Fig. 2: Functional analysis of the MCM9c.1151-1G>A mutation to assess its impact on pre-mRNA splicing. | Cell Death Discovery

Fig. 2: Functional analysis of the MCM9c.1151-1G>A mutation to assess its impact on pre-mRNA splicing.

From: MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans

Fig. 2

A–C PCR amplification and cDNA sequence of the MCM9 cDNA spanning exon 5 to 8 using testicular samples from the two probands and a control male. D–G Minigene assays showing abnormal pre-mRNA splicing of MCM9 induced by the c.1151-1 G > A mutation in vitro. NC, normal control; Mut, mutant; WT, wild type.

Back to article page