{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T09:45:36Z","timestamp":1791279936013,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,2,5]],"date-time":"2008-02-05T00:00:00Z","timestamp":1202169600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Recently, the axonal\u2010SMN (a\u2010SMN) protein, which is generated by the gene responsible for spinal muscular atrophy (SMA), <jats:italic>SMN<\/jats:italic>, has been reported. Surprisingly, the <jats:italic>a\u2010SMN<\/jats:italic> transcript includes the entire sequence of <jats:italic>SMN<\/jats:italic> intron 3. We had expected a high frequency of insertion\/deletion mutations at a polyadenine tract in this intron, since simple repetitive sequence motifs are prone to mutations. Such mutations could change the C\u2010terminal structure of the a\u2010SMN protein. However, our study showed that almost all individuals, including healthy individuals, SMA patients and SMA\u2010like patients, carried only alleles with a normal polyadenine tract. Hypomutability of the polyadenine tract in <jats:italic>SMN<\/jats:italic> intron 3 suggests the existence of transcriptional mechanisms preventing alterations to the open reading frame of axonal SMN and not allowing variability in the protein structure of a\u2010SMN.<\/jats:p>","DOI":"10.1111\/j.1469-1809.2007.00409.x","type":"journal-article","created":{"date-parts":[[2008,2,5]],"date-time":"2008-02-05T08:33:00Z","timestamp":1202200380000},"page":"288-291","source":"Crossref","is-referenced-by-count":10,"title":["Hypomutability at the Polyadenine Tract in <i>SMN<\/i> Intron 3 Shows the Invariability of the a\u2010SMN Protein Structure"],"prefix":"10.1111","volume":"72","author":[{"family":"Gunadi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. H.","family":"Sasongko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Yusoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. J.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Nishioka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Nishio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,2,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.21.4405"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20283"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0147"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1205"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.14.1605"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80368-2"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/embo-reports\/kvf044"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/37144"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1177"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1907"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81632-3"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0610660104"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2005.05.014"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)90732-7"},{"key":"e_1_2_6_17_1","first-page":"445","article-title":"Distribution of germline BAT\u201040 poly\u2010adenine tract microsatellite variants in the Japanese","volume":"6","author":"Yokozaki H.","year":"2000","journal-title":"Int J Mol Med"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-1809.2007.00409.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-1809.2007.00409.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/j.1469-1809.2007.00409.x","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-1809.2007.00409.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T09:21:58Z","timestamp":1694424118000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-1809.2007.00409.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,5]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1111\/j.1469-1809.2007.00409.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-1809.2007.00409.x","archive":["Portico"],"relation":{},"ISSN":["0003-4800","1469-1809"],"issn-type":[{"value":"0003-4800","type":"print"},{"value":"1469-1809","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,5]]}}}