Table 1. List of diseases and associated genes for which a connection to R loops has been shown or is highly suspected.
| Disease | R-loop-associated genes (repeats)n | References [In vivo detection of R loops at expanded repeats (#)] |
|---|---|---|
| DM1 (myotonic dystrophy type 1) |
|
[39,41(#)] |
| HD (Huntington's disease) |
|
[39] |
| FRAXE (fragile X syndrome type E) |
|
[39] |
| FXS or FRAXA (fragile X syndrome type A) |
|
[39,49(#),55(#),56(#)] |
| FXTAS (fragile X tremor ataxia syndrome) |
|
[39,55(#)] |
| SCAs (spinocerebellar ataxias) |
|
[39] |
| FRDA (Friedreich ataxia) |
|
[39,40,49(#)] |
| ALS/FTD (frontotemporal dementia) |
|
[48,63] |
| Breast and ovarian cancer |
|
[75, 76, 77] |
| Eosinophilic leukemia |
|
[25] |
| Seminoma |
|
[79] |
| Colon cancer |
|
[65] |
| FA (Fanconi anemia) |
|
[87,88] |
| ALS (amyotrophic lateral sclerosis) |
|
[134] (yeast) |
| AOA2 (ataxia with oculomotor apraxia) |
|
[11,149,151,154] |
| AGS (Aicardi–Goutières syndrome) |
|
[162] |
| PWS (Prade–Willi syndrome) |
|
[64] |
| Burkitt's lymphoma |
|
[82] |
| MM (Multiple myeloma) |
|
[82] |
| AIDS-associated malignancies |
|
[92] |
In blue, genes where R loops form (*shown at endogenous locus) or may form (lack of in vivo evidence at endogenous locus). In gray, genes encoding proteins involved in R-loop prevention or removal.