{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T07:18:53Z","timestamp":1773386333166,"version":"3.50.1"},"reference-count":54,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,7]],"date-time":"2015-09-07T00:00:00Z","timestamp":1441584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004085","name":"Ministry of Education, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004085","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nonsyndromic dentin defects classified as type <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> dentin dysplasia and types <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content> dentinogenesis imperfecta are caused by mutations in <jats:italic><jats:styled-content style=\"fixed-case\">DSPP<\/jats:styled-content><\/jats:italic> (dentin sialophosphoprotein). Most reported disease\u2010causing <jats:italic><jats:styled-content style=\"fixed-case\">DSPP<\/jats:styled-content><\/jats:italic> mutations occur within the repetitive <jats:styled-content style=\"fixed-case\">DPP<\/jats:styled-content> (dentin phosphoprotein) coding sequence. We characterized the <jats:styled-content style=\"fixed-case\">DPP<\/jats:styled-content> sequences of five probands with inherited dentin defects using single molecule real\u2010time (<jats:styled-content style=\"fixed-case\">SMRT<\/jats:styled-content>) <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing. Eight of the 10 sequences matched previously reported <jats:styled-content style=\"fixed-case\">DPP<\/jats:styled-content> length haplotypes and two were novel. Alignment with known <jats:styled-content style=\"fixed-case\">DPP<\/jats:styled-content> sequences showed 32 indels arranged in 36 different patterns. Sixteen of the 32 indels were not represented in more than one haplotype. The 25 haplotypes with confirmed indels were aligned to generate a tree that describes how the length variations might have evolved. Some indels were independently generated in multiple lines. A previously reported disease\u2010causing <jats:italic><jats:styled-content style=\"fixed-case\">DSPP<\/jats:styled-content><\/jats:italic> mutation in Family 1 was confirmed and its position clarified (c.3135delC; p.Ser1045Argfs*269). A novel frameshift mutation (c.3504_3508dup; p.Asp1170Alafs*146) caused the dentin defects in Family 2. A <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>1A2<\/jats:italic> (c.2027G&gt;A or p.Gly676Asp) missense mutation, discovered by whole\u2010exome sequencing, caused the dentin defects in Family 3. We conclude that <jats:styled-content style=\"fixed-case\">SMRT<\/jats:styled-content> sequencing characterizes the <jats:styled-content style=\"fixed-case\">DPP<\/jats:styled-content> repeat region without cloning and can improve our understanding of normal and pathological length variations in <jats:italic><jats:styled-content style=\"fixed-case\">DSPP<\/jats:styled-content><\/jats:italic> alleles.<\/jats:p>","DOI":"10.1002\/mgg3.176","type":"journal-article","created":{"date-parts":[[2015,9,8]],"date-time":"2015-09-08T01:13:09Z","timestamp":1441674789000},"page":"28-38","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["The dentin phosphoprotein repeat region and inherited defects of dentin"],"prefix":"10.1002","volume":"4","author":[{"given":"Jie","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry 1210 Eisenhower Place Ann Arbor Michigan"},{"name":"Department of Pediatric Dentistry School and Hospital of Stomatology Peking University 22 South Avenue Zhongguancun Haidian District Beijing 100081 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"Department of Anthropology Pennsylvania State University University Park Pennsylvania 16802"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moses","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Seoul National University College of Medicine 275\u20101 Yongon\u2010dong, Chongno\u2010gu Seoul 110\u2010768 Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan M.","family":"Reid","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry 1210 Eisenhower Place Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie M.","family":"Nunez","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences University of Michigan School of Dentistry 1210 Eisenhower Place Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murim","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Seoul National University College of Medicine 275\u20101 Yongon\u2010dong, Chongno\u2010gu Seoul 110\u2010768 Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Figen","family":"Seymen","sequence":"additional","affiliation":[{"name":"Department of Pedodontics Faculty of Dentistry Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mine","family":"Koruyucu","sequence":"additional","affiliation":[{"name":"Department of Pedodontics Faculty of Dentistry Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yelda","family":"Kasimoglu","sequence":"additional","affiliation":[{"name":"Department of Pedodontics Faculty of Dentistry Istanbul University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ninna","family":"Estrella\u2010Yuson","sequence":"additional","affiliation":[{"name":"Department of Paediatric Dentistry Women's and Children's Hospital 72 King William Road North Adelaide South Australia 5006 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brent P. 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