RPGR: Its role in photoreceptor physiology, human disease, and future therapies.
Bottom Line: It interacts with a wide variety of ciliary proteins, but its exact function is unknown.Recently, there have been important advances both in our understanding of RPGR function and towards the development of a therapy.This review summarises the existing literature on human RPGR function and dysfunction, and suggests that RPGR plays a role in the function of the ciliary gate, which controls access of both membrane and soluble proteins to the photoreceptor outer segment.
Affiliation: Scottish Centre for Regenerative Medicine, University of Edinburgh, 5 Little France Drive, Edinburgh EH16 4UU, United Kingdom. Electronic address: email@example.com.Show MeSH
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Mentions: The RPGR gene is located on the short arm of the X chromosome (Xp21.1) (Meindl et al., 1996; Vervoort et al., 2000) and expresses at least 10 alternative transcripts of which 5 are predicted to be protein coding (Kirschner et al., 1999; Roepman et al., 2000; Neidhardt et al., 2007; Schmid et al., 2010). Expression of the major splice variants (see below) is at least partly driven by a TATA-less proximal promoter (Shu et al., 2012), which fits with the widespread expression of RPGR in adult mammalian tissues. The promoter contains 4 transcriptional start sites which may influence expression in different tissues and within which the transcription factor SP1 was shown to activate RPGR transcription. The protein products of the two major human RPGR alternative transcripts have been extensively studied (Fig. 1a) (Meindl et al., 1996; Roepman et al., 1996; Vervoort et al., 2000; Mavlyutov et al., 2002; Hong et al., 2003; Patil et al., 2012a).
Affiliation: Scottish Centre for Regenerative Medicine, University of Edinburgh, 5 Little France Drive, Edinburgh EH16 4UU, United Kingdom. Electronic address: firstname.lastname@example.org.