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Gene Review

PRPH  -  peripherin

Homo sapiens

Synonyms: NEF4, Neurofilament 4, PRPH1, Peripherin
 
 
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Disease relevance of PRPH

  • Three of five extraskeletal myxoid chondrosarcomas showed strong cytoplasmic reactivity with anti-peripherin [1].
  • METHODS: We induced hypoxic corneal edema and measured corneal deswelling (expressed as percent recovery per hour, PRPH, over 7 hours) with a modified optical pachometer in 12 corneas of 8 patients transplanted 7-18 years previously and in 21 normal adult control subjects [2].
  • PURPOSE: To understand the pathophysiology of human retinal degenerations caused by mutations in the peripherin/RDS gene [3].
  • Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens [4].
  • For example, peripherin is expressed in neuroblastomas, GFAP in astrocytomas and neurofilaments in tumors of neuronal origin [5].
 

High impact information on PRPH

 

Biological context of PRPH

 

Anatomical context of PRPH

 

Associations of PRPH with chemical compounds

  • RESULTS: The transplanted corneas had significantly decreased PRPH, induced swelling, endothelial permeability to fluorescein, and endothelial cell density compared to the controls, despite a similar estimated open-eye steady-state thickness [2].
  • Serotonin was present in trigeminal neurons containing CGRP, a potent vasoactive neuropeptide, peripherin, an intermediate filament present in neurons with unmyelinated axons, neurofilament H, which is present in neurons with myelinated axons, and in neurons binding IB4, a marker of nonpeptidergic nociceptors [17].
  • Mutations in the gene for the beta subunit of cyclic GMP phosphodiesterase cause retinal dystrophies in man, mice and dog, and mutations in the gene for the structural protein peripherin/RDS result in a retinal dystrophy in the mouse and a spectrum of differing retinal dystrophies in man [18].
  • We observed the ultrastructural features of surviving SGNs and analyzed the peripherin immunoreactivity at 4, 10, or 20 weeks after systemic injection of neomycin in rats [19].
  • RESULTS: A proline to arginine mutation in codon 210 of peripherin/RDS was found in all clinically affected individuals [20].
 

Other interactions of PRPH

 

Analytical, diagnostic and therapeutic context of PRPH

References

  1. Expression of the intermediate filament peripherin in extraskeletal myxoid chondrosarcoma. Cummings, T.J., Shea, C.R., Reed, J.A., Burchette, J.L., Prieto, V.G. J. Cutan. Pathol. (2000) [Pubmed]
  2. Functional measurements on the enlarged endothelial cells of corneal transplants. Bourne, W.M. Transactions of the American Ophthalmological Society. (1995) [Pubmed]
  3. Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. Jacobson, S.G., Cideciyan, A.V., Kemp, C.M., Sheffield, V.C., Stone, E.M. Invest. Ophthalmol. Vis. Sci. (1996) [Pubmed]
  4. Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens. Shastry, B.S., Trese, M.T. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  5. Intermediate filaments in the nervous system: implications in cancer. Ho, C.L., Liem, R.K. Cancer Metastasis Rev. (1996) [Pubmed]
  6. Network antibodies identify nuclear lamin B as a physiological attachment site for peripherin intermediate filaments. Djabali, K., Portier, M.M., Gros, F., Blobel, G., Georgatos, S.D. Cell (1991) [Pubmed]
  7. Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions. Tu, P.H., Raju, P., Robinson, K.A., Gurney, M.E., Trojanowski, J.Q., Lee, V.M. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  8. Voltage-gated Sodium Channels Confer Excitability to Human Odontoblasts: POSSIBLE ROLE IN TOOTH PAIN TRANSMISSION. Allard, B., Magloire, H., Couble, M.L., Maurin, J.C., Bleicher, F. J. Biol. Chem. (2006) [Pubmed]
  9. Role of Peripherin/rds in Vertebrate Photoreceptor Architecture and Inherited Retinal Degenerations. Goldberg, A.F. Int. Rev. Cytol. (2006) [Pubmed]
  10. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. Yang, Z., Li, Y., Jiang, L., Karan, G., Moshfeghi, D., O'Connor, S., Li, X., Yu, Z., Lewis, H., Zack, D., Jacobson, S., Zhang, K. Ophthalmic Genet. (2004) [Pubmed]
  11. Intron 1 is required for cell type-specific, but not injury-responsive, peripherin gene expression. Uveges, T.E., Shan, Y., Kramer, B.E., Wight, D.C., Parysek, L.M. J. Neurosci. (2002) [Pubmed]
  12. Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa. Souied, E.H., Rozet, J.M., Gerber, S., Dufier, J.L., Soubrane, G., Coscas, G., Munnich, A., Kaplan, J. European journal of ophthalmology. (1998) [Pubmed]
  13. Comparative evaluation of neural tissue antigens - neurofilament protein (NF), peripherin (PRP), S100B protein (S100B), neuron-specific enolase (NSE) and chromogranin-A (CgA) - in both normal and inflamed human mature dental pulp. Dourou, V., Lyroudia, K., Karayannopoulou, G., Papadimitriou, C., Molyvdas, I. Acta Histochem. (2006) [Pubmed]
  14. Expression of the gene for the retinal protein peripherin in the pineal gland of humans and Djungarian hamsters (Phodopus sungorus). Lerchl, A., Nordhoff, V., Gerding, H. Neurosci. Lett. (1998) [Pubmed]
  15. Immunohistochemical detection of Schwann cells in innervated and vascularized human intervertebral discs. Johnson, W.E., Evans, H., Menage, J., Eisenstein, S.M., El Haj, A., Roberts, S. Spine. (2001) [Pubmed]
  16. The role of the peripherin/RDS gene in retinal dystrophies. Kohl, S., Giddings, I., Besch, D., Apfelstedt-Sylla, E., Zrenner, E., Wissinger, B. Acta anatomica. (1998) [Pubmed]
  17. Serotonin in trigeminal Ganglia of female rodents: relevance to menstrual migraine. Berman, N.E., Puri, V., Chandrala, S., Puri, S., Macgregor, R., Liverman, C.S., Klein, R.M. Headache. (2006) [Pubmed]
  18. Animal models of human retinal dystrophies. Petersen-Jones, S.M. Eye (London, England) (1998) [Pubmed]
  19. Peripherin as a marker for degeneration of spiral ganglion neurons after aminoglycoside ototoxicity. Wang, Y., Liu, H., Shen, Y., Wang, Z., Li, H. Acta Otolaryngol. (2006) [Pubmed]
  20. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Gorin, M.B., Jackson, K.E., Ferrell, R.E., Sheffield, V.C., Jacobson, S.G., Gass, J.D., Mitchell, E., Stone, E.M. Ophthalmology (1995) [Pubmed]
  21. A new monoclonal antibody recognizing the amino-terminal consensus sequence of vertebrate intermediate filament proteins. Escurat, M., Phamgia, H., Huc, C., Pouplard-Barthelaix, A., Boitard, C., Bach, J.F., Gros, F., Portier, M.M. FEBS Lett. (1989) [Pubmed]
  22. Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. van Lith-Verhoeven, J.J., Cremers, F.P., van den Helm, B., Hoyng, C.B., Deutman, A.F. Mol. Vis. (2003) [Pubmed]
  23. Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin. Millecamps, S., Robertson, J., Lariviere, R., Mallet, J., Julien, J.P. J. Neurochem. (2006) [Pubmed]
  24. Prenatal and postnatal neuromuscular development of the ureterovesical junction. Pirker, M.E., Rolle, U., Shinkai, T., Shinkai, M., Puri, P. J. Urol. (2007) [Pubmed]
  25. Vestibular efferents contain peripherin. Leonard, R.B., Kevetter, G.A. Neurosci. Lett. (2006) [Pubmed]
 
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