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Phenotypes

Mouse phenotype:

short tibia, increased circulating aspartate transaminase level

Subcellular localization

cilia, Nucleoplasm, Nucleoli, Golgi apparatus, Vesicles

Function

We observed that chromatin regulators CHD8, CHD2, and POGZ, as well as synaptic protein SYNGAP1, not only localized to cilia, but were required for their formation. Human GFP-tagged constructs for autism-associated transcription factors SATB2 and RFX3 (green) localize to the nucleus (inset, deeper z-plane) and do not localize to motile cilia, while GFP-tagged constructs for autism-associated chromatin regulators ADNP, CHD8, CHD2, and POGZ do localize to motile cilia (labeled by acetylated alpha-Tubulin, magenta, basal bodies labeled by Centrin-CFP, cyan) when expressed in the X. laevis embryonic epidermis(39677731).