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染色体带、它们的染色质特征及其功能特性。

Chromosome bands, their chromatin flavors, and their functional features.

作者信息

Holmquist G P

机构信息

Department of Biology, City of Hope Medical Center, Duarte, CA 91010.

出版信息

Am J Hum Genet. 1992 Jul;51(1):17-37.

Abstract

To show that the input pattern of chromosomal mutations is highly organized relative to the band patterns along human chromosomes, a new term, "metaphase chromatin flavor," is introduced. Five different flavors of euchromatic metaphase bands are cytologically identified along a human ideogram. These are G-bands and, based upon combinations of extreme Alu richness and GC richness, four different R-band flavors. The two flavors with extremely GC-rich components, traditionally called "T-bands," represent only 15% of all bands. However, they contain 65% of mapped genes, 19 of 25 mapped oncogenes, most cancer-associated rearrangements, evolutionary rearrangements, meiotic chiasmata, and X-ray-induced breaks. Flavors with extremely Alu-rich flavors are also involved in melphalan-induced rearrangements, pachytene stretching, and mitotic chiasmata. Frequencies of CpG islands, CCGCCC boxes, retroposon families, and genes are characteristic to each chromatin flavor and will facilitate alignment of genome sequences onto ideograms of chromatin flavor. The influence of chromatin flavor on the evolution of a gene's sequence is so strong that one can infer the flavor of the band in which a gene resides from the sequence of the gene itself. Correlation coefficients for many pairs of mapped genetic variables, while globally high, are quite low within bands of one flavor, implicating a concerted mode of evolution for bands of one chromatin flavor.

摘要

为了表明染色体突变的输入模式相对于人类染色体上的带型是高度有序的,引入了一个新术语“中期染色质特征”。沿着人类染色体 ideogram 在细胞学上鉴定出五种不同的常染色质中期带特征。这些是 G 带,以及基于极端 Alu 丰富度和 GC 丰富度的组合,四种不同的 R 带特征。两种具有极高 GC 丰富成分的特征,传统上称为“T 带”,仅占所有带的 15%。然而,它们包含 65% 的已定位基因、25 个已定位癌基因中的 19 个、大多数与癌症相关的重排、进化重排、减数分裂交叉和 X 射线诱导的断裂。具有极高 Alu 丰富度特征的带也参与美法仑诱导的重排、粗线期伸展和有丝分裂交叉。CpG 岛、CCGCCC 框、逆转座子家族和基因的频率是每种染色质特征所特有的,这将有助于将基因组序列与染色质特征的 ideogram 进行比对。染色质特征对基因序列进化的影响非常强烈,以至于可以从基因本身的序列推断出基因所在带的特征。许多已定位遗传变量对之间的相关系数虽然总体上很高,但在一种特征的带内相当低,这意味着一种染色质特征的带具有协同进化模式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/be2d/1682890/32c5340c7871/ajhg00065-0029-a.jpg

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