{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T05:10:40Z","timestamp":1697346640939},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,1,22]],"date-time":"2007-01-22T00:00:00Z","timestamp":1169424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2007,2]]},"abstract":"Abstract<\/jats:title>Background: <\/jats:bold> The SMN<\/jats:italic> genes are closely related to the development of spinal muscular atrophy (SMA); mutated SMN1<\/jats:italic> causes SMA and functional SMN2<\/jats:italic> modifies the severity of SMA. SMN1<\/jats:italic> and SMN2<\/jats:italic> are almost identical, being distinguished by only five base pair substitutions located at the 3\u2019\u2010end of the genes. Recently, a synonymous DNA variant, C117T, has been identified at the first codon of SMN2<\/jats:italic> exon 2a in the Caucasian population. It is still a question whether the variant is specific to the Caucasian population, and whether it is found only in SMN2<\/jats:italic>. In order to address these questions, Japanese populations were screened for the presence of C117T in the SMN<\/jats:italic> genes.<\/jats:p>Methods: <\/jats:bold> To detect the C117T variant in a Japanese population, polymerase chain reaction\u2013restriction fragment length polymorphism was performed in 33 SMA patients homozygous for SMN1<\/jats:italic> deletion and 106 control individuals. Reverse transcription\u2013polymerase chain reaction (RT\u2010PCR) was performed to clarify whether the variant affects the splicing process of the SMN1<\/jats:italic> gene.<\/jats:p>Results: <\/jats:bold> The C117T variant was found in one out of 33 Japanese SMA patients (3.0%) and in seven out of 106 Japanese control individuals (6.6%). There was no significant difference between frequencies in the present data and those reported from the Caucasian population. Notably, the C117T variant was also detected in the SMN1<\/jats:italic> gene; a control individual with homozygous SMN2<\/jats:italic> deletion was found to have the variant on one of the SMN1<\/jats:italic> genes. RT\u2010PCR indicated that this variant of the SMN1<\/jats:italic> gene was normally transcribed and did not affect the splicing process in this individual.<\/jats:p>Conclusions: <\/jats:bold> The C117T variant was found not only in the Caucasian population, but also in the Japanese population. In addition, the variant was not specific to SMN2<\/jats:italic>: it was also found in SMN1<\/jats:italic>. RT\u2010PCR indicated that the variant did not affect the splicing process.<\/jats:p>","DOI":"10.1111\/j.1442-200x.2007.02301.x","type":"journal-article","created":{"date-parts":[[2007,1,22]],"date-time":"2007-01-22T19:29:27Z","timestamp":1169494167000},"page":"8-10","source":"Crossref","is-referenced-by-count":1,"title":["C117T variant in the SMN1<\/i> gene found in the Japanese population"],"prefix":"10.1111","volume":"49","author":[{"given":"AHMAD HAMIM","family":"SADEWA","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YOSUKE","family":"HARADA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"TEGUH HARYO","family":"SASONGKO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MASAFUMI","family":"MATSUO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HISAHIDE","family":"NISHIO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,1,22]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/344767a0"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.257"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/515465"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<463::AID-AJMG6>3.0.CO;2-V"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-002-0811-4"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050172"},{"key":"e_1_2_5_9_2","first-page":"834","article-title":"Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5","volume":"59","author":"Van Der Steege G","year":"1996","journal-title":"Am. J. Hum. Genet"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100473"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1442-200X.2007.02301.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1442-200X.2007.02301.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T10:07:35Z","timestamp":1697278055000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1442-200X.2007.02301.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1,22]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1111\/j.1442-200X.2007.02301.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1442-200x.2007.02301.x","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1,22]]}}}