{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T12:36:39Z","timestamp":1778589399694,"version":"3.51.4"},"reference-count":36,"publisher":"Proceedings of the National Academy of Sciences","issue":"24","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1996,11,26]]},"abstract":"<jats:p>Retinitis pigmentosa (RP) is a group of progressive retinal\n dystrophies that include the most common hereditary degenerative\n diseases affecting the retina. Although most disease phenotypes appear\n to result from defects at single genetic loci (monogenic), at least one\n instance of RP appears to require a coinheritance of defects in the\n unlinked peripherin\/rds and rom-1 alleles (digenic), which encode the\n polypeptide subunits of an oligomeric transmembrane protein complex\n present at photoreceptor outer segment disc rims. Sedimentation\n velocity analysis was performed upon the affected gene products\n expressed heterologously in COS-1 cells to examine the assembly of the\n subunit polypeptides. The results indicate that the missense\n peripherin\/rds mutant, L185P, which segregates with instances of\n digenically inherited RP, is conditionally defective with respect to\n its subunit assembly. Unlike wild-type peripherin\/rds, the L185P\n mutant does not form native-like homotetramers on its own; however, the\n L185P mutant can assemble with wild-type rom-1 to form a structurally\n normal heterotetrameric complex. These findings provide a novel\n molecular-based rationale for the unusual digenic disease inheritance\n pattern and offer insight into regions of peripherin\/rds and rom-1,\n which contribute to subunit\u2013subunit interactions.<\/jats:p>","DOI":"10.1073\/pnas.93.24.13726","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T14:34:16Z","timestamp":1027694056000},"page":"13726-13730","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":92,"title":["Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin\/rds and\u2009rom-1"],"prefix":"10.1073","volume":"93","author":[{"given":"Andrew\u2009F.\u2009X.","family":"Goldberg","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of\r British Columbia, Vancouver, BC Canada, V6T 1Z3"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert\u2009S.","family":"Molday","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of\r British Columbia, Vancouver, BC Canada, V6T 1Z3"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"341","published-online":{"date-parts":[[1996,11,26]]},"reference":[{"key":"e_1_3_2_1_2","volume-title":"Retinitis Pigmentosa","author":"Heckenlively J R","year":"1988","unstructured":"J R Heckenlively Retinitis Pigmentosa (Lippincott, Philadelphia, 1988)."},{"key":"e_1_3_2_2_2","first-page":"1659","volume":"34","author":"Berson E L","year":"1993","unstructured":"E L Berson Invest Ophthalmol Vis Sci 34, 1659\u20131676 (1993).","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520413"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0140525X00039212"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.suppl_1.1739"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.13.4991"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.19.8840"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)74360-9"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(92)90236-7"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.14-10-05818.1994"},{"key":"e_1_3_2_11_2","first-page":"50","volume":"28","author":"Molday R S","year":"1987","unstructured":"R S Molday, D Hicks, L L Molday Invest Ophthalmol Vis Sci 28, 50\u201361 (1987).","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00471a025"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.116.3.659"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/1350-9462(94)90013-2"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(92)90137-3"},{"key":"e_1_3_2_16_2","first-page":"352","volume":"37","author":"Moritz O L","year":"1996","unstructured":"O L Moritz, R S Molday Invest Ophthalmol Vis Sci 37, 352\u2013361 (1996).","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/338070a0"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(92)90226-4"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(81)90051-3"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4835(85)90179-4"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/354478a0"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/354480a0"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80193-4"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00216463"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380030326"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0393-213"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.12.2181"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1993.01090110097033"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0393-208"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0393-202"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8202715"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi960259n"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00043a028"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1895"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1066"},{"key":"e_1_3_2_36_2","first-page":"1662","volume":"37","author":"Jacobson S G","year":"1996","unstructured":"S G Jacobson, A V Cideciyan, C M Kemp, V C Sheffield, E M Stone Invest Ophthalmol Vis Sci 37, 1662\u20131674 (1996).","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.93.24.13726","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T19:02:19Z","timestamp":1649876539000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.93.24.13726"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,11,26]]},"references-count":36,"journal-issue":{"issue":"24","published-print":{"date-parts":[[1996,11,26]]}},"alternative-id":["10.1073\/pnas.93.24.13726"],"URL":"https:\/\/doi.org\/10.1073\/pnas.93.24.13726","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,11,26]]},"assertion":[{"value":"1996-07-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1996-09-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"1996-11-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}