Ontology highlight
ABSTRACT:
SUBMITTER: Pachlopnik Schmid J
PROVIDER: S-EPMC3526359 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Pachlopnik Schmid Jana J Lemoine Roxane R Nehme Nadine N Cormier-Daire Valéry V Revy Patrick P Debeurme Franck F Debré Marianne M Nitschke Patrick P Bole-Feysot Christine C Legeai-Mallet Laurence L Lim Annick A de Villartay Jean-Pierre JP Picard Capucine C Durandy Anne A Fischer Alain A de Saint Basile Geneviève G
The Journal of experimental medicine 20121210 13
DNA polymerase ε (Polε) is a large, four-subunit polymerase that is conserved throughout the eukaryotes. Its primary function is to synthesize DNA at the leading strand during replication. It is also involved in a wide variety of fundamental cellular processes, including cell cycle progression and DNA repair/recombination. Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ε 1), encoding the catalytic subunit of Polε, caused facial dysmorphism, immunodeficiency, ...[more]