Mapping genotypes to chromatin accessibility profiles in single cells. (https://pubmed.ncbi.nlm.nih.gov/38720070/)

These scientists wanted to understand how changes in our genetic material, called mutations, can affect the way our cells develop and specialize into different types. They focused on a specific type of mutation called JAK2(V617F) found in patients with a blood disorder called myeloproliferative neoplasms.

To investigate this, the scientists developed a new method called GoT-ChA, which allows them to study how these mutations impact the way genes are accessed and used in individual cells. They collected cells from patients with the JAK2(V617F) mutation and compared them to normal cells.

By using GoT-ChA, the scientists were able to see that the mutation caused changes in how certain cells behaved and what kind of proteins they produced. They found that the mutation led to increased inflammation in some cells and altered the way other cells developed.

This study showed that mutations can change the way our cells work in specific ways, and this information can help researchers understand how diseases develop and progress. The scientists hope that their method, GoT-ChA, will be useful for studying mutations in different diseases in the future.

Izzo F., Myers RM., Ganesan S., Mekerishvili L., Kottapalli S., Prieto T., Eton EO., Botella T., Dunbar AJ., Bowman RL., Sotelo J., Potenski C., Mimitou EP., Stahl M., El Ghaity-Beckley S., Arandela J., Raviram R., Choi DC., Hoffman R., Chaligne R., Abdel-Wahab O., Smibert P., Ghobrial IM., Scandura JM., Marcellino B., Levine RL., Landau DA. Mapping genotypes to chromatin accessibility profiles in single cells. Nature. 2024 May 8. doi: 10.1038/s41586-024-07388-y.