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The heterozygous mutations of SLC26A8 are not the main actors but might be the guest players for male infertility
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  • Mohan Liu,
  • Jinhui Li,
  • Yaqian Li,
  • Chuan Jiang,
  • Wenming Xu,
  • Yihong Yang,
  • Ying Shen
Mohan Liu
Sichuan University

Corresponding Author:[email protected]

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Jinhui Li
Sichuan University
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Yaqian Li
Sichuan University
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Chuan Jiang
Sichuan University
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Wenming Xu
Sichuan University West China Second University Hospital
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Yihong Yang
Sichuan University
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Ying Shen
Sichuan University
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Male infertility has become a serious health and social problem troubling approximately 15% of couples worldwide; however, the genetic and phenotypic heterogeneity of human infertility poses a substantial obstacle to effective diagnosis and therapy. A previous study reported that heterozygous mutations in solute carrier family 26 member 8 (SLC26A8, NG_033897.1) were causatively linked to asthenozoospermia. Interestingly, in our research, three deleterious heterozygous mutations of SLC26A8 were separately detected in three unrelated patients who were suffered from teratozoospermia. These three heterozygous mutations resulted in the reduce of SLC26A8 expression in transfected cells, while no disrupt expression of SLC26A8 was observed in sperm from the affected individuals. Noticeably, two of the three SLC26A8 heterozygous mutations detected in the patients were inherited from their fertile fathers. Thus, we suggested that male infertility associated with SLC26A8 mutations should be involved in a recessive-inherited pattern, considering the infertile homozygous Slc26a8 KO male mice. Given that SLC26A8 heterozygous mutations were detected in the infertile patients, and SLC26A8 is predominantly expressed in the various germ cells during spermatogenesis, the heterozygous mutations in SLC26A8 may not be the direct genetic cause but contribute to male infertility to a certain degree.
16 Nov 2021Submitted to Human Mutation
18 Nov 2021Submission Checks Completed
18 Nov 2021Assigned to Editor
20 Nov 2021Reviewer(s) Assigned
08 Dec 2021Review(s) Completed, Editorial Evaluation Pending
09 Dec 2021Editorial Decision: Revise Major
28 Jan 20221st Revision Received
01 Feb 2022Submission Checks Completed
01 Feb 2022Assigned to Editor
01 Feb 2022Reviewer(s) Assigned
13 Feb 2022Review(s) Completed, Editorial Evaluation Pending
17 Feb 2022Editorial Decision: Accept