Transcription and Translation
A newly discovered genetic disease has been observed in several large families. Characteristics of the disease include mental retardation and coronary defects. Researchers studying this disease have isolated the responsible gene. The functional protein encoded by this gene consists of a single polypeptide chain. Experiments were done to determine the exact sequence of the gene with the following results:
Sequencing result 1: In a family with no history of the disease, the gene was found to be 849 nucleotides long, encoding a protein containing 283 amino acids. The mRNA sequence coding for the 22-26th amino acids is shown below:
5’ AUUCCUAGUUGCACG 3’
Sequencing result 2: The genetic disease runs in family A. However, in this family, the disease is not severe and most affected individuals lead a fairly normal life. The mRNA transcribed form this gene is shown below (corresponding to the same region of the normal gene in result 1):
5’ AUUCCUAGAUGCACG 3’
Sequencing result 3: The disease is also present in family B, but affected individuals are much worse off than those in family A. The gene was sequenced, and the corresponding mRNA is shown below (same region as sequence results 1 and 2):
5’ AUUCCUAGUUGAACG 3’
The mutation in family A (sequencing result 2) will cause which of the following results?
|A||A protein will not be made.|
|B||There will be a single amino acid change in the protein.|
|C||The heart in an individual with the mutation will not develop correctly.|
|D||There will be a change in the quaternary structure of the protein.|
A single nucleotide substitution in the sequence will result in a single amino acid change in the resulting protein (refer to the genetic code). The protein will still be translated, so response A is not true. We cannot infer from the sequencing information or from the family history that the mutation will not allow the heart to develop properly, so response C is incorrect. In addition, we are told the protein functions as a single polypeptide chain, so response D is also incorrect.