Exons 1% 46. This chart shows the \"parts list\" of the human genome and is prov

Question

Exons 1% 46. This chart shows the "parts list" of the human genome and is provided for your convenience. As you know, SNPs are the most common mutation found in the human genome. Follow the prompts to provide two distinct explanations for why most SNPs do not cause changes in a person's phenotype. Infrons (24%) Other Transposons A. Provide a mathematical explanation for why the vast majority of SNPs are "neutral" and have no offect on the activity or expression of genes. infergenie (Hint: remember, SNPs occur randomly!) (22% Simple repeats (3%) Large duplications (596) 8. Provide a genetic explanation for why SNPs that occur within exons tend to have no phenotypic effect when present in only one copy. (Hint: discuss haplosufficiency/insufficiency!)

Explanation / Answer

Human genome size = 3 billion bp

Only 1% of the genome is the coding region. The remaining 99% of the genome is the noncoding region (Repetitive sequences, introns, and transposons)

The probability of mutations occurring is same for both coding and noncoding regions.

However, mutations in exons are generally subjected to natural selection as it causes a change in the phenotype.

Mutations in noncoding regions rarely affect gene expression until and unless they are present in the cis elements required for gene expression.

Mathematically, 99% of the mutations occur in the noncoding regions. So, all these mutations are most likely to be neutral.

Mutations that occur in exons can have varying effects depending upon the nature of the mutation.

A dominant mutation can cause mutant phenotype even in the heterozygous condition.

A recessive mutation can cause mutant phenotype only in the homozygous condition.

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