DDX11L: a novel transcript family emerging from human subtelomeric regions.

DDX11L: a novel transcript family emerging from human subtelomeric regions.
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DOI:
10.1186/1471-2164-10-250
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发表时间:
2009-05-28
期刊:
影响因子:
4.4
通讯作者:
Ciccodicola A
Ciccodicola A
中科院分区:
生物学2区
文献类型:
--
作者:
Costa V;Casamassimi A;Roberto R;Gianfrancesco F;Matarazzo MR;D'Urso M;D'Esposito M;Rocchi M;Ciccodicola A

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人类染色体的亚端粒区域表现出非凡的可塑性。迄今为止,由于高GC含量和端粒重复的存在,亚端粒序列在基因组文库中代表性不足,因此它们的序列在完成的人类基因组序列中是不完整的,并且关于亚端粒的组织、进化和功能仍有很多有待了解。事实上,仅在最近几年,一些研究就在人类亚端粒中揭示了新的基因家族成员。在一个旨在分析位于人类 X 染色体长臂端粒区域的基因的项目中,我们鉴定了一个新的转录家族 DDX11L,其成员映射到 1pter、2q13/14.1、2qter、3qter、6pter、9pter/9qter、11pter、12pter、15qter、16pter、17pter、 19pter、20pter/20qter、Xpter/Xqter 和 Yqter。此外,我们对人类染色体中代表性不足的亚端粒进行了部分测序,显示出共同的进化起源。我们的数据表明,一个祖先基因起源于灵长类 DDX11 基因的重排部分,并沿着许多亚端粒位置传播,正在人类染色体的亚端粒中出现,定义了一个新的基因家族。这些发现支持这样一种可能性:这些区域(不同染色体之间的 DNA 交换位点)的高可塑性可能会引发新基因的出现。
The subtelomeric regions of human chromosomes exhibit an extraordinary plasticity. To date, due to the high GC content and to the presence of telomeric repeats, the subtelomeric sequences are underrepresented in the genomic libraries and consequently their sequences are incomplete in the finished human genome sequence, and still much remains to be learned about subtelomere organization, evolution and function. Indeed, only in recent years, several studies have disclosed, within human subtelomeres, novel gene family members. During a project aimed to analyze genes located in the telomeric region of the long arm of the human X chromosome, we have identified a novel transcript family, DDX11L, members of which map to 1pter, 2q13/14.1, 2qter, 3qter, 6pter, 9pter/9qter, 11pter, 12pter, 15qter, 16pter, 17pter, 19pter, 20pter/20qter, Xpter/Xqter and Yqter. Furthermore, we partially sequenced the underrepresented subtelomeres of human chromosomes showing a common evolutionary origin. Our data indicate that an ancestral gene, originated as a rearranged portion of the primate DDX11 gene, and propagated along many subtelomeric locations, is emerging within subtelomeres of human chromosomes, defining a novel gene family. These findings support the possibility that the high plasticity of these regions, sites of DNA exchange among different chromosomes, could trigger the emergence of new genes.
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