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Gene Review

RRH  -  retinal pigment epithelium-derived...

Homo sapiens

Synonyms: Visual pigment-like receptor peropsin, peropsin
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Disease relevance of RRH

  • METHODS: All seven exons composing the RRH open reading frame and the immediate intron sequences were analyzed by direct nucleotide sequencing of 613 patients with forms of retinal degeneration [1].
  • Rectal cancer (1323 cases) showed an association with chromium (RRH 1.9, 95% CI = 1.2-3.1) and oil mist (RR 2.0; 95% CI = 1.0-3.9) [2].
  • Colon cancer risk (2009 cases) was positively associated with sedentary work (RRH 1.3, 95% CI = 1.1-1.6; P trend 0.001) and negatively associated with perceived workload (P trend = 0.007) [2].
  • For stomach cancer (1881 cases), we observed an association with exposure to electromagnetic fields (RRH 1.44, 95% CI = 1.01-2.05) and man-made vitreous fibers (MMVF) (p trend 0.03) [2].

High impact information on RRH

  • We have combined genetic, radiation-reduced somatic cell hybrid (RRH), fluorescent in situ hybridization (FISH), and physical mapping methods to generate a contig of overlapping YAC, PAC, and cosmid clones corresponding to > 3 continuous Mb in 11q13 [3].
  • CONCLUSIONS: A novel locus (MYP11) for autosomal dominant high myopia in a Chinese family maps to 4q22-q27 but is not associated with mutations in RRH [4].
  • For pancreas cancer (1302 cases) we found associations with exposure to chromium (RRH 1.8; 95% CI = 1.0-3.1; P trend 0.01), electromagnetic fields (RRH 1.8; 95% CI = 1.2-2.8; P trend 0.02), and sedentary work (RRH 1.3; 95% CI = 1.0-1.7; P trend 0.05) [2].
  • A common lineage for RRH and RGR, together with their sites of expression in the RPE, indicates that peropsin may act as a retinal isomerase [5].

Biological context of RRH

  • A comparison of opsin gene structures reveals that RRH and RGR share two common intron (introns 1 and 4) insertion positions which may reflect a shared ancestral gene [5].

Analytical, diagnostic and therapeutic context of RRH


  1. Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Rivolta, C., Berson, E.L., Dryja, T.P. Mol. Vis. (2006) [Pubmed]
  2. Occupational exposures and gastrointestinal cancers among Finnish women. Weiderpass, E., Vainio, H., Kauppinen, T., Vasama-Neuvonen, K., Partanen, T., Pukkala, E. J. Occup. Environ. Med. (2003) [Pubmed]
  3. A 3-Mb contig from D11S987 to MLK3, a gene-rich region in 11q13. Smith, C.M., Ma, N.S., Nowak, N.J., Shows, T.B., Gerhard, D.S. Genome Res. (1997) [Pubmed]
  4. A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Zhang, Q., Guo, X., Xiao, X., Jia, X., Li, S., Hejtmancik, J.F. Mol. Vis. (2005) [Pubmed]
  5. In silico characterisation and chromosomal localisation of human RRH (peropsin)--implications for opsin evolution. Bellingham, J., Wells, D.J., Foster, R.G. BMC Genomics (2003) [Pubmed]
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