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[人类基因组的结构组织:21号和22号染色体中核苷酸、Alu重复序列和外显子的分布]

[Structural organization of the human genome: distribution of nucleotides, Alu-repeats and exons in chromosomes 21 and 22].

作者信息

Blinov V M, Denisov S I, Saraev D V, Shvetsov D V, Uvarov D L, Oparina N Iu, Sandakhchiev L S, Kiselev L L

出版信息

Mol Biol (Mosk). 2001 Nov-Dec;35(6):1032-8.

Abstract

Analysis of DNA sequences of the human chromosomes 21 and 22 performed using a specially designed MegaGene software allowed us to obtain the following results. Purine and pyrimidine nucleotide residues are unevenly distributed along both chromosomes, displaying maxima and minima (Y waves phi) with a period of about 3 Mbp. Distribution of G + C along both chromosomes has no distinct maxima and minima, however, chromosome 21 contains considerably less G + C than chromosome 22. Both exons and Alu repeats are unevenly distributed along chromosome 21: they are scarce in its left part and abundant in the right part, while MIR elements are quite monotonously spread along this chromosome. The Alu repeats show a wave-like distribution pattern similar for both repeat orientations. The number of the Alu repeats of opposite orientations was equal for both studied chromosomes, and this may be considered a new property of the human genome. The positive correlation between the exon and Alu distribution patterns along the chromosome, the concurrent distribution of Alu repeats in both orientations along the chromosome, and the equal copy numbers for Alu in direct and inverted orientations within an individual chromosome point to their important role in the human genome, and do not fit the notion that Alu repeats belong to parasitic (junk) DNA.

摘要

使用专门设计的MegaGene软件对人类21号和22号染色体的DNA序列进行分析,使我们获得了以下结果。嘌呤和嘧啶核苷酸残基沿两条染色体分布不均,呈现出最大值和最小值(Y波φ),周期约为3 Mbp。两条染色体上G + C的分布没有明显的最大值和最小值,然而,21号染色体所含的G + C比22号染色体少得多。外显子和Alu重复序列沿21号染色体分布不均:它们在其左半部分稀少,在右半部分丰富,而MIR元件沿该染色体分布相当均匀。Alu重复序列在两种重复方向上都呈现出类似的波浪状分布模式。对于两条研究的染色体,相反方向的Alu重复序列数量相等,这可能被认为是人类基因组的一个新特性。外显子和Alu沿染色体的分布模式之间的正相关、Alu重复序列在染色体上两个方向的同时分布,以及单个染色体内直接和反向方向上Alu的拷贝数相等,都表明它们在人类基因组中起着重要作用,这与Alu重复序列属于寄生(垃圾)DNA的观点不符。

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