1. A) Suggest a dominant mutation in a specific regulatory gene or sequence that
ID: 62591 • Letter: 1
Question
1.
A) Suggest a dominant mutation in a specific regulatory gene or sequence that could lead to increased expression or expression in normally repressive conditions of target genes activated in response to glucocorticoids.
B) Explain why the mutation you chose would be dominant?
2.
A) Suppose that cells from an embryo of a female mammal are found to be homozygous for loss of function alleles for pluripotency factors. How would this alter X-inactivation in these embryonic cells?
B) If these cells were fused to cells from a wild type female embryo, would the mutations from part A be categorized as cis or trans-effect mutations? Briefly explain.
Explanation / Answer
1) A) Duplication of the enhancer sequences for the regulatory gene could lead to increased expression of the target gene.
B) This mutation is dominant because single enhancer sequence is enough to increase the target gene expression.
2) A) When pluripotent embryonic cells in female mammals differentiate they silence one X chromosome. As the cells are homozygous for loss of function alleles for pluripotency factors, X-inactivation would not take place in these embryonic cells.
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