Chromosome 16p11.2 Reciprocal Genomic Disorder: Transcriptome Profiling Quiz

Play an AI-generated podcast conversation about this lesson

Which of the following is an outcome of the reciprocal genomic disorder involving chromosome 16p11.2 copy-number variants (CNVs)?

Hypertension, osteoporosis, and cancer

Diabetes, heart disease, and obesity

Intellectual disability, autism spectrum disorder (ASD), and schizophrenia (correct)

Hearing loss, vision impairment, and motor neuron disease

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 similar across all tissues and cell types

Differentially expressed genes were largely tissue-, cell-type-, and dosage-specific (correct)

No significant gene expression changes were observed in the mouse models

The effects of CNVs were consistent across all six tissues studied

Where were the broadest effects observed in the mouse models with CNVs of the syntenic 7qF3 region?

Striatum

Cerebellum (correct)

Liver

Brown fat

Which pathways showed the greatest enrichments in the mouse cerebellum and human induced neurons?

Synaptic pathways Signup and view all the answers

What processes were identified as shared by pathway and co-expression analyses?

Energy and RNA metabolism Signup and view all the answers

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 Signup and view all the answers

What is the main focus of the passage?

Studying the impact of 16p11.2 copy number variation on neurodevelopment Signup and view all the answers

Which process is specifically implicated as a target of disruption in 16p11.2 carriers?

Excitatory/inhibitory balance Signup and view all the answers

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 Signup and view all the answers

What is a key method used for modeling recurrent RGDs in hiPSCs and derived neuronal lineages?

Genome-editing techniques with CRISPR/Cas9 Signup and view all the answers

What do investigations of animal models and tissues reveal about NDD pathogenesis?

Altered ratios of cell types in the developing brain Signup and view all the answers

What complicates the identification of regulatory changes most relevant to abnormal neurodevelopment in individuals harboring CNVs?

Patient-specific variability in genetic background Signup and view all the answers

What method was used to examine tissue-specific changes in global gene expression?

Mouse models with reciprocal CNVs Signup and view all the answers

What is the primary focus of using global transcriptome analysis of peripheral cells from individuals harboring CNVs?

Identifying tissue-specific changes in gene expression Signup and view all the answers

What did the authors seek to integrate in order to disentangle molecular and transcriptional signatures associated with 16p11.2 RGD?

Human and mouse modeling Signup and view all the answers

What are the three brain regions analyzed in the study?

Cortex, striatum, and cerebellum Signup and view all the answers

Chromosome 16p11.2 Reciprocal Genomic Disorder: Transcriptome Profiling Quiz

Choose a study mode

Podcast

Questions and Answers