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  • Loss-of-function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.

Loss-of-function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.

Molecular genetics & genomic medicine (2020-05-16)
Yuanyuan Ye, Xiaoli Wei, Yanwei Sha, Na Li, Xiaohong Yan, Ling Cheng, Duanrui Qiao, Weidong Zhou, Rongfeng Wu, Qiaobin Liu, Youzhu Li
ABSTRACT

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

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Bovine Serum Albumin, chromatographically purified, New Zealand origin, low endotoxin, suitable for cell culture, pH 7, ≥98%
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Formaldehyde solution, for molecular biology, 36.5-38% in H2O
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Triton X-100 solution, BioUltra, for molecular biology, ~10% in H2O
Sigma-Aldrich
Normal Goat Serum, This Normal Goat Serum is validated for use as a negative control in any application.
Sigma-Aldrich
Triton X-100, laboratory grade