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Mutation in APC2 gene causes Sotos features

is a congenital syndrome that is characterized by varying degrees of and a large head circumference etc. It is known that 90% of have mutations in the NSD1 gene. This time, an has revealed that mutation in the symptoms of Sotos syndrome related to the nervous system, from analyses of the Apc2-knockout mouse. They also showed that the APC2 gene is a crucial downstream gene of the NSD1 gene. The results of this work are published in the journal Cell Reports.

NSD1 Knockdown
This image shows the effects of NSD1 knockdown on migration of cortical neurons.
Credit: © NIBB


National Institutes of Natural Sciences