Lesson plan

ANKRD17

Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene. This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. De novo mutations to ANKRD17 are known to cause Chopra-Amiel-Gordon syndrome. Genetic analysis of individuals with CAGS suggests that the disorder follows the haploinsufficiency model of gene action.

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Article summary

Ankyrin repeat domain-containing protein 17 is a protein that in humans is encoded by the ANKRD17 gene. This gene encodes a protein with ankyrin repeats, which are associated with protein-protein interactions. Studies in mice suggest that this protein is involved in liver development. Two transcript variants encoding different isoforms have been found for this gene. De novo mutations to ANKRD17 are known to cause Chopra-Amiel-Gordon syndrome. Genetic analysis of individuals with CAGS suggests that the disorder follows the haploinsufficiency model of gene action.

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Discussion questions

  1. Summarise the article in your own words. Which single claim would you verify first, and why?
  2. Which claim in this article is most likely to be revised as the sources update? How would you check its current status?
  3. If two sources disagreed about one of these facts, what would you need in order to trust one over the other?

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