Splice Variants

Discussion – Splice Variants

We learned about the interrupted genes of eukaryotes and how alternative splicing contributes to the wide array of functional proteins that can be expressed from limited DNA. Unfortunately, genomic variants that disrupt normal splicing are a major cause of rare genetic diseases and can be very difficult to detect.

For this week’s discussion, find and analyze an original research (contains experimental data and is not a review paper) article that discusses a splice variant of clinical interest. You can find many articles by using the databases below and searching for splice variants AND an organ/organ system of choice. For example “splice variant AND heart” or “splice variant AND endocrine”

Week 9 Original Post – Choose an article and submit an original post that contains the following sections:

1. Article link: Provide a link to the article or attach a complete copy of the article for your classmates.
2. Citation: Give the complete APA citation for the article including title, author(s), date, publisher, etc.
3. Summary: In your own words, summarize the main points of the article.
   ○ NOTE: Use of an AI tool to summarize your article for you will result in an automatic zero.
4. Relevance: What are the most important things you have learned from the article? How do they relate to our course?
5. Approach: Do you feel that the researchers used an appropriate experimental approach in their study to address their hypothesis?