You have just been given a few cells isolated from a 5 week old embryo. These ce

Question

You have just been given a few cells isolated from a 5 week old embryo. These cells were collected from a small sample of amniotic fluid from the womb and contain some cells from the developing embryo.

Part A) You note in an initial experiment that one of the XYZ123genes (this is a made up gene) has a mutation that results in a UAG instead of a UCG in codon #14. What will you predict as this embryo develops?

Part B) In your analysis it becomes apparent than an enhancer normally 250 base pairs upstream of the promoter of a different XYZ123gene than the one in part A, is instead now 750 base pairs upstream of the promoter. How will this affect development of the embryo?

c) How could the enhancer change in distance have happened?

Explanation / Answer

Part-A: The embryo will not develop. Because, the functional codon i.e. UCG (Serine) converted into UAG (Amber) a stop or Non-Sence codon. Due to this mutation, an incomplete protin of the XYZ123gene produced and it will not allow proper embryo development

Part B: Enhancer can stimulate the gene expression even they are severla nucleotides away from the gene, or they are in inverted position or even they are in down stream coding region. So enhancer normally 250 base pairs upstream of the promoter of a different XYZ123gene than the one in part A, is instead now 750 base pairs upstream of the promoter still it allow the gene expression. And embryo develops normally

Part-C: Enhancer can stimulate the gene expression even they are severla nucleotides away from the gene, or they are in inverted position or even they are in down stream coding region. This change of enhancer position is due to folding and defolding of the genome.

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