{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T17:26:35Z","timestamp":1786728395837,"version":"build-2736575974"},"reference-count":75,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T00:00:00Z","timestamp":1734393600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Male infertility can result from impaired sperm motility caused by multiple morphological abnormalities of the flagella (MMAF). Distinct projections encircling the central microtubules of the spermatozoal axoneme play pivotal roles in flagellar bending and spermatozoal movement. Mammalian sperm-associated antigen 17 (\n                    <jats:italic toggle=\"yes\">SPAG17<\/jats:italic>\n                    ) encodes a conserved axonemal protein of cilia and flagella, forming part of the C1a projection of the central apparatus, with functions related to ciliary\/flagellar motility, skeletal growth, and male fertility. This study investigated two novel homozygous\n                    <jats:italic toggle=\"yes\">SPAG17<\/jats:italic>\n                    mutations (M1: NM_206996.2, c.829+1G&gt;T, p.Asp212_Glu276del; and M2: c.2120del, p.Leu707*) identified in four infertile patients from two consanguineous Pakistani families. These patients displayed the MMAF phenotype confirmed by Papanicolaou staining and scanning electron microscopy assays of spermatozoa. Quantitative real-time polymerase chain reaction (PCR) of patients\u2019 spermatozoa also revealed a significant decrease in\n                    <jats:italic toggle=\"yes\">SPAG17<\/jats:italic>\n                    mRNA expression, and immunofluorescence staining showed the absence of SPAG17 protein signals along the flagella. However, no apparent ciliary-related symptoms or skeletal malformations were observed in the chest X-rays of any of the patients. Transmission electron microscopy of axoneme cross-sections from the patients showed incomplete C1a projection and a higher frequency of missing microtubule doublets 1 and 9 compared with those from fertile controls. Immunofluorescence staining and Western blot analyses of spermatogenesis-associated protein 17 (SPATA17), a component of the C1a projection, and sperm-associated antigen 6 (SPAG6), a marker of the spring layer, revealed disrupted expression of both proteins in the patients\u2019 spermatozoa. Altogether, these findings demonstrated that SPAG17 maintains the integrity of spermatozoal flagellar axoneme, expanding the phenotypic spectrum of\n                    <jats:italic toggle=\"yes\">SPAG17<\/jats:italic>\n                    mutations in humans.\n                  <\/jats:p>","DOI":"10.4103\/aja202496","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T04:00:24Z","timestamp":1734408024000},"page":"245-253","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":8,"title":["Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets"],"prefix":"10.4103","volume":"27","author":[{"given":"Tao","family":"Liu","sequence":"first","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fazal","family":"Rahim","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng-Lei","family":"Yang","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meftah","family":"Uddin","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing-Wei","family":"Ye","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imtiaz","family":"Ali","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yousaf","family":"Raza","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abu","family":"Mansoor","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basit","family":"Shah","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, University of Science and Technology of China, Hefei 230027, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asad","family":"Khan","sequence":"additional","affiliation":[{"name":"Institute of Health and Medicine, Hefei Comprehensive National Science Center, Center for Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical 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