This paper introduces a method for template-independent enzymatic RNA synthesis using modified nucleotides and DNA polymerases, enabling the creation of RNA with defined sequences without traditional chemical synthesis limitations.

bioRxiv · Oct 9, 2024 · PreprintSynthetic Biology

Signatures of defective DNA repair and replication in early-onset renal cancer patients referred for germline genetic testing.

Elena V. Demidova, Ilya G. Serebriiskii, Ramilia Vlasenkova, Simon P. Kelow, Mark Andrake, Tiffiney R. Hartman, Tatiana Kent, Richard T. Pomerantz, Roland L. Dunbrack, Erica A. Golemis, Michael J. Hall, David Y.T. Chen, Mary B. Daly, Sanjeevani Arora

The paper identifies DNA repair and replication defects in early-onset renal cancer patients without known germline variants, suggesting these defects contribute to cancer development and may inform treatment strategies.

medRxiv · May 23, 2022 · PreprintGenetic & Genomic Medicine

The helicase domain of Polθ counteracts RPA to promote alt-NHEJ

Pedro A. Mateos‐Gómez, Tatiana Kent, Sarah Deng, Shane McDevitt, Ekaterina Kashkina, Trung Hoàng, Richard T. Pomerantz, Agnel J. Sfeir

This study shows that the helicase domain of Polθ promotes alt-NHEJ by displacing RPA, leading to increased chromosomal translocations and reduced HR-mediated gene targeting.

Nature Structural & Molecular Biology · Oct 19, 2017Peer-reviewedGenetics