Evaluation of L1 insertion in intron 30 of SPEF2 gene in infertile men with immotile short tail sperm

Background: Immotile short tail sperm is a morphologic disorder that leads to male infertility. Numerous proteins are involved in sperm tail formation. The sperm flagella 2 (SPEF2) gene have a main role in cilia development. In pigs, the causal mutation for this defect was a recent large insertion in intron 30 within the SPEF2 gene in chromosome 16. In human, little information on the SPEF2 gene has been reported, and no reports on genetic variations have been published. The aim of this study was to evaluate intronic insertion in SPEF2 gene in two groups of control and infertile men with ISTS.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 mutations (L1 insertion) within intron 30 of SPEF2 gene in control and patients groups.Conclusion: Although previous studies have reported that the presence of an insert retrotransposon within an intron causes immotile short-tailed sperm in pigs, present data identified no L1 insertion in SPEF2 gene in human. In pigs, data showed that the presence of the L1 affects by some mechanism the expression patterns upstream of the insertion site. However, SPEF2 gene has many exons, thus assessment of other exons and regulatory areas is necessary to make sure of involvement of SPEF2 in ISTS in human.

کلیدواژه ها:

Intron 30 ، ISTS ، L1 insertion. ، SPEF2 ، Male infertility