MacDonald G, Chu M L, Cox D R
Department of Pediatrics, University of California, San Francisco 94143.
Genomics. 1991 Oct;11(2):317-23. doi: 10.1016/0888-7543(91)90138-5.
Comparative mapping of human and mouse DNA for regions of genetic homology between human Chromosome 21 and the mouse genome is of interest because of the possibility of developing mouse models of human trisomy 21 (Down syndrome), understanding chromosome evolution, and isolating novel sequences conserved between the two species. At least two mouse chromosomes are known to carry sequences homologous to those on human Chromosome 21: mouse Chromosome 16 (D21S16h, D21S13h, D21S52h, App, Sod-1, Mx-1, Ets-2, Prgs,Ifnar) and mouse Chromosome 17 (D21S56h, Crya-1, and Cbs). Recently, five additional genes have been mapped within region 21q22 of human Chromosome 21:PFKL, CD18, COL6A1, COL6A2, and S100B. To assign these sequences to specific mouse chromosomes, we used human cDNA probes for COL6A1, COL6A2, CD18, and PFKL and a rat brain cDNA probe for S100B in conjunction with a panel of seven Chinese hamster-mouse somatic cell hybrids segregating mouse chromosomes. The specific chromosome complements of the hybrid cell lines and the presence or absence of hybridizing mouse sequences in their DNAs allow us to assign all five sequences to mouse Chromosome 10, with the assignment of Pfkl reported here for the first time. Analysis of genomic mouse DNA fragments produced by digestion with rare-cutting restriction enzymes and separated using pulsed-field gel electrophoresis allows us to construct a fine-structure physical map of two segments of the region of Chromosome 10 containing these five markers. The five loci span at least 1900 kb of mouse DNA and are consistent with the human order: Pfkl-Cd-18-Col6a-1-Col6a-2-S100b.(ABSTRACT TRUNCATED AT 250 WORDS)
由于有可能开发出人类21三体综合征(唐氏综合征)的小鼠模型、理解染色体进化以及分离出这两个物种之间保守的新序列,因此对人类21号染色体与小鼠基因组之间的遗传同源区域进行人类和小鼠DNA的比较图谱绘制很有意义。已知至少有两条小鼠染色体携带与人类21号染色体上序列同源的序列:小鼠16号染色体(D21S16h、D21S13h、D21S52h、App、Sod-1、Mx-1、Ets-2、Prgs、Ifnar)和小鼠17号染色体(D21S56h、Crya-1和Cbs)。最近,又有五个基因被定位在人类21号染色体的21q22区域内:PFKL、CD18、COL6A1、COL6A2和S100B。为了将这些序列定位到特定的小鼠染色体上,我们使用了针对COL6A1、COL6A2、CD18和PFKL的人类cDNA探针以及针对S100B的大鼠脑cDNA探针,并结合一组七个分离小鼠染色体的中国仓鼠-小鼠体细胞杂种。杂种细胞系的特定染色体组成以及它们DNA中杂交小鼠序列的有无,使我们能够将所有五个序列定位到小鼠10号染色体上,其中Pfkl的定位在此首次报道。对用稀有切割限制酶消化并通过脉冲场凝胶电泳分离产生的基因组小鼠DNA片段进行分析,使我们能够构建包含这五个标记的10号染色体区域两个片段的精细结构物理图谱。这五个基因座跨越至少1900 kb的小鼠DNA,并且与人类顺序一致:Pfkl-Cd-18-Col6a-1-Col6a-2-S100b。(摘要截短于250字)