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

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?

    <p>Synaptic pathways</p> Signup and view all the answers

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

    <p>Energy and RNA metabolism</p> Signup and view all the answers

    What gene sets showed enrichment in association with the reciprocal 16p11.2 CNVs?

    <p>ASD-associated, loss-of-function constraint, and fragile X messenger ribonucleoprotein target gene sets</p> Signup and view all the answers

    What is the main focus of the passage?

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

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

    <p>Excitatory/inhibitory balance</p> 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?

    <p>They point to changes in neurodevelopmental and cognitive function</p> Signup and view all the answers

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

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

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

    <p>Altered ratios of cell types in the developing brain</p> Signup and view all the answers

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

    <p>Patient-specific variability in genetic background</p> Signup and view all the answers

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

    <p>Mouse models with reciprocal CNVs</p> Signup and view all the answers

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

    <p>Identifying tissue-specific changes in gene expression</p> 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?

    <p>Human and mouse modeling</p> Signup and view all the answers

    What are the three brain regions analyzed in the study?

    <p>Cortex, striatum, and cerebellum</p> Signup and view all the answers

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