Identification and functional characterization of a novel splicing mutation in RP gene PRPF31
Identification and functional characterization of a novel splicing mutation in RP gene PRPF31
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RP 基因 PRPF31 中新型剪接突变的鉴定和功能表征。
DOI：
10.1016/j.bbrc.2007.12.156
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发表时间：
2008-03-07
影响因子：
3.1
通讯作者：
Wang, Qing K.
中科院分区：
文献类型：
--
作者：
Liu, Jing Yu;Dai, Xiaohua;Wang, Qing K.
对一个常染色体显性遗传性视网膜色素变性(ADRP)家系进行了鉴定和鉴定。全基因组连锁分析将该家系与位于染色体19q13.33-13.43(RP11)上的标记D19S601~D19S605连锁(LOD=5.03)。直接DNA序列分析在患病家庭成员和携带者中发现了一种新的剪接突变(IVS1+IG>；T)，但在未患病家庭成员和200名正常对照中未发现。剪接突变发生在内含子1的剪接供体处。实时定量聚合酶链式反应显示，与正常家庭成员相比，剪接突变使有症状的患者和临床无症状携带者的PRPF31mRNA表达水平分别降低了57%和28%。我们的研究发现了一种与ADRP相关的新的PRPF31剪接突变，并提示RP11突变的外显性可能与PRPF31 mRNA的表达水平有关。(C)2007 Elsevier Inc.保留所有权利。
A six-generation Chinese family with autosomal dominant retinitis pigmentosa (adRP) was identified and characterized. Genomewide linkage analysis linked the family to markers D19S601 to D19S605, which span the PRPF31 gene on chromosome 19q13.33 - 13.43 (RP11) (LOD=5.03). Direct DNA sequence analysis identified a novel splicing mutation (IVS1+IG > T) in affected family members and carriers, but not in unaffected family members and 200 normal controls. The splicing mutation occurs at the splicing donor of intron 1. Real time PCR with lymphoblastoid RNA samples from family members showed that in comparison to normal family members, the splicing mutation reduced the expression level of the PRPF31 mRNA by 57% in symptomatic patients and by 28% in clinically asymptomatic carriers. Our studies identify a novel splicing mutation in PRPF31 associated with adRP and suggest that the penetrance of RP11 mutations may be correlated with the expression level of the PRPF31 mRNA. (c) 2007 Elsevier Inc. All rights reserved.