WILMS-TUMOR LOCUS ON 11P13 DEFINED BY MULTIPLE CPG ISLAND-ASSOCIATED TRANSCRIPTS

WILMS-TUMOR LOCUS ON 11P13 DEFINED BY MULTIPLE CPG ISLAND-ASSOCIATED TRANSCRIPTS
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DOI:
10.1126/science.2173146
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发表时间:
1990-11-16
期刊:
影响因子:
56.9
通讯作者:
FEINBERG, AP
FEINBERG, AP
中科院分区:
综合性期刊1区
文献类型:
--
作者:
BONETTA, L;KUEHN, SE;FEINBERG, AP

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肾母细胞瘤是一种涉及复杂病理和遗传学的胚胎性肾肿瘤。染色体11p13上的Wilms肿瘤位点是由体质缺失和肿瘤相关缺失重叠区域定义的。采用染色体行走法和酵母人工染色体(YAC)克隆技术克隆和定位了850千碱基的DNA。确定了9个CpG岛屿,构成了一个“CpG岛屿群岛”,其中包括三个通过常规脉冲场测绘不明显的岛屿,因此至少部分甲基化。在Wilms肿瘤的纯合DNA缺失边界内,发现了三个不同的转录单位与CpG岛密切相关。
Wilms tumor is an embryonal kidney tumor involving complex pathology and genetics. The Wilms tumor locus on chromosome 11p13 is defined by the region of overlap of constitutional and tumor-associated deletions. Chromosome walking and yeast artifical chromosome (YAC) cloning were used to clone and map 850 kilobases of DNA. Nine CpG islands, constituting a "CpG island archipelago," were identified, including three islands that were not apparent by conventional pulsed-field mapping, and thus were at least partially methylated. Three distinct transcriptional units were found closely associated with a CpG island within the boundaries of a homozygous DNA deletion in a Wilms tumor.