TABLE 1.

Factors or complexes with roles in DDR and mRNA 3′ end processing found to have a causative or associative link with various non-tumorigenic human diseases

CpA/DDR factors attributed to non-cancer related pathologies
Factor/complex	Disease(s)	Reference
PARN	Dyskeratosis congenita	Tummala et al., 2015
Integrator	Neurodevelopmental delay	Oegema et al., 2017
DIS3L2	Perlman syndrome	Astuti et al., 2012
SLBP	Osteoarthritis (SNP association)	Castaño-Betancourt et al., 2016
Ago2	Addiction (SNP association)	Barragán et al., 2016
PABPN1	Oculopharyngeal muscular dystrophy (OMPD)	Schreuder, de Die-Smulders, Herbergs, & Koehler, 2006
FIP1L1	Hypereosinophilic syndrome	Cools, Stover, & Gilliland, 2006
Rad51	Fanconi anemia-like	A. T. Wang etal., 2015
DNA-PKcs	Severe combined immunodeficiency	van der Burg et al., 2009
PARP1	Parkinson’s disease	Kam et al., 2018
hnRNP K	Au-Kline syndrome	Au et al., 2018
POLH	Xeroderma Pigmentosum variant V	J. Guo, Zhou, Zhang, Song, & Bian, 2013
mtPAP	Spastic ataxia with optic atrophy	W. C. Wilson et al., 2014
CstF-64	Intellectual disability (SNP association)	Grozeva et al., 2015
Clp1 (CFIIm)	Pontocerebellar hypoplasia	Karaca et al., 2014

Note: Unless specified, the gene-disease relationship was experimentally determined to play a direct role. Single nucleotide polymorphismss (SNP) identified near DDR/3′ processing genes by genome-wide association studies (GWAS) are indicated as “SNP association.” SNP associations were cataloged and searchable by gene or disease on DisGeNET (Piñero et al., 2017).

Abbreviations: CpA, cleavage and polyadenylation; DDR, DNA damage response; PARN, poly(A)-specific ribonuclease.