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A new hemizygous missense mutation, c.454T>C (p.S152P), in AKAP4 gene is associated with asthenozoospermia

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单位: [1]Huazhong Univ Sci & Technol,Tongji Hosp,Tongji Med Coll,Dept Urol,Wuhan,Hubei,Peoples R China [2]Huazhong Univ Sci & Technol,Tongji Med Coll,Tongji Hosp,Reprod Med Ctr,1095,Jiefang Ave,Wuhan 430030,Hubei,Peoples R China
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关键词: AKAP4 asthenozoospermia mutation p S152P PKA/PI3K

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Asthenozoospermia (ASZ) is a condition characterized by reduced forward motility of spermatozoa affecting approximately 19% of infertile men. A kinase anchor protein 4 (AKAP4) is an X-linked testis-specific gene and plays a major role in sperm motility and flagella formation. However, few studies have reported its association with ASZ. Here, we sequenced for exonic mutations of human AKAP4 gene by high-fidelity PCR/Sanger sequencing in peripheral blood samples from 150 ASZ patients and 150 fertile men. We reported the identification of three novel hemizygous mutations unique to four ASZ patients, including one patient carrying missense mutation c.454T>C (p.S152P), two patient carrying synonymous mutation c.1173T>C (p.H391H), and one patient carrying synonymous mutation c.2007 A>G (p.R669R). The p.S152P mutation was located in a precursor pro-polypeptide domain of AKAP4 protein, which was predicted to be damaging by SIFT and PolyPhen-2 and could cause the protein accumulation in the cytoplasm of COS-7 cells. The mature protein of AKAP4 was absent in spermatozoa of ASZ patient harboring AKAP4 p.S152P mutation. Further in vitro cellular assays showed that reactive oxygen species (ROS), malondialdehyde (MDA), myeloperoxidase (MPO) levels, and apoptotic cells were increased in GC2-spd cells by AKAP4 p.S152P mutant protein, whereas superoxide dismutase (SOD) level was decreased. AKAP4 p.H391H and p.R669R mutant proteins were coimmunoprecipitated with ribonuclease T2 (RNASET2) protein in GC2-spd cells, whereas no interaction between the AKAP4 p.S152P mutant protein and RNASET2 protein was observed. In addition, AKAP4 p.S152P mutant protein could decrease the activity of PKA/PI3K signaling. Overall, our study identifies a novel AKAP4 p.S152P mutation is associated with ASZ probably through affecting oxidative stress and cell apoptosis by regulating the interaction with RNASET2 and the activity of the PKA/PI3K signaling pathway.

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出版当年[2020]版:
大类 | 3 区 生物
小类 | 3 区 发育生物学 3 区 生殖生物学 4 区 生化与分子生物学 4 区 细胞生物学
最新[2025]版:
大类 | 3 区 生物学
小类 | 3 区 生化与分子生物学 3 区 发育生物学 4 区 细胞生物学 4 区 生殖生物学
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出版当年[2019]版:
Q2 DEVELOPMENTAL BIOLOGY Q3 REPRODUCTIVE BIOLOGY Q3 CELL BIOLOGY Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
最新[2023]版:
Q2 DEVELOPMENTAL BIOLOGY Q2 REPRODUCTIVE BIOLOGY Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Q3 CELL BIOLOGY

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第一作者单位: [1]Huazhong Univ Sci & Technol,Tongji Hosp,Tongji Med Coll,Dept Urol,Wuhan,Hubei,Peoples R China
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