Choo K H, Earle E, McQuillan C
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Victoria, Australia.
Nucleic Acids Res. 1990 Oct 11;18(19):5641-8. doi: 10.1093/nar/18.19.5641.
We describe a new subfamily of human satellite III DNA that is represented on two different acrocentric chromosomes. This DNA is composed of a tandemly repeated array of diverged 5-base-pair monomer units of the sequence GGAAT or GGAGT. These monomers are organised into a 1.37-kilobase higher-order structure that is itself tandemly reiterated. Using a panel of somatic cell hybrids containing specific human chromosomes, this higher-order structure is demonstrated on chromosomes 14 and 22, but not on the remaining acrocentric chromosomes. In situ hybridisation studies have localised the sequence to the proximal p-arm region of these chromosomes. Analysis by pulsed-field gel electrophoresis (PFGE) reveals that 70-110 copies of the higher-order structure are tandemly organised on a chromosome into a major domain which appears to be flanked on both sides by non-tandemly repeated genomic DNA. In addition, some of the satellite III sequences are interspersed over a number of other PFGE fragments. This study provides fundamental knowledge on the structure and evolution of the acrocentric chromosomes, and should extend our understanding of the complex process of interchromosomal interaction which may be responsible for Robertsonian translocation and meiotic nondisjunction involving these chromosomes.
我们描述了人类卫星III DNA的一个新亚家族,它存在于两条不同的近端着丝粒染色体上。这种DNA由序列为GGAAT或GGAGT的5个碱基对的发散性单体单元串联重复排列组成。这些单体被组织成一个1.37千碱基的高阶结构,该结构本身也串联重复。利用一组含有特定人类染色体的体细胞杂种,在14号和22号染色体上证实了这种高阶结构,但在其余近端着丝粒染色体上未发现。原位杂交研究已将该序列定位到这些染色体的近端p臂区域。脉冲场凝胶电泳(PFGE)分析表明,70 - 110个高阶结构拷贝在一条染色体上串联排列成一个主要结构域,其两侧似乎是不串联重复的基因组DNA。此外,一些卫星III序列散布在许多其他PFGE片段上。这项研究提供了关于近端着丝粒染色体结构和进化的基础知识,并应扩展我们对可能导致涉及这些染色体的罗伯逊易位和减数分裂不分离的复杂染色体间相互作用过程的理解。