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Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure
- Source :
- MHR: Basic science of reproductive medicine. 11:129-132
- Publication Year :
- 2005
- Publisher :
- Oxford University Press (OUP), 2005.
-
Abstract
- SLC26A8 is an anion transporter that is solely expressed in the testes. It interacts with MgcRacGAP that shows strong structural similarity with the Drosophila protein RotundRacGAP, which is established to have an essential role for male fertility in the fruit fly. To explore whether the SLC26A8 gene has a role in human male infertility, we performed mutational analysis in the coding region of the SLC26A8 gene in 83 male infertility patients and two groups of controls using single-strand conformational polymorphism and direct sequencing methods. We found six novel coding sequence variations, of which five lead to amino acid substitutions. All variants were found with similar frequencies in both patients and controls, thus suggesting that none of them may be causally associated with infertility. We conclude that the SLC26A8 mutations are not a common cause of male infertility.
- Subjects :
- Adult
Male
Infertility
Embryology
Candidate gene
media_common.quotation_subject
Anion Transport Proteins
DNA Mutational Analysis
Fertility
Antiporters
Male infertility
03 medical and health sciences
Gene Frequency
Genetics
medicine
Humans
Coding region
Spermatogenesis
Molecular Biology
Gene
Infertility, Male
Polymorphism, Single-Stranded Conformational
030304 developmental biology
media_common
0303 health sciences
biology
030302 biochemistry & molecular biology
Obstetrics and Gynecology
Cell Biology
Middle Aged
medicine.disease
biology.organism_classification
Open reading frame
Amino Acid Substitution
Reproductive Medicine
Sulfate Transporters
Drosophila melanogaster
Developmental Biology
Subjects
Details
- ISSN :
- 14602407 and 13609947
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- MHR: Basic science of reproductive medicine
- Accession number :
- edsair.doi.dedup.....c18ac70ed00f153041520d172972ccd6