In the human genome, transposable elements make up a large portion and are responsible for much of the mass of a cell’s DNA. Transposable elements are nothing but DNA sequences that can change their position within a genome and even alter a cell’s genetic identity. These elements help regulate gene expression, the process by which information from a gene is used to synthesize functional gene products or transcription of DNA to RNA.
Now, an international team of scientists, led by Didier Trono at EPFL, has discovered that transposable elements play a significant role in influencing the human brain’s development. They do this by partnering up with two specialized proteins from the family of proteins known as “Krüppel-associated box-containing zinc finger proteins, or KZFPs. Their study is published in Science Advances.
Another study led by Trono in 2019 showed that KZFPs tamed the regulatory activity of transposable elements during the first few days of the fetus’s life. However, the scientists suspected that these regulatory sequences were subsequently re-ignited to orchestrate adult organs’ development and function.
In the new study, the researchers identified two KZFPs expressed in specific regions of the human developing and adult brain. These two KZFPs are specific only to primates. Further observations revealed that these proteins kept controlling the activity of transposable elements in neurons and brain organoids cultures. The result is an influence on the differentiation and neurotransmission profile of neurons. Also, the KZFPs guarded the cells against inflammatory responses, which would have triggered if their target transposable elements were left to be expressed.
According to Didier Trono, these two proteins, by taming the transposable elements, have contributed to shaping the human brain. The study also suggests the possible underlying cause and provides leads to the prevention and treatment of ALS (Amyotrophic lateral sclerosis) and other neurodegenerative and neurodevelopmental disorders.
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Source: Medical Xpress