Bioinformatics analysis and verification of hub genes in 46,XY, disorders of sexual development.
Reprod Fertil Dev
; 35(5): 353-362, 2023 Mar.
Article
em En
| MEDLINE
| ID: mdl-36780715
CONTEXT: 46,XY, disorders of sexual development (46,XY, DSD) is a congenital genetic disease whose pathogenesis is complex and clinical manifestations are diverse. The existing molecular research has often focused on single-centre sequencing data, instead of prediction based on big data. AIMS: This work aimed to fully understand the pathogenesis of 46,XY, DSD, and summarise the key pathogenic genes. METHODS: Firstly, the potential pathogenic genes were identified from public data. Secondly, bioinformatics was used to predict pathogenic genes, including hub gene analysis, protein-protein interaction (PPI) and function enrichment analysis. Lastly, the genomic DNA from two unrelated families were recruited, next-generation sequencing and Sanger sequencing were performed to verify the hub genes. KEY RESULTS: A total of 161 potential pathogenic genes were selected from MGI and PubMed gene sets. The PPI network was built which included 144 nodes and 194 edges. MCODE 4 was selected from PPI which scored the most significant P -value. The top 15 hub genes were ranked and identified by Cytoscape. Furthermore, three variants were found on SRD5A2 gene by genome sequencing, which belonged to the prediction hub genes. CONCLUSIONS: Our results indicate that occurrence of 46,XY, DSD is attributed to a variety of genes. Bioinformatics analysis can help us predict the hub genes and find the most core network MCODE model. IMPLICATIONS: Bioinformatic predictions may provide a novel perspective on better understanding the pathogenesis of 46,XY, DSD.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
/
Mapas de Interação de Proteínas
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Reprod Fertil Dev
Assunto da revista:
MEDICINA REPRODUTIVA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
China