{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T09:10:21Z","timestamp":1769850621748,"version":"3.49.0"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4526,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We discuss the definition of mutations in osteogenesis imperfecta (OI) using a chemical cleavage method for detecting mismatched bases in patient mRNA: control cDNA hetero\u2010duplexes. The method is based on the increased chemical modification of cytosines (Cs) by hydroxylamine and thymines (Ts) by osmium tetroxide when they are not paired with their complementary base. The DNA is then cleaved at the modified base with piperidine and the use of radioactively labeled DNA probes allows the position of the mismatched base to be determined by electrophoresis of the cleavage\u2010product. The precise mutations are then determined by specific amplification and sequencing of the region containing the mismatched base. In perinatally lethal OI (OI type II) mismatches have been detected in all 17 cases studied; 12 of these have been fully characterized. In 7 of these 12 cases the mismatches were point mutations in the genes for pro\u03b11(I) or pro\u03b12(I) which resulted in glycine substitutions in the triple helical region of the protein. Sequence variation was detected in addition to the glycine substitutions in 2 cases. In 2 cases the RNA mismatch resulted from changes in the amino acid sequence of the C\u2010propetide domain. In the 3 remaining cases the mismatch resulted from silent nucleotide sequence variants. In the less severe forms of OI we have studied, mismatches have been detected and characterized in 8 of 12 cases. In 4 of these 8 cases the mismatch resulted from presumably neutral sequence variation and in the other 4 cases mutations have been defined.<\/jats:p><jats:p>Three of these were also glycine substitutions in the \u03b11(I) or \u03b12(I); and in one case, 014, the mutation was the deletion of exon 8 in the \u03b11(I) seqence.<\/jats:p>","DOI":"10.1002\/ajmg.1320450216","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:39:13Z","timestamp":1118507953000},"page":"233-240","source":"Crossref","is-referenced-by-count":20,"title":["Chemical cleavage method for the detection of RNA base changes: Experience in the application to collagen mutations in osteogenesis imperfecta"],"prefix":"10.1002","volume":"45","author":[{"given":"John F.","family":"Bateman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shireen R.","family":"Lamande","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marnie","family":"Hannagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Moeller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans\u2010Henrik M.","family":"Dahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William G.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.5.1309"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2170103"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2400699"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"4445","DOI":"10.1016\/S0021-9258(18)61213-X","article-title":"A structural mutation of the collagen \u03b1 1(I) CB7 peptide in lethal perinatal osteogenesis imperfecta","volume":"262","author":"Bateman JF","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"7021","DOI":"10.1016\/S0021-9258(18)48196-3","article-title":"Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the \u03b1 1(I)\u2010chain of type I collagen","volume":"262","author":"Bateman JF","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"11627","DOI":"10.1016\/S0021-9258(18)37829-3","article-title":"Substitution of arginine for glycine 667 in the collagen \u03b1 1(I) chain in lethal perinatal osteogenesis imperfecta: Demonstration of the peptide defect by in vitro expression of the mutant cDNA","volume":"263","author":"Bateman JF","year":"1988","journal-title":"J Biol Chem"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"10960","DOI":"10.1016\/S0021-9258(18)60412-0","article-title":"A frameshift mutation results in a truncated nonfunctional carboxyterminal pro\u03b1 1(I) propeptide of type I procollagen in osteogenesis imperfecta","volume":"264","author":"Bateman JF","year":"1989","journal-title":"J Biol Chem"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010109"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00274a023"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00291a023"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/316363a0"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(90)90235-X"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.16.6045"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(87)45009-X"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)44870-8"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.12.4397"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(89)90477-6"},{"key":"e_1_2_1_19_1","first-page":"286","article-title":"Pyruvate dehydrogenase deficiency caused by deletion of a 7\u2010bp repeat sequence in the El\u03b1 gene","volume":"47","author":"Dahl HH\u2010M","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_20_1","first-page":"209","volume-title":"Biotechnology and Human Genetic Predisposition to Disease","author":"Dahl HH\u2010M","year":"1990"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.16.6754"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.15.5888"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198710153171603"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)71548-2"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.4071043"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/313495a0"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.3.586"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2448875"},{"key":"e_1_2_1_29_1","first-page":"10.51","volume-title":"Molecular Cloning, A Laboratory Manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.72.3.989"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_32_1","doi-asserted-by":"crossref","first-page":"11129","DOI":"10.1016\/S0021-9258(18)90631-9","article-title":"Cysteine in the triple\u2010helical domain of one allelic product of the \u03b1 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta","volume":"259","author":"Steinmann B","year":"1984","journal-title":"J Biol Chem"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2530919"},{"key":"e_1_2_1_34_1","doi-asserted-by":"crossref","first-page":"14737","DOI":"10.1016\/S0021-9258(18)47857-X","article-title":"A point mutation in a type I procollagen gene converts glycine 748 of the \u03b11 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta","volume":"262","author":"Vogel BE","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2280425"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450216","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T19:45:57Z","timestamp":1698176757000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,1,15]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1993,1,15]]}},"alternative-id":["10.1002\/ajmg.1320450216"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450216","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,1,15]]}}}