Evaluation of genetic variations in intron 28 and exon 29 of SPEF2 gene in infertile men with immotile short tail sperm (ISTS)

Background: One of the main causes of male infertility is immotile short tail sperm (ISTS). Numerous proteins are involved in sperm tail formation. One of these proteins is sperm flagellar 2 (SPEF2). The C-terminal part of SPEF2 (SPEF2-C) could have a main role in cilia development. The purpose of this study was to evaluate the genetic variations of intron 28 and exon 29 of SPEF2 gene in infertile men with ISTS defect.Methods: In this study, 30 infertile men with ISTS (above 80%) and 30 normozospermic men as control were recruited. To study the genetic variations, DNA was extracted from peripheral blood, and then PCR sequencing was done.Result: Sequence analysis did not identify any mutations or single-nucleotide polymorphisms (SNPs) in exons 29, but an intronic variant (rs11749262, A> G) was found in heterozygote and homozygotes forms in 9 and 1 patient with short tail sperm respectively. This intronic variation also was found in both heterozygote and homozygote forms respectively in 11 and 9 persons of control group.Conclusion: Although former studies revealed the loss of the SPEF2 gene causes a decline in elongating spermatids during spermiogenesis and fault in the formation of sperm tail in other species such as boar, present data identified no mutations or SNPs in SPEF2 gene in human. However, SPEF2 gene is extensive and has many exons, thus assessment of other exons and promoter is necessary to make sure of involvement of SPEF2 in ISTS in human.

کلیدواژه ها:

Intronic variant ، ISTS ، SPEF2 ، Male infertility