What is CNOT3?

What is CNOT3?

Recent evidence has suggested that a subunit of the CCR4-NOT complex, CNOT3, plays critical roles in several biological events, including oogenesis, self-renewal of embryonic stem cells, heart function, energy metabolism and bone formation13,14,15,38,39,40,41.

What level of gene expression is regulated by CNOT3?

Cnot3 posttranscriptionally regulates cyclin-dependent kinase inhibitors (CDKIs) expression.

What level of gene expression is being regulated by the CNOT3 protein and briefly explain why?

CNOT3 Negatively Regulates Differentiation Gene Expression Because the Ccr4-Not complex regulates mRNA deadenylation, we hypothesize that CNOT3 may regulate the gene expression program in pluripotent cells post-transcriptionally.

Which de novo variants of the CNOT3 gene are associated with DDD?

Of the seven cases with de novo variants in the CNOT3 gene from the DDD cohort, four (DECIPHER IDs 257816, 259521, 262450, and 263217) were reported to have the Human Phenotype Ontology (HPO) term “Autism spectrum disorder”.

What are recurrent HPO terms used in CNOT3 variants?

Other recurrent HPO terms used in cases with CNOT3 variants were abnormal axial skeleton morphology and global developmental delay. A de novo frameshift variant in CNOT3 had previously been observed in an ASD proband from the Simons Simplex Collection (O’Roak et al., 2012).

What do we know about the second de novo frameshift variant in CNOT3?

A second de novo frameshift variant in CNOT3 was identified in an ASD proband from a simplex family from the ASD: Genomes to Outcome Study cohort by whole genome sequencing as part of the MSSNG initiative in Yuen et al., 2017.