Costantini Maria, Clay Oliver, Federico Concetta, Saccone Salvatore, Auletta Fabio, Bernardi Giorgio
Laboratory of Molecular Evolution, Stazione Zoologica Anton Dohrn, Naples, Italy.
Chromosoma. 2007 Feb;116(1):29-40. doi: 10.1007/s00412-006-0078-0. Epub 2006 Oct 28.
In this paper, we report investigations on the nested structure, the high-definition mapping, and the molecular basis of the classical Giemsa and Reverse bands in human chromosomes. We found the rules according to which the approximately 3,200 isochores of the human genome are assembled in high (850-band) resolution bands, and the latter in low (400-band) resolution bands, so forming the nested mosaic structure of chromosomes. Moreover, we identified the borders of both sets of chromosomal bands at the DNA sequence level on the basis of our recent map of isochores, which represent the highest-resolution, ultimate bands. Indeed, beyond the 100-kb resolution of the isochore map, the guanine and cytosine (GC) profile of DNA becomes turbulent owing to the contribution of specific sequences such as exons, introns, interspersed repeats, CpG islands, etc. The isochore-based level of definition (100 kb) of chromosomal bands is much higher than the cytogenetic definition level (2-3 Mb). The major conclusions of this work concern the high degree of order found in the structure of chromosomal bands, their mapping at a high definition, and the solution of the long-standing problem of the molecular basis of chromosomal bands, as these could be defined on the basis of compositional DNA properties alone.
在本文中,我们报告了对人类染色体中经典吉姆萨带和反带的嵌套结构、高清图谱以及分子基础的研究。我们发现了人类基因组中约3200个等密度区带组装成高分辨率(850条带)带,以及后者组装成低分辨率(400条带)带的规则,从而形成染色体的嵌套镶嵌结构。此外,基于我们最近的等密度区带图谱(代表最高分辨率的最终带),我们在DNA序列水平上确定了这两组染色体带的边界。事实上,在等密度区带图谱100 kb的分辨率之上,由于外显子、内含子、散布重复序列、CpG岛等特定序列的影响,DNA的鸟嘌呤和胞嘧啶(GC)分布变得紊乱。基于等密度区带的染色体带定义水平(100 kb)远高于细胞遗传学定义水平(2 - 3 Mb)。这项工作的主要结论涉及染色体带结构中发现的高度有序性、它们的高清图谱绘制,以及长期存在的染色体带分子基础问题的解决,因为这些问题仅基于DNA组成特性就可以得到定义。