Stanford Medicine-led study clarifies how junk DNA influences gene expression
Changes to short repetitive sequences in the genome can have deleterious effects
Junk DNA is a popular yet controversial concept that states that organisms carry in their genomes DNA that has no positive impact on fitness. More than 10 percent of our genome is made up of repetitive seemingly nonsensical stretches of genetic material called satellite DNA.
A new study led by researchers at University of California Berkeley and Washington University explored the function of one particular type of satellite DNA, called HetSat, in the mouse genome. They found that HetSat is essential for regulating the expression of a gene called ETS2, which is involved in development and immune function.
The researchers used a combination of genetic and biochemical techniques to show that HetSat acts as an enhancer, a region of DNA that helps to turn on gene expression. They found that mutations in HetSat that disrupt its enhancer activity lead to decreased expression of ETS2 and developmental defects in mice.
This study provides new insights into the function of junk DNA and suggests that these repetitive sequences may play an important role in gene regulation.
Conclusion
This study has important implications for our understanding of the genome. It shows that even the most repetitive and seemingly dispensable DNA sequences can have important functions. This finding challenges the traditional view of junk DNA and suggests that there is much more to learn about the complexity of our genome.
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