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Article

Analysis of human flap endonuclease 1 mutants reveals a mechanism to prevent triplet repeat expansion.

The Journal of biological chemistry - 18 Apr 2003

Liu Yuan, Bambara Robert A

Abstract excerpt

Flap endonuclease 1 (FEN1), involved in the joining of Okazaki fragments, has been proposed to restrain DNA repeat sequence expansion, a process associated with aging and disease. Here we analyze properties of human FEN1 having mutations at two conserved glycines (G66S and G242D) causing defects in nuclease activity. Introduction of these mutants into yeast led to sequence expansions. Reconstituting triplet...

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Source

Identifiers

PMID: 12554738
DOI: 10.1074/jbc.M212061200

Genes

FEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of human flap endonuclease 1 mutants reveals a mechanism to prevent triplet repeat expansion.PMID 12554738Read ↗

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