The DNA sequence of human chromosome 7
The DNA sequence of human chromosome 7
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DOI：
10.1038/nature01782
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发表时间：
2003-07-10
期刊：
影响因子：
64.8
通讯作者：
Wilson, RK
中科院分区：
文献类型：
--
作者：
Hillier, LW;Fulton, RS;Wilson, RK
人类7号染色体历来受到人类遗传学界的高度关注，主要与寻找囊性纤维化基因和与各种形式的癌症相关的频繁的细胞遗传学变化有关。在这里，我们展示了超过1.53亿个碱基对，代表了第7号染色体的99.4%的常染色质序列，这是迄今为止完成的第一个常染色质染色体。该序列与先前建立的物理和遗传图谱具有良好的一致性，并且显示出不同寻常的部分重复序列（8.2%），两臂之间存在显着差异。我们的初步分析鉴定了1,150个蛋白质编码基因，其中605个已被互补DNA序列证实，另外还有941个假基因。通过转录序列确认的基因中，有些是多态的，因为突变会破坏阅读框。
Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.