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in Drosophila the alternative TRF1/BRF complex appears responsible for the initiation of all known classes of Pol III transcription
To our knowledge, the four Valencian families included in the present study are the only families where the POLD1 Leu474Pro mutation has been found.
We demonstrated an association between six previously published single nucleotide polymorphisms (rs15869 [ BRCA2 (show BRCA2 Proteins)], rs1805389 [ LIG4 (show LIG4 Proteins)], rs8079544 [ TP53 (show TP53 Proteins)], rs25489 [ XRCC1 (show XRCC1 Proteins)], rs1673041 [ POLD1], and rs11615 [ ERCC1 (show ERCC1 Proteins)]) and subsequent CNS tumors in survivors of childhood cancer treated by radiation therapy.
The proofreading activity of DNA polymerase delta plays a role in shunting DNA mismatch repair to an EXO1 (show EXO1 Proteins)-dependent excision pathway as opposed to directly participating in gap formation via its 3'-5' exonuclease (show EXOSC10 Proteins) activity.
Frameshift mutation in POLD1 gene is associated with mismatch repair-deficiency and Lynch syndrome.
the pathogenic role of the POLD1-R689W mutation in the development of the human tumor and emphasize the need to experimentally determine the significance of Poldelta variants present in sporadic tumors.
Our work highlights that mutations in different POLD1 domains can lead to phenotypic variability, ranging from dominantly inherited cancer predisposition syndromes, to mild MDPL phenotypes
Germline or somatic variants in the POLE/POLD1 were identified in unresolved suspected Lynch syndrome cancers with mismatch repair defect.
WRN or the Bloom syndrome helicase (BLM) stimulates DNA polymerase delta progression across telomeric G-rich repeats, only WRN promotes sequential strand displacement synthesis and FEN1 (show FEN1 Proteins) cleavage.
study of complete exonuclease (show EXO1 Proteins) domains of POLE and POLD1 in 529 families characterized by presence of familial or early-onset mismatch repair proficient colorectal cancer, and/or APC (show APC Proteins)-negative and MUTYH (show MUTYH Proteins)-negative polyposis; results widen the phenotypic spectrum of the POLE/POLD1-associated syndrome and identify novel pathogenic variants
POLD1 is a central mediator of DNA replication and repair, and it is implied in cancer and other pathologies. (Review)
reducing expression of individual PRMT7 (show PRMT7 Proteins) target DNA repair genes showed that only the catalytic subunit of DNA polymerase (show POLB Proteins), POLD1, was able to resensitize PRMT7 (show PRMT7 Proteins) knock-down cells to DNA-damaging agents.
A point mutation (D400A) in the proofreading domain of DNA polymerase delta, encoded by the Pold1 gene, inactivates the 3' --> 5' exonuclease (show EXOSC10 Proteins) of poldelta and causes a mutator and epithelial cancer phenotype in a recessive manner.
Heterozygous mutation at L604 in the polymerase active site of DNA polymerase delta reduces life span, increases genomic instability, and accelerates tumorigenesis in an allele-specific manner, novel findings that have implications for human cancer.
DNA polymerase delta is essential for mammalian early embryogenesis, and the 3'-5' exonuclease (show EXOSC10 Proteins) activity of DNA polymerase delta is dispensable for normal development but necessary to suppress tumorigenesis
This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6.
, DNA polymerase delta
, DNA polymerase-delta
, lethal (3) 72Ac
, DNA polymerase delta catalytic subunit
, DNA-dependent DNA polymerase
, DNA polymerase delta subunit 3
, polymerase (DNA directed), delta 3
, polymerase (DNA-directed), delta 3, accessory subunit
, DNA-directed DNA polymerase delta 3
, DNA polymerase subunit delta 3
, polymerase (DNA directed), delta 1, catalytic subunit 125kDa
, DNA-directed DNA polymerase delta 1
, DNA polymerase delta catalytic subunit-like
, CDC2 homolog
, DNA polymerase subunit delta p125
, DNA polymerase delta 1, catalytic domain
, DNA polymerase delta, catalytic subunit