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Increased DNA methylation in the spermatogenesis‐associated (SPATA) genes correlates with infertility
Author(s) -
Sujit Kumar Mohanty,
Singh Vertika,
Trivedi Sameer,
Singh Kiran,
Gupta Gopal,
Rajender Singh
Publication year - 2020
Publication title -
andrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.947
H-Index - 43
eISSN - 2047-2927
pISSN - 2047-2919
DOI - 10.1111/andr.12742
Subject(s) - biology , dna methylation , male infertility , methylation , infertility , genetics , andrology , gene , sperm , gene expression , medicine , pregnancy
Background Spermatogenesis‐associated (SPATA) family of genes plays important roles in spermatogenesis, sperm maturation or fertilization. The knockout studies in mice have demonstrated that SPATA genes are crucial for fertility. Gene expression and genetic polymorphism studies have further suggested their correlation with infertility; however, methylation analysis of SPATA genes in human male infertility has not yet been undertaken. Objectives To analyze the methylation status of SPATA4, SPATA5 and SPATA6 genes in oligozoospermic male infertility. Materials and methods In the present study, we have analyzed DNA methylation pattern in the promoter regions of SPATA4, SPATA5 and SPATA6 genes in oligozoospermic patients and compared it with normozoospermic fertile controls. Semen samples were obtained from 30 oligozoospermic infertile and 19 normozoospermic fertile controls, and DNA methylation levels of the target gene promoters were analyzed by amplicon based deep sequencing methylation analysis using MiSeq. Results SPATA4 ( P < 0.0008), SPATA5 ( P = 0.009) and SPATA6 (Promoter, P < 0.0005; Exon 1, P = 0.0128) genes were significantly hypermethylated in oligozoospermic patients in comparison to controls. This is the first study reporting a higher methylation in the promoters of SPATA4, SPATA5 and SPATA6 in oligozoospermic infertile individuals in comparison to the normozoospermic fertile controls. Discussion Altered methylation of SPATA genes would affect pathways involved in sperm production or affect various processes linked to sperm fertility. Conclusion In conclusion, hypermethylation in the SPATA4, SPATA5 and SPATA6 genes correlates with oligozoospermic infertility.