Article
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Nature genetics - 1 Aug 2013
Weedon Michael N, Ellard Sian, Prindle Marc J, Caswell Richard, Lango Allen Hana, Oram Richard, Godbole Koumudi, Yajnik Chittaranjan S, Sbraccia Paolo, Novelli Giuseppe, Turnpenny Peter, McCann Emma, Goh Kim Jee, Wang Yukai, Fulford Jonathan, McCulloch Laura J, Savage David B, O'Rahilly Stephen, Kos Katarina, Loeb Lawrence A, Semple Robert K, Hattersley Andrew T
Abstract excerpt
DNA polymerase δ, whose catalytic subunit is encoded by POLD1, is responsible for lagging-strand DNA synthesis during DNA replication. It carries out this synthesis with high fidelity owing to its intrinsic 3'- to 5'-exonuclease activity, which confers proofreading ability. Missense mutations affecting the exonuclease domain of POLD1 have recently been shown to predispose to colorectal and endometrial cancers....
Topics
Join the communities discussing this publication.