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Article

Distribution bias and biochemical characterization of TOP1MT single nucleotide variants.

Scientific reports - 17 Aug 2017

Zhang Hongliang, Seol Yeonee, Agama Keli, Neuman Keir C, Pommier Yves

Abstract excerpt

Mitochondrial topoisomerase I (TOP1MT) is a type IB topoisomerase encoded in the nucleus of vertebrate cells. In contrast to the other five human topoisomerases, TOP1MT possesses two high frequency single nucleotide variants (SNVs), rs11544484 (V256I, Minor Allele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually exclusive across different human ethnic groups and even more clearly in...

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PMID: 28819183
DOI: 10.1038/s41598-017-09258-2
PMCID: PMC5561071

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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