Xeroderma pigmentosum (XP) is an autosomal recessive condition characterized by moderate to severe sensitivity to ultraviolet (UV) light. Patients develop multiple skin lesions on UV-exposed skin, and skin cancers often develop as a result. XP is caused by deficient repair of DNA damage from UV exposure. Many genes are known to be involved in repair of UV-induced DNA damage, and several of these genes are implicated in XP. What genetic phenomenon is illustrated by XP?
Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
17. Mutation, Repair, and Recombination
Induced Mutations
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Join thousands of students who trust us to help them ace their exams!Watch the first videoMultiple Choice
Which of the following mutations would have the least effect on an individual?
A
4 base pair insertion in an intron
B
Deletion of an exon
C
A nonsense mutation in the last exon of a gene
D
A point mutation in the splice site of an intron

1
Understand the role of introns and exons in gene expression. Introns are non-coding regions that are removed during RNA splicing, while exons are coding regions that are expressed in the final protein.
Consider the impact of a 4 base pair insertion in an intron. Since introns are removed during RNA processing, small insertions in introns often have minimal impact on the final protein product.
Evaluate the effect of a deletion of an exon. Exons are crucial for coding the protein, so their deletion can lead to a loss of important protein-coding information, potentially resulting in a nonfunctional protein.
Analyze the consequences of a nonsense mutation in the last exon of a gene. A nonsense mutation introduces a premature stop codon, which can truncate the protein. However, if it occurs in the last exon, the impact might be less severe as the majority of the protein is already synthesized.
Examine the effect of a point mutation in the splice site of an intron. Splice sites are critical for proper RNA splicing. A mutation here can lead to incorrect splicing, potentially resulting in a dysfunctional protein.
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