Most disorders attributable to repeats result from expansion of the repeats. Two

Question

Most disorders attributable to repeats result from expansion of the repeats. Two mechanisms are often proposed to explain expansion: (1) synapses and crossing over and (2) errors in DNA replication where single-stranded, base-paired are that conflict with linear replication. Notice that some of the repeats occur in areas of the gene that are not translated. How can a mutation occur if the alteration is not reflected in an altered amino acid sequence? a. Repeats often activate attraction in the coding regions of genes. Attraction may distort the splicing process or may change the direction of motion of regulatory signals. b. Repeats often change the genes so that normal function of the gene is occupied or interrupted. Without functioning genes do not have enough sources to translate normally. c. Repeats that occur outside of the coding regions do not have an effect on the gene product There are other factors that contribute to the onset of these disorders d. Repeats within introns may upset the splicing process or may actually influence regulatory sequences that are contained in introns. e. Repeats often upset regulatory signals both upstream and downstream from the coding regions of genes.

Explanation / Answer

d. Repeats within introns may upset the splicing process or may actually influence regulatory sequences that are contained in introns.

Explanation: Repeats originally discovered by Barbara McClintock,dispersed repeats have been increasingly recognized as a potential source of genetic variation via splicing process and regulation due to presence of regulatory sequences. Together with these regulatory roles, a structural role of repeated DNA in shaping the 3D folding of genomes has also been proposed.

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