Publication: The contribution of GTF2I haploinsufficiency to Williams syndrome
Issued Date
2018-08-01
Resource Type
ISSN
10961194
08908508
08908508
Other identifier(s)
2-s2.0-85040081917
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Molecular and Cellular Probes. Vol.40, (2018), 45-51
Suggested Citation
Thanathom Chailangkarn, Chalongrat Noree, Alysson R. Muotri The contribution of GTF2I haploinsufficiency to Williams syndrome. Molecular and Cellular Probes. Vol.40, (2018), 45-51. doi:10.1016/j.mcp.2017.12.005 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/45099
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
The contribution of GTF2I haploinsufficiency to Williams syndrome
Abstract
© 2018 Elsevier Ltd Williams syndrome (WS) is a neurodevelopmental disorder involving hemideletion of as many as 26–28 genes, resulting in a constellation of unique physical, cognitive and behavior phenotypes. The haploinsufficiency effect of each gene has been studied and correlated with phenotype(s) using several models including WS subjects, animal models, and peripheral cell lines. However, links for most of the genes to WS phenotypes remains unclear. Among those genes, general transcription factor 2I (GTF2I) is of particular interest as its haploinsufficiency is possibly associated with hypersociability in WS. Here, we describe studies of atypical WS cases as well as mouse models focusing on GTF2I that support a role for this protein in the neurocognitive and behavioral profiles of WS individuals. We also review collective studies on diverse molecular functions of GTF2I that may provide mechanistic explanation for phenotypes recently reported in our relevant cellular model, namely WS induced pluripotent stem cell (iPSC)-derived neurons. Finally, in light of the progress in gene-manipulating approaches, we suggest their uses in revealing the neural functions of GTF2I in the context of WS.