Variants in DPF3 and DSCAML1 are associated with sperm morphology

Abstract

Purpose Abnormalities in semen parameters are often associated with reduced fertility in males, and may, in part, be attributed to genetic variation. Aim of this study is to determine if genetic variants that were previously shown to be predictors of family size and birth rate in healthy men are also associated with sperm morphology in men recruited from an infertility laboratory. Methods Genetic associations with sperm morphology phenotypes in 126 ethnically diverse men from Chicago at 41 independent loci, previously shown to be predictors of family size and birth rate in healthy men, were tested. Results Two intronic SNPs, rs680730 (in DSCAML1 ) and rs10129954 (in DPF3), were associated with the percent of normal sperm morphology in Chicago men (P =0.017 and 0.023, respectively). Furthermore, both loci were associated with increased occurrence of sperm head defects. Conclusions SNPs in two genes, both of which have roles in nervous system development, were associated with poor sperm morphology. These results may be helpful in identification of other novel genes and biological pathways whose proper functioning is crucial for sperm production and male reproductive processes.

Comparison of three different staining methods for the morphometric characterization of Alpaca (Vicugna pacos) sperm, using ISAS® CASA-Morph system

“…Semen analysis is the way to determine the potential fertility of a male. Traditionally, sperm concentration, motility and morphology are the basic characteristics included in a spermiogram for all mammalian species, among which sperm morphology is most relevant with the genetics of the male (Landry et al, 2003;Sun, Ko & Martin, 2006;Kosova et al, 2014;Ray et al, 2017).…”

Strong association of SLC1A1 and DPF3 gene variants with idiopathic male infertility in Han Chinese

“…We also found that semen progressive motility (Grade a + b) was greatly reduced in CT heterozygotes ( P = 0.0003) and the concentration of semen in CT heterozygotes was also low ( P = 0.0319). DPF3 encodes a member of the D4 protein family of zinc finger proteins which is implicated as an epigenetic factor specifically binding acetylated and methylated lysine residues of histone 3 and histone 4 to provide easy access of transcription factors to DNA 1516…”

“…Our results indicated that rs10129954 in an intron of the DPF3 gene was correlated with both poor motility and sperm count. Kosova et al 616. found rs10129954 associated with total motile count, beat frequency and linearity, and sperm morphology in men from Chicago.…”

Genome-wide association study for semen traits of the bulls in Chinese Holstein

“…The DSCAML1 gene, 6 Mb away from the significant SNP BTA‐123344‐no‐rs , was found to increase the occurrence of sperm head defects and to be associated with poor sperm morphology, sperm production and the male reproductive process (Kosova et al . ).…”