van Asseldonk M, Schepens M, de Bruijn D, Janssen B, Merkx G, Geurts van Kessel A
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Genomics. 2000 May 15;66(1):35-42. doi: 10.1006/geno.2000.6194.
Previously, we located three novel human tumor-associated translocation breakpoints in the chromosome 11q13 region between the markers D11S4933 and D11S546. To facilitate the molecular analysis of these breakpoints, we have constructed a continuous sequence-ready cosmid and PAC contig of approximately 350 kb, including the markers D11S4933 and D11S546. In addition, a detailed transcript map was generated. This resulted in the precise positioning of 11 genes and ESTs within the contig, including 4 genes already known to map in the 11q13 region. Three other genes that we positioned within the contig showed homologies to unmapped genes from human and/or other species. Three ESTs were novel. Partial cosmid sequencing resulted in the establishment of the direction of transcription of several of the reported genes. This contig will be instrumental for the detailed characterization of the tumor-associated chromosomal breakpoints and the identification of other 11q13-associated disease genes.
此前,我们在标记D11S4933和D11S546之间的11号染色体q13区域定位到三个新的人类肿瘤相关易位断点。为便于对这些断点进行分子分析,我们构建了一个约350 kb的连续的可用于测序的黏粒和P1人工染色体重叠群,包括标记D11S4933和D11S546。此外,还生成了详细的转录图谱。这使得11个基因和EST在重叠群中得以精确定位,其中包括4个已知定位于11q13区域的基因。我们在重叠群中定位的另外三个基因与来自人类和/或其他物种的未定位基因具有同源性。三个EST是新发现的。对黏粒进行部分测序确定了几个已报道基因的转录方向。这个重叠群将有助于详细表征肿瘤相关的染色体断点,并鉴定其他与11q13相关的疾病基因。