Korenberg J R, Rykowski M C
Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, California.
Cell. 1988 May 6;53(3):391-400. doi: 10.1016/0092-8674(88)90159-6.
Combining high resolution in situ hybridization with quantitative solid state imaging, we show that human metaphase chromosome Giemsa/Quinacrine and Reverse bands are each characterized by distinct families of interspersed repeated sequences: the SINES, Alu family dominates in Reverse bands, and the LINES, L1 family dominates in Giemsa/Quinacrine positive bands. Alu is 56% guanine plus cytosine, and L1 is 58% adenine plus thymine, and each may comprise 13%-18% of the total DNA in a chromosome band. Therefore, the distribution of these sequences alone may account for a large part of human chromosome banding seen with fluorescent dyes. With the exception of some telomeric regions, and the chromosomal regions of simple sequence DNA, Alu and L1 are precisely inversely distributed, suggesting an inverse functional relationship. This finding links genome organization with chromosome structure and function.
通过将高分辨率原位杂交与定量固态成像相结合，我们发现人类中期染色体吉姆萨/喹吖因带和反向带分别具有不同的散布重复序列家族特征：短散在核元件（SINES）中，Alu家族在反向带中占主导，而长散在核元件（LINES）中，L1家族在吉姆萨/喹吖因阳性带中占主导。Alu的鸟嘌呤加胞嘧啶含量为56%，L1的腺嘌呤加胸腺嘧啶含量为58%，并且它们各自可能占染色体带中总DNA的13% - 18%。因此，仅这些序列的分布就可能是荧光染料所观察到的人类染色体带型的很大一部分原因。除了一些端粒区域和简单序列DNA的染色体区域外，Alu和L1精确地呈反向分布，表明存在反向功能关系。这一发现将基因组组织与染色体结构和功能联系起来。
