• PMID: 17327269
• Gene Name: EHD1
• Condition: Teratozoospermia
• Association: Associated
• Population size: 19
• Population details: 19 (6 controls, 13 cases)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: GSE6872 analyzed by GEO2R (cutoff 1.5 fold)

Success and failure in human spermatogenesis as revealed by teratozoospermic RNAs

Platts AE, Dix DJ, Chemes HE, Thompson KE, Goodrich R, Rockett JC, Rawe VY, Quintana S, Diamond MP, Strader LF, Krawetz SA.

We are coming to appreciate that at fertilization human spermatozoa deliver the paternal genome alongside a suite of structures, proteins and RNAs. Although the role of some of the structures and proteins as requisite elements for early human development has been established, the function of the sperm-delivered RNAs remains a point for discussion. The presence of RNAs in transcriptionally quiescent spermatozoa can only be derived from transcription that precedes late spermiogenesis. A cross-platform microarray strategy was used to assess the profile of human spermatozoal transcripts from fertile males who had fathered at least one child compared to teratozoospermic individuals. Unsupervised clustering of the data followed by pathway and ontological analysis revealed the transcriptional perturbation common to the affected individuals. Transcripts encoding components of various cellular remodeling pathways, such as the ubiquitin-proteosome pathway, were severely disrupted. The origin of the perturbation could be traced as far back as the pachytene stage of spermatogenesis. It is anticipated that this diagnostic strategy will prove valuable for understanding male factor infertility. FAU - Platts, Adrian E AU - Platts AE AD - Department of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, Michigan, USA. FAU - Dix, David J AU - Dix DJ FAU - Chemes, Hector E AU - Chemes HE FAU - Thompson, Kary E AU - Thompson KE FAU - Goodrich, Robert AU - Goodrich R FAU - Rockett, John C AU - Rockett JC FAU - Rawe, Vanesa Y AU - Rawe VY FAU - Quintana, Silvina AU - Quintana S FAU - Diamond, Michael P AU - Diamond MP FAU - Strader, Lillian F AU - Strader LF