EIF4G1 is a novel candidate gene associated with severe asthenozoospermia
Open Access
- 3 July 2019
- journal article
- research article
- Published by Wiley in Molecular Genetics & Genomic Medicine
- Vol. 7 (8), e807
- https://doi.org/10.1002/mgg3.807
Abstract
Background Asthenozoospermia (AZS), also known as asthenospermia, is characterized by reduced motility of ejaculated spermatozoa and is detected in more than 40% of infertile patients. Because the proportion of progressive spermatozoa in severe AZS is T: p.(Pro841Ser) (NC_000003.11: g.184043412C>T) in exon13 and c.2957C>G: p.(Ala986Gly) (NC_000003.11: g.184045117C>G) in exon17 in the eukaryotic translation initiation factor 4 gamma 1 gene (EIF4G1, RefSeq: NM_004953.4, OMIM: 600495) of the patient. Both of the mutation sites are rare and potentially deleterious. Transmission electron microscopy analysis showed a disrupted axonemal structure with mitochondrial sheath defects. The EIF4G1 protein level was extremely low, and the mitochondrial marker cytochrome c oxidase subunit 4I1 (COXIV, OMIM: 123864) and mitochondrially encoded ATP synthase 6 (ATP6, OMIM: 516060) protein levels were also decreased in the patient's spermatozoa as revealed by WB and IF analysis. This infertility associated with this condition was overcome by intracytoplasmic sperm injections, as his wife became pregnant successfully. Conclusion Our experimental findings indicate that the EIF4G1 gene is a novel candidate gene that may be relevant to severe AZS.Keywords
This publication has 47 references indexed in Scilit:
- Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human AsthenozoospermiaAmerican Journal of Human Genetics, 2013
- Translation Initiator EIF4G1 Mutations in Familial Parkinson DiseaseAmerican Journal of Human Genetics, 2011
- A case of severe asthenozoospermia: a novel sperm tail defect of possible genetic origin identified by electron microscopy and immunocytochemistryFertility and Sterility, 2011
- The poly(A)-binding protein partner Paip2a controls translation during late spermiogenesis in miceJCI Insight, 2010
- eIF4GI links nutrient sensing by mTOR to cell proliferation and inhibition of autophagyThe Journal of cell biology, 2008
- Sensorineural deafness and male infertility: a contiguous gene deletion syndromeJournal of Medical Genetics, 2007
- CorrectionJournal of Medical Genetics, 2007
- Proteomic identification of human sperm proteinsProteomics, 2006
- Mutational analysis of the DEAD-box RNA helicase eIF4AII characterizes its interaction with transformation suppressor Pdcd4 and eIF4GIRNA, 2005
- Human protein synthesis initiation factor eIF-4γ is encoded by a single gene (EIF4G) that maps to chromosome 3q27—qterGenomics, 1995