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Article

Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.

American journal of human genetics - 2 Jul 2020

Kim Kyung-Hee, Hong Eun Pyo, Shin Jun Wan, Chao Michael J, Loupe Jacob, Gillis Tammy, Mysore Jayalakshmi S, Holmans Peter, Jones Lesley, Orth Michael, Monckton Darren G, Long Jeffrey D, Kwak Seung, Lee Ramee, Gusella James F, MacDonald Marcy E, Lee Jong-Min

Abstract excerpt

A recent genome-wide association study of Huntington disease (HD) implicated genes involved in DNA maintenance processes as modifiers of onset, including multiple genome-wide significant signals in a chr15 region containing the DNA repair gene Fanconi-Associated Nuclease 1 (FAN1). Here, we have carried out detailed genetic, molecular, and cellular investigation of the modifiers at this locus. We find that...

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Identifiers

PMID: 32589923
DOI: 10.1016/j.ajhg.2020.05.012
PMCID: PMC7332667

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