Convergent evolution of somatic escape variants in SERPINA1 in the liver in alpha-1 anti-trypsin deficiency
Natalia Brzozowska, Lily Wu, Vera Khodzhaeva, William James Griffiths, Adam Duckworth, Hyunchul Jung, Tim H. H. Coorens, Yvette E. Hooks, Joseph E. Chambers, Peter J Campbell, Stefan John Marciniak, Matthew Hoare
The paper identifies convergent somatic escape variants in SERPINA1 in A1AT deficiency patients, showing adaptive mutations that counteract the disease-causing germline variant.
bioRxiv · Sep 2, 2024 · PreprintGenomics