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ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology.
- Source :
-
Advances in experimental medicine and biology [Adv Exp Med Biol] 2018; Vol. 1046, pp. 249-268. - Publication Year :
- 2018
-
Abstract
- Zic genes are strongly expressed in the cerebellum. This feature leads to their initial identification and their name "zic," as the abbreviation of "zinc finger protein of the cerebellum." Zic gene function in cerebellar development has been investigated mainly in mice. However, association of heterozygous loss of ZIC1 and ZIC4 with Dandy-Walker malformation, a structural birth defect of the human cerebellum, highlights the clinical relevance of these studies. Two proposed mechanisms for Zic-mediated cerebellar developmental control have been documented: regulation of neuronal progenitor proliferation-differentiation and the patterning of the cerebellar primordium. Clinical studies have also revealed that ZIC1 gain of function mutations contribute to coronal craniosynostosis, a rare skull malformation. The molecular pathways contributing to these phenotypes are not fully explored; however, embryonic interactions with sonic hedgehog signaling, retinoic acid signaling, and TGFβ signaling have been described during mouse cerebellar development. Further, Zic1/2 target a multitude of genes associated with cerebellar granule cell maturation during postnatal mouse cerebellar development.
- Subjects :
- Animals
Humans
Mice
Nerve Tissue Proteins genetics
Nerve Tissue Proteins metabolism
Cerebellum growth & development
Cerebellum physiology
Craniosynostoses genetics
Craniosynostoses metabolism
Craniosynostoses pathology
Dandy-Walker Syndrome genetics
Dandy-Walker Syndrome metabolism
Dandy-Walker Syndrome pathology
Neural Stem Cells metabolism
Neural Stem Cells pathology
Signal Transduction genetics
Transcription Factors genetics
Transcription Factors metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 0065-2598
- Volume :
- 1046
- Database :
- MEDLINE
- Journal :
- Advances in experimental medicine and biology
- Publication Type :
- Academic Journal
- Accession number :
- 29442326
- Full Text :
- https://doi.org/10.1007/978-981-10-7311-3_13