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Meiotic transverse filament proteins encoded by the SYCP1 (synaptonemal complex protein 1) gene are one of the main components of the synaptonemal complex and play an important role in correct synapsis and recombination. Family-based whole-exome sequencing revealed a rare homozygous SYCP1 frameshift mutation (c.2892delA: p.K967Nfs*1) in two men with severe oligozoospermia, followed by validation and segregation through Sanger sequencing. This single nucleotide deletion not only changes lysine 967 (K) into asparagine (N) but also causes a premature stop codon, which leads to deletion of 968\u2013976 residues from the end of the C-tail region of the SYCP1 protein. Although, sycp1 knockout male mice are reported to be sterile with a complete lack of spermatids and spermatozoa, to date no SYCP1 variant has been associated with human oligozoospermia. HADDOCK analysis indicated that this mutation decreases the ability of the truncated SYCP1 protein to bind DNA. Immunodetection of \u03d2H2AX signals in SYCP1 mutant semen cells, and a 40% DNA fragmentation index might indicate that a small number of DNA double-strand breaks, which require SYCP1 and\/or synapsis to be repaired, are not efficiently repaired, resulting in defects in differentiation of germline cells and appearance of the oligozoospermia phenotype. To our knowledge, this is the first report of a homozygous SYCP1 mutation that decreases sperm count. Further studies are required to determine the function of the SYCP1 mutation, which is potentially associated with human oligozoospermia.<\/jats:p>","DOI":"10.1093\/molehr\/gaac009","type":"journal-article","created":{"date-parts":[[2022,4,4]],"date-time":"2022-04-04T13:22:08Z","timestamp":1649078528000},"source":"Crossref","is-referenced-by-count":25,"title":["A rare frameshift mutation in<i>SYCP1<\/i>is associated with human male infertility"],"prefix":"10.1093","volume":"28","author":[{"given":"Soheila","family":"Nabi","sequence":"first","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masomeh","family":"Askari","sequence":"additional","affiliation":[{"name":"Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran"},{"name":"Basic and 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