对小鼠、大鼠和人类染色体中α-类珠蛋白基因簇的比较分析表明了保守同线性中断背后的一种机制。
Comparative analysis of the alpha-like globin clusters in mouse, rat, and human chromosomes indicates a mechanism underlying breaks in conserved synteny.
作者信息
Tufarelli Cristina, Hardison Ross, Miller Webb, Hughes Jim, Clark Kevin, Ventress Nicki, Frischauf Anna Maria, Higgs Douglas R
机构信息
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.
出版信息
Genome Res. 2004 Apr;14(4):623-30. doi: 10.1101/gr.2143604.
Abstract
We have sequenced and fully annotated a 65,871-bp region of mouse Chromosome 17 including the Hba-ps4 alpha-globin pseudogene. Comparative sequence analysis with the functional alpha-globin loci at human Chromosome 16p13.3 and mouse Chromosome 11 shows that this segment of mouse Chromosome 17 contains a group of three alpha-like pseudogenes (Hba-psm-Hba-ps4-Hba-q3), similar to the duplicated sets found at the functional mouse cluster on Chromosome 11. In addition, exons 7 to 12 of the mLuc7L gene are present just downstream from the pseudogene cluster, indicating that this clone contains the region in which human 16p13.3 switches in synteny between mouse Chromosomes 11 and 17. Comparison of the sequences around the alpha-like clusters on the two mouse chromosomes reveals the presence of conserved tandem repeats. We propose that these repetitive elements have played a role in the fragmentation of the mouse alpha cluster during evolution.
摘要
我们已经对小鼠17号染色体上一个65,871碱基对的区域进行了测序和全面注释，该区域包括Hba-ps4α-珠蛋白假基因。与人类16号染色体p13.3和小鼠11号染色体上的功能性α-珠蛋白基因座进行的比较序列分析表明，小鼠17号染色体的这一片段包含一组三个α样假基因（Hba-psm-Hba-ps4-Hba-q3），类似于在11号染色体上功能性小鼠基因簇中发现的重复序列。此外，mLuc7L基因的外显子7至12位于假基因簇下游，这表明该克隆包含人类16p13.3在小鼠11号和17号染色体之间同线性转换的区域。对两条小鼠染色体上α样基因簇周围序列的比较揭示了保守串联重复序列的存在。我们认为这些重复元件在小鼠α基因簇的进化过程中对其片段化起到了作用。
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本文引用的文献
1
Initial sequencing and comparative analysis of the mouse genome.小鼠基因组的初步测序与比较分析。
Nature. 2002 Dec 5;420(6915):520-62. doi: 10.1038/nature01262.
2
Conserved CTCF insulator elements flank the mouse and human beta-globin loci.保守的CTCF绝缘子元件位于小鼠和人类β-珠蛋白基因座两侧。
Mol Cell Biol. 2002 Jun;22(11):3820-31. doi: 10.1128/MCB.22.11.3820-3831.2002.
3
Identification of a conserved erythroid specific domain of histone acetylation across the alpha-globin gene cluster.鉴定跨越α-珠蛋白基因簇的保守的红细胞特异性组蛋白乙酰化结构域。
Proc Natl Acad Sci U S A. 2001 Oct 9;98(21):12114-9. doi: 10.1073/pnas.201413098. Epub 2001 Oct 2.
4
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.人类16号染色体短臂最末端富含基因区域的单体性导致的表型效应最小。
Eur J Hum Genet. 2001 Mar;9(3):217-25. doi: 10.1038/sj.ejhg.5200610.
5
Characterization of a widely expressed gene (LUC7-LIKE; LUC7L) defining the centromeric boundary of the human alpha-globin domain.一个广泛表达的基因（LUC7样基因；LUC7L）的特征描述，该基因定义了人类α-珠蛋白结构域的着丝粒边界。
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6
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7
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Hum Mol Genet. 2001 Feb 15;10(4):339-52. doi: 10.1093/hmg/10.4.339.
8
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Genome Res. 2000 Sep;10(9):1369-80. doi: 10.1101/gr.145200.
9
Conserved noncoding sequences are reliable guides to regulatory elements.保守非编码序列是调控元件的可靠指引。
Trends Genet. 2000 Sep;16(9):369-72. doi: 10.1016/s0168-9525(00)02081-3.
10
Structural and functional conservation at the boundaries of the chicken beta-globin domain.鸡β-珠蛋白结构域边界处的结构与功能保守性
EMBO J. 2000 May 15;19(10):2315-22. doi: 10.1093/emboj/19.10.2315.
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