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Human PrimPol mutation associated with high myopia has a DNA replication defect

27 Sept 2014

Abstract excerpt

PrimPol is a primase-polymerase found in humans, and other eukaryotes, involved in bypassing lesions encountered during DNA replication. PrimPol employs both translesion synthesis and repriming mechanisms to facilitate lesion bypass by the replisome. PrimPol has been reported to be a potential susceptibility gene associated with the development of myopia. Mutation of tyrosine 89 to aspartic acid (PrimPolY89D) has...

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PMID: 25262353
DOI: 10.1093/nar/gku879

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