R loops and links to human disease

Patricia Richard, James L. Manley, Journal of Molecular Biology, Available online 4 September 2016, ISSN 0022-2836, doi:10.1016/j.jmb.2016.08.031.

More than 40 genetic disorders are caused by gene-specific repeat expansions. These include Huntington’s disease (HD) (CAG repeats in huntingtin (HTT)), myotonic dystrophy type 1 (MD1) (CTG repeats in dystrophia myotonica protein kinase (DMPK)), spinocerebellar ataxia type 1 (SCA1) (CAG repeats in ataxin1 (ATXN1)), fragile X mental retardation or fragile X syndrome (FXS) (CGG repeats in fragile X mental retardation 1 (FMR1)) and Friedreich ataxia (FDRA) (GAA repeats in frataxin (FXN)).

 R loops and links to human disease