The human KROX-26/ZNF22 gene is expressed at sites of tooth formation and maps to the locus for permanent tooth agenesis (He-Zhao deficiency).

Tooth development is mediated by sequential and reciprocal interactions between dental epithelium and mesenchyme under the molecular control of secreted growth factors and responsive transcription factors. We have previously identified the transcription factor Krox-26 as a potential regulator of tooth formation in mice. The purpose of this study was to investigate a potentially similar role for the human KROX-26 orthologue. We cloned the KROX-26 gene and found its single mRNA transcript (2.4 kb) to be expressed in multiple adult tissues. During fetal development, KROX-26 is expressed in the epithelial component of the developing tooth organ during early bud and cap stages as well as in osteoblasts of craniofacial bone and the developing tongue. The KROX-26 gene was mapped to chromosome 10q11.21, a locus that has been associated with permanent tooth agenesis (He-Zhao deficiency). These results indicate a potential function for KROX-26 in the molecular regulation of tooth formation in humans.

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