Table 1.
CPA/APA and human disease.
| Disease | Type | Effector Factors | Cis/Trans | Gain/Loss | References |
|---|---|---|---|---|---|
| Cancer | |||||
| Acute myeloid leukaemia | APA | CPSF | Trans | Unknown | [86] |
| B-cell leukemia/lymphoma | APA-S | CFII, CPSF, CstF | Trans | Unknown | [87] |
| Bladder | APA-S | CFI, CstF | Trans | Unknown | [88,89] |
| Breast | APA-I | Estrogen | Trans | Unknown | [90,91] |
| Breast | APA-S | CstF, Estrogen | Trans | Unknown | [92,93,94,95,96,97,98,99,100,101,102] |
| Chronic lymphocytic leukaemia | APA-I | Unknown | Trans | Unknown | [103] |
| Colon | APA-S | Unknown | Trans | Unknown | [104,105] |
| Colorectal | APA-S | CPSF, CFI, hnRNPC | Trans | Unknown | [106,107,108,109,110,111] |
| Esophageal squamous cell carcinoma | CPA | PAS | Cis | Loss | [112] |
| Fanconi Anemia | APA-I | PAS-methylation, SF3A1 | Trans | Gain | [113,114] |
| Gastric | APA-S | Unknown | Trans | Unknown | [115] |
| Glioblastoma | APA-L | Unknown | Trans | Unknown | [116] |
| Glioblastoma | APA-S | CFI, PTBP1 | Trans | Loss | [78,117,118,119,120] |
| Hepatocellular carcinoma | APA-S | CFI | Trans | Unknown | [121,122,123] |
| Lung | APA-S | CFI, CstF | Trans | Unknown | [102,124,125,126,127,128,129,130,131] |
| Lynch syndrome | CPA | PAS | Cis | Loss | [132] |
| Mantle cell lymphoma | APA-S | PAS | Cis | Gain | [133,134] |
| Melanoma | CPA | Unknown | Trans | Unknown | [135] |
| Multiple | APA | UTR3 SNP | Cis | SNP | [136] |
| Multiple | APA-I | PAS-Pbx1 binding | Cis | Gain | [137] |
| Multiple | APA-S | CFI, CstF, PAPs, PABPN1 | Trans | Unknown | [138,139,140,141,142,143,144,145] |
| Multiple | CPA | PAS | Cis | Loss | [146,147] |
| Nasopharyngeal carcinoma | APA | Unknown | Trans | Unknown | [148] |
| Neuroblastoma | APA-L | CFII | Trans | Loss | [13] |
| Ovarian | APA-S | Unknown | Trans | Unknown | [149,150,151,152] |
| Pancreatic ductal adenocarcinoma | APA-S | Unknown | Trans | Unknown | [153] |
| Proliferative conditions | APA-S | Unknown | Trans | Unknown | [154,155] |
| Prostate | CPA | Other | Trans | Loss | [156] |
| Small intestinal neuroendocrine | APA-S | Unknown | Trans | Unknown | [157] |
| Cardiovascular | |||||
| Atherosclerosis | CPA | Unknown | Trans | Unknown | [158] |
| Cardiac hypertrophy | APA | CstF, PAP | Trans | Unknown | [159,160,161,162] |
| Cardiac hypertrophy | CPA | PABPC1 | Trans | Unknown | [163] |
| Cardiomyopathy, Dilated | APA | CFII, CPSF, PABPN1 | Trans | Unknown | [164] |
| Hypertension | APA-L | UTR3 SNP | Cis | Unknown | [165,166] |
| Hypertension | APA-S | DSE | Cis | Gain | [167] |
| Ischemia/reperfusion injury | APA-S | Unknown | Trans | Unknown | [168] |
| Thrombosis (Deep vein) | APA-I | DSE | Cis | Gain | [169,170] |
| Thrombosis (Venous) | CPA | CS, DSE | Cis | Gain | [171,172,173,174] |
| Congenital Abnormalities | |||||
| Microphthalmia | APA-L | PAS | Cis | Loss | [175] |
| Mullerian aplasia | CPA | Unknown | Trans | Unknown | [176] |
| Bone fragility (Osteogenesis imperfecta) | CPA | PAS | Cis | Loss | [177] |
| Rickets | APA | Unknown | Trans | Unknown | [178] |
| Endocrine | |||||
| Diabetes, neonatal | CPA | PAS | Cis | Loss | [179] |
| Diabetes, type 2 | APA | Unknown | Trans | Unknown | [180] |
| Hematological | |||||
| Glanzmann Thrombasthenia | CPA | PAS | Cis | Loss | [181] |
| α-Thalassemia | CPA | PAS | Cis | Loss | [182] |
| β-Thalassemia | CPA | PAS | Cis | Loss | [183,184] |
| Immunological | |||||
| IPEX syndrome | CPA | PAS | Cis | Loss | [185,186] |
| Nasal polyps | APA | Unknown | Trans | Unknown | [187,188] |
| Severe combined immunodeficiency | CPA | PAS | Cis | Loss | [189] |
| Systemic lupus erythematosus | APA-L | PAS | Cis | Gain, Loss | [190,191,192,193] |
| Wiskott-Aldrich syndrome | CPA | PAS | Cis | Loss | [194] |
| Lung Disease | |||||
| Pulmonary fibrosis | APA-S | CFI | Trans | Loss | [195] |
| Musculoskeletal | |||||
| Muscle fibrosis | APA-I | Unknown | Trans | Unknown | [196] |
| Muscular Dystrophy, Facioscapulohumeral | CPA | PAS | Cis | Gain | [197] |
| Muscular dystrophy, Oculopharyngeal | APA-S | PABP | Trans | Loss | [198,199] |
| Myotonic dystrophy | APA-S | CFI | Trans | Loss | [200] |
| Oculopharyngeal muscular dystrophy | APA | PABPN1 | Trans | Loss | [201] |
| Neurological | |||||
| Alzheimer Disease | APA | Unknown | Trans | Unknown | [202,203,204,205,206] |
| Alzheimer Disease | CPA | U1 snRNP | Trans | Unknown | [207] |
| Amyotrophic lateral sclerosis | APA | FUS, TARDBP | Trans | Loss | [206,208,209,210,211] |
| Amyotrophic lateral sclerosis | CPA | PAS | Cis | Gain | [212,213] |
| Anxiety Disorders | APA-S | PAS | Cis | SNP | [214,215,216] |
| Fabry disease | CPA | PAS | Cis | Loss | [217] |
| Fragile X syndrome | APA-S | UTR5 repeats | Cis | Unknown | [218] |
| Friedreich’s Ataxia | APA | CPSF | Trans | Loss | [219] |
| Huntington’s disease | CPA | PAS | Cis | Gain | [220] |
| Metachromatic leukodystrophy pseudodeficiency | APA-L | PAS | Cis | Loss | [221,222] |
| Neuropsychiatric disease | APA-L | CFI | Trans | Gain | [223] |
| Parkinson disease | APA | UTR3 SNP | Cis | Unknown | [224] |
| Parkinson disease | APA-L | PAS dopamine | Trans | Unknown | [206,224] |
| Suicidal behavior | APA-S | PAS | Cis | SNP | [225] |
| Other | |||||
| Stress | APA | Unknown | Trans | Unknown | [226] |
| Zellweger syndrome | APA-S | PAS | Cis | Loss | [227] |
APA—alternative polyadenylation, APA-S—APA shortening, APA-L—APA lengthening, APA-I—APA internal, CPA—cleavage and polyadenylation, PAS—polyadenylation signal, hnRNPC—heterogeneous nuclear ribonucleoprotein C, SF3A1—splicing factor 3a subunit 1, PTBP1—polypyrimidine tract binding protein 1, Pbx1—PBX homeobox 1, U1 snRNP—small nuclear ribonucleoprotein U1, TARDBP—TAR DNA binding protein.