Evolution of the NANOG pseudogene family in the human and chimpanzee genomes.

Evolution of the NANOG pseudogene family in the human and chimpanzee genomes.
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DOI:
10.1186/1471-2148-6-12
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发表时间:
2006-02-09
影响因子:
3.4
通讯作者:
Maughan PJ
Maughan PJ
中科院分区:
生物学2区
文献类型:
--
作者:
Fairbanks DJ;Maughan PJ

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NANOG基因在哺乳动物胚胎干细胞中表达,在那里它维持细胞多能性。由此产生了一个异常庞大的假基因家族,在人类基因组中有一个未经处理的假基因和十个经过处理的假基因。本文比较了人类和黑猩猩基因组中的NANOG基因及其假基因,并推导了这个假基因家族的进化历史。与人类基因组相比,NANOG基因和除NANOGP 8之外的所有假基因都存在于黑猩猩基因组中预期的正染色体位置,表明它们的起源早于人类-黑猩猩分歧。对侧翼DNA序列的分析表明,黑猩猩基因组中不存在NANOGP 8。基于最简约的推断源基因突变的排序,在人类和黑猩猩基因组中NANOG假基因家族的推断进化起源,按照最古老到最新的顺序,是NANOGP 6,NANOGP 5,NANOGP 3,NANOGP 10,NANOGP 2,NANOGP 9,NANOGP 7,NANOGP 1和NANOGP 4。所有这些假基因都固定在人类-黑猩猩共同祖先的基因组中。NANOGP 8是最近发现的一个假基因,它在人类-黑猩猩分化后仅起源于人类谱系。NANOGP 1显然是一个未加工的假基因。其序列与功能性NANOG基因的阅读框架的比较表明,这种明显的假基因在复制后仍然具有功能,因此,其阅读框架受到选择驱动的保护,并且它可能保留一些功能,或者其功能的丧失可能是进化上最近的。
The NANOG gene is expressed in mammalian embryonic stem cells where it maintains cellular pluripotency. An unusually large family of pseudogenes arose from it with one unprocessed and ten processed pseudogenes in the human genome. This article compares the NANOG gene and its pseudogenes in the human and chimpanzee genomes and derives an evolutionary history of this pseudogene family. The NANOG gene and all pseudogenes except NANOGP8 are present at their expected orthologous chromosomal positions in the chimpanzee genome when compared to the human genome, indicating that their origins predate the human-chimpanzee divergence. Analysis of flanking DNA sequences demonstrates that NANOGP8 is absent from the chimpanzee genome. Based on the most parsimonious ordering of inferred source-gene mutations, the deduced evolutionary origins for the NANOG pseudogene family in the human and chimpanzee genomes, in order of most ancient to most recent, are NANOGP6, NANOGP5, NANOGP3, NANOGP10, NANOGP2, NANOGP9, NANOGP7, NANOGP1, and NANOGP4. All of these pseudogenes were fixed in the genome of the human-chimpanzee common ancestor. NANOGP8 is the most recent pseudogene and it originated exclusively in the human lineage after the human-chimpanzee divergence. NANOGP1 is apparently an unprocessed pseudogene. Comparison of its sequence to the functional NANOG gene's reading frame suggests that this apparent pseudogene remained functional after duplication and, therefore, was subject to selection-driven conservation of its reading frame, and that it may retain some functionality or that its loss of function may be evolutionarily recent.
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Mitsui, K;Tokuzawa, Y;Yamanaka, S
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