The Human Genome Project is a multinational project that reported complete identification of more than 20,000 genes in human DNA. Growing understanding has associated "normal" and naturally variable versions of the genes, producing specific proteins for human health and cell functions. Numerous mutated versions of the genes have been associated with particular human health problems and disease, due to the types of cells where mutations occur, the specific genes affected, and the type and extent of mutation. In these cases, the structure and function of proteins is ultimately impacted. Examine these examples to apply your knowledge of mutations to the descriptions provided.
-The COL1A1 gene in humans is responsible for producing collagens in healthy bone and cartilage.A mutation in COL1A1 is known to cause severe Osteogenesis Imperfecta,which is also known as "brittle bone disease," in which bones form irregularly and can break often,with even mild pressure and impacts.The mutation occurs as a "nonsense" mutation,dramatically shortening the proteins,occurring because the

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A nonsense mutation occurs when a codon that specifies an amino acid is changed into a stop codon, causing protein synthesis to terminate prematurely. The mutation in COL1A1 that causes severe Osteogenesis Imperfecta is a nonsense mutation, which shortens the protein and impairs its function, leading to brittle bones.

The Human Genome Project Is a Multinational Project That Reported