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Consider the following as you review the work of your peersHow did they incorporate the evidence?
Did they correctly identify the karyotype and include whether or not having 3 copies of chromosomes 21 typically leads to the absence of eyes?
Did they identify the missense and nonsense mutations found in the mRNA sequences of the parents?
Did they correctly translate the affected codons before and after the mutation?
Did they link the locations of the mutations to the parts of the protein, and suggest what might be the consequence of those mutations on the functions of the protein, given the description of the domains?
Did they include a hypothesis about which mutation would be more severe and does their evidence make sense, or can you offer an alternative suggestion?
Did they make a connection between the fact that PAX6 contains a DNA-binding domain, binds to a protein that acetylates histones, and the fact that some genes are no longer expressed?
What does this suggest about the function of PAX6—did they include any connection to the course material of PAX6 as a master regulator?
Did they make a connection between the role of PAX6 in controlling gene expression and the boy being born without eyes?

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