The DNA sequence and analysis of human chromosome 6

A. J. Mungall; S. A. Palmer; S. K. Sims; C. A. Edwards; J. L. Ashurst; L. Wilming; M. C. Jones; R. Horton; S. E. Hunt; C. E. Scott; J. G. R. Gilbert; M. E. Clamp; G. Bethel; S. Milne; R. Ainscough; J. P. Almeida; K. D. Ambrose; T. D. Andrews

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The DNA sequence and analysis of human chromosome 6

机译：人类第6号染色体的DNA序列与分析

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Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.

机译：染色体6是亚中心染色体，约占人类基因组的6％。最终序列包含166,880,988个碱基对，代表了迄今为止已测序的最大染色体。整个序列都经过了高质量的手工注释，从而得到了证据支持的1,557个基因和633个假基因的鉴定。在这里，我们报告说，至少有96％的蛋白质编码基因已被鉴定，通过多物种比较序列分析进行评估，并为存在其他不受支持的外显子/基因提供了证据。其中有直接与癌症，精神分裂症，自身免疫和许多其他疾病有关的基因。染色体6拥有基因组中最大的转移RNA基因簇。我们显示该簇与高转录活性区域共定位。在主要组织相容性复合体的必需免疫基因座中，我们发现HLA-B是6号染色体和人类基因组中最多态的基因。

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《Nature》 |2003年第6960期|p.805-811|共7页
作者
A. J. Mungall; S. A. Palmer; S. K. Sims; C. A. Edwards; J. L. Ashurst; L. Wilming; M. C. Jones; R. Horton; S. E. Hunt; C. E. Scott; J. G. R. Gilbert; M. E. Clamp; G. Bethel; S. Milne; R. Ainscough; J. P. Almeida; K. D. Ambrose; T. D. Andrews;
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The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK;

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收录信息美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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正文语种 eng
中图分类自然科学总论;
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1. DNA sequence analysis of interlocus recombination between the human T-cell receptor gamma variable (GV) and beta diversity-joining (BD/BJ) sequences on chromosome 7 (inversion 7). [J] . Ballinger SW, Judice SA, Nicklas JA, Environmental and molecular mutagenesis. . 2002,第2期

机译：DNA序列分析人类T细胞受体伽玛变量（GV）和7号染色体上的β-多样性连接（BD / BJ）序列之间的重组（倒置7）。
2. Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the human X chromosome [J] . Huntington F. Willard, John S. Waye Nucleic acids research . 1985,第8期

机译：染色体特异的α卫星DNA：人类X染色体上的2万碱基对重复序列的核苷酸序列分析
3. AN ARRAYED LIBRARY ENRICHED IN HNCDNA CORRESPONDING TO TRANSCRIBED SEQUENCES OF HUMAN CHROMOSOME 19 - PREPARATION AND ANALYSIS [J] . Borodin A, Kopatnzev E, Wagner L, Genetic analysis. Techniques and applications . 1995,第1期

机译：与人类染色体19的翻译序列相对应的富含HNCDNA的阵列图书馆-制备和分析
4. Chromosome analysis and sorting in durum wheat and physical mapping of repetitiveDNA sequences. [C] . M. Kubalakova, J. Bartos, P. Kovarova, International Wheat Genetics Symposium . 2003

机译：染色体分析和分类在硬粒小麦和重复性序列的物理映射中。
5. LINEAR EXTRACHROMOSOMAL RIBOSOMAL-DNA OF DICTYOSTELIUM DISCOIDEUM: SEQUENCE ORGANIZATION NEAR THE TERMINI AND A SEARCH FOR CHROMOSOMAL RIBOSOMAL-DNA. [D] . EMERY, HERSCHELL SCOTT. 1982

机译：双歧杆菌的线性核糖体核糖体-DNA：末端附近的序列组织和染色体核糖体-DNA的搜索。
6. Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the human X chromosome. [O] . J S Waye, H F Willard 1985

机译：染色体特异的α卫星DNA：人X染色体2.0碱基对重复序列的核苷酸序列分析。
7. Antisense inhibition of Bcr-Abl/c-Abl synthesis promotes telomerase activity and upregulates tankyrase in human leukemia cells11The GenBank accession numbers for human Bcr-Abl and human c-Abl cDNA sequences described in this paper are X02596/M24603 and X16416, respectively. ODN1/PS-ODN1 antisense sequences and ODN3/PS-ODN3 control sense sequences correspond to the nucleotide sites localized in the breakpoint cluster region (b3a2 junction) in the 9:22 chromosomal translocation (Philadelphia chromosome, accession numbers X02596 and M24603, version X02596.1, between ex. 3061 and 3121). ODN2/PS-ODN2 antisense sequences and ODN4/PS-ODN4 control sense sequences correspond to the nucleotide site of Abl proto-oncogene, localized between ex. 961 and 1021 (accession number X16416, version X16416.1). ODN5 and PS-ODN5 are nonsense sequences and did not show homology with both cDNAs. [O] . Bakalova Rumiana, Ohba Hideki, Zhelev Zhivko, 2004

机译：对Bcr-Abl / c-Abl合成的反义抑制可促进人白血病细胞中的端粒酶活性并上调tankase酶11本文描述的人Bcr-Abl和人c-Abl cDNA序列的GenBank登录号分别为X02596 / M24603和X16416。 ODN1 / PS-ODN1反义序列和ODN3 / PS-ODN3控制有义序列对应于9:22染色体易位（费城染色体，登录号X02596和M24603，版本X02596）中位于断点簇区域（b3a2连接）的核苷酸位点.1（例如3061和3121之间）。 ODN2 / PS-ODN2反义序列和ODN4 / PS-ODN4控制有义序列对应于Abl原癌基因的核苷酸位点，位于ex。 961和1021（登录号X16416，版本X16416.1）。 ODN5和PS-ODN5是无义序列，与两个cDNA没有同源性。

The DNA sequence and analysis of human chromosome 6

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