Project titleHow do Single Nucleotides Polymorphisms in the 5’ Untranslated Region of BRCA1 and BRCA 2 Messenger RNAs Affect Their Structure.

Breast cancer mortality is one of the highest cancer-related death rates in the world. Breast, ovarian, and pancreatic cancers are more common in people who carry  BRCA1 or BRCA2 genetic mutations. Under normal conditions, these genes prevent cancer development as it is a tumor suppressor gene (Tung & Garber, 2018). BRCA 2 helps with DNA repair by producing proteins that act as key enzymes in homologous recombination pathways which repair DNA double-strand (DS) breaks. If BRCA2 is mutated to a point where it does not function properly, it will not be able to repair DNA, so the cell will switch to less accurate and more error-prone repair machinery and this can lead to more mutation that will lead to tumorigenesis (Tung & Garber, 2018). The 5'UTR and 3'UTR are not translated, although the coding area can be transcribed. They play a key role in mRNA localization and stabilization, as well as translational efficiency, and all of these functions are influenced by the nucleotide sequence and secondary structure. 

Although the function of the BRCA2 5' UTR in post-transcriptional regulation of protein translation efficiency is unknown, computational techniques can help determine the UTR's importance. As a result, this experiment will aid in identifying how single-point mutations in the RNA transcriptome alter secondary structures. The goal of this research is to characterize the secondary structure of the wild-type (WT) 5’ untranslated region (UTR) of BRCA2 messenger RNA and consequently observe if the SNP at position 29, 31 and 57 changes the overall structure or fold of the UTR using a technique known as Selective 2’-hydroxyl Acylation Analyzed by Primer Extension or SHAPE. 

Primary contact nameFiza Tarlochan
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Primary contact mobile phone+974 50406244
Other student team members
Student name Email Phone
Yahya ElKhatib +974 7404 0938
Eaint Thet Su +974 5038 3354
Students/participant(s) programs
  • Biological Sciences
Faculty advisor(s)
Advisor name Email Affiliation
Ravichandra Bachu Carnegie Mellon University, Qatar
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  • Biological Sciences