Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8.
Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptomatic carriers are protected from the disease by a higher than average expression of the PRPF31 allele that is not mutated, mainly through the action of an unknown modifier gene mapping to chromosome 19q13.4. We investigated a large family with adRP segregating an 11-bp deletion in PRPF31. The analysis of cell lines derived from asymptomatic and affected individuals revealed that the expression of only one gene among a number of candidates within the 19q13.4 interval significantly correlated with that of PRPF31, both at the mRNA and protein levels, and according to an inverse relationship. This gene was CNOT3, encoding a subunit of the Ccr4-not transcription complex. In cultured cells, siRNA-mediated silencing of CNOT3 provoked an increase in PRPF31 expression, confirming a repressive nature of CNOT3 on PRPF31. Furthermore, chromatin immunoprecipitation revealed that CNOT3 directly binds to a specific PRPF31 promoter sequence, while next-generation sequencing of the CNOT3 genomic region indicated that its variable expression is associated with a common intronic SNP. In conclusion, we identify CNOT3 as the main modifier gene determining penetrance of PRPF31 mutations, via a mechanism of transcriptional repression. In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration.
PRPF31 基因的杂合突变导致常染色体显性视网膜色素变性(adRP),这是一种遗传性疾病,导致进行性失明。在某些情况下,这种突变显示不完全外显率,这意味着某些携带者会发生视网膜变性,而另一些携带者则根本没有症状。无症状携带者受到保护,不会患上这种疾病,因为未突变的 PRPF31 等位基因的表达高于平均水平,主要是通过一种未知的修饰基因作用于 19q13.4 染色体。我们研究了一个带有 adRP 的大家庭,该家庭在 PRPF31 中存在 11 个碱基对缺失。对来自无症状和受影响个体的细胞系的分析表明,在 19q13.4 间隔内的许多候选基因中,只有一个基因的表达与 PRPF31 的表达显著相关,无论是在 mRNA 还是蛋白质水平上,而且是一种相反的关系。这个基因是 CNOT3,编码 Ccr4-not 转录复合物的一个亚基。在培养的细胞中,siRNA 介导的 CNOT3 沉默会引起 PRPF31 表达增加,证实了 CNOT3 对 PRPF31 的抑制作用。此外,染色质免疫沉淀显示 CNOT3 直接结合到特定的 PRPF31 启动子序列,而 CNOT3 基因组区域的下一代测序表明其可变表达与一个常见的内含子 SNP 相关。总之,我们确定 CNOT3 是决定 PRPF31 突变外显率的主要修饰基因,其机制是转录抑制。在无症状携带者中,CNOT3 的表达水平较低,允许产生更多的野生型 PRPF31 转录本,并防止视网膜变性的表现。
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