PUBLICATION

An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates

Authors
Carroll, S.H., Macias Trevino, C., Li, E.B., Kawasaki, K., Myers, N., Hallett, S.A., Alhazmi, N., Cotney, J., Carstens, R.P., Liao, E.C.
ID
ZDB-PUB-201126-5
Date
2020
Source
Development (Cambridge, England)   147(24): (Journal)
Registered Authors
Liao, Eric
Keywords
Cleft, Craniofacial, Development, ESRP1, IRF6
Datasets
GEO:GSE153828
MeSH Terms
  • Epithelium/growth & development
  • Gene Expression Regulation, Developmental/genetics
  • Humans
  • RNA-Binding Proteins/genetics*
  • Zebrafish Proteins/genetics
  • Maxillofacial Development/genetics*
  • Zebrafish
  • Animals
  • Morphogenesis/genetics*
  • Mutation/genetics
  • SOXE Transcription Factors/genetics
  • Ectoderm/growth & development
  • Ectoderm/metabolism
  • Neural Crest/growth & development
  • Interferon Regulatory Factors/genetics*
  • Mice
(all 16)
PubMed
33234718 Full text @ Development
Abstract
Irf6 and Esrp1 are important for palate development across vertebrates. In zebrafish, we found that irf6 regulates the expression of esrp1 We detailed overlapping Irf6 and Esrp1/2 expression in mouse orofacial epithelium. In zebrafish, irf6 and esrp1/2 share expression in periderm, frontonasal ectoderm, and oral epithelium. Genetic disruption of irf6 and esrp1/2 in zebrafish resulted in cleft of the anterior neurocranium. The esrp1/2 mutant also developed cleft of the mouth opening. Lineage tracing of cranial neural crest cells revealed that cleft resulted not from migration defect, but from impaired chondrogenesis. Analysis of aberrant cells within the cleft revealed expression of sox10, col1a1 and irf6 and were adjacent to cells krt4 and krt5 positive. Breeding of mouse Irf6;Esrp1;Esrp2 compound mutants suggested genetic interaction, as the triple homozygote and the Irf6;Esrp1 double homozygote was not observed. Further, Irf6 heterozygosity reduced Esrp1/2 cleft severity. These studies highlight the complementary analysis of Irf6 and Esrp1/2 in mouse and zebrafish and captured a unique aberrant cell population expressing sox10, col1a1 and irf6 Future work characterizing this cell population will yield additional insight into cleft pathogenesis.
Genes / Markers
Figures
Figure Gallery (10 images)
Show all Figures
Expression
Phenotype
Fish Conditions Stage Phenotype Figure
TU + MO1-esrp2 + MO2-esrp1standard conditionsDay 4
TU + MO1-esrp2 + MO2-esrp1standard conditionsDay 4
esrp1fb401/fb401 (TU)standard conditionsDay 4
esrp1fb401/fb401 (TU)standard conditionsDay 4
esrp1fb401/fb401 + MO1-esrp2 (TU)standard conditionsDay 4
esrp1fb401/fb401 + MO1-esrp2 (TU)standard conditionsDay 4
esrp1fb401/fb401; esrp2fb402/fb402 (TU)standard conditionsDay 4
esrp1fb401/fb401; esrp2fb402/fb402 (TU)standard conditionsDay 4
esrp1fb401/fb401; esrp2fb402/fb402 (TU)standard conditionsDay 4
esrp1fb401/fb401; esrp2fb402/fb402 (TU)standard conditionsDay 4
1 - 10 of 38
Show
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
fb401
    		Small Deletion
    fb402
      		Small Deletion
      zf393TgTransgenic Insertion
        zf2064
          		Small Deletion
          1 - 4 of 4
          Show
          Human Disease / Model
          No data available
          Sequence Targeting Reagents
          Target Reagent Reagent Type
          esrp1CRISPR3-esrp1CRISPR
          esrp1MO2-esrp1MRPHLNO
          esrp2CRISPR2-esrp2CRISPR
          esrp2CRISPR3-esrp2CRISPR
          esrp2MO1-esrp2MRPHLNO
          1 - 5 of 5
          Show
          Fish
          Fish
          esrp1fb401/fb401; esrp2fb402/fb402 (TU)
          esrp1fb401/fb401; esrp2fb402/fb402; zf393Tg (TU)
          esrp1fb401/fb401 + MO1-esrp2 (TU)
          esrp1fb401/fb401 (TU)
          esrp2fb402/fb402 (TU)
          irf6zf2064/zf2064 (TU)
          TU
          TU + MO1-esrp2 + MO2-esrp1
          zf393Tg + MO1-esrp2 + MO2-esrp1 (TU)
          zf393Tg (TU)
          1 - 10 of 10
          Show
          Antibodies
          No data available
          Orthology
          No data available
          Engineered Foreign Genes
          Marker Marker Type Name
          KaedeEFGKaede
          1 - 1 of 1
          Show
          Mapping
          No data available
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          Citation
          Carroll, S.H., Macias Trevino, C., Li, E.B., Kawasaki, K., Myers, N., Hallett, S.A., Alhazmi, N., Cotney, J., Carstens, R.P., Liao, E.C. (2020) An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates. Development (Cambridge, England). 147(24):.