Structural analysis of M1AP variants associated with severely impaired spermatogenesis causing male infertility


Gerlevik U., Ergoren M. C. , SEZERMAN O. U. , TEMEL Ş. G.

PEERJ, vol.10, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10
  • Publication Date: 2022
  • Doi Number: 10.7717/peerj.12947
  • Journal Name: PEERJ
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, Veterinary Science Database, Directory of Open Access Journals
  • Keywords: Molecular modelling, Molecular dynamics simulations, Male infertility, Meisos 1-associated protein (M1AP), Non-obstructive azoospermia (NOA), Cryptozoospermia, Variant effect on protein structure, PROTEIN-STRUCTURE PREDICTION, EVOLUTIONARY CONSERVATION, MOLECULAR-DYNAMICS, MEIOTIC ARREST, MUTATIONS, CRYPTOZOOSPERMIA, AZOOSPERMIA, ERRORS
  • Bursa Uludag University Affiliated: Yes

Abstract

Background: Impaired meiosis can result in absence of sperm in the seminal fluid. This condition, namely non-obstructive azoospermia (NOA), is one of the reasons of male infertility. Despite the low number of studies on meiosis 1-associated protein (M1AP) in the literature, MIAP is known to be crucial for spermatogenesis. Recently, seven variants (five missense, one frameshift, one splice-site) have been reported in the MIAP gene as associated with NOA, cryptozoospermia and oligozoospermia in two separate studies. However, all missense variants were evaluated as variant of uncertain significance by these studies. Therefore, we aimed to analyze their structural impacts on the M1AP protein that could lead to NOA.