Table 3 The association between repeats and human diseases.
From: Repetitive DNA sequence detection and its role in the human genome
Repeat | Family/Motif | Gene/Loci | Disease/genetic disorders |
|---|---|---|---|
Alu | APC | Colon cancer | |
Alu | BRCA1 | Breast cancer/ovarian cancer | |
Alu | BRCA2 | Breast cancer/ovarian cancer | |
Alu | MLVI2 | Leukemia | |
Alu | NF1 | Neurofibromatosis type I | |
Alu | F8 | Hemophilia A | |
Alu | U2AF65 | Loss of hnRNP C binding, leading to aberrant exonization | |
Alu | OAT | OAT deficiency | |
Alu | COL4A3 | Alport syndrome | |
Alu | GUSB | Sly syndrome | |
LTR | BAAT | Breast cancer/ovarian cancer | |
TEs | LTR | MSLN | Cancer |
LTR | ADH1C | Role in alcoholism | |
LTR | HSD17B1 | Breast cancer | |
L1 | FKTN | Fukuyama-type congenital muscular dystrophy | |
L1 | DMD | Duchenne muscular dystrophy | |
L1 | CYBB | Chronic granulomatous disease | |
L1 | RP2 | X-linked retinitis pigmentosa | |
L1 | CYBB | Chronic granulomatous disease | |
L1 | PDHX | Pyruvate dehydrogenase complex deficiency | |
L1 | RPS6KA3 | Coffin-Lowry syndrome | |
(CAG)n | Androgen Receptor (AR) gene | Prostate cancer | |
(AT)n | Adenomatous Polyposis Coli (APC) gene | Sporadic colorectal cancers | |
(ATTCT)n | the intron 4 of the gene SPATA31 | hepatocellular carcinoma (HCC) | |
(CGG)n | FMR1 gene | Autism spectrum disorder (ASD) | |
(CAG)n | HTT exon | Huntington disease | |
TRs | (GCN)n | HOXD13 exon | Synpolydactyly, type 1 |
(CTG)n | DMPK 3’UTR | Myotonic dystrophy type 1 (DM1) | |
(CGG)n | FRAXA 5’UTR | Fragile X syndrome | |
(GAA)n | FRDA exon | Friedreich ataxia | |
(CCTG)n | ZNF9 intron | Myotonic dystrophy (DM2) | |
(ATTCT)n | ATXN10 intron | Spinocerebellar ataxia, type 10 | |
(TGGAA)n | TK2/BEAN intron | Spinocerebellar ataxia, type 31 | |
(GGCCTG)n | NOP56 intron | Spinocerebellar ataxia, type 36 | |
(GGGGCC)n | C9orf72 intron | Amyotrophic lateral sclerosis, frontotemporal dementia (FTD) |
