Mutational spectrum of FAM83H : the C-terminal portion is required for tooth enamel calcification Communicated by Mark H. Paalman
dc.contributor.author | Lee, Sook-Kyung | en_US |
dc.contributor.author | Hu, Jan C-C. | en_US |
dc.contributor.author | Bartlett, John D. | en_US |
dc.contributor.author | Lee, Kyung-Eun | en_US |
dc.contributor.author | Lin, Brent P-J. | en_US |
dc.contributor.author | Simmer, James P. | en_US |
dc.contributor.author | Kim, Jung-Wook | en_US |
dc.date.accessioned | 2008-11-03T18:52:12Z | |
dc.date.available | 2009-10-02T17:27:37Z | en_US |
dc.date.issued | 2008-08 | en_US |
dc.identifier.citation | Lee, Sook-Kyung; Hu, Jan C-C.; Bartlett, John D.; Lee, Kyung-Eun; Lin, Brent P-J.; Simmer, James P.; Kim, Jung-Wook (2008). "Mutational spectrum of FAM83H : the C-terminal portion is required for tooth enamel calcification Communicated by Mark H. Paalman ." Human Mutation 29(8): E95-E99. <http://hdl.handle.net/2027.42/61203> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/61203 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=18484629&dopt=citation | en_US |
dc.description.abstract | Dental enamel forms through the concerted activities of specialized extracellular matrix proteins, including amelogenin, enamelin, MMP20, and KLK4. Defects in the genes encoding these proteins cause non-syndromic inherited enamel malformations collectively designated as amelogenesis imperfecta (AI). These genes, however, account for only about a quarter of all AI cases. Recently we identified mutations in FAM83H that caused autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). Unlike other genes that cause AI, FAM83 H does not encode an extracellular matrix protein. Its location inside the cell is completely unknown, as is its function. We here report novel FAM83H mutations in four kindreds with ADHCAI. All are nonsense mutations in the last exon (c.1243G>T, p.E415X; c.891T>A, p.Y297X; c.1380G>A, p.W460X; and c.2029C>T, p.Q677X). These mutations delete between 503 and 883 amino acids from the C-terminus of a protein normally comprised of 1179 residues. The reason these mutations cause such extreme defects in the enamel layer without affecting other parts of the body is not known yet. However it seems evident that the large C-terminal part of the protein is essential for proper enamel calcification. © 2008 Wiley-Liss, Inc. | en_US |
dc.format.extent | 151891 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Mutational spectrum of FAM83H : the C-terminal portion is required for tooth enamel calcification Communicated by Mark H. Paalman | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Biologic and Materials Sciences, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108 | en_US |
dc.contributor.affiliationum | Department of Biologic and Materials Sciences, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108 | en_US |
dc.contributor.affiliationother | Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea | en_US |
dc.contributor.affiliationother | Harvard-Forsyth Department of Oral Biology, Department of Cytokine Biology, The Forsyth Institute, 140 The Fenway, Boston, MA 02115 | en_US |
dc.contributor.affiliationother | Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea | en_US |
dc.contributor.affiliationother | Department of Growth and Development, University of California, San Francisco, School of Dentistry, San Francisco, CA 94143-0640 | en_US |
dc.contributor.affiliationother | Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea ; Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea ; Dental Genetics Laboratory, Department of Cell and Developmental Biology, Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea | en_US |
dc.identifier.pmid | 18484629 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/61203/1/20789_ftp.pdf | |
dc.identifier.doi | http://dx.doi.org/10.1002/humu.20789 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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