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      Loss‐of‐function mutation in TSGA10 causes acephalic spermatozoa phenotype in human

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          Abstract

          Background

          Acephalic spermatozoa is an extremely rare type of teratozoospermia that is associated with male infertility. Several genes have been reported to be relevant to acephalic spermatozoa. Thus, more genetic pathogenesis needs to be explored.

          Methods

          Whole‐exome sequencing was performed in a patient with acephalic spermatozoa. Then Sanger sequencing was used for validation in the patient and his family. The patient's spermatozoa sample was observed by papanicolaou staining and transmission electron microscopy. Western blot and immunofluorescence were performed to detect the level and localization of related proteins.

          Results

          A novel homozygous frameshift insertion mutation c.545dupT;p.Ala183Serfs*10 in exon 8 of TSGA10 (NM_001349012.1) was identified. Our results showed misarranged mitochondrial sheath and abnormal flagellum in the patient's spermatozoa. TSGA10 failed to be detected in the patient's spermatozoa. However, the expression of SUN5 and PMFBP1 remained unaffected.

          Conclusion

          These results suggest that the novel homozygous frameshift insertion mutation of TSGA10 is a cause of acephalic spermatozoa.

          Abstract

          A novel homozygous frameshift insertion mutation c.545dupT;p.Ala183Serfs*10 in exon 8 of TSGA10 (NM_001349012.1) was identified, which might be the main pathogenesis of the patient with acephalic spermatozoa.

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          A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF).

          Yan-Wei Sha, Xiaohui Xu, Li-Bin Mei … (2017)
          Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease associated with primary infertility; however, ~50% of the genetic alterations associated with MMAF remain unclear. Here, we reported the case of a 30-year-old infertile male from a consanguineous family. Whole-exome sequencing identified a homozygous mutation in the CEP135 gene (c.A1364T:p.D455V), with CEP135 previously reported to play a role in centriole biogenesis and specifically central pair assembly. D455V-mutated proteins formed protein aggregates in the centrosome and the flagella, which might potentially affect the function of centriole assembly. Moreover, intracytoplasmic sperm injection was performed using sperm from this patient; however, pregnancy failed following embryo transfer. This represents the first report of a homozygous mutation of CEP135 associated with MMAF. These results provide researchers and clinicians with a deeper understanding of the gene involved with MMAF and will help predict and assess pregnancy outcomes associated with in vitro fertilization.
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            Essential role for SUN5 in anchoring sperm head to the tail

            Yongliang Shang, Fuxi Zhu, Lina Wang … (2017)
            SUN (Sad1 and UNC84 domain containing)-domain proteins are reported to reside on the nuclear membrane playing distinct roles in nuclear dynamics. SUN5 is a new member of the SUN family, with little knowledge regarding its function. Here, we generated Sun5−/− mice and found that male mice were infertile. Most Sun5-null spermatozoa displayed a globozoospermia-like phenotype but they were actually acephalic spermatozoa. Additional studies revealed that SUN5 was located in the neck of the spermatozoa, anchoring sperm head to the tail, and without functional SUN5 the sperm head to tail coupling apparatus was detached from nucleus during spermatid elongation. Finally, we found that healthy heterozygous offspring could be obtained via intracytoplasmic injection of Sun5-mutated sperm heads for both male mice and patients. Our studies reveal the essential role of SUN5 in anchoring sperm head to the tail and provide a promising way to treat this kind of acephalic spermatozoa-associated male infertility.
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              Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome

              Chao Liu, Fuxi Zhu, Yongliang Shang … (2018)
              Acephalic spermatozoa syndrome is a severe teratozoospermia that leads to male infertility. Our previous work showed that biallelic SUN5 mutations are responsible for acephalic spermatozoa syndrome in about half of affected individuals, while pathogenic mechanisms in the other individuals remain to be elucidated. Here, we identified a homozygous nonsense mutation in the testis-specific gene PMFBP1 using whole-exome sequencing in a consanguineous family with two infertile brothers with acephalic spermatozoa syndrome. Sanger sequencing of PMFBP1 in ten additional infertile men with acephalic spermatozoa syndrome and without SUN5 mutations revealed two homozygous variants and one compound heterozygous variant. The disruption of Pmfbp1 in male mice led to infertility due to the production of acephalic spermatozoa and the disruption of PMFBP1’s cooperation with SUN5 and SPATA6, which plays a role in connecting sperm head to the tail. PMFBP1 mutation-associated male infertility could be successfully overcome by intracytoplasmic sperm injection (ICSI) in both mouse and human. Thus, mutations in PMFBP1 are an important cause of infertility in men with acephalic spermatozoa syndrome.
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                Author and article information

                Contributors
                Youzhu Li:
                ORCID: https://orcid.org/0000-0002-7068-3885
                232398106@qq.com
                Journal
                Journal ID (nlm-ta): Mol Genet Genomic Med
                Journal ID (iso-abbrev): Mol Genet Genomic Med
                Journal ID (doi): 10.1002/(ISSN)2324-9269
                Journal ID (publisher-id): MGG3
                Title: Molecular Genetics & Genomic Medicine
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2324-9269
                Publication date (Electronic): 15 May 2020
                Publication date Collection: July 2020
                Volume: 8
                Issue: 7 ( doiID: 10.1002/mgg3.v8.7 )
                Electronic Location Identifier: e1284
                Affiliations
                [ 1 ] Reproductive Medicine Center The First Affiliated Hospital of Xiamen University Xiamen China
                [ 2 ] School of Pharmaceutical Sciences Xiamen University Xiamen China
                [ 3 ] Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital Xiamen China
                [ 4 ] Intensive Care Unit Fujian Medical University Xiamen Humanity Hospital Xiamen China
                [ 5 ] Department of Gynecology Second Hospital of Jilin University Changchun China
                [ 6 ] Center for Reproductive Medicine the 174th Hospital of People's Liberation Army Xiamen China
                Author notes
                [*] [* ] Correspondence

                Youzhu Li, Reproductive Medicine Center, The First Affiliated Hospital of Xiamen University, NO.6 Guchengxi Road, Si Ming, Xiamen 361005, P.R. China.

                Email: 232398106@ 123456qq.com

                Author information
                https://orcid.org/0000-0002-7068-3885
                Article
                Publisher ID: MGG31284
                DOI: 10.1002/mgg3.1284
                PMC ID: 7336754
                PubMed ID: 32410354
                SO-VID: 219720f1-2ba1-422b-b7f6-2df2f7177ada
                Copyright © © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                Date received : 15 April 2019
                Date revision received : 31 March 2020
                Date accepted : 01 April 2020
                Page count
                Figures: 5, Tables: 4, Pages: 11, Words: 5428
                Funding
                Funded by: Young Scientists Fund of the National Natural Science Foundation of China
                Award ID: 81701419
                Funded by: National Natural Science Foundation of China , open-funder-registry 10.13039/501100001809;
                Award ID: 81871161
                Funded by: Tong Yi Tang pharmaceutical co., Ltd
                Categories
                Subject: Original Article
                Subject: Original Articles
                Custom metadata
                source-schema-version-number 2.0
                cover-date July 2020
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:5.8.5 mode:remove_FC converted:06.07.2020

                Keywords: acephalic spermatozoa,frameshift mutation,tsga10,whole‐exome sequencing
                Data availability:
                Keywords: acephalic spermatozoa, frameshift mutation, tsga10, whole‐exome sequencing

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