The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome
The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome
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剪接位点突变对痣样基底细胞癌综合征患者的影响
DOI：
10.1007/s004390050747
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发表时间：
1998
期刊：
影响因子：
5.3
通讯作者：
G. Chenevix
中科院分区：
文献类型：
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作者：
I. Smyth;C. Wicking;Brandon J. Wainwright;G. Chenevix
我们以前已经确定了果蝇patched基因的人类同源物，并描述了在这个基因中，突变引起痣样基底细胞癌综合征（NBCCS）。在这里，我们分析了三个剪接位点突变的影响，在人类PATCHED（PTCH）的逆转录/聚合酶链反应方法在培养的患者淋巴细胞系。两个改变，内含子7中的点突变和内含子10中的插入，导致PATCHED蛋白的过早截短。内含子17中的另一个点突变导致外显子18的跳跃和随后的46个氨基酸的框内缺失。此外，在检查的所有淋巴细胞和角质形成细胞系中，PTCH的外显子10被选择性剪接，导致52个氨基酸的框内缺失。
We have previously identified the human homologue of the Drosophila patched gene and have described, in this gene, mutations that give rise to naevoid basal cell carcinoma syndrome (NBCCS). Here, we have analysed the effects of three splice site mutations within human PATCHED (PTCH) by the reverse transcription/polymerase chain reaction method in cultured patient lymphocyte cell lines. Two alterations, a point mutation in intron 7 and an insertion in intron 10, lead to premature truncation of the PATCHED protein. Another point mutation in intron 17 results in the skipping of exon 18 and the subsequent in-frame deletion of 46 amino acids. Additionally, in all lymphocyte and keratinocyte cell lines examined, exon 10 of PTCH is alternatively spliced leading to an in-frame deletion of 52 amino acids.
DOI：
10.1073/pnas.81.23.7417
发表时间：
1984-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
KELLER, EB;NOON, WA
通讯作者：
NOON, WA