{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T09:10:07Z","timestamp":1790068207683,"version":"4.0.1"},"reference-count":27,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>No susceptibility genes have been identified in human prion disase, apart from the prion protein gene (<jats:italic>PRNP<\/jats:italic>). The gene <jats:italic>SPRN<\/jats:italic>, encodes Shadoo (Sho, shadow of prion protein) which has protein homology and possible functional links with the prion protein.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>A genetic screen was carried out of the open reading frame of <jats:italic>SPRN<\/jats:italic> by direct sequencing in 522 patients with prion disease, including 107 with variant Creutzfeldt\u2013Jakob disease (vCJD), and 861 healthy controls.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>A common coding variant of <jats:italic>SPRN<\/jats:italic>, two further single nucleotide polymorphisms (SNPs) and three rare insertion or deletion variants were found. A single base-pair insertion at codon 46, predicted to cause a frameshift and potentially a novel protein, was found in two patients with vCJD but not in controls (p\u200a=\u200a0.01). Two linked SNPs, one in intron 1 and the other a missense variant at codon 7, were associated with risk of sporadic CJD (p\u200a=\u200a0.009).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>These data justify the functional genetic characterisation of <jats:italic>SPRN<\/jats:italic> and support the involvement of Shadoo in prion pathobiology.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.061804","type":"journal-article","created":{"date-parts":[[2008,9,19]],"date-time":"2008-09-19T20:24:42Z","timestamp":1221855882000},"page":"813-817","source":"Crossref","is-referenced-by-count":61,"title":["Association of a null allele of <i>SPRN<\/i> with variant Creutzfeldt\u2013Jakob disease"],"prefix":"10.1136","volume":"45","author":[{"given":"J A","family":"Beck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T A","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Adamson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Poulter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J B","family":"Uphill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Molou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Collinge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Mead","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2008,9,19]]},"reference":[{"key":"2025100511134814000_45.12.813.1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.101130398"},{"key":"2025100511134814000_45.12.813.2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6320"},{"key":"2025100511134814000_45.12.813.3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601830"},{"key":"2025100511134814000_45.12.813.4","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.24.1.519"},{"key":"2025100511134814000_45.12.813.5","doi-asserted-by":"publisher","DOI":"10.1126\/science.6801762"},{"key":"2025100511134814000_45.12.813.6","doi-asserted-by":"publisher","DOI":"10.1038\/383685a0"},{"key":"2025100511134814000_45.12.813.7","doi-asserted-by":"publisher","DOI":"10.1038\/39057"},{"key":"2025100511134814000_45.12.813.8","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1038\/38925","article-title":"The same prion strain causes vCJD and BSE.","volume":"389","author":"Hill","year":"1997","journal-title":"Nature"},{"key":"2025100511134814000_45.12.813.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)15520-7"},{"key":"2025100511134814000_45.12.813.10","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/66.1.241"},{"key":"2025100511134814000_45.12.813.11","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.324.7352.1479"},{"key":"2025100511134814000_45.12.813.12","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20708"},{"key":"2025100511134814000_45.12.813.13","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/S0140-6736(05)64378-4","article-title":"Prion protein gene analysis in new variant cases of Creutzfeldt-Jakob disease.","volume":"348","author":"Collinge","year":"1996","journal-title":"Lancet"},{"key":"2025100511134814000_45.12.813.14","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-002-0133-9"},{"key":"2025100511134814000_45.12.813.15","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.121172098"},{"key":"2025100511134814000_45.12.813.16","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00007.2007"},{"key":"2025100511134814000_45.12.813.17","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2007.05.001"},{"key":"2025100511134814000_45.12.813.18","doi-asserted-by":"crossref","unstructured":"Moore RC Lee IY Silverman GL Harrison PM Strome R Heinrich C Karunaratne A Pasternak SH Chishti MA Liang Y Mastrangelo P Wang K Smit AFA Katamine S Carlson GA Cohen FE Prusiner SB Melton DW Tremblay P Hood LE Westaway D . Ataxia in prion protein (PrP)-deficient mice is associated with upregulation of the novel PrP-like protein Doppel. J Mol Biol 1999;292:797\u2013817.","DOI":"10.1006\/jmbi.1999.3108"},{"key":"2025100511134814000_45.12.813.19","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(03)00707-8"},{"key":"2025100511134814000_45.12.813.20","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(00)01100-9"},{"key":"2025100511134814000_45.12.813.21","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(00)01319-7"},{"key":"2025100511134814000_45.12.813.22","doi-asserted-by":"crossref","unstructured":"Premzl M Gamulin V . Comparative genomic analysis of prion genes. BMC Genomics 2007;1.","DOI":"10.1186\/1471-2164-8-1"},{"key":"2025100511134814000_45.12.813.23","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"2025100511134814000_45.12.813.24","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5352.827"},{"key":"2025100511134814000_45.12.813.25","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M412298200"},{"key":"2025100511134814000_45.12.813.26","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(98)01208-0"},{"key":"2025100511134814000_45.12.813.27","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg125"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2008.061804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:13:54Z","timestamp":1759688034000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2008.061804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,19]]},"references-count":27,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2008,12,1]]},"published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1136\/jmg.2008.061804"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2008.061804","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,19]]}}}