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Fam83h is Associated with Intracellular Vesicles and ADHCAI

¹ Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, 1011 N. University, Ann Arbor, MI 48109-1078, USA;
² Department of Stomatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Avenue, Wuhan, Hubei 430022, China;
³ Department of Orthodontics and Pediatric Dentistry, University of Michigan School of Dentistry, Ann Arbor, MI, USA; and
⁴ 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

Correspondence: ^* University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA, janhu{at}umich.edu

Defects in FAM83H on human chromosome 8q24.3 cause autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI). FAM83H does not encode a recognizable signal peptide, so we predicted that the Fam83h protein functions within the cell. We tested this hypothesis by constitutively expressing mouse Fam83h with green fluorescent protein (GFP) fused to its C-terminus in HEK293 and HeLa cell lines. Green fluorescent signal from the Fam83h-GFP fusion protein was associated with perinuclear vesicles, usually in the vicinity of the Golgi apparatus. No signal was observed within the nucleus. In addition, we identified FAM83H nonsense mutations in Hispanic (C1330C>T; p.Q444X) and Caucasian (c.1192C>T; p.Q398X) families with ADHCAI. We conclude that Fam83h localizes in the intracellular environment, is associated with vesicles, and plays an important role in dental enamel formation. FAM83H is the first gene involved in the etiology of amelogenesis imperfecta (AI) that does not encode a secreted protein.

Key Words: ADHCAI • Golgi • enamel • tooth • amelogenesis imperfecta

Journal of Dental Research, Vol. 88, No. 11, 991-996 (2009)
DOI: 10.1177/0022034509349454


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