Investigating DCAF۱۰ Gene Expression and its Correlation with Azoospermia

Azoospermia, the complete absence of sperm in the semen, is defined as the most severeform of male infertility and accounts for ۱۰-۱۵% of all male infertility cases. This disorder can manifestin two forms: obstructive (OA) and non-obstructive (NOA)۱. Discovering the genetic factors associatedwith infertility is a major focus in the field of andrology. However, a considerable proportion ofinfertility cases, particularly those involving azoospermia, remain etiologically elusive.۲ Livingorganisms experience a plethora of DNA-damaging agents that can influence health and disease states.Robust DNA repair and damage-bypass mechanisms play a pivotal role in preserving genomic integrityby eliminating or tolerating damage, ensuring overall survival۳. Consequently, the dysregulation ofrepair genes is anticipated to be associated with health implications, including a heightenedsusceptibility to infertility. Utilizing the R programming language and Limma package, we conducteda detailed analysis of results from two microarray datasets in the "NCBI-GEO" database. These datasetsaimed to identify gene expression signatures underlying the pathogenesis of infertility, focusing onglobal gene expression profiling in testis samples from patients with severely impaired and normalspermatogenesis. The analysis resulted in a carefully curated list of around ۱۹,۰۰۰ genes. Subsequently,a compilation of DNA repair genes was acquired from the "PathCards" database. The use of R to createa Venn diagram aided in identifying common genes, suggesting the significant involvement ofexpression changes in DNA repair genes in the development of male infertility. A key gene of interestis DCAF۱۰, encoding a factor linked with crucial repair genes, CUL۴ and DDB۱. This gene showssignificant downregulation in expression levels in samples from individuals with non-obstructiveazoospermia (LogFC= -۲.۴۹, Adj.P.Val=۱.۵۹E-۱۰), suggesting its potential as a reparative geneassociated with male infertility. Therefore, DCAF۱۰ may be considered a relevant candidate genecontributing to infertility in men.

کلیدواژه ها:

Azoospermia ، DNA repair ، Male infertility ، Microarray ، R programming