{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bi H"],"funding":["U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)","NIDDK NIH HHS","NHLBI NIH HHS","U.S. Department of Health & Human Services | NIH | National Cancer Institute","U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute","NCI NIH HHS","U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases (National Institute of Diabetes & Digestive & Kidney Diseases)","U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI)","U.S. Department of Health & Human Services | NIH | National Institute of Diabetes and Digestive and Kidney Diseases"],"pagination":["7195"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12325982"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(1)"],"pubmed_abstract":["Deleterious germline DDX41 variants constitute the most common inherited predisposition disorder linked to myeloid neoplasms (MNs), yet their role in MNs remains unclear. Here we show that DDX41 is essential for erythropoiesis but dispensable for other hematopoietic lineages. Ddx41 knockout in early erythropoiesis is embryonically lethal, while knockout in late-stage terminal erythropoiesis allows mice to survive with normal blood counts. DDX41 deficiency induces a significant upregulation of G-quadruplexes (G4), which co-distribute with DDX41 on the erythroid genome. DDX41 directly binds to and resolves G4, which is significantly compromised in MN-associated DDX41 mutants. G4 accumulation induces erythroid genome instability, ribosomal defects, and p53 upregulation. However, p53 deficienc"],"journal":["Nature communications"],"pubmed_title":["DDX41 resolves G-quadruplexes to maintain erythroid genome integrity and prevent cGAS-mediated cell death."],"pmcid":["PMC12325982"],"funding_grant_id":["R01-DK124220","R01 HL148012","K99CA289959","R01 DK124220","R01 HL150729","F32-HL170648","R00 CA248835","K99 CA289959","R35-HL171168","R35 HL171168","R01-HL150729","R01-HL169507","F32 HL170648","R01 HL169507","R00-CA248835"],"pubmed_authors":["Tao K","Yang J","Ma R","Li E","Han X","Blanc L","Sukhanova M","Ji P","Bartom ET","Aydemir I","Godley LA","Bi H","Shukla V","Liu Y","Wang P","Ren K","Wang W","Tang Y"],"additional_accession":[]},"is_claimable":false,"name":"DDX41 resolves G-quadruplexes to maintain erythroid genome integrity and prevent cGAS-mediated cell death.","description":"Deleterious germline DDX41 variants constitute the most common inherited predisposition disorder linked to myeloid neoplasms (MNs), yet their role in MNs remains unclear. Here we show that DDX41 is essential for erythropoiesis but dispensable for other hematopoietic lineages. Ddx41 knockout in early erythropoiesis is embryonically lethal, while knockout in late-stage terminal erythropoiesis allows mice to survive with normal blood counts. DDX41 deficiency induces a significant upregulation of G-quadruplexes (G4), which co-distribute with DDX41 on the erythroid genome. DDX41 directly binds to and resolves G4, which is significantly compromised in MN-associated DDX41 mutants. G4 accumulation induces erythroid genome instability, ribosomal defects, and p53 upregulation. However, p53 deficienc","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-05-29T19:04:04.949Z","creation":"2026-04-08T05:45:53.048Z"},"accession":"S-EPMC12325982","cross_references":{"pubmed":["40764304"],"doi":["10.1038/s41467-025-62307-7"]}}