Which of the mutations that follow are likely to be recessive lethal mutations (i.e. mutations causing lethality when they are the only alleles present in an individual) in humans? Explain your reasoning. a. Deletion of the U1 genes. b. A single base-substitution mutation in the U1 gene that prevented the U1 snRNP from binding to the 5'-GU-3' sequence found at the 5' splice junctions of the introns. c. Deletion within the intron of the β-globin. d. Deletion of four bases at the end of intron 2 and three bases at the beginning of exon 3 in β-globin.
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Deletion of the U1 genes: The U1 gene is essential for the formation of the U1 snRNP, which is a crucial component of the spliceosome. The spliceosome is responsible for the removal of introns from pre-mRNA during the process of splicing. If the U1 genes are Show more…
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