Functional analysis of pathological mutations in DNA topoisomerase 3A

Abstract excerpt

DNA topoisomerase IIIα (TOP3A) is a highly conserved type IA topoisomerase critical for genome maintenance. Its deletion causes embryonic lethality in many organisms, which has hampered attempts to understand its physiological role. Recently, human subjects with TOP3A mutations were identified who display a Bloom's syndrome (BS)-like phenotype and mitochondrial dysfunction, consistent with TOP3A's roles in the...

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