TABLE 2.

Spliceosome protein genes associated with retinitis pigmentosa, including S. cerevisiae homologues, spliceosome complex, inheritance pattern, whether disease variants affect evolutionarily conserved amino acids and references.

Spliceosome factor gene	S. cerevisiae homologue	Spliceosome complex	Type of retinitis pigmentosa	Disease variants affect conserved amino acids	Selected references
PRPF3	PRP3	U4/U6 snRNP and U4/U6.U5 tri-snRNP	Autosomal dominant	Yes	Chakarova, 2002; Martinez-Gimeno et al., 2003; Gamundi et al., 2008; Zhong et al., 2016
PRPF4	PRP4	U4/U6 and U4/U6.U5 tri-snRNP	Autosomal dominant	Yes	Benaglio et al., 2014; Chen et al., 2014; Linder et al., 2014
PRPF6	PRP6	U5 snRNP	Autosomal dominant	Yes	Tanackovic et al., 2011a; Huang et al., 2015
PRPF8	PRP8	U5 snRNP	Autosomal dominant	Yes	McKie et al., 2001; Erkenez et al., 2002; Martinez-Gimeno et al., 2003; Ziviello et al., 2005; Towns et al., 2010; Maubaret et al., 2011
PRPF16/DHX38	PRP16	Non-snRNP	Autosomal recessive	Yes	Ajmal et al., 2014
PRPF31	PRP31	U4 snRNP	Autosomal dominant	Yes	Vithana et al., 2001; Xia et al., 2004; Sullivan et al., 2006; Waseem et al., 2007; Frio et al., 2008; Jin et al., 2008; Xiao et al., 2017
RP9/PAP1	No homologue	Non-snRNP	Autosomal dominant	NA	Keen et al., 2002
SNRNP200	BRR2	U5 snRNP	Autosomal dominant	Yes	Zhao et al., 2009; Li et al., 2010; Benaglio et al., 2011; Liu et al., 2012; Pan et al., 2014