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人类21号染色体锌指结构域的分离、染色体定位及序列分析。

Isolation, chromosomal localization, and sequence analysis of human chromosome 21 zinc finger domains.

作者信息

Ghozi M C, Weiss Y, Chen X N, Bernstein Y, Dafni N, Korenberg J R, Groner Y

机构信息

Department of Molecular Genetics and Virology, Weizmann Institute of Science, Rehovot, Israel.

出版信息

Genomics. 1994 Apr;20(3):487-9. doi: 10.1006/geno.1994.1205.

Abstract

The zinc finger element is a conserved motif among a group of proteins involved in binding to nucleic acid. This motif has been detected in many regulatory factors and is highly represented in the human genome. To investigate the presence of zinc-finger-encoding genes on human chromosome 21, chromosome-specific libraries were screened with an oligodeoxynucleotide probe representing the conserved H-C link region between adjacent fingers. Three distinct genomic clones, designated ZF21-1, ZF21-2, and ZF21-3, were isolated and mapped to the long arm of chromosome 21 as well as to the heterochromatic short arm of several other chromosomes. DNA sequence analysis has shown that these genomic clones contain multiple zinc finger elements of the Kruppel type with only partial similarity to other known zinc finger genes. However, in each clone, few fingers were degenerated; they contain inframe stop codons and frameshifts that would preclude their translation. It seems therefore, that these chromosome 21 zinc finger sequences are not parts of functional genes. Nevertheless, the possibility that these domains are transcribed, and thus might have a regulatory role, is considered.

摘要

锌指元件是一组参与核酸结合的蛋白质中保守的基序。该基序已在许多调节因子中被检测到,并且在人类基因组中高度富集。为了研究人类21号染色体上锌指编码基因的存在情况,用代表相邻锌指之间保守的H-C连接区域的寡脱氧核苷酸探针筛选了染色体特异性文库。分离出了三个不同的基因组克隆,分别命名为ZF21-1、ZF21-2和ZF21-3,并将它们定位到21号染色体的长臂以及其他几条染色体的异染色质短臂上。DNA序列分析表明,这些基因组克隆包含多个克鲁ppel型锌指元件,与其他已知锌指基因仅有部分相似性。然而,在每个克隆中,很少有锌指发生退化;它们含有框内终止密码子和移码,这将阻止它们的翻译。因此,这些21号染色体锌指序列似乎不是功能基因的一部分。尽管如此,仍考虑了这些结构域被转录并因此可能具有调节作用的可能性。

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