PUBLICATION
Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma
- Authors
- Gongal, P.A., French, C.R., and Waskiewicz, A.J.
- ID
- ZDB-PUB-101004-17
- Date
- 2011
- Source
- Biochimica et biophysica acta. Molecular basis of disease 1812(3): 390-401 (Review)
- Registered Authors
- Waskiewicz, Andrew
- Keywords
- Holoprosencephaly, Coloboma, Sonic hedgehog, Forebrain, Gdf6, Retinoic acid, Retina, Zebrafish, Patterning, Birth defect
- MeSH Terms
-
- Animals
- Coloboma/etiology*
- Coloboma/metabolism
- Coloboma/pathology
- Disease Models, Animal
- Gene Expression Regulation, Developmental*
- Holoprosencephaly/etiology*
- Holoprosencephaly/metabolism
- Holoprosencephaly/pathology
- Humans
- Prosencephalon/abnormalities*
- Prosencephalon/embryology
- Prosencephalon/metabolism*
- Signal Transduction*
- Zebrafish/embryology
- Zebrafish/genetics
- Zebrafish/metabolism
- PubMed
- 20850526 Full text @ BBA Molecular Basis of Disease
Citation
Gongal, P.A., French, C.R., and Waskiewicz, A.J. (2011) Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma. Biochimica et biophysica acta. Molecular basis of disease. 1812(3):390-401.
Abstract
In this review, we highlight recent literature concerning the signaling mechanisms underlying the development of two neural birth defects, holoprosencephaly and coloboma. Holoprosencephaly, the most common forebrain defect, occurs when the cerebral hemisphere fails to separate and typically associated with mispatterning of embryonic midline tissue. Coloboma results when the choroid fissure in the eye fails to close. It is clear that Sonic hedgehog signaling regulates both forebrain and eye development with defects in Shh, or components of the Shh signaling cascade leading to the generation of both birth defects. In addition, other intercellular signaling pathways are known factors in the incidence of holoprosencephaly and coloboma. This review will outline recent advances in our understanding of forebrain and eye embryonic pattern formation, with a focus on zebrafish studies of Shh and retinoic acid pathways. Given the clear overlap in the mechanisms that generate both diseases, we propose that holoprosencephaly and coloboma can represent mild and severe aspects of single phenotypic spectrum resulting from aberrant forebrain development.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping