Bonetta L, Kuehn S E, Huang A, Law D J, Kalikin L M, Koi M, Reeve A E, Brownstein B H, Yeger H, Williams B R
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Science. 1990 Nov 16;250(4983):994-7. doi: 10.1126/science.2173146.
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 artificial 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.
肾母细胞瘤是一种涉及复杂病理学和遗传学的胚胎性肾肿瘤。11号染色体p13上的肾母细胞瘤基因座由遗传性和肿瘤相关性缺失的重叠区域所界定。采用染色体步移和酵母人工染色体（YAC）克隆技术对850千碱基的DNA进行克隆和定位。鉴定出9个构成“CpG岛群岛”的CpG岛，其中3个岛通过传统脉冲场图谱不明显，因此至少部分发生了甲基化。在一个肾母细胞瘤的纯合DNA缺失边界内，发现3个不同的转录单位与一个CpG岛紧密相关。
