Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Dec 6;20(1):940.
doi: 10.1186/s12864-019-6317-6.

Epigenetic analysis of high and low motile sperm populations reveals methylation variation in satellite regions within the pericentromeric position and in genes functionally related to sperm DNA organization and maintenance in Bos taurus

Emanuele Capra  1 , Barbara Lazzari  1 , Federica Turri  1 , Paola Cremonesi  1 , Antônia Moemia Rodrigues Portela  2 , Paolo Ajmone-Marsan  3   4 , Alessandra Stella  1 , Flavia Pizzi  5
Affiliations

Epigenetic analysis of high and low motile sperm populations reveals methylation variation in satellite regions within the pericentromeric position and in genes functionally related to sperm DNA organization and maintenance in Bos taurus

Emanuele Capra et al. BMC Genomics. .

Abstract

Background: Sperm epigenetics is an emerging area of study supported by observations reporting that abnormal sperm DNA methylation patterns are associated with infertility. Here, we explore cytosine-guanine dinucleotides (CpGs) methylation in high (HM) and low motile (LM) Bos taurus sperm populations separated by Percoll gradient. HM and LM methylation patterns were investigated by bisulfite sequencing.

Results: Comparison between HM and LM sperm populations revealed that methylation variation affects genes involved in chromatin organization. CpG Islands (CGIs), were highly remodelled. A high proportion of CGIs was found to be methylated at low/intermediate level (20-60%) and associated to the repetitive element BTSAT4 satellite. The low/intermediate level of methylation in BTSAT4 was stably maintained in pericentric regions of chromosomes. BTSAT4 was hypomethylated in HM sperm populations.

Conclusions: The characterization of the epigenome in HM and LM Bos taurus sperm populations provides a first step towards the understanding of the effect of methylation on sperm fertility. Methylation variation observed in HM and LM populations in genes associated to DNA structure remodelling as well as in a repetitive element in pericentric regions suggests that maintenance of chromosome structure through epigenetic regulation is probably crucial for correct sperm functionality.

Keywords: Epigenetic; Methylation; Motility; Satellite; Sperm.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Distribution of methylation sites: gene bodies (GENE), 5’UTR, 3’UTR and CpG island (CGI). Methylated regions (MRs) were stratified based on the average methylation level of CpGs (ranging from 0 to 100%)
Fig. 2
Fig. 2
Hierarchical clustering for (DMRs) found in gene bodies, 5’UTR, 3’UTR and CGIs. HM and LM sperm populations were compared and 20 most hyper and 20 most hypo methylated DMRs from each comparison were used for clustering samples
Fig. 3
Fig. 3
Distribution of CGIs length for Methylated regions (MRs) grouped based on CpG methylation level for HM and LM sperm populations. Methylated regions (MRs) were stratified based on the average methylation level of CpGs (ranging from 0 to 100%). a CGIs size between 0 and 10 Kbp, b CGIs size between 10 and 240 Kbp
Fig. 4
Fig. 4
Distribution of methylation sites in BTSA4. Methylated regions (MRs), left panel, and differentially methylated region (DMRs), right panel, were stratified based on the average methylation level of CpGs (ranging from 0 to 100%) for HM and LM sperm populations
See this image and copyright information in PMC

References

    1. Gianotten J, Lombardi MP, Zwinderman AH, Lilford RJ, Van der Veen F. Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding. Hum Reprod Update. 2004;10:533–539. doi: 10.1093/humupd/dmh045. - DOI - PubMed
    1. Tahmasbpour E, Balasubramanian D, Agarwal A. A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART) J Assist Reprod Genet. 2014;31:1115–1137. doi: 10.1007/s10815-014-0280-6. - DOI - PMC - PubMed
    1. Chenoweth PJ. Influence of the male on embryo quality. Theriogenology. 2007;68:308–315. doi: 10.1016/j.theriogenology.2007.04.002. - DOI - PubMed
    1. Parkinson TJ. Evaluation of fertility and infertility in natural service bulls. Vet J. 2004;68:215–229. doi: 10.1016/j.tvjl.2003.10.017. - DOI - PubMed
    1. De Jonge C. Attributes of fertility spermatozoa: an update. J Androl. 1999;20:463–473. - PubMed

LinkOut - more resources