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Cloning Human Enamelin cDNA, Chromosomal Localization, and Analysis of Expression during Tooth Development

University of Texas Health Science Center at San Antonio, School of Dentistry, Department of Pediatric Dentistry, 7703 Floyd Curl Drive, San Antonio, TX 78284-7888

T.C. Hart

Section on Medical Genetics, Department of Pediatrics, Wake Forest University Medical Center, Winston Salem, NC 27157

B.R. Dupont

UTHSC-SA, School of Medicine, Department of Pathology

J.J. Chen

University of Texas Health Science Center at San Antonio, School of Dentistry, Department of Pediatric Dentistry, 7703 Floyd Curl Drive, San Antonio, TX 78284-7888

X. Sun

University of Texas Health Science Center at San Antonio, School of Dentistry, Department of Pediatric Dentistry, 7703 Floyd Curl Drive, San Antonio, TX 78284-7888

Q. Qian

University of Texas Health Science Center at San Antonio, School of Dentistry, Department of Pediatric Dentistry, 7703 Floyd Curl Drive, San Antonio, TX 78284-7888

C.H. Zhang

University of Texas Health Science Center at San Antonio, School of Dentistry, Department of Pediatric Dentistry, 7703 Floyd Curl Drive, San Antonio, TX 78284-7888

H. Jiang

University of Texas Health Science Center at San Antonio, School of Dentistry, Department of Pediatric Dentistry, 7703 Floyd Curl Drive, San Antonio, TX 78284-7888

V.L. Mattern

Cancer Therapy Research Center (CTRC), Ashford Oaks, 8122 Datapoint, San Antonio, TX 78229

J.T. Wright

UNC-Chapel Hill, School of Dentistry, Dental Research Center, Chapel Hill, NC 27599-7455

J.P. Simmer

University of Texas Health Science Center at San Antonio, School of Dentistry, Department of Pediatric Dentistry, 7703 Floyd Curl Drive, San Antonio, TX 78284-7888

Enamelin is the largest protein in the enamel matrix of developing teeth. In the pig, enamelin is secreted as 186-kDa phosphorylated glycoprotein, which is rapidly processed by enamel proteinases into smaller cleavage products. During the secretory stage of enamel formation, enamelin is found among the crystallites in the rod and interrod enamel and comprises roughly 5% of total matrix protein. Although the function of enamelin is unknown, it is thought to participate in enamel crystal nucleation and extension, and the regulation of crystal habit. Here we report the results of enamelin in situ hybridization in a day 1 mouse developing incisor that shows that enamelin is expressed by ameloblasts, but not by odontoblasts or other cells in the dental pulp. The restricted pattern of enamelin expression makes the human enamelin gene a prime candidate in the etiology of amelogenesis imperfecta (AI), a genetic disease in which defects of enamel formation occur in the absence of non-dental symptoms. We have cloned and characterized a full-length human enamelin cDNA and determined by radiation hybrid mapping and fluorescent in situ hybridization (FISH) that the gene is located on chromosome 4q near the ameloblastin gene in a region previously linked to local hypoplastic AI in six families. These findings will facilitate the search for specific mutations in the enamelin gene in kindreds suffering from amelogenesis imperfecta.

Key Words: enamel • enamelin • tooth formation • amelogenesis imperfecta • human • biomineralization

Journal of Dental Research, Vol. 79, No. 4, 912-919 (2000)
DOI: 10.1177/00220345000790040501


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