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Vivid Biology is on pause from 2025 to 2028. This is because Claudia is living in Madrid, Spain.

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Human Regulator of Telomere Length Helicase 1 (RTEL1) couples nuclear envelope stability and functions to genome replica
Human Regulator of Telomere Length Helicase 1 (RTEL1) couples nuclear envelope stability and functions to genome replica
Human Regulator of Telomere Length Helicase 1 (RTEL1) couples nuclear envelope stability and functions to genome replica
2019
Arturo Londoño-Vallejo

Summary of the science

Every time a cell divides, a copy of the genome is made and the genome shortens. The genome contains important information and so it is necessary to protect them from degradation. Telomeres are genome 'caps' found at the end of genomes to protect this information from becoming lost after division. As telomeres are made up of nonsense, repetitive DNA, it doesn't matter if they are lost. However, sometimes telomeres are lost too rapidly or not maintained properly, which can result in the genome being corrupted. RTEL1 plays an important role in regulating telomere maintenance and when this protein doesn't function properly, as a result of a mutation, it can lead to disease.

About the research

Cells have the ability to maintain telomeres, a property that cancer cells exploit to enhance their longevity. Conversely, the absence of telomere maintenance can lead to the development of certain medical syndromes. The Londoño-Vallejo team focuses on studying the relationship between telomere maintenance and various diseases. Currently, their research is centred around the protein RTEL1, which aids telomere maintenance and preserves genomic stability by facilitating DNA replication and repair. A deficiency in RTEL1 can give rise to severe medical complications.

About the illustration

Immediately from the title, there is an idea of multiple functions being brought together by a single protein, which pointed us in the direction of an illustration that would show this overlap. We came up with the idea of a Venn diagram with RTEL1 being in the centre, and the other functions being represented in the component circles. The circles show nuclear envelope stability (top left), RTEL1 in action (top right) and genome replication (bottom).