Fig. 1: Identification of unique and deleterious CCER1 mutations in patients with NOA.
From: Phase-separated CCER1 coordinates the histone-to-protamine transition and male fertility
a Association of CCER1 LOF mutations with the risk of NOA based on 620 patients and 10,847 controls in the gnomAD database. P value significance was analyzed by Fisher’s exact test (PCombined = 4.551 × 10−7). b Diagrammatic representation of the CCER1 protein with known protein domains indicated. The orange mutations represent stop gain mutations, and the red mutations represent frameshift deletions. c Chromatogram of the sequences of the CCER1 coding region for the three abovementioned LOF mutations in patients with NOA. d Western blot to investigate the effects of human mutations on the CCER1 protein levels. Red arrows indicate the predicted bands. From left to right: protein marker (lane 1 & 8), HEK293T cell lysis control (lane 2), HEK293T cells transfected with the mCherry plasmid (lane 3, 35 KD), mCherry-hCCER1-WT (lane 4, approximately 100–110 KD), mCherry-hCCER1-c.157 C > T (lane 5, 35–40 KD truncated protein), mCherry-hCCER1-c.358_388del (lane 6, no truncated protein) and mCherry-hCCER1-c.534 G > A plasmids (lane 7, 40–55 KD), respectively. The samples derive from the same experiment and that blots were processed in parallel.
