Patterning of the antero-ventral mammalian brain: Lessons from holoprosencephaly comparative biology in man and mouse.
antero-ventral
axial mesendoderm
forebrain
middle interhemispheric
prechordal plate
Journal
WIREs mechanisms of disease
ISSN: 2692-9368
Titre abrégé: WIREs Mech Dis
Pays: United States
ID NLM: 9918227353306676
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
revised:
30
11
2021
received:
14
09
2021
accepted:
21
12
2021
pubmed:
10
2
2022
medline:
16
7
2022
entrez:
9
2
2022
Statut:
ppublish
Résumé
Adult form and function are dependent upon the activity of specialized signaling centers that act early in development at the embryonic midline. These centers instruct the surrounding cells to adopt a positional fate and to form the patterned structures of the phylotypic embryo. Abnormalities in these processes have devastating consequences for the individual, as exemplified by holoprosencephaly in which anterior midline development fails, leading to structural defects of the brain and/or face. In the 25 years since the first association between human holoprosencephaly and the sonic hedgehog gene, a combination of human and animal genetic studies have enhanced our understanding of the genetic and embryonic causation of this congenital defect. Comparative biology has extended the holoprosencephaly network via the inclusion of gene mutations from multiple signaling pathways known to be required for anterior midline formation. It has also clarified aspects of holoprosencephaly causation, showing that it arises when a deleterious variant is present within a permissive genome, and that environmental factors, as well as embryonic stochasticity, influence the phenotypic outcome of the variant. More than two decades of research can now be distilled into a framework of embryonic and genetic causation. This framework means we are poised to move beyond our current understanding of variants in signaling pathway molecules. The challenges now at the forefront of holoprosencephaly research include deciphering how the mutation of genes involved in basic cell processes can also cause holoprosencephaly, determining the important constituents of the holoprosencephaly permissive genome, and identifying environmental compounds that promote holoprosencephaly. This article is categorized under: Congenital Diseases > Stem Cells and Development Congenital Diseases > Genetics/Genomics/Epigenetics Congenital Diseases > Molecular and Cellular Physiology Congenital Diseases > Environmental Factors.
Substances chimiques
Hedgehog Proteins
0
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1552Informations de copyright
© 2022 Wiley Periodicals LLC.
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