AiS Challenge Team Abstract

Team Number: 071

School Name: Sandia Prep School

Area of Science: Biochemistry

Project Title: Identifying Alternative Gene Splicing in Human Chromosome 21

 

 


Our progect is to identify alternative splicing in human chromosome 21. This chromosome was chosen because it is the smallest somatic human chromosome. Identifying alternative splicing of its genes will still require significant computing resources. Alternative splicing is used by eukaryotic cells to control sequences of mRNA after template DNA has been transcribed into a primary RNA transcript. The existence of multiple but distinct mRNA products from a single DNA template is called alternative splicing. Each of the distinct mRNAs is later translated into different proteins by the ribosomes. Alternative splicing is a biological process that allows one gene to code for multiple proteins. We plan on writing a program to identify alternatively spliced sequences by comparing cDNA and genomic sequences using the Smith-Waterman algorithm [1]. This will enable us to determine the existence and location of exons and introns. If an exon is found to overlap an intron we will have positive evidence for alternative splicing. Alternative splicing is known to play an important role in the immune system and is involved in 5-30% of human genes, and perhaps even more [2]. We hope to find examples of alternative splicing in genes located in human chromosome 21 known to contribute to various disease states. If we do, we can then turn this information over to wet lab biologists for further study. The role of alternative gene splicing in disease expression is also of interest to the pharmaceutical industry as they seek out new drug targets.

1. T.F. Smith and M.S. Waterman. (1981) "Identification of common molecular subsequences", Journal of Molecular Biology, 147:195-197.

2. Barmak Modrek, et. al. (2001) "Genome-wide detection of alternative splicing in expressed sequences of human genes." Nucleic Acids Research, 29:2850-2859.


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