A recent study by scientists at New York University has uncovered significant connections between gene activity, genome packing, and genome-wide motions. Published in Nature Communications, the research enhances understanding of how the organization of the genome affects gene regulation and expression, potentially influencing neurological and cardiovascular disorders as well as cancer.
The human genome, which consists of approximately two meters of DNA compacted into a nucleus just 10 micrometers in diameter, exhibits complex movements influenced by transcription processes. When genes are active, they undergo unique motions that can affect the surrounding genomic landscape. The study utilized CRISPR technology and advanced microscopy techniques to visualize these dynamics in live human cells.
Researchers found that active genes contribute to the stirring motion of the genome, with the degree of genome compaction affecting gene movements. This work not only sheds light on gene behavior but also provides new insights into the physics of living systems.
In a separate investigation, a study linked routine NHS datasets to the VIKING I project, revealing a rare BRCA2 variant among women in Shetland. Eleven women from four families were found to carry the BRCA2 c.517-2A>G variant, which has been associated with breast and ovarian cancer. This variant exhibits a higher carrier frequency in Shetland compared to the general UK population, suggesting a founder effect from the island.
Additionally, researchers traced the ancestry of these carriers back to families from the Isle of Whalsay over 200 years ago. The study highlights the impact of genetic drift in isolated populations, emphasizing the need for tailored genetic counseling in such communities.
Lastly, a groundbreaking analysis utilizing deep learning techniques has suggested the existence of a previously unknown hominid species that may have interbred with early human ancestors. Conducted by a team of researchers from various institutions, the study indicates that the hybridization between Neanderthals and Denisovans was more common than previously thought, expanding our understanding of human evolutionary history.