Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos

Frontiers in Physiology
Hava LichtigDale Frank

Abstract

The Additional sex combs-like (ASXL1-3) genes are linked to human neurodevelopmental disorders. The de novo truncating variants in ASXL1-3 proteins serve as the genetic basis for severe neurodevelopmental diseases such as Bohring-Opitz, Shashi-Pena, and Bainbridge-Ropers syndromes, respectively. The phenotypes of these syndromes are similar but not identical, and include dramatic craniofacial defects, microcephaly, developmental delay, and severe intellectual disability, with a loss of speech and language. Bainbridge-Ropers syndrome resulting from ASXL3 gene mutations also includes features of autism spectrum disorder. Human genomic studies also identified missense ASXL3 variants associated with autism spectrum disorder, but lacking more severe Bainbridge-Ropers syndromic features. While these findings strongly implicate ASXL3 in mammalian brain development, its functions are not clearly understood. ASXL3 protein is a component of the polycomb deubiquitinase complex that removes mono-ubiquitin from Histone H2A. Dynamic chromatin modifications play important roles in the specification of cell fates during early neural patterning and development. In this study, we utilize the frog, Xenopus laevis as a simpler and more accessible ...Continue Reading

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Citations

Aug 22, 2020·Cellular and Molecular Gastroenterology and Hepatology·Hui Joyce LiAndrew B Leiter
Jan 24, 2021·Cell Death Discovery·Aileen Patricia Szczepanski, Lu Wang
Jan 20, 2021·Development·Jaeho YoonIra O Daar

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Methods Mentioned

BETA
deubiquitination
ubiquitination
dissection

Software Mentioned

Syntezza

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