Duplication and relocation of the functional DPY19L2 gene within low copy repeats.
Duplication and relocation of the functional DPY19L2 gene within low copy repeats.
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DOI：
10.1186/1471-2164-7-45
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发表时间：
2006-03-09
期刊：
影响因子：
4.4
通讯作者：
Scherer, Stephen W.
中科院分区：
文献类型：
--
作者：
Carson, Andrew R.;Cheung, Joseph;Scherer, Stephen W.
低拷贝重复（lcr）被认为在最近的基因进化中起着重要的作用，特别是当它们促进基因复制时。重复基因是适应性进化的基础，为新的或共享的基因功能的发展提供了基础。此外，重复基因的沉默可以通过引起功能基因的基因组重新定位而间接影响适应性进化。从理论上讲，这些变化是物种形成的一个主要因素。在这里，我们提出了一个新的例子，显示功能基因在LCR内重新定位。我们鉴定了人类7号和12号染色体上8个相关lcr的基因组结构和基因含量。在这些区域发现了一个新的跨膜基因家族的两个成员，DPY19L，以及六个转录的假基因。其中一个基因，DPY19L2，在12号染色体上发现，与小鼠同源基因不一致。相反，与小鼠Dpy19l2相同的人类基因座包含一个假基因DPY19L2P1。这表明该基因的祖先拷贝已被沉默，而后代拷贝仍保持活跃。因此，该基因的功能拷贝已被重新定位到一个新的基因组位点。然后，我们描述了DPY19L基因家族从无脊椎动物中发现的单个基因的扩展和进化。古代的重复导致了不同谱系中的多个同源物，鱼、青蛙和鸟类中有三个同源物，哺乳动物中有四个同源物。我们的研究结果表明，DPY19L家族已经扩展到整个脊椎动物谱系，并且在lcr中经历了最近的灵长类特异性进化。
Low copy repeats (LCRs) are thought to play an important role in recent gene evolution, especially when they facilitate gene duplications. Duplicate genes are fundamental to adaptive evolution, providing substrates for the development of new or shared gene functions. Moreover, silencing of duplicate genes can have an indirect effect on adaptive evolution by causing genomic relocation of functional genes. These changes are theorized to have been a major factor in speciation. Here we present a novel example showing functional gene relocation within a LCR. We characterize the genomic structure and gene content of eight related LCRs on human Chromosomes 7 and 12. Two members of a novel transmembrane gene family, DPY19L, were identified in these regions, along with six transcribed pseudogenes. One of these genes, DPY19L2, is found on Chromosome 12 and is not syntenic with its mouse orthologue. Instead, the human locus syntenic to mouse Dpy19l2 contains a pseudogene, DPY19L2P1. This indicates that the ancestral copy of this gene has been silenced, while the descendant copy has remained active. Thus, the functional copy of this gene has been relocated to a new genomic locus. We then describe the expansion and evolution of the DPY19L gene family from a single gene found in invertebrate animals. Ancient duplications have led to multiple homologues in different lineages, with three in fish, frogs and birds and four in mammals. Our results show that the DPY19L family has expanded throughout the vertebrate lineage and has undergone recent primate-specific evolution within LCRs.
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DOI：
10.1093/bioinformatics/8.3.275
发表时间：
1992-06-01
期刊：
COMPUTER APPLICATIONS IN THE BIOSCIENCES
影响因子：
--
作者：
JONES, DT;TAYLOR, WR;THORNTON, JM
通讯作者：
THORNTON, JM
影响因子：
5.8
作者：
Mayor, C;Brudno, M;Dubchak, I
通讯作者：
Dubchak, I
影响因子：
7
作者：
Dubchak, I;Brudno, M;Frazer, KA
通讯作者：
Frazer, KA
影响因子：
3.9
作者：
FERRIS, SD;WHITT, GS
通讯作者：
WHITT, GS
影响因子：
56.9
作者：
Bailey, JA;Gu, ZP;Eichler, EE
通讯作者：
Eichler, EE