Human developing enamel proteins exhibit a sex-linked dimorphism

Fincham, Alan G.; Bessem, Conny; Lau, Eduardo C.; Pavlova, Zdena; Shuler, Charles F.; Slavkin, Harold C.; Snead, Malcolm L.

doi:10.1007/bf02556382

Cited by 54 publications

(37 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Therefore, amelogenin protein heterogeneity arises from not only proteolysis but also from multiple mRNAs because of both alternative splicing and Y-chromosomal amelogenin gene transcription in human males. The nonidentical gene on the human Y chromosome is thought to contribute ϳ10% amelogenin transcripts and presumably proteins (11,39,40).…”

Section: Discussionmentioning

confidence: 99%

Amelogenin-deficient Mice Display an Amelogenesis Imperfecta Phenotype

Gibson

Yuan

Hall

et al. 2001

Journal of Biological Chemistry

433

448

View full text Add to dashboard Cite

Dental enamel is the hardest tissue in the body and cannot be replaced or repaired, because the enamel secreting cells are lost at tooth eruption. X-linked amelogenesis imperfecta (MIM 301200), a phenotypically diverse hereditary disorder affecting enamel development, is caused by deletions or point mutations in the human Xchromosomal amelogenin gene. Although the precise functions of the amelogenin proteins in enamel formation are not well defined, these proteins constitute 90% of the enamel organic matrix. We have disrupted the amelogenin locus to generate amelogenin null mice, which display distinctly abnormal teeth as early as 2 weeks of age with chalky-white discoloration. Microradiography revealed broken tips of incisors and molars and scanning electron microscopy analysis indicated disorganized hypoplastic enamel. The amelogenin null phenotype reveals that the amelogenins are apparently not required for initiation of mineral crystal formation but rather for the organization of crystal pattern and regulation of enamel thickness. These null mice will be useful for understanding the functions of amelogenin proteins during enamel formation and for developing therapeutic approaches for treating this developmental defect that affects the enamel.

show abstract

Section: Discussionmentioning

confidence: 99%

Amelogenin-deficient Mice Display an Amelogenesis Imperfecta Phenotype

Gibson

Yuan

Hall

et al. 2001

Journal of Biological Chemistry

433

448

View full text Add to dashboard Cite

show abstract

“…However, the finding is consistent with studies of individuals with chromosomal abnormalities <e.g., Alvesalo et at., 1991), implying that human sex chromosomes influence the thickness of dental aowns, and also with recent molecular genetic investigations (Lau et at., 1989;Nakahori et at, 1991;Salido et at., 1992) showing that genes on the human sex chromosomes influence enamel formation. It has been hypothesized further that sequence differences between the genes on X and Y chromosomes contnbute to the observed sexual dimorphism in tooth size (Lau et at, 1990;Fmcham et at, 1991). In addition to a general genetic factor, there were additive genetic influences on antimeric pairs of teeth, and unique environmental factors operating on eac}1 "lOth, and on the eight incisors.as a group.…”

Section: Multivariate Analysesmentioning

confidence: 99%

Genetic Covariance Structure of Incisor Crown Size in Twins

et al. 1995

View full text Add to dashboard Cite

Abstract. Previous studies of tooth size in twins and their families have suggested a high degree of genetic control, although there have been difficulties separating the various genetic and environmental effects. A genetic analysis of variation in crown size of the permanent incisors of South Australian twins was carried out, with structural equation modeling used to determine the relative contributions of genetic and environmental factors. Maximum mesiodistal crown dimensions of maxillary and mandibular permanent incisors were recorded from dental models of 298 pairs of twins, including 149 monozygous (MZ) and 149 dizygous (DZ) pairs. The analysis revealed that: (i) an adequate fit required additive genetic and unique environmental components; (ii) augmenting the model with non-additive genetic variation did not lead to a Significant improvement in fit; (iii) there was evidence of shared environmental influences in the upper central incisors of males; (iv) the additive genetic component constituted a general factor loading on all eight teeth, with group factors loading on antimeric pairs of teeth; (v) unique environmental effects were mostly variable-specific; (vi) most factor loadings on antimeric tooth pairs could be constrained to be equal, indicating a symmetry of genetic and environmental influences between left and right sides; and (vii) estimated heritability of the incisor mesiodistal dimensions varied from 0.81 to 0.91.

show abstract

“…The mouse amelogenin gene is mapped to the X chromosome ( Lau et al, 1989;Fincham et al, 1991), while in the human it maps to Xp22.1-p22.3 and Yp11.2 chromosomes (Lau et al, 1989;Salido et al, 1992). The gene contains 9 exons ( Li et al, 1998;Baba et al, 2002) which undergo extensive alternative mRNA splicing (Simmer and Fincham, 1995;Veis, 2003;Papagerakis et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

Amelogenin in cranio‐facial development: the tooth as a model to study the role of amelogenin during embryogenesis

et al. 2008

View full text Add to dashboard Cite

The amelogenins comprise 90% of the developing extracellular enamel matrix proteins and play a major role in the biomineralization and structural organization of enamel. Amelogenins were also detected, in smaller amounts, in postnatal calcifying mesenchymal tissues, and in several nonmineralizing tissues including brain. Low molecular mass amelogenin isoforms were suggested to have signaling activity; to produce ectopically chondrogenic and osteogenic‐like tissue and to affect mouse tooth germ differentiation in vitro. Recently, some amelogenin isoforms were found to bind to the cell surface receptors; LAMP‐1, LAMP‐2 and CD63, and subsequently localize to the perinuclear region of the cell. The recombinant amelogenin protein (rHAM+) alone brought about regeneration of the tooth supporting tissues: cementum, periodontal ligament and alveolar bone, in the dog model, through recruitment of progenitor cells and mesenchymal stem cells.We show that amelogenin is expressed in various tissues of the developing mouse embryonic cranio‐facial complex such as brain, eye, ganglia, peripheral nerve trunks, cartilage and bone, and is already expressed at E10.5 in the brain and eye, long before the initiation of tooth formation. Amelogenin protein expression was detected in the tooth germ (dental lamina) already at E13.5, much earlier than previously reported (E19). Application of amelogenin (rHAM+) beads together with DiI, on E13.5 and E14.5 embryonic mandibular mesenchyme and on embryonic tooth germ, revealed recruitment of mesenchymal cells. The present results indicate that amelogenin has an important role in many tissues of the cranio‐facial complex during mouse embryonic development and differentiation, and might be a multifunctional protein. J. Exp. Zool. (Mol. Dev. Evol.) 312B:445–457, 2009. © 2008 Wiley‐Liss, Inc.

show abstract

Human developing enamel proteins exhibit a sex-linked dimorphism

Cited by 54 publications

References 19 publications

Amelogenin-deficient Mice Display an Amelogenesis Imperfecta Phenotype

Amelogenin-deficient Mice Display an Amelogenesis Imperfecta Phenotype

Genetic Covariance Structure of Incisor Crown Size in Twins

Amelogenin in cranio‐facial development: the tooth as a model to study the role of amelogenin during embryogenesis

Contact Info

Product

Resources

About