Your mentor has Whole Genome Sequence (WGS) data on 2,000 children with Autism S

Question

Your mentor has Whole Genome Sequence (WGS) data on 2,000 children with Autism Spectrum Disorder (ASD). You perform bioinformatics analyses and identify changes in the Caput gene. One affected individual has Copy Number Variations (CNVs) that amplify the entire Caput gene. Another affected individual has a single base pair substitution that introduces a premature stop-codon in the Caput coding region. The Caput gene has an important role in synaptic transmission and neuronal development. Which experiment would be your next step? a) Sequence the upstream region of the Caput gene in the same set of ASD subjects to find regulatory mutations. b) Perform epigenetic analysis of the Caput gene in the blood. c) Generate knock-out and knock-in alleles of Caput in the mouse and evaluate their phenotype in a sociability test. d) Perform deep phenotyping on all ASD subjects to search for common clinical profiles. e) Search for interacting genes in all subjects who carry mutations in the Caput gene.

Explanation / Answer

The next step should be to perform knock-out and knock-in alleles of caput gene in mouse. The caput knock-out mouse shows the same phenotype as the affected individual with single base pair substitution(encoding premature stop-codon). And the caput knock-in mouse will show the same phenotype as the affected individual with copy number variation. Thus we can confirm that ASD is occuring due to changes in caput gene.

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