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Single-cell RNA-seq identifies a reversible epithelial-mesenchymal transition in abnormally specified epithelia of p63 EEC syndrome

Eduardo Soares, Quan Xu, Qingqing Li, Jieqiong Qu, Yuxuan Zheng, Hetty H. M. Raeven, Karina Brandao, Isabelle Petit, Willem M.R. van den Akker, Daniel Aberdam, Fuchou Tang, View ORCID ProfileHuiqing Zhou
doi: https://doi.org/10.1101/437632
Eduardo Soares
Radboud University;
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Quan Xu
Radboud University;
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Qingqing Li
Peking University;
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Jieqiong Qu
Radboud University;
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Yuxuan Zheng
Peking University;
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Hetty H. M. Raeven
Radboud University;
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Karina Brandao
Radboud University;
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Isabelle Petit
INSERM U976, Hospital Saint-Louis, Paris, France
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Willem M.R. van den Akker
Radboud University;
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Daniel Aberdam
INSERM U976, Hospital Saint-Louis, Paris, France
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Fuchou Tang
Peking University;
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Huiqing Zhou
Radboud University;
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  • ORCID record for Huiqing Zhou
  • For correspondence: j.zhou@science.ru.nl
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Abstract

Mutations in transcription factor p63 are associated with developmental disorders that manifest defects in stratified epithelia including the epidermis. We established an epidermal commitment model using human induced pluripotent stem cells (iPSCs) and characterized differentiation defects of iPSCs derived from ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome patients carrying p63 mutations. Transcriptome analyses revealed distinct cell fates during epidermal commitment: multipotent simple epithelial, basal stratified epithelial and mature epidermal fates. Differentiation defects of EEC iPSCs caused by mutant p63 occurred during the specification switch from the simple epithelium to the basal stratified epithelial fate. Single-cell transcriptome and pseudotime analyses identified signatures of embryonic epithelial-mesenchymal transition (EMT) associated with the deviated commitment route of EEC iPSCs. Repressing mesodermal activation reversed the EMT and enhanced epidermal commitment. Our findings demonstrate that p63 is required for specification of stratified epithelia, probably by repressing embryonic EMT during epidermal commitment. This study provides insights into disease mechanisms underlying stratified epithelial defects caused by p63 mutations.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted January 20, 2019.
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Single-cell RNA-seq identifies a reversible epithelial-mesenchymal transition in abnormally specified epithelia of p63 EEC syndrome
Eduardo Soares, Quan Xu, Qingqing Li, Jieqiong Qu, Yuxuan Zheng, Hetty H. M. Raeven, Karina Brandao, Isabelle Petit, Willem M.R. van den Akker, Daniel Aberdam, Fuchou Tang, Huiqing Zhou
bioRxiv 437632; doi: https://doi.org/10.1101/437632
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Single-cell RNA-seq identifies a reversible epithelial-mesenchymal transition in abnormally specified epithelia of p63 EEC syndrome
Eduardo Soares, Quan Xu, Qingqing Li, Jieqiong Qu, Yuxuan Zheng, Hetty H. M. Raeven, Karina Brandao, Isabelle Petit, Willem M.R. van den Akker, Daniel Aberdam, Fuchou Tang, Huiqing Zhou
bioRxiv 437632; doi: https://doi.org/10.1101/437632

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