the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dyst
the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dyst
the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dyst
Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!
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Consider single nucleotide polymorphism (SNP) #1 (Figure 1).
Is this mutation likely to cause Duchenne muscular dystrophy to develop?
Explain your reasoning. Indicate what the effect of the mutation would be on the protein synthesized from the affected sibling's gene.
Transcribed Image Text:**Transcription Analysis of a DNA Sequence**
In this diagram, we analyze a segment of a DNA sequence focusing on transcription start sites and specific nucleotide mutations. The sequence is divided into exons (shown in gray boxes) and an intron (shown in a green box). The function of these segments is crucial, as exons contain the coding regions for proteins, while introns are typically non-coding sequences.
**DNA Sequence:**
- **Sense Strand (5' to 3'):**
`5'-acgcggtctatattagctcaCAAGATGTACTTTTGGACAAGAGAGgtaagtcttgtccagGATCCCATCTGTGGCACTTGAACG(terminator)-3'`
- **Antisense Strand (3' to 5'):**
`3'-tgcgccagatataatcgtagGTTCCTACATGAAAACCTGTCTCTCTCcatttcttgcaggtcCTAGGGTAGACGTGCAACTTGGC(terminator)-5'`
**Transcription Start Site:**
- Marked at position (+1) on the antisense strand near the end of the first exon.
**Notable Nucleotide Mutations:**
1. **#1:** At the start of the sequence, there is a mutation (g>a).
2. **#2:** A mutation (A>G) is identified shortly before the first exon.
3. **#3:** This mutation (C>A) is located within the first exon.
4. **#4:** A noticeable mutation (a>t) is found near the boundary before the intron.
5. **#5:** At the beginning of the second exon, there is a mutation (G>C).
These mutations can have various effects on gene expression, potentially altering protein function, splicing, or regulation. Understanding such changes is essential in genetic research and diagnostics.
Definition Definition A complex molecule that makes up a fundamental unit of a DNA or RNA molecule. Nucleotides are composed of a sugar, a nitrogenous base, and a phosphoric acid.
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