10.5061/DRYAD.8H646S0
Martinez-Abadias, Neus
Pompeu Fabra University
Barcelona Institute for Science and Technology
European Molecular Biology Laboratory
Estivill, Roger Mateu
University of Barcelona
Tomas, Jaume Sastre
University of the Balearic Islands
Perrine, Susan Motch
Pennsylvania State University
Yoon, Melissa
Pennsylvania State University
Robert-Moreno, Alex
Pennsylvania State University
Swoger, Jim
Pompeu Fabra University
Barcelona Institute for Science and Technology
European Molecular Biology Laboratory
Russo, Lucia
Pompeu Fabra University
Barcelona Institute for Science and Technology
Kawasaki, Kazuhiko
Pennsylvania State University
Richtsmeier, Joan
Pennsylvania State University
Sharpe, James
Pompeu Fabra University
Barcelona Institute for Science and Technology
European Molecular Biology Laboratory
Robert-Moreno, Alexandre
Pompeu Fabra University
Barcelona Institute for Science and Technology
European Molecular Biology Laboratory
Data from: Quantification of gene expression patterns to reveal the
origins of abnormal morphogenesis
Dryad
dataset
2018
Limb development
Mus musculus
gene expression pattern
Apert syndrome
Dusp6
2018-09-21T15:47:09Z
2018-09-21T15:47:09Z
en
https://doi.org/10.7554/elife.36405
71444130 bytes
1
CC0 1.0 Universal (CC0 1.0) Public Domain Dedication
The earliest developmental origins of dysmorphologies are poorly
understood in many congenital diseases. They often remain elusive because
the first signs of genetic misregulation may initiate as subtle changes in
gene expression, which are hard to detect and can be obscured later in
development by secondary effects. Here, we develop a method to trace the
origins of phenotypic abnormalities by accurately quantifying the 3D
spatial distribution of gene expression domains in developing organs. By
applying geometric morphometrics to 3D gene expression data obtained by
Optical Projection Tomography, we determined that our approach is
sensitive enough to find regulatory abnormalities that have never been
detected previously. We identified subtle but significant differences in
the gene expression of a downstream target of the Fgfr2 mutation that were
associated with Apert syndrome, demonstrating that these mouse models can
further our understanding of limb defects in the human condition. Our
method can be applied to different organ systems and models to investigate
the etiology of malformations.
Reconstructions of embryonic limbs and Dusp6 gene expression domains from
OPT scans of Apert syndrome mouse models.This zip folder contains the
surface files (.stl) of the limbs and the Dusp6 gene expression domains
obtained from OPT scanning mouse embryos of Apert syndrome mouse models at
E10.5 and E11.5. Surface files are grouped into forelimbs and hindlimbs of
Early, Mid and Late developmental periods as specified in Table 2.Source
data_Martínez-Abadías et al 2018.zip