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Paper   IPM / Biological Sciences / 17051
School of Biological Sciences
  Title:   A rare frameshift mutation in SYCP1 is associated with human male infertility
  Author(s): 
1.  Soheila Nabi
2.  Masomeh Askari
3.  Maryam Rezaei-Gazik
4.  Najmeh Salehi
5.  Navid Almadani
6.  Yaser Tahamtani
7.  Mehdi Totonchi
  Status:   Published
  Journal: Molecular Human Reproduction
  Year:  2022
  Supported by:  IPM
  Abstract:
Proper assembly of the synaptonemal complex is essential for successful meiosis, and impairments in the process lead to infertility. 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 968–976 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 ϒH2AX signals in SYCP1 mutant semen cells, and a 40


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