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
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.
A. codon that mutates causes a stop codon to occur instead of the placement of an amino acid.
B. mutation is not in DNA.
C. mutation does not occur in a codon.
D. codon that mutates does not cause a change in the amino acid specified.
E. codon that mutates causes a change in the amino acid specified.
A. codon that mutates causes a stop codon to occur instead of the placement of an amino acid.
You might also like to view...
Teratogens affect the ____ more than any other part of the fetal body
a. central nervous system b. upper limbs c. heart d. lower limbs e. external genitalia
Which is the smallest unit of life that can exist as a
separate entity? a. a cell b. a molecule c. an organ d. a population e. an ecosystem
Which vascular tissue is responsible for conducting water and dissolved minerals in plants?
a. phloem b. xylem c. stems d. roots e. sori
Around hydrothermal vents at depths of more than 2,500 m, scientists have found colonies of giant tube-dwelling worms. The worms contain symbiotic prokaryotes that are able to use hydrogen sulfide as an energy source for the synthesis of organic matter from carbon dioxide. The bacteria are _____.
Fill in the blank(s) with the appropriate word(s).