You are studying a mutant form of a particular transcription factor linked to th

Question

You are studying a mutant form of a particular transcription factor linked to the development of human disease. You identify a single nucleotide polymorphism (SNP-a mutation that changes only a single nucleotide in the gene) that is responsible for the disease phenotype. You determine that the mutant protein is more than twice the size of the WT protein and the amino acid sequence is correct at the NHz terminus but diverges dramatically at the COOH half of the protein. The gene structure and protein products are shown below as well as the percentage homology between the WT and Mut protein product. E1-5 indicate exons. The A to G mutation is indicated ASI. ATG WT protein 6% Homology 17) What is the most likely explanation for how the SNP produces proteins of different sizes? 18) How do you explain the low levels of homology between the WT and Mut C-termini? transcription factor accumulates in the nucleus where it regulates transcription of target genes, the mutant protein is localized to the cytoplasm. How can you explain this observation? 19) In addition to the differences in size and amino acid sequence, you also notice that while the WT

Explanation / Answer

17). The SNPs is called Single nucleotide polymorphic DNA. SNP occurs due to the difference in a single nucleotide at a specific site. SNP is a site in the genome with a base-pair difference among chromosomes that is present at least one in every 50 individuals. Examples of SNP’s include differences among the alleles of hemoglobin (A, S and C).

For example, 10 to 15% of the whole genome of an individual has copy number variation. Consider a gene that expresses enzyme salivary amylase. The copy number of this gene varies from one population to another. The population which consumes high starch diet has more copy number when compared to population, which consumes Low starch diet.

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