Placing Landmarks on the Genome Map

Supercomputers and next-generation gene sequencers allow researchers to explore DNA and heredity.

Since 2001, the cost of DNA sequencing a human genome has dropped from billions to tens of thousands of dollars, enabling more focused investigations of gene expression. This has greatly improved scientists’ ability to understand biological systems and their relation to illness.

Many common diseases have a genetic component that predisposes one to become sick, but the connection is rarely simple. The combination of next-generation gene sequencers and high-performance computers are enabling biologists to ask novel questions about our DNA and to glean new insights about disease and heredity.

The schematic diagram shows human chromosome 21 with a small region outlined in red. The main rectangle below is a close-up of the outlined region, showing the binding locations of three transcription factors along the chromosome.

An important example involves the role of transcription factor proteins in gene regulation, which scientists are just beginning to explore. These proteins bind to landing pads on the genome and act as control dials for gene regulation — turning genes on or off, and determining the level of gene activity in a cell.

“If you’re comparing normal cells to cancer cells, you want to know what happened in the cancer cell that makes it different,” said Vishy Iyer, at The University of Texas at Austin. “The gene expression patterns change, and we want to know which genes are regulated up or down, and how that came about.”

About 2,000 transcription factor proteins have been identified, and some have been linked to breast and other cancers, Rett syndrome, and autoimmune diseases. However, little is known about how they work.

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