Warburton P E, Haaf T, Gosden J, Lawson D, Willard H F
MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom.
Genomics. 1996 Apr 15;33(2):220-8. doi: 10.1006/geno.1996.0187.
Alpha satellite DNA is a tandemly repeated DNA family found at the centromeres of all primate chromosomes examined. The fundamental repeat units of alpha satellite DNA are diverged 169- and 172-bp monomers, often found to be organized in chromosome-specific higher-order repeat units. The chromosomes of human (Homo sapiens (HSA)), chimpanzee (Pan troglodytes (PTR) and Pan paniscus), and gorilla (Gorilla gorilla) share a remarkable similarity and synteny. It is of interest to ask if alpha satellite arrays at centromeres of homologous chromosomes between these species are closely related (evolving in an orthologous manner) or if the evolutionary processes that homogenize and spread these arrays within and between chromosomes result in nonorthologous evolution of arrays. By using PCR primers specific for human chromosome 17-specific alpha satellite DNA, we have amplified, cloned, and characterized a chromosome-specific subset from the PTR chimpanzee genome. Hybridization both on Southern blots and in situ as well as sequence analysis show that this subset is most closely related, as expected, to sequences on HSA 17. However, in situ hybridization reveals that this subset is not found on the homologous chromosome in chimpanzee (PTR 19), but instead on PTR 12, which is homologous to HSA 2p.
α卫星DNA是在所有已检测的灵长类染色体着丝粒处发现的串联重复DNA家族。α卫星DNA的基本重复单元是169和172碱基对的分化单体,通常发现它们以染色体特异性的高阶重复单元形式组织。人类(智人(HSA))、黑猩猩(黑猩猩(PTR)和倭黑猩猩)以及大猩猩(大猩猩)的染色体具有显著的相似性和同线性。有趣的是,要问这些物种同源染色体着丝粒处的α卫星阵列是否密切相关(以直系同源的方式进化),或者在染色体内部和之间使这些阵列同质化和传播的进化过程是否导致阵列的非直系同源进化。通过使用针对人类17号染色体特异性α卫星DNA的PCR引物,我们从PTR黑猩猩基因组中扩增、克隆并鉴定了一个染色体特异性子集。Southern杂交、原位杂交以及序列分析均表明,如预期的那样,该子集与HSA 17上的序列关系最为密切。然而,原位杂交显示该子集在黑猩猩的同源染色体(PTR 19)上未发现,而是在与HSA 2p同源的PTR 12上。