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Tuesday, July 28 • 12:20 - 12:25
RAD54L mutations lead to adenocarcinomas due to the formation of recombinant DNA intermediates

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As Gary LeRoy et al. (2005) showed in a recent study demonstration of ATP-dependent activity of HJ moving branches from immunopurified FLAG-labeled RecQL1 eluate using the example of the human gene RAD54L. Also in the UCSC genome browser presented many publications related to mutant gene activity, which indicates the biomedical potential of the study of this gene.
Data were collected and maintained by the UCSC Genome Browser. For the gene under consideration, most matches with Human mRNA were found in the NCBI RefSeq, UCSC genes, and GENCODE databases. The ratio of most introns and exons (only the initial ones have different lengths), their length corresponds to Human mRNA and Human EST. When considering the RAD54L gene with different annotations in RefSeq, it is impossible to give an accurate assessment of the comparison with the experimental and predicted RNAs with PolyA end (there are no such RNAs). According to the RAD54L gene, sequencing in the cell culture K562 PolyA + predominates, found many pseudogenes. Most of the transcript is located in the cytosol and nucleosome. The expression level for CAGE is most observed in the nucleosome and cytosol.
The results revealed that this gene in the annotations was reasonably correctly calculated and interpreted. A large number of peptides are observed for the RAD54L gene, a high level of ribosomal profiling signals that coincide with the exon structure of the gene, therefore it is a protein-coding gene. According to COSMIC, multiple mutations were identified that correspond to all exons of the gene in endometrial and lung tumor diseases. Adenocarcinoma, colonic, somatic, Lymphoma, non-Hodgkin, Breast cancer, invasive ductal were found in the OMIM database.
Based on the results obtained, it can be argued that this RAD54L gene encodes a protein, which is an important link in many physiological, functional and pathological processes in the human body. The mutational activity of this gene is highly likely to lead to the development of pathologies of different genesis: the analysis showed an effect on the oncogenic process, the development of somatic diseases. It has a large role in the development of hereditary diseases. In conclusion, there is a sufficient number of publications on the information of this gene, which indicates possible promising studies of biomedicine in terms of prevention and treatment of somatic and oncogenic diseases of humans.

Posters
avatar for Bogdan Shcheglov

Bogdan Shcheglov

Student, Far Eastern Federal University



Tuesday July 28, 2020 12:20 - 12:25 MSK
Zoom Conference https://zoom.us/j/94321101353?pwd=QlJBb09uM0NVVnVyK0FkbTJ3Nkcrdz09