Integration of multimodal data in the developing tooth reveals candidate regulatory loci driving human odontogenic phenotypes.

ABSTRACT: Human odontogenic aberrations such as abnormal tooth number and delayed tooth eruption can occur as a symptom of rare syndromes or, more commonly, as nonsyndromic phenotypes. These phenotypes can require extensive and expensive dental treatment, posing a significant burden. While many dental phenotypes are heritable, most nonsyndromic cases have not been linked to causal genes. We demonstrate the novel finding that common sequence variants associated with human odontogenic phenotypes are enriched in developmental craniofacial enhancers conserved between human and mouse. However, the bulk nature of these samples obscures if this finding is due to the tooth itself or the surrounding tissues. We therefore sought to identify enhancers specifically active in the tooth anlagen and quantify their

SUBMITTER: Winchester EW 

PROVIDER: S-EPMC10078798 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature