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Data release: SHH expression in the Frontonasal Ectodermal Zone | FaceBase

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Data release: SHH expression in the Frontonasal Ectodermal Zone

Published 21 May 2025

We are excited to announce a new data release from a PLOS Genetics paper on SHH expression in the Frontonasal Ectodermal Zone that depicts a new enhancer element!

PBX1 and PBX3 transcription factors regulate SHH expression in the Frontonasal Ectodermal Zone through complementary mechanisms Principal Investigators: Licia Selleri and Ralph S. Marcucio (University of California, San Francisco)

Citation: 

Mok CH, Hu D, Losa M, Risolino M, Selleri L, Marcucio RS (2025) PBX1 and PBX3 transcription factors regulate SHH expression in the Frontonasal Ectodermal Zone through complementary mechanisms. PLoS Genet 21(5): e1011315. https://doi.org/10.1371/journal.pgen.1011315

FaceBase Dataset:

Description:

Facial development is orchestrated by complex molecular interactions among signaling molecules and transcription factors, a class of proteins that regulate gene expression. Disruption of these interactions can lead to congenital facial malformations, affecting the lives of patients and their families. Understanding the molecular basis of these interactions during embryonic facial development will provide key insights into the origin of these disorders and may ultimately provide novel therapeutic targets. SHH is one of the key genes encoding a signaling molecule that regulates facial development. During early embryonic development, SHH is expressed in a signaling center in the surface cell layer that covers part of the face. This signaling center regulates proliferation to control proper outgrowth of the upper jaw. In the present study, we demonstrated that PBX1 and PBX3 transcription factors control expression of SHH at the molecular level. We identified a DNA element, SFE1, located in a regulatory region of the SHH locus. SFE1 induces SHH transcription when associated with PBX1 and represses transcription when associated with PBX3. These findings highlight the intricate molecular mechanisms underlying regulation of SHH expression and advance current knowledge of the regulatory pathways that control midfacial development.

Figure from publication the location of SFE1, a new enhancer element that we identified from this study This figure was generated from the ChIP-seq and ATAC-seq data in this study, submitted to FaceBase, and it shows the location of SFE1, a new enhancer element that we identified from this study.