16 Questions
Which of the following is an outcome of the reciprocal genomic disorder involving chromosome 16p11.2 copy-number variants (CNVs)?
Intellectual disability, autism spectrum disorder (ASD), and schizophrenia
Which of the following statements is supported by the transcriptome profiling performed in mouse models with CNVs of the syntenic 7qF3 region?
Differentially expressed genes were largely tissue-, cell-type-, and dosage-specific
Where were the broadest effects observed in the mouse models with CNVs of the syntenic 7qF3 region?
Cerebellum
Which pathways showed the greatest enrichments in the mouse cerebellum and human induced neurons?
Synaptic pathways
What processes were identified as shared by pathway and co-expression analyses?
Energy and RNA metabolism
What gene sets showed enrichment in association with the reciprocal 16p11.2 CNVs?
ASD-associated, loss-of-function constraint, and fragile X messenger ribonucleoprotein target gene sets
What is the main focus of the passage?
Studying the impact of 16p11.2 copy number variation on neurodevelopment
Which process is specifically implicated as a target of disruption in 16p11.2 carriers?
Excitatory/inhibitory balance
What is the significance of the reciprocal alterations to the proportions of excitatory and inhibitory GABAergic neurons in organoids?
They point to changes in neurodevelopmental and cognitive function
What is a key method used for modeling recurrent RGDs in hiPSCs and derived neuronal lineages?
Genome-editing techniques with CRISPR/Cas9
What do investigations of animal models and tissues reveal about NDD pathogenesis?
Altered ratios of cell types in the developing brain
What complicates the identification of regulatory changes most relevant to abnormal neurodevelopment in individuals harboring CNVs?
Patient-specific variability in genetic background
What method was used to examine tissue-specific changes in global gene expression?
Mouse models with reciprocal CNVs
What is the primary focus of using global transcriptome analysis of peripheral cells from individuals harboring CNVs?
Identifying tissue-specific changes in gene expression
What did the authors seek to integrate in order to disentangle molecular and transcriptional signatures associated with 16p11.2 RGD?
Human and mouse modeling
What are the three brain regions analyzed in the study?
Cortex, striatum, and cerebellum
Test your knowledge on the transcriptome profiling of mouse models with CNVs in the syntenic 7qF3 region, and their molecular effects on various tissues. Explore the impact of recurrent copy-number variants (CNVs) on intellectual disability, autism spectrum disorder (ASD), and schizophrenia.
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