Ultraconserved coding regions outside the homeobox of mammalian Hox genes.
Ultraconserved coding regions outside the homeobox of mammalian Hox genes.
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DOI：
10.1186/1471-2148-8-260
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发表时间：
2008-09-24
影响因子：
3.4
通讯作者：
Nei M
中科院分区：
文献类型：
--
作者：
Lin Z;Ma H;Nei M
所有两侧对称动物都有一个共同的遗传框架，控制着它们身体结构的形成，尽管它们的形式非常多样化。编码转录因子的Hox基因在这个框架中起着核心作用。所有的Hox蛋白都含有一个高度保守的由同源异型盒基序编码的同源结构域，但其他区域通常被认为是不太保守的。在这项研究中，我们使用比较基因组学方法来推断哺乳动物Hox基因编码区可能的功能元件。我们确定了一组超保守的编码区（UCRs）外的同源框的哺乳动物Hox基因。在此，UCR被定义为在不同目哺乳动物中没有同义和非同义核苷酸取代的至少120个核苷酸的区域。进一步的分析表明，这些UCR只发生在胎盘哺乳动物中，它们显然是在胎盘哺乳动物从有袋动物中分离出来之后进化而来的。对人类SNP数据的分析表明，这些UCR是通过强纯化选择维持的。虽然哺乳动物基因组中含有超保守的非编码元件（UNE），这篇文章似乎是第一个报告的蛋白质编码基因中的UCRs。非同源盒区域的高度保守性表明它们可能对Hox基因的功能具有重要作用。我们推测UCRs可能与子宫内生育系统的发育有关。
All bilaterian animals share a general genetic framework that controls the formation of their body structures, although their forms are highly diversified. The Hox genes that encode transcription factors play a central role in this framework. All Hox proteins contain a highly conserved homeodomain encoded by the homeobox motif, but the other regions are generally assumed to be less conserved. In this study, we used comparative genomic methods to infer possible functional elements in the coding regions of mammalian Hox genes. We identified a set of ultraconserved coding regions (UCRs) outside the homeobox of mammalian Hox genes. Here a UCR is defined as a region of at least 120 nucleotides without synonymous and nonsynonymous nucleotide substitutions among different orders of mammals. Further analysis has indicated that these UCRs occur only in placental mammals and they evolved apparently after the split of placental mammals from marsupials. Analysis of human SNP data suggests that these UCRs are maintained by strong purifying selection. Although mammalian genomes are known to contain ultraconserved non-coding elements (UNEs), this paper seems to be the first to report the UCRs in protein coding genes. The extremely high degree of sequence conservation in non-homeobox regions suggests that they might have important roles for the functions of Hox genes. We speculate that UCRs have some gene regulatory functions possibly in relation to the development of the intra-uterus child-bearing system.
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DOI：
10.1073/pnas.0600927103
发表时间：
2006-05-02
影响因子：
11.1
作者：
Dühring, U;Axmann, IM;Wilde, A
通讯作者：
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影响因子：
11.4
作者：
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影响因子：
7
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影响因子：
4.7
作者：
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通讯作者：
Pfaff-Amesse, T
影响因子：
5.8
作者：
Hedges, S. Blair;Dudley, Joel;Kumar, Sudhir
通讯作者：
Kumar, Sudhir