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. 2020 Jan 27;35(1):240–252. doi: 10.1093/humrep/dez246

Figure 1.

Figure 1

Mutations in zona pellucida binding protein (ZPBP) and in coiled-coil domain containing 62 (CCDC62). A Homozygous nonsense mutation in ZPBP observed in the exome data of patient GL-11. The nonsense mutation likely leads to a truncated protein and disrupts the conserved Sp38 domain. B Segregation analysis in the family of GL-11. Sanger sequencing was performed on all available DNA samples. C Immunocytochemistry of ZPBP (green) in healthy human testis material. ZPBP localises to the acrosome of spermatids (arrow). D STRING Network analysis of known and candidate genes for globozoospermia (STRING version 10.5). E Homozygous nonsense mutation (c.442C > T; p.Gln148*) and missense mutation (c.847C > T; p.His283Tyr) in CCDC62 observed in the exome data of patient GL-13. Protein domains were predicted by SMART (http://smart.embl-heidelberg.de/). SP38 = zona-pellucida-binding protein (InterPro: IPR010857). The ortholog alignment was made by Alamut Visual version 2.10 (http://www.interactive-biosoftware.com).