Article
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
American journal of human genetics - 4 Jan 2018
Faundes Víctor, Newman William G, Bernardini Laura, Canham Natalie, Clayton-Smith Jill, Dallapiccola Bruno, Davies Sally J, Demos Michelle K, Goldman Amy, Gill Harinder, Horton Rachel, Kerr Bronwyn, Kumar Dhavendra, Lehman Anna, McKee Shane, Morton Jenny, Parker Michael J, Rankin Julia, Robertson Lisa, Temple I Karen, Banka Siddharth
Abstract excerpt
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as additional candidates for dominantly inherited developmental...
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