identify all genes in the human body. Despite the project’s completion in 2003, many details remained unclear due to the high complexity of the task, which involved compiling data for over 20,000 genes.

“Genome sequences indicate strings of letters, but we didn’t know what they meant,” said Byung-Kwan Cho, a lead researcher in the UCSD bioengineering department. “It’s like a secret code. To understand a genome, we have to know what those strings mean.”

The “secret code” of a genome is its DNA — the genetic instructions for the development and function of an organism. Genes are composed of DNA segments containing the blueprint for the construction of other cells.

“The annotation of the DNA sequence of an organism is of central importance in genomic sciences,” UCSD researcher Bernhard Palsson said. “It informs us about the location of the genes [and] their regulatory and structural elements. A DNA sequence is just a series of letters. The annotation gives information about what this series of letters means.”

Although scientists have been annotating genes for many years, UCSD researchers articulated the process to identify the exact makeup and location of genome components. Using tools like microwaves, sequencers and mass spectronomy, researchers identified a clearer framework for genomes and their regulatory elements.

Cho said the discovery will help the future of genetic research by minimizing the “trial and error” process scientists currently use when sequencing genes.

“Lots of people are generating data sets, but there is much more information in them,” Cho said. “We have to use this information to discover something, to explain something, to understand cell or biological systems.”

The discovery could have major implications for the creation of biofuels, like bioethanol. As natural energy sources become more costly, biofuels are considered by many scientists to be a more efficient alternative. Through synthetic biology, researchers will be able to use the newfound information about genomes to design sources of biofuel such as microorganisms, plants and bacteria.

Cho said the development could also one day play a role in the fight against human illness, as many diseases are caused by pathogenic genes that can be cured through the refinement of their genomes.

“To make drugs, we have to know which gene has to be destructed by the medicine,” Cho said. “In that case, the regulation of those genes is very important to design drugs. One medicine will destroy the regulations of very pathogenic genes.”

Readers can contact Connie Qian at [email protected].

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