Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene...

Area of Science:

• Genomics
• Molecular Biology
• Oncology

Background:

• High-throughput sequencing identified a higher mutation frequency in the Nebulin gene (NEB) at amino acid 1133 in thyroid cancer patients compared to the normal population.
• This finding suggests a potential association between NEB mutations and the development of thyroid cancer.

Purpose of the Study:

• To investigate the role of Nebulin gene (NEB) mutations in thyroid cancer development.
• To analyze the impact of NEB mutations on gene expression in the thyroid gland using a mouse model.

Main Methods:

• High-throughput sequencing of RNA from wild-type and NEB mutant mouse thyroids.
• Differential gene expression analysis using edgeR software.
• Quantitative real-time PCR (qRT-PCR) for verification of differentially expressed genes.
• Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis.

Main Results:

• A total of 624 significantly enriched differentially expressed genes were identified in NEB mutant mice.
• Enrichment analysis revealed significant pathways related to thyroid cancer, myocardial contraction, and autoimmune thyroid disease.
• qRT-PCR results validated the findings from high-throughput sequencing.

Conclusions:

• NEB mutant mice exhibit significant changes in the expression of cancer-driving and cancer suppressor genes compared to wild-type mice.
• The Nebulin gene (NEB) plays a crucial role in regulating the expression of thyroid cancer-related genes.