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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >MULTIPLE GENETIC LOCI WITHIN 11P15 DEFINED BY BECKWITH-WIEDEMANN SYNDROME REARRANGEMENT BREAKPOINTS AND SUBCHROMOSOMAL TRANSFERABLE FRAGMENTS
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MULTIPLE GENETIC LOCI WITHIN 11P15 DEFINED BY BECKWITH-WIEDEMANN SYNDROME REARRANGEMENT BREAKPOINTS AND SUBCHROMOSOMAL TRANSFERABLE FRAGMENTS

机译：由BECKWITH-WIEDEMANN综合征重排突变点和亚染色体可转移片段定义的11P15内的多基因位点

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摘要

Beckwith-Wiedemann syndrome (BWS) involves fetal overgrowth and predisposition to a wide variety of embryonal tumors of childhood. We have previously found that BWS is genetically linked to 11p15 and that this same band shows loss of heterozygosity in the types of tumors to which children with BWS are susceptible, However, 11p15 contains >20 megabases, and therefore, the BWS and tumor suppressor genes could be distinct, To determine the precise physical relationship between these loci, we isolated yeast artificial chromosomes, and cosmid libraries from them, within the region of loss of heterozygosity in embryonal tumors. Five germ-fine balanced chromosomal rearrangement breakpoint sites from BWS patients, as well as a balanced chromosomal translocation breakpoint from a rhabdoid tumor, were isolated within a 295- to 320-kb cluster defined by a complete cosmid contig crossing these breakpoints. This breakpoint cluster terminated approximately 100 kb centromeric to the imprinted gene IGF2 and 100 kb telomeric to p57(KIP2), an inhibitor of cyclin-dependent kinases, and was located within subchromosomal transferable fragments that suppressed the growth of embryonal tumor cells in genetic complementation experiments. We have identified 11 transcribed sequences in this BWS/tumor suppressor coincident region, one of which corresponded to p57(KIP2). However, three additional BWS breakpoints were >4 megabases centromeric to the other five breakpoints and were excluded from the tumor suppressor region defined by subchromosomal transferable fragments, Thus, multiple genetic loci define BWS and tumor suppression on 11p15.
机译：Beckwith-Wiedemann综合征（BWS）涉及胎儿过度生长和易患儿童期多种胚胎肿瘤。我们以前已经发现BWS与11p15遗传相关，并且同一条带显示BWS儿童易感的肿瘤类型的杂合性丧失，但是11p15包含> 20兆碱基，因此BWS和抑癌基因为了确定这些基因座之间的精确物理关系，我们在酵母肿瘤的杂合性丧失区域内分离了酵母人工染色体和粘粒文库。在一个295至320 kb的簇中分离了五个来自BWS患者的细菌-细微平衡染色体重排断裂点，以及一个来自横纹肌瘤的平衡染色体易位断裂点，该簇由一个完整的粘粒重叠群跨越这些断裂点定义。该断点簇终止于印迹基因IGF2的着丝粒约100 kb，终止于细胞周期蛋白依赖性激酶的抑制剂p57（KIP2）的端粒100 kb，位于染色体下的可转移片段内，在遗传互补实验中可抑制胚胎肿瘤细胞的生长。 。我们已经在该BWS /肿瘤抑制器重合区域中鉴定了11个转录序列，其中之一对应于p57（KIP2）。但是，另外三个BWS断裂点是相对于其他五个断裂点而言> 4 megabases着丝粒，并被排除在亚染色体可转移片段定义的抑癌区域之外。因此，多个遗传位点定义了BWS和11p15的肿瘤抑制作用。

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