Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q
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DOI：
10.1006/geno.1999.5927
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发表时间：
1999-09-15
期刊：
影响因子：
4.4
通讯作者：
Adams, MD
中科院分区：
文献类型：
--
作者：
Loftus, BJ;Kim, UJ;Adams, MD
几个公共资助的大规模测序工作已经开始，目标是到2005年完成第一个参考人类基因组序列。在这里，我们提出的11.8 Mb的16号染色体的基因组序列的分析结果。表观基因密度在整个区域变化，但预测的基因数量（84）表明这是一个基因贫乏的区域。这一结果也可能表明，人类基因的总数可能处于已发表估计值的低端。这一基因组区域最有趣的方面之一是存在高度同源的、最近重复的序列片段，这些序列片段分布在整个p臂上，这种重复对于作图和基因分析以及与遗传疾病相关的复发性染色体结构重排的倾向都有意义。(C)北京：科学出版社.
Several publicly funded large-scale sequencing efforts have been initiated with the goal of completing the first reference human genome sequence by the year 2005. Here we present the results of analysis of 11.8 Mb of genomic sequence from chromosome 16. The apparent gene density varies throughout the region, but the number of genes predicted (84) suggests that this is a gene-poor region. This result may also suggest that the total number of human genes is likely to be at the lower end of published estimates. One of the most interesting aspects of this region of the genome is the presence of highly homologous, recently duplicated tracts of sequence distributed throughout the p-arm. Such duplications have implications for mapping and gene analysis as well as the predisposition to recurrent chromosomal structural rearrangements associated with genetic disease. (C) 1999 Academic Press.