Question

Explain what happens if even one amino acid is substituted for another in a polypeptide chain. Provide a specific example.

Short answer

A single amino acid substitution in a polypeptide chain can significantly alter the protein's structure and function. For example, in sickle cell anemia, the substitution of glutamic acid with valine in the beta-globin chain of hemoglobin results in an abnormal hemoglobin variant called HbS. This alteration causes red blood cells to become sickle-shaped, leading to blocked blood vessels, pain, and organ damage.

Step-by-step solution

Introduction to Amino Acids and Polypeptide Chains

Amino acids are the building blocks of proteins, which are essential for many biological functions. A polypeptide chain is a linear sequence of amino acids linked together by peptide bonds. There are 20 different amino acids that can be used to create a polypeptide chain, allowing for a wide variety of potential protein structures and functions.

Role of Amino Acids in Polypeptide Chains

The specific sequence of amino acids in a polypeptide chain determines the three-dimensional structure of the protein, which in turn determines its function. If even one amino acid is substituted for another in this sequence, the structure and function of the protein can be significantly altered. This change can lead to a loss of function, a gain of function, or even a completely new function.

Consequences of Amino Acid Substitution

When an amino acid is substituted for another in a polypeptide chain, it can lead to a change in the overall protein structure. This change can be a result of differences in the chemical properties of the new amino acid, such as its size, charge, or hydrophobicity. As a result, the protein can fold differently, potentially affecting its stability, interactions with other molecules, and its ability to perform its intended function.

Specific Example: Sickle Cell Anemia

An example of the consequences of a single amino acid substitution is sickle cell anemia, a genetic disorder caused by a mutation in the gene encoding the beta-globin chain of hemoglobin (Hb). Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. In sickle cell anemia, the amino acid glutamic acid at position 6 in the beta-globin chain is replaced by valine. This substitution results in the formation of an abnormal hemoglobin variant called HbS. The presence of HbS alters the structure of the hemoglobin molecule, causing red blood cells to become sickle-shaped and less flexible. As a result, sickle-shaped red blood cells can block blood vessels, leading to reduced blood flow, pain, and organ damage in affected individuals. This specific example demonstrates the potential consequences of even a single amino acid substitution on the structure and function of a protein, which can have significant impacts on the health and well-being of an organism.