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Abstract
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DNA repair processes are critical to maintaining genomic integrity. As a result,
dysregulation of repair genes is likely to be linked with health implications, such as
an increased prevalence of infertility and an accelerated rate of aging. We evaluated
all the DNA repair genes (322 genes) by microarray. This study has provided insight
into the connection between DNA repair genes, including RAD23B, OBFC2A, PMS1,
UBE2V1, ERCC5, SMUG1, RFC4, PMS2L5, MMS19, SHFM1, INO80, PMS2L1, CHEK2,
TRIP13, and POLD4. The microarray analysis of six human cases with different
nonobstructive azoospermia revealed that RAD23B, OBFC2A, PMS1, UBE2V1,
ERCC5, SMUG1, RFC4, PMS2L5, MMS19, SHFM1, and INO80 were upregulated,
and expression of PMS2L1, CHEK2, TRIP13, and POLD4 was downregulated versus
the normal case. For this purpose, Enrich Shiny GO, STRING, and Cytoscape online
evaluation was applied to predict proteins’ functional and molecular interactions and
then performed to recognize the master pathways. Functional enrichment analysis
revealed that the biological process (BP) terms “base‐excision repair, AP site
formation,” “nucleotide‐excision repair, DNA gap filling,” and “nucleotide‐excision
repair, preincision complex assembly” was significantly overexpressed in upregulated
differentially expressed genes (DEGs). BP analysis of downregulated DEGs
highlighted “histone phosphorylation,” “DNA damage response, detection DNA
response,” “mitotic cell cycle checkpoint signaling,“ and “double‐strand break
repair.” Overrepresented molecular function (MF) terms in upregulated DEGs
included “Oxidized base lesion DNA N‐glycosylase activity,” “uracil DNA
N‐glycosylase activity,” “bubble DNA binding” and “DNA clamp loader activity.”
Interestingly, MF investigation of downregulated DEGs showed overexpression
in “heterotrimeric G‐protein complex,” “5′‐deoxyribose‐5‐phosphate lyase activity,”
“minor groove of adenine‐thymine‐rich DNA binding,” and “histone kinase
activity.” Our findings suggest that t
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