RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.
Résumé
Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli. Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies). We found 13 nonpathogenic variants only, among which a c.730_731delATinsG that truncates the last two transmembrane-spanning fragments and the Lys284 required for retinol binding, but does not segregate with the disease phenotype. We conclude that RRH is not a frequent gene in retinitis pigmentosa.
Domaines
Neurosciences [q-bio.NC]
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Ksantini_et_al._Table_1.pdf (83.85 Ko)
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Ksantini_et_al._Figure_1_small_format.tif (5.38 Mo)
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Ksantini_et_al._Figure_2_small_format.tif (6.07 Mo)
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Ksantini_et_al._RRH_revised.pdf (104.62 Ko)
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Ksantini_et_al._Table_2.pdf (6.25 Ko)
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Ksantini_et_al._Table_3.pdf (18.08 Ko)
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Format : Autre
Format : Autre