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 18, Problem 2P

Mice are usually gray, but a mouse geneticist has a pure-breeding white-furred strain that is homozygous for a recessive mutation. Molecular analysis shows that the mutation, represented by an asterisk in the following diagram, is a missense mutation in an exon common to three alternative splice forms of a gene expressed in hair follicles.

 Chapter 18, Problem 2P, Mice are usually gray, but a mouse geneticist has a pure-breeding white-furred strain that is

a. Suggest an experimental approach using transgenic animals that you might employ to determine which splice form(s), when mutant, cause the white fur phenotype.
b. Diagram the gene construct(s) you would create for your experiment.
c. A potential problem with this approach concerns the amounts of mRNA that might be transcribed from the transgenes. Explain.
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The Dscam locus in Drosophila melanogaster has 24 exons. Four of these exons are able to undergo alternative splicing. Exon 4 has 12 possible splice variants, exon 6 has 48 variants, exon 9 has 33 variants, and exon 17 has 2 variants. If all splicing combinations are possible, how many different Dscam protein sequences could be encoded by a single allele at this locus?
The goal of the Knockout Mouse Project is to generate a set of ES cell lines, each with a knockout mutation in a single gene, that collectively contains amutation in every gene in the mouse genome.a. Do you think that it will be possible, for everygene, to generate a heterozygous knockout ES cellline? Explain.b. Do you think that for every heterozygous knockoutES cell line, it will be possible to generate a heterozygous knockout mouse? Explain.c. In fact, investigators failed in their attempts to generate ES cell knockouts for the Fam gene describedin Problem 5. How could these researchers use EScell technology to determine whether Fam is required for eye development in the mouse? Diagrama construct that the researchers could introduceinto ES cells to explore this issue.d. Describe various outcomes that might be obtainedfrom the experiment in part (c) and what you couldconclude in each case.
The following figure shows a screen shot from the UCSC Genome Browser, focusing on a region of the human genome encoding a gene called MFAP3L. (Note hg38 refers to version 38 of the human genome RefSeq)a. Describe in approximate terms the genomic location of MFAP3L.b. Is the gene transcribed in the direction from the centromere-to-telomere or from the telomere-to-centromere?c. How many alternative splice forms of MFAP3L mRNA are indicated by the data?d. How many different promoters for MFAP3L are suggested by the data?   (please do not copy and paste the answer from below. i don't think it is correct. a. MFAP3L is mostly found in the nucleus in the genome. It is found on chromosome 4 reverse strand. The protein produced by the gene is found in the cell membrane, and it is positioned on the membrane with the carboxyl side of the protein facing the cytosol. b. The MFAP3L gene is transcribed from the telomere to the centromere. c. According to the data, there are 11 different splice forms…

Chapter 18 Solutions

Genetics: From Genes to Genomes

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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY