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d. Where would you find a mutation that affects transcription of this gene? e. Where would you find a mutation that affects splicing? f. What effect would the mutation m2 have on pre-mRNA? g. What effect would mutation m2 have on the length of the mature mRNA? h. What effect would mutation M2 have on the protein produced?

d. Where would you find a mutation that affects transcription of this gene? e. Where would you find a mutation that affects splicing? f. What effect would the mutation m2 have on pre-mRNA? g. What effect would mutation m2 have on the length of the mature mRNA? h. What effect would mutation M2 have on the protein produced?

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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D e f g h 

**Gene Structure and Analysis** **Diagram Description:** The diagram illustrates the structure of a human gene. It includes sections labeled as exons and introns. Exons are shown in blue, and introns are shown in white. - The gene is read from 5’ to 3’. - The promoter and start of transcription are indicated on the 5’ end. - Exons are numbered with their respective nucleotide lengths: 50, 130, 222, 126, and 132. - Introns are between the exons and are numbered with their lengths: 90, 850. - The transcription termination site (also poly A site) is marked on the 3’ end. - A marker labeled "m2" is indicated as a possible site of mutation impacting intron 1. **Questions for Analysis:** a. What is the length of the primary mRNA transcript (before splicing)? b. What is the length of the mRNA after splicing? c. How many amino acids will this protein have? d. Where would you find a mutation that affects transcription of this gene? e. Where would you find a mutation that affects splicing? f. What effect would the mutation m2 have on pre-mRNA? g. What effect would mutation m2 have on the length of the mature mRNA? h. What effect would mutation m2 have on the protein produced? **Educational Notes:** 1. **Primary mRNA Transcript:** - Before splicing, includes all exons and introns. 2. **Splicing:** - Process where introns are removed and exon sequences are joined to form mature mRNA. 3. **Amino Acids in Proteins:** - Determined by the coding sequence of the spliced mRNA. - Divide the length of coding nucleotides by 3 (each codon codes for one amino acid). 4. **Mutation Effects:** - Mutations in promoters or transcription start sites can affect gene transcription. - Mutations in splice sites can affect exon inclusion or exclusion, altering mRNA and protein. This educational guide assists students in understanding gene structure, transcription, and potential implications of mutations.
Transcribed Image Text:**Gene Structure and Analysis** **Diagram Description:** The diagram illustrates the structure of a human gene. It includes sections labeled as exons and introns. Exons are shown in blue, and introns are shown in white. - The gene is read from 5’ to 3’. - The promoter and start of transcription are indicated on the 5’ end. - Exons are numbered with their respective nucleotide lengths: 50, 130, 222, 126, and 132. - Introns are between the exons and are numbered with their lengths: 90, 850. - The transcription termination site (also poly A site) is marked on the 3’ end. - A marker labeled "m2" is indicated as a possible site of mutation impacting intron 1. **Questions for Analysis:** a. What is the length of the primary mRNA transcript (before splicing)? b. What is the length of the mRNA after splicing? c. How many amino acids will this protein have? d. Where would you find a mutation that affects transcription of this gene? e. Where would you find a mutation that affects splicing? f. What effect would the mutation m2 have on pre-mRNA? g. What effect would mutation m2 have on the length of the mature mRNA? h. What effect would mutation m2 have on the protein produced? **Educational Notes:** 1. **Primary mRNA Transcript:** - Before splicing, includes all exons and introns. 2. **Splicing:** - Process where introns are removed and exon sequences are joined to form mature mRNA. 3. **Amino Acids in Proteins:** - Determined by the coding sequence of the spliced mRNA. - Divide the length of coding nucleotides by 3 (each codon codes for one amino acid). 4. **Mutation Effects:** - Mutations in promoters or transcription start sites can affect gene transcription. - Mutations in splice sites can affect exon inclusion or exclusion, altering mRNA and protein. This educational guide assists students in understanding gene structure, transcription, and potential implications of mutations.
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A human gene at molecular level consists of several parts like promoter where the transcription starts, exons (the coding region) and introns (teh non coding regions). Termination takes place at the end called the terminator region.

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