Your niece has been diagnosed with Diamond-Blackfan anemia, an extremely rare disorder of the bone marrow that causes people have a low red blood cell (RBC) count. The disease is classified as a ribosomal protein disease, meaning that one or more of the genes involved in ribosome production is/are mutated, and the ribosomes are not synthesized properly. Although it is not currently understood why mutations in ribosome biosynthesis affect blood cell formation particularly, you are able to help your sister understand the role of ribosomes in the cell and the consequence of ribosome failure, so that she has a better grasp of her child's condition.
-One of the genes affected in Diamond-Blackfan Anemia is called RPS19. This gene plays a role in maturation of the 40S subunit. Your sister tells you she heard that protein synthesis can occur normally if the large ribosomal subunit is present, even if the small subunit is not because the large subunit is the part that decodes the information. You tell her that this is

Question

Your niece has been diagnosed with Diamond-Blackfan anemia, an extremely rare disorder of the bone marrow that causes people have a low red blood cell (RBC) count. The disease is classified as a ribosomal protein disease, meaning that one or more of the genes involved in ribosome production is/are mutated, and the ribosomes are not synthesized properly. Although it is not currently understood why mutations in ribosome biosynthesis affect blood cell formation particularly, you are able to help your sister understand the role of ribosomes in the cell and the consequence of ribosome failure, so that she has a better grasp of her child's condition. 
-One of the genes affected in Diamond-Blackfan Anemia is called RPS19. This gene plays a role in maturation of the 40S subunit. Your sister tells you she heard that protein synthesis can occur normally if the large ribosomal subunit is present, even if the small subunit is not because the large subunit is the part that decodes the information. You tell her that this is

Quizplus · Accepted Answer

While it is true that the large subunit is responsible for peptide bond formation, and can technically perform this function without the small subunit, it is essential for both subunits to be present and properly assembled in order for effective protein synthesis to occur. The small subunit plays a crucial role in identifying the start codon on the mRNA and correctly aligning it with the initiator tRNA. Without this step, translation cannot proceed properly. Therefore, if the small subunit is not properly formed due to a mutation in ribosome biosynthesis genes such as RPS19, it can lead to a deficiency in protein synthesis and a reduced production of red blood cells, causing Diamond-Blackfan anemia.

Your Niece Has Been Diagnosed with Diamond-Blackfan Anemia, an Extremely