Abstract

How does a 1.5-Fold Increase in Gene Dosage in Chromosome 21 Causes the Pleiotropic Phenotypes in Down Syndrome?

Highlights

  • Amplifying the effects of their 1.5-fold gene dosage in HSA21

  • The nuclear factor one (NFI)-regulated developmental switch program controls the expression of several groups of genes during the postnatal development in the cerebellum

  • A recent genome-wide analysis of DYRK1A-associated loci reveals that the kinase is recruited preferentially to the promoters of genes actively transcribed by RNA polymerase II (RNAPII), which is functionally associated with translation, RNA processing, and the cell cycle

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Summary

Introduction

Amplifying the effects of their 1.5-fold gene dosage in HSA21. The cooperative actions of DYRK1A and DSCR1 have been shown to suppress NFAT activity in neural progenitors, leading to a delay in neuronal differentiation and the alteration of their laminar fate [9]. The NFAT family of transcription factors could function to directly promote gene expression via binding the consensus sequence at target gene promoter region.

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Conclusion

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