The repository is for the investigation the role of UBE2A gene in pathogenesis of X-linked Intellectual Disability type Nascimento using Differential Expression Analysis.
Nascimento syndrome is a rare form of X-linked intellectual disability. First described by Rafaella Nascimento in 2006, it is characterised by delayed intellectual and cognitive development. The syndrome is associated with loss-of-function mutations in the UBE2A gene, which encodes the ubiquitin-conjugating enzyme E2A. However, the functions of UBE2A in neurogenesis are poorly understood. This study aims to establish relevant cellular models with UBE2A gene dosage changes and the Nascimento syndrome patient cell line to reveal the association of UBE2A with Nascimento syndrome and its impact on neural development using differential expression analysis.
- code
- salmon_script.sh
- DESeq2_pairwise_script.Rmd
- DESeq2_multisampling.Rmd
- salmon_environment.yaml
- README.md
- README.md
git clone git@github.com:Alisa411/UBE2A_project.git
cd UBE2A_project
Fedorenko A.1,2,4, Smirnov D.4, Sekretova E.2, Khomyakova E.2, Surdina A.2, Smirnov I.2, Lebedev I.3, Lagarkova M.2, Bogomazova A. 2,3
- Bioinformatics Institute, Kantemirovskaya st. 2A, 197342, St. Petersburg, Russia
- Lopukhin Federal Research Clinical Center of Physical and Chemical Medicine, Department of Cell Biology, Malaya Pirogovskaya, 1a, 119435, Moscow, Russia
- Tomsk National Research Medical Center, The Research Institute of Medical Genetics, Department of Ontogenetics, Nab. Ushaiki 10, 634050, Tomsk, Russia
- Skolkovo Institute of Science and Technology, Bolshoy Boulevard 30p.1, 121205, Moscow, Russia
If you have any questions do not hesitate to contact me via email: afedorenko00@gmail.com