Fig. 1: Identification of a homozygous frameshift mutation in C12orf40 from two NOA-affected men born to consanguineous parents.
From: A novel recombination protein C12ORF40/REDIC1 is required for meiotic crossover formation
a Pedigrees of two Chinese families with a C12orf40 mutation. The double horizontal lines indicate the consanguineous marriage. Squares and circles denote male and female members, respectively. Solid symbols indicate the members with nonobstructive azoospermia. Members indicated by arrows were selected for WES. Sanger sequencing chromatograms of C12orf40 are shown at the bottom. The 2-bp insertion in C12orf40 is marked in red. b Histological analysis of human testicular sections by hematoxylin and eosin staining. A man who was diagnosed with obstructive azoospermia served as the control. Spg, spermatogonium; Spc, spermatocyte; Spt, spermatid; Ser, Sertoli cell. Scale bars: 50 μm. c Location and conservation of the C12ORF40 mutation. The gene composition is based on the Ensembl database (GRCh38, transcript ID: ENST00000324616.9; NCBI RefSeq ID: NM_001031748.4). The blue solid squares represent exons. The domains were predicted by the SMART web server. The conservation of the mutated amino acid is evaluated by the sequence alignment of orthologs from the indicated species. The red arrow shows the identified mutation. The results of the full-length protein multiple sequence alignment are shown in Supplementary Fig. S2.
