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Gene and chromosomal mutations can alter phenotype. How it affects phenotype wil

ID: 198771 • Letter: G

Question

Gene and chromosomal mutations can alter phenotype. How it affects phenotype will depend on where the mutation occurs. Based on the given locations of mutations, provide the possible consequence(s). Consequence 1. Coding region of INS (insulin) gene 2. Coding region of a protein kinase 3. Coding region of an miRNA 4. Coding region for a transcription factor 5. Cis-regulatory region of a transcription factor 6. Cis-regulatory region of INS 7. Pseudogene For these mutations to be heritable, where do they need to happen?

Explanation / Answer

Answer:

Coding region of INS (insulin) gene: Since insulin gene product is involved in synthesis of insulin and regulation of glucose homeostasis, therefore, mutation in the coding region of INS gene can cause hyperinsulinemia or hyperproinsulinemia. It can also cause neonatal diabetes mellitus and maturity-onset diabetes of the young (MODY).

Coding region of a protein kinase: Protein kinase are involved in the regulation of many cellular pathways and somatic mutation in coding region of protein kinase are functionally linked to a variety of cancers. Protein kinases play an important role by functioning as both tumor suppressors and proto-oncogenes in normal cells and mutations in coding regions of protein kinase contributes to tumorigenesis.

Coding region of a miRNA: MicroRNAs (miRNA) functions as post-transcriptional regulators of mRNA expression and binds to the 3-untranslated region of the target protein coding gene. Somatic mutations in coding regions of miRNA can disrupt the interactions between miRNAs and their targets, can cause transcriptional deregulations, epigenetic changes and are also associated with cancer.

Coding region for a transcription factor: A transcription factor may be involved in the regulation of multiple genes, therefore mutation in coding region of a transcription factor can have a pleiotropic effect and affect the transcription or expression level of different genes.

Cis-regulatory region of INS: Insulin transcriptional control is conferred by cis-acting regulatory sequences and these are  essential for regulating insulin biosynthesis. Mutation in cis-regulating region of insulin gene can cause alteration in the expression levels of the insulin gene.

Pseudogene are genes that have lost their complete or atleast some function and these are caused due to accumulation of multiple mutations within a gene. Since pseudogenes lack biological function, therefore, mutations in Pseudogene have no detrimental effects.

For these mutations to be heritable, where do they need to happen?

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