From: RNA biology of disease-associated microsatellite repeat expansions
Disorder | Repeating unit | Genomic location | Gene name | Normal length | Pathogenic length | Expanded repeats result in: | Repeat discovery & references | |||
---|---|---|---|---|---|---|---|---|---|---|
Gene silencing | xtrRNA transcription | xtrRNA proteins | xtrRNA foci | |||||||
FXS/FRAXA†| CGG | 5’UTR | FMR1 | 6-55 | 200+ | Yes* | No | No | No | |
SBMA†| CAG | Coding | AR | 9-36 | 38-62 | No | Yes | Yes* | L .D. | [167] |
DM1 | CTG | 3’UTR | DMPK | 5-37 | 50-10000 | No | Yes* | Yes | Yes* | [193] |
HD | CAG | Coding | HTT | 10-35 | 35+ | No | Yes | Yes* | L.D. | [192] |
SCA1 | CAG | Coding | ATXN1 | 6-35 | 49-88 | No | Yes | Yes* | L.D. | [232] |
FRAXE | CCG | 5'UTR | AFF2 | 4-39 | 200-900 | Yes* | No | No | No | [152] |
DRPLA | CAG | Coding | ATN1 | 6-35 | 49-88 | No | Yes | Yes* | L.D. | [155] |
SCA3 | CAG | Coding | ATXN3 | 12-40 | 55-86 | No | Yes | Yes* | Yes | [140] |
SCA2 | CAG | Coding | ATXN2 | 14-32 | 33-77 | No | Yes | Yes* | L.D. | |
FRDA | GAA | Intron | FXN | 8-33 | 90+ | Yes* | Yes / No | No | No | [30] |
SCA6 | CAG | Coding | CACNA1A | 4-18 | 21-30 | No | Yes | Yes* | L.D. | [337] |
EPM1 | CCCCGC CCCGCG | Promoter | CSTB | 2-3 | 30-80 | Yes* | Yes / No | No | No | [170] |
SCA7 | CAG | Coding | ATXN7 | 7-17 | 38-120 | No | Yes | Yes* | L.D. | [57] |
OPMD | GCG | Coding | PABPN1 | 6-10 | 12-17 | No | Yes | Yes* | No | [23] |
SCA8 | CTG | 3’UTR | ATXN8 | 16-34 | 74+ | No | Yes | Yes* | Yes* | [156] |
SCA12 | CAG | 5’UTR | PPP2R2B | 7-28 | 66-78 | No | Yes* | No | No | [121] |
SCA10 | ATTCT | Intron | ATXN10 | 10-20 | 500-4500 | No | Yes | ? | Yes* | [205] |
SCA17 | CAG | Coding | TBP | 25-42 | 47-63 | No | Yes | Yes* | L.D. | [224] |
DM2 | CCTG | Intron | CNBP | 10-26 | 75-11000 | No | Yes | ? | Yes* | [184] |
FXTAS/FXPOI | CGG | 5’UTR | FMR1 | 6-55 | 55-200 | No | Yes | Yes* | Yes* | |
HDL2 | CTG/CAG | 3'UTR/antisense | JPH3 | <50 | 50+ | No | Yes | ? | Yes* | [120] |
SCA31 | TGGAA | Intron | TK2/BEAN | 0 | 45+ | No | Yes | Yes* | Yes* | [256] |
SCA36 | GGCCTG | Intron | Nop56 | 3-14 | 650+ | No | Yes | ? | Yes* | [153] |
C9FTD/ALS | GGGGCC | Intron | C9ORF72 | 2-25 | 25+ | No | Yes | Yes* | Yes* | |
FRA7A | CGG | Intron | ZFN713 | 5-22 | 85+ | No | Yes* / No | No | No | [209] |
FRA2A | CGG | Intron | AFF3 | 8-17 | 300+ | No | Yes* / No | No | No | [210] |