人类9号染色体的DNA序列及分析
DNA sequence and analysis of human chromosome 9.
作者信息
Humphray S J, Oliver K, Hunt A R, Plumb R W, Loveland J E, Howe K L, Andrews T D, Searle S, Hunt S E, Scott C E, Jones M C, Ainscough R, Almeida J P, Ambrose K D, Ashwell R I S, Babbage A K, Babbage S, Bagguley C L, Bailey J, Banerjee R, Barker D J, Barlow K F, Bates K, Beasley H, Beasley O, Bird C P, Bray-Allen S, Brown A J, Brown J Y, Burford D, Burrill W, Burton J, Carder C, Carter N P, Chapman J C, Chen Y, Clarke G, Clark S Y, Clee C M, Clegg S, Collier R E, Corby N, Crosier M, Cummings A T, Davies J, Dhami P, Dunn M, Dutta I, Dyer L W, Earthrowl M E, Faulkner L, Fleming C J, Frankish A, Frankland J A, French L, Fricker D G, Garner P, Garnett J, Ghori J, Gilbert J G R, Glison C, Grafham D V, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall R E, Hammond S, Harley J L, Harrison E S I, Hart E A, Heath P D, Henderson C D, Hopkins B L, Howard P J, Howden P J, Huckle E, Johnson C, Johnson D, Joy A A, Kay M, Keenan S, Kershaw J K, Kimberley A M, King A, Knights A, Laird G K, Langford C, Lawlor S, Leongamornlert D A, Leversha M, Lloyd C, Lloyd D M, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay K E, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce A V, Peck A I, Porter K M, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra H K, Shownkeen R, Sims S K, Skuce C D, Smith M, Steward C A, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas D W, Wall M, Wallis J M, West A P, Whitehead S L, Willey D L, Williams S A, Wilming L, Wray P W, Young L, Ashurst J L, Coulson A, Blöcker H, Durbin R, Sulston J E, Hubbard T, Jackson M J, Bentley D R, Beck S, Rogers J, Dunham I
机构信息
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
出版信息
Nature. 2004 May 27;429(6990):369-74. doi: 10.1038/nature02465.
Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.
9号染色体在结构上具有高度多态性。它包含最大的常染色体异染色质区，在6% - 8%的人类中该区域呈现异形，而近着丝粒倒位在超过1%的人群中出现。9号染色体完成的常染色质序列由109,044,351个碱基对组成，占该区域的99.6%以上。对该序列的分析揭示了许多染色体内和染色体间的重复，包括与着丝粒和大的异染色质区相邻的片段重复。我们已经注释了1149个基因，包括与男性向女性性反转、癌症和神经退行性疾病相关的基因，以及426个假基因。该染色体包含人类基因组中最大的干扰素基因簇。还有一个基因和G + C含量异常高的区域，包括与主要组织相容性复合体中的基因同源的基因。我们还检测到最近复制的基因，它们表现出不同的序列分歧率，大概反映了自然选择。
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