| gene |
DMPK |
FMR1 |
FXN |
C9ORF72 |
HTT |
SCA genes |
| repeat |
CTG |
CGG |
GAA |
GGGGCC |
CAG |
CAG |
| disease repeat length |
50–5,000 |
50–200 premutation, >200 full mutation |
100–1,200 |
30–1,600 |
35–120 |
33–80 |
| repeat region |
3′-UTR |
5′-UTR |
intron 1 |
intron 1 |
exon 1 |
coding exons |
| methylation increase |
YES (Steinbach et al., 1998; Lopez Castel et al., 2011; Naumann et al., 2014; Yanovsky-Dagan et al., 2015; Franck et al., 2021) |
YES (Oberle et al., 1991; Hansen et al., 1992; Sutcliffe et al., 1992; Chiurazzi et al., 1998; Lanni et al., 2013) |
YES (Al-Mahdawi et al., 2008, 2013; vans-Galea et al., 2012; Quesada et al., 2015; Russ et al., 2015; Wang et al., 2017) |
YES (Jones and Laird, 1999; Laffita-Mesa et al., 2012; Liu et al., 2014; Gijselinck et al., 2016; Hamzeiy et al., 2018) |
YES (Lanni et al., 2013) |
YES (Libby et al., 2008; De Souza et al., 2016) |
| loss of CTCF binding |
YES (Thornton et al., 1997; Naumann et al., 2014) |
YES (Sun et al., 2018) |
YES (Al-Mahdawi et al., 2008; Russ et al., 2015) |
? |
YES (Xi et al., 2013) |
YES (Tremblay and Jiang, 2019) |
| heterochromatinization |
YES (Eriksson et al., 2001; Yanovsky-Dagan et al., 2015; Buckley et al., 2016) |
YES (Coffee et al., 1999; Gheldof et al., 2006; Biacsi et al., 2008; Kumari and Usdin, 2010) |
YES (Gheldof et al., 2006; Rai et al., 2008) |
YES (Gijselinck et al., 2012) |
? |
? |
| loss of TAD boundary |
YES (Sun et al., 2018) |
YES (Sun et al., 2018) |
YES (Sun et al., 2018) |
YES (Sun et al., 2018) |
YES (Sun et al., 2018) |
YES (SCA1) (Sun et al., 2018) |
| gene downregulation |
YES (Fu et al., 1993; Hofmann-Radvanyi and Junien, 1993; Sabouri et al., 1993; Shaw et al., 1993; Jansen et al., 1996; Benders et al., 1997; Berul et al., 1999; Eriksson et al., 2000, 2001; Inukai et al., 2000; Klesert et al., 2000; Mounsey et al., 2000; Sarkar et al., 2000; Depardon et al., 2001; Coffee et al., 2002) |
YES (Tabolacci et al., 2005; Biacsi et al., 2008; Colak et al., 2014) |
YES (Gheldof et al., 2006; Al-Mahdawi et al., 2008; De Biase et al., 2009; vans-Galea et al., 2012) |
YES (DeJesus-Hernandez et al., 2011; Gijselinck et al., 2012; Waite et al., 2014; Thomson and Leavitt, 2018) |
NO |
NO |
