Genetics: From Genes to Genomes
Genetics: From Genes to Genomes
6th Edition
ISBN: 9781259700903
Author: Leland Hartwell Dr., Michael L. Goldberg Professor Dr., Janice Fischer, Leroy Hood Dr.
Publisher: McGraw-Hill Education
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Chapter 1, Problem 17P

Different mutations in the WDR62 gene that inactivate gene function were found in the genomes of many different people with microcephaly. This information provided strong support for the idea that the WDR62 gene mutation causes microcephaly.

a. The human genome sequence identified WDR62 as one of the approximately 27, 000 genes in the human genome. What information about the function of WDR62 do you think was learned originally from the DNA sequence of the normal human genome?
b. What additional information was provided by identification of WDR62 as the microcephaly disease gene?
c. The mouse genome contains a gene similar to human WDR62. Experiments in mice have shown that the mouse WDR62 gene is expressed in the brain. Technology is now available that allows scientists to generate mice in which the two normal copies of the WDR62 gene are replaced with mutant copies of the gene that are nonfunctional. Why would a scientist want to generate such WDR62 mutant mice?
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Huntington disease (HD) can arise from a rare, short, in-frame addition of CAG nucleotide triplets within the huntingtin (HTT) gene coding region, which creates a disease-causing allele with the symptoms only appearing later in life. Using this information, describe an experiment that could be undertaken to determine whether a currently healthy young individual is a carrier of the HD-causing mutation. Describe the method you would use and how you would interpret the results of this experiment.
SIM is toxic to E. coli. Ali has discovered that a novel prokaryote, C.bantaglia genome encodes for a protein, AIN that can degrade SIM. a. In steps, outline how you can construct this genomic library so that recombinant expression can be performed in E. coli? B. After the genomic library has been constructed you are tasked to describe in steps how you would isolate the DNA sequence that encodes for AIN?
Huntington’s disease is a hereditary central nervous system disorder characterized by tandem repeats of the sequence 5'-CAG-3' in the gene that encodes a protein called huntingtin. The disease is progressive from generation to generation, meaning that in later generations the number of CAG repeats increases and the age of onset of symptoms decreases. Refer to Figure 21.4 and describe the sort of evidence supporting the generational increase in the number of CAG repeats.
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY