共查询到20条相似文献,搜索用时 827 毫秒
1.
Sequence and analysis of rice chromosome 4 总被引:1,自引:0,他引:1
Feng Q Zhang Y Hao P Wang S Fu G Huang Y Li Y Zhu J Liu Y Hu X Jia P Zhang Y Zhao Q Ying K Yu S Tang Y Weng Q Zhang L Lu Y Mu J Lu Y Zhang LS Yu Z Fan D Liu X Lu T Li C Wu Y Sun T Lei H Li T Hu H Guan J Wu M Zhang R Zhou B Chen Z Chen L Jin Z Wang R Yin H Cai Z Ren S Lv G Gu W Zhu G Tu Y Jia J Zhang Y Chen J Kang H Chen X Shao C Sun Y Hu Q Zhang X Zhang W Wang L Ding C Sheng H Gu J Chen S Ni L Zhu F Chen W Lan L Lai Y Cheng Z Gu M Jiang J Li J Hong G Xue Y Han B 《Nature》2002,420(6913):316-320
Rice is the principal food for over half of the population of the world. With its genome size of 430 megabase pairs (Mb), the cultivated rice species Oryza sativa is a model plant for genome research. Here we report the sequence analysis of chromosome 4 of O. sativa, one of the first two rice chromosomes to be sequenced completely. The finished sequence spans 34.6 Mb and represents 97.3% of the chromosome. In addition, we report the longest known sequence for a plant centromere, a completely sequenced contig of 1.16 Mb corresponding to the centromeric region of chromosome 4. We predict 4,658 protein coding genes and 70 transfer RNA genes. A total of 1,681 predicted genes match available unique rice expressed sequence tags. Transposable elements have a pronounced bias towards the euchromatic regions, indicating a close correlation of their distributions to genes along the chromosome. Comparative genome analysis between cultivated rice subspecies shows that there is an overall syntenic relationship between the chromosomes and divergence at the level of single-nucleotide polymorphisms and insertions and deletions. By contrast, there is little conservation in gene order between rice and Arabidopsis. 相似文献
2.
Theologis A Ecker JR Palm CJ Federspiel NA Kaul S White O Alonso J Altafi H Araujo R Bowman CL Brooks SY Buehler E Chan A Chao Q Chen H Cheuk RF Chin CW Chung MK Conn L Conway AB Conway AR Creasy TH Dewar K Dunn P Etgu P Feldblyum TV Feng J Fong B Fujii CY Gill JE Goldsmith AD Haas B Hansen NF Hughes B Huizar L Hunter JL Jenkins J Johnson-Hopson C Khan S Khaykin E Kim CJ Koo HL Kremenetskaia I Kurtz DB Kwan A Lam B Langin-Hooper S Lee A Lee JM Lenz CA Li JH Li Y Lin X Liu SX Liu ZA Luros JS 《Nature》2000,408(6814):816-820
The genome of the flowering plant Arabidopsis thaliana has five chromosomes. Here we report the sequence of the largest, chromosome 1, in two contigs of around 14.2 and 14.6 megabases. The contigs extend from the telomeres to the centromeric borders, regions rich in transposons, retrotransposons and repetitive elements such as the 180-base-pair repeat. The chromosome represents 25% of the genome and contains about 6,850 open reading frames, 236 transfer RNAs (tRNAs) and 12 small nuclear RNAs. There are two clusters of tRNA genes at different places on the chromosome. One consists of 27 tRNA(Pro) genes and the other contains 27 tandem repeats of tRNA(Tyr)-tRNA(Tyr)-tRNA(Ser) genes. Chromosome 1 contains about 300 gene families with clustered duplications. There are also many repeat elements, representing 8% of the sequence. 相似文献
3.
Glöckner G Eichinger L Szafranski K Pachebat JA Bankier AT Dear PH Lehmann R Baumgart C Parra G Abril JF Guigó R Kumpf K Tunggal B Cox E Quail MA Platzer M Rosenthal A Noegel AA;Dictyostelium Genome Sequencing Consortium 《Nature》2002,418(6893):79-85
The genome of the lower eukaryote Dictyostelium discoideum comprises six chromosomes. Here we report the sequence of the largest, chromosome 2, which at 8 megabases (Mb) represents about 25% of the genome. Despite an A + T content of nearly 80%, the chromosome codes for 2,799 predicted protein coding genes and 73 transfer RNA genes. This gene density, about 1 gene per 2.6 kilobases (kb), is surpassed only by Saccharomyces cerevisiae (one per 2 kb) and is similar to that of Schizosaccharomyces pombe (one per 2.5 kb). If we assume that the other chromosomes have a similar gene density, we can expect around 11,000 genes in the D. discoideum genome. A significant number of the genes show higher similarities to genes of vertebrates than to those of other fully sequenced eukaryotes. This analysis strengthens the view that the evolutionary position of D. discoideum is located before the branching of metazoa and fungi but after the divergence of the plant kingdom, placing it close to the base of metazoan evolution. 相似文献
4.
Tabata S Kaneko T Nakamura Y Kotani H Kato T Asamizu E Miyajima N Sasamoto S Kimura T Hosouchi T Kawashima K Kohara M Matsumoto M Matsuno A Muraki A Nakayama S Nakazaki N Naruo K Okumura S Shinpo S Takeuchi C Wada T Watanabe A Yamada M Yasuda M Sato S de la Bastide M Huang E Spiegel L Gnoj L O'Shaughnessy A Preston R Habermann K Murray J Johnson D Rohlfing T Nelson J Stoneking T Pepin K Spieth J Sekhon M Armstrong J Becker M Belter E Cordum H Cordes M Courtney L Courtney W Dante M Du H 《Nature》2000,408(6814):823-826
The genome of the model plant Arabidopsis thaliana has been sequenced by an international collaboration, The Arabidopsis Genome Initiative. Here we report the complete sequence of chromosome 5. This chromosome is 26 megabases long; it is the second largest Arabidopsis chromosome and represents 21% of the sequenced regions of the genome. The sequence of chromosomes 2 and 4 have been reported previously and that of chromosomes 1 and 3, together with an analysis of the complete genome sequence, are reported in this issue. Analysis of the sequence of chromosome 5 yields further insights into centromere structure and the sequence determinants of heterochromatin condensation. The 5,874 genes encoded on chromosome 5 reveal several new functions in plants, and the patterns of gene organization provide insights into the mechanisms and extent of genome evolution in plants. 相似文献
5.
Salanoubat M Lemcke K Rieger M Ansorge W Unseld M Fartmann B Valle G Blöcker H Perez-Alonso M Obermaier B Delseny M Boutry M Grivell LA Mache R Puigdomènech P De Simone V Choisne N Artiguenave F Robert C Brottier P Wincker P Cattolico L Weissenbach J Saurin W Quétier F Schäfer M Müller-Auer S Gabel C Fuchs M Benes V Wurmbach E Drzonek H Erfle H Jordan N Bangert S Wiedelmann R Kranz H Voss H Holland R Brandt P Nyakatura G Vezzi A D'Angelo M Pallavicini A Toppo S Simionati B Conrad A Hornischer K 《Nature》2000,408(6814):820-822
Arabidopsis thaliana is an important model system for plant biologists. In 1996 an international collaboration (the Arabidopsis Genome Initiative) was formed to sequence the whole genome of Arabidopsis and in 1999 the sequence of the first two chromosomes was reported. The sequence of the last three chromosomes and an analysis of the whole genome are reported in this issue. Here we present the sequence of chromosome 3, organized into four sequence segments (contigs). The two largest (13.5 and 9.2 Mb) correspond to the top (long) and the bottom (short) arms of chromosome 3, and the two small contigs are located in the genetically defined centromere. This chromosome encodes 5,220 of the roughly 25,500 predicted protein-coding genes in the genome. About 20% of the predicted proteins have significant homology to proteins in eukaryotic genomes for which the complete sequence is available, pointing to important conserved cellular functions among eukaryotes. 相似文献
6.
Dunham A Matthews LH Burton J Ashurst JL Howe KL Ashcroft KJ Beare DM Burford DC Hunt SE Griffiths-Jones S Jones MC Keenan SJ Oliver K Scott CE Ainscough R Almeida JP Ambrose KD Andrews DT Ashwell RI Babbage AK Bagguley CL Bailey J Bannerjee R Barlow KF Bates K Beasley H Bird CP Bray-Allen S Brown AJ Brown JY Burrill W Carder C Carter NP Chapman JC Clamp ME Clark SY Clarke G Clee CM Clegg SC Cobley V Collins JE Corby N Coville GJ Deloukas P Dhami P Dunham I Dunn M Earthrowl ME Ellington AG 《Nature》2004,428(6982):522-528
Chromosome 13 is the largest acrocentric human chromosome. It carries genes involved in cancer including the breast cancer type 2 (BRCA2) and retinoblastoma (RB1) genes, is frequently rearranged in B-cell chronic lymphocytic leukaemia, and contains the DAOA locus associated with bipolar disorder and schizophrenia. We describe completion and analysis of 95.5 megabases (Mb) of sequence from chromosome 13, which contains 633 genes and 296 pseudogenes. We estimate that more than 95.4% of the protein-coding genes of this chromosome have been identified, on the basis of comparison with other vertebrate genome sequences. Additionally, 105 putative non-coding RNA genes were found. Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb. 相似文献
7.
Zody MC Garber M Adams DJ Sharpe T Harrow J Lupski JR Nicholson C Searle SM Wilming L Young SK Abouelleil A Allen NR Bi W Bloom T Borowsky ML Bugalter BE Butler J Chang JL Chen CK Cook A Corum B Cuomo CA de Jong PJ DeCaprio D Dewar K FitzGerald M Gilbert J Gibson R Gnerre S Goldstein S Grafham DV Grocock R Hafez N Hagopian DS Hart E Norman CH Humphray S Jaffe DB Jones M Kamal M Khodiyar VK LaButti K Laird G Lehoczky J Liu X Lokyitsang T Loveland J Lui A Macdonald P Major JE Matthews L Mauceli E 《Nature》2006,440(7087):1045-1049
Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in protein-coding genes, having the second highest gene density in the genome. It is also enriched in segmental duplications, ranking third in density among the autosomes. Here we report a finished sequence for human chromosome 17, as well as a structural comparison with the finished sequence for mouse chromosome 11, the first finished mouse chromosome. Comparison of the orthologous regions reveals striking differences. In contrast to the typical pattern seen in mammalian evolution, the human sequence has undergone extensive intrachromosomal rearrangement, whereas the mouse sequence has been remarkably stable. Moreover, although the human sequence has a high density of segmental duplication, the mouse sequence has a very low density. Notably, these segmental duplications correspond closely to the sites of structural rearrangement, demonstrating a link between duplication and rearrangement. Examination of the main classes of duplicated segments provides insight into the dynamics underlying expansion of chromosome-specific, low-copy repeats in the human genome. 相似文献
8.
The genome sequence and structure of rice chromosome 1 总被引:2,自引:0,他引:2
Sasaki T Matsumoto T Yamamoto K Sakata K Baba T Katayose Y Wu J Niimura Y Cheng Z Nagamura Y Antonio BA Kanamori H Hosokawa S Masukawa M Arikawa K Chiden Y Hayashi M Okamoto M Ando T Aoki H Arita K Hamada M Harada C Hijishita S Honda M Ichikawa Y Idonuma A Iijima M Ikeda M Ikeno M Ito S Ito T Ito Y Ito Y Iwabuchi A Kamiya K Karasawa W Katagiri S Kikuta A Kobayashi N Kono I Machita K Maehara T Mizuno H Mizubayashi T Mukai Y Nagasaki H Nakashima M Nakama Y Nakamichi Y Nakamura M Namiki N 《Nature》2002,420(6913):312-316
The rice species Oryza sativa is considered to be a model plant because of its small genome size, extensive genetic map, relative ease of transformation and synteny with other cereal crops. Here we report the essentially complete sequence of chromosome 1, the longest chromosome in the rice genome. We summarize characteristics of the chromosome structure and the biological insight gained from the sequence. The analysis of 43.3 megabases (Mb) of non-overlapping sequence reveals 6,756 protein coding genes, of which 3,161 show homology to proteins of Arabidopsis thaliana, another model plant. About 30% (2,073) of the genes have been functionally categorized. Rice chromosome 1 is (G + C)-rich, especially in its coding regions, and is characterized by several gene families that are dispersed or arranged in tandem repeats. Comparison with a draft sequence indicates the importance of a high-quality finished sequence. 相似文献
9.
Muzny DM Scherer SE Kaul R Wang J Yu J Sudbrak R Buhay CJ Chen R Cree A Ding Y Dugan-Rocha S Gill R Gunaratne P Harris RA Hawes AC Hernandez J Hodgson AV Hume J Jackson A Khan ZM Kovar-Smith C Lewis LR Lozado RJ Metzker ML Milosavljevic A Miner GR Morgan MB Nazareth LV Scott G Sodergren E Song XZ Steffen D Wei S Wheeler DA Wright MW Worley KC Yuan Y Zhang Z Adams CQ Ansari-Lari MA Ayele M Brown MJ Chen G Chen Z Clendenning J Clerc-Blankenburg KP Chen R Chen Z Davis C Delgado O Dinh HH Dong W 《Nature》2006,440(7088):1194-1198
After the completion of a draft human genome sequence, the International Human Genome Sequencing Consortium has proceeded to finish and annotate each of the 24 chromosomes comprising the human genome. Here we describe the sequencing and analysis of human chromosome 3, one of the largest human chromosomes. Chromosome 3 comprises just four contigs, one of which currently represents the longest unbroken stretch of finished DNA sequence known so far. The chromosome is remarkable in having the lowest rate of segmental duplication in the genome. It also includes a chemokine receptor gene cluster as well as numerous loci involved in multiple human cancers such as the gene encoding FHIT, which contains the most common constitutive fragile site in the genome, FRA3B. Using genomic sequence from chimpanzee and rhesus macaque, we were able to characterize the breakpoints defining a large pericentric inversion that occurred some time after the split of Homininae from Ponginae, and propose an evolutionary history of the inversion. 相似文献
10.
Human subtelomeres are polymorphic patchworks of interchromosomal segmental duplications at the ends of chromosomes. Here we provide evidence that these patchworks arose recently through repeated translocations between chromosome ends. We assess the relative contribution of the principal mechanisms of ectopic DNA repair to the formation of subtelomeric duplications and find that non-homologous end-joining predominates. Once subtelomeric duplications arise, they are prone to homology-based sequence transfers as shown by the incongruent phylogenetic relationships of neighbouring sections. Interchromosomal recombination of subtelomeres is a potent force for recent change. Cytogenetic and sequence analyses reveal that pieces of the subtelomeric patchwork have changed location and copy number with unprecedented frequency during primate evolution. Half of the known subtelomeric sequence has formed recently, through human-specific sequence transfers and duplications. Subtelomeric dynamics result in a gene duplication rate significantly higher than the genome average and could have both advantageous and pathological consequences in human biology. More generally, our analyses suggest an evolutionary cycle between segmental polymorphisms and genome rearrangements. 相似文献
11.
Deloukas P Earthrowl ME Grafham DV Rubenfield M French L Steward CA Sims SK Jones MC Searle S Scott C Howe K Hunt SE Andrews TD Gilbert JG Swarbreck D Ashurst JL Taylor A Battles J Bird CP Ainscough R Almeida JP Ashwell RI Ambrose KD Babbage AK Bagguley CL Bailey J Banerjee R Bates K Beasley H Bray-Allen S Brown AJ Brown JY Burford DC Burrill W Burton J Cahill P Camire D Carter NP Chapman JC Clark SY Clarke G Clee CM Clegg S Corby N Coulson A Dhami P Dutta I Dunn M Faulkner L Frankish A 《Nature》2004,429(6990):375-381
12.
Mayer K Schüller C Wambutt R Murphy G Volckaert G Pohl T Düsterhöft A Stiekema W Entian KD Terryn N Harris B Ansorge W Brandt P Grivell L Rieger M Weichselgartner M de Simone V Obermaier B Mache R Müller M Kreis M Delseny M Puigdomenech P Watson M Schmidtheini T Reichert B Portatelle D Perez-Alonso M Boutry M Bancroft I Vos P Hoheisel J Zimmermann W Wedler H Ridley P Langham SA McCullagh B Bilham L Robben J Van der Schueren J Grymonprez B Chuang YJ Vandenbussche F Braeken M Weltjens I Voet M 《Nature》1999,402(6763):769-777
The higher plant Arabidopsis thaliana (Arabidopsis) is an important model for identifying plant genes and determining their function. To assist biological investigations and to define chromosome structure, a coordinated effort to sequence the Arabidopsis genome was initiated in late 1996. Here we report one of the first milestones of this project, the sequence of chromosome 4. Analysis of 17.38 megabases of unique sequence, representing about 17% of the genome, reveals 3,744 protein coding genes, 81 transfer RNAs and numerous repeat elements. Heterochromatic regions surrounding the putative centromere, which has not yet been completely sequenced, are characterized by an increased frequency of a variety of repeats, new repeats, reduced recombination, lowered gene density and lowered gene expression. Roughly 60% of the predicted protein-coding genes have been functionally characterized on the basis of their homology to known genes. Many genes encode predicted proteins that are homologous to human and Caenorhabditis elegans proteins. 相似文献
13.
Cheung VG Nowak N Jang W Kirsch IR Zhao S Chen XN Furey TS Kim UJ Kuo WL Olivier M Conroy J Kasprzyk A Massa H Yonescu R Sait S Thoreen C Snijders A Lemyre E Bailey JA Bruzel A Burrill WD Clegg SM Collins S Dhami P Friedman C Han CS Herrick S Lee J Ligon AH Lowry S Morley M Narasimhan S Osoegawa K Peng Z Plajzer-Frick I Quade BJ Scott D Sirotkin K Thorpe AA Gray JW Hudson J Pinkel D Ried T Rowen L Shen-Ong GL Strausberg RL Birney E Callen DF Cheng JF Cox DR Doggett NA Carter NP Eichler EE 《Nature》2001,409(6822):953-958
We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer. 相似文献
14.
The map-based sequence of the rice genome 总被引:14,自引:0,他引:14
International Rice Genome Sequencing Project 《Nature》2005,436(7052):793-800
Rice, one of the world's most important food plants, has important syntenic relationships with the other cereal species and is a model plant for the grasses. Here we present a map-based, finished quality sequence that covers 95% of the 389 Mb genome, including virtually all of the euchromatin and two complete centromeres. A total of 37,544 non-transposable-element-related protein-coding genes were identified, of which 71% had a putative homologue in Arabidopsis. In a reciprocal analysis, 90% of the Arabidopsis proteins had a putative homologue in the predicted rice proteome. Twenty-nine per cent of the 37,544 predicted genes appear in clustered gene families. The number and classes of transposable elements found in the rice genome are consistent with the expansion of syntenic regions in the maize and sorghum genomes. We find evidence for widespread and recurrent gene transfer from the organelles to the nuclear chromosomes. The map-based sequence has proven useful for the identification of genes underlying agronomic traits. The additional single-nucleotide polymorphisms and simple sequence repeats identified in our study should accelerate improvements in rice production. 相似文献
15.
Humphray SJ Oliver K Hunt AR Plumb RW Loveland JE Howe KL Andrews TD Searle S Hunt SE Scott CE Jones MC Ainscough R Almeida JP Ambrose KD Ashwell RI Babbage AK Babbage S Bagguley CL Bailey J Banerjee R Barker DJ Barlow KF Bates K Beasley H Beasley O Bird CP Bray-Allen S Brown AJ Brown JY Burford D Burrill W Burton J Carder C Carter NP Chapman JC Chen Y Clarke G Clark SY Clee CM Clegg S Collier RE Corby N Crosier M Cummings AT Davies J Dhami P Dunn M Dutta I Dyer LW Earthrowl ME Faulkner L 《Nature》2004,429(6990):369-374
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. 相似文献
16.
Hillier LW Graves TA Fulton RS Fulton LA Pepin KH Minx P Wagner-McPherson C Layman D Wylie K Sekhon M Becker MC Fewell GA Delehaunty KD Miner TL Nash WE Kremitzki C Oddy L Du H Sun H Bradshaw-Cordum H Ali J Carter J Cordes M Harris A Isak A van Brunt A Nguyen C Du F Courtney L Kalicki J Ozersky P Abbott S Armstrong J Belter EA Caruso L Cedroni M Cotton M Davidson T Desai A Elliott G Erb T Fronick C Gaige T Haakenson W Haglund K Holmes A Harkins R Kim K Kruchowski SS Strong CM Grewal N Goyea E 《Nature》2005,434(7034):724-731
Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the search for the Huntington's disease gene, but also for genes associated with Wolf-Hirschhorn syndrome, polycystic kidney disease and a form of muscular dystrophy. Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. Our initial analyses have identified 1,346 protein-coding genes and 1,239 pseudogenes on chromosome 2, and 796 protein-coding genes and 778 pseudogenes on chromosome 4. Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions. 相似文献
17.
Comparison of human genetic and sequence-based physical maps 总被引:40,自引:0,他引:40
Yu A Zhao C Fan Y Jang W Mungall AJ Deloukas P Olsen A Doggett NA Ghebranious N Broman KW Weber JL 《Nature》2001,409(6822):951-953
Recombination is the exchange of information between two homologous chromosomes during meiosis. The rate of recombination per nucleotide, which profoundly affects the evolution of chromosomal segments, is calculated by comparing genetic and physical maps. Human physical maps have been constructed using cytogenetics, overlapping DNA clones and radiation hybrids; but the ultimate and by far the most accurate physical map is the actual nucleotide sequence. The completion of the draft human genomic sequence provides us with the best opportunity yet to compare the genetic and physical maps. Here we describe our estimates of female, male and sex-average recombination rates for about 60% of the genome. Recombination rates varied greatly along each chromosome, from 0 to at least 9 centiMorgans per megabase (cM Mb(-1)). Among several sequence and marker parameters tested, only relative marker position along the metacentric chromosomes in males correlated strongly with recombination rate. We identified several chromosomal regions up to 6 Mb in length with particularly low (deserts) or high (jungles) recombination rates. Linkage disequilibrium was much more common and extended for greater distances in the deserts than in the jungles. 相似文献
18.
Zody MC Garber M Sharpe T Young SK Rowen L O'Neill K Whittaker CA Kamal M Chang JL Cuomo CA Dewar K FitzGerald MG Kodira CD Madan A Qin S Yang X Abbasi N Abouelleil A Arachchi HM Baradarani L Birditt B Bloom S Bloom T Borowsky ML Burke J Butler J Cook A DeArellano K DeCaprio D Dorris L Dors M Eichler EE Engels R Fahey J Fleetwood P Friedman C Gearin G Hall JL Hensley G Johnson E Jones C Kamat A Kaur A Locke DP Madan A Munson G Jaffe DB Lui A Macdonald P Mauceli E Naylor JW Nesbitt R Nicol R 《Nature》2006,440(7084):671-675
Here we present a finished sequence of human chromosome 15, together with a high-quality gene catalogue. As chromosome 15 is one of seven human chromosomes with a high rate of segmental duplication, we have carried out a detailed analysis of the duplication structure of the chromosome. Segmental duplications in chromosome 15 are largely clustered in two regions, on proximal and distal 15q; the proximal region is notable because recombination among the segmental duplications can result in deletions causing Prader-Willi and Angelman syndromes. Sequence analysis shows that the proximal and distal regions of 15q share extensive ancient similarity. Using a simple approach, we have been able to reconstruct many of the events by which the current duplication structure arose. We find that most of the intrachromosomal duplications seem to share a common ancestry. Finally, we demonstrate that some remaining gaps in the genome sequence are probably due to structural polymorphisms between haplotypes; this may explain a significant fraction of the gaps remaining in the human genome. 相似文献
19.
Nusbaum C Mikkelsen TS Zody MC Asakawa S Taudien S Garber M Kodira CD Schueler MG Shimizu A Whittaker CA Chang JL Cuomo CA Dewar K FitzGerald MG Yang X Allen NR Anderson S Asakawa T Blechschmidt K Bloom T Borowsky ML Butler J Cook A Corum B DeArellano K DeCaprio D Dooley KT Dorris L Engels R Glöckner G Hafez N Hagopian DS Hall JL Ishikawa SK Jaffe DB Kamat A Kudoh J Lehmann R Lokitsang T Macdonald P Major JE Matthews CD Mauceli E Menzel U Mihalev AH Minoshima S Murayama Y Naylor JW Nicol R 《Nature》2006,439(7074):331-335
The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome. As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of approximately 15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection--these include the major defensin (DEF) gene cluster and MCPH1, a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution. 相似文献
20.
Arabidopsis Genome Initiative 《Nature》2000,408(6814):796-815
The flowering plant Arabidopsis thaliana is an important model system for identifying genes and determining their functions. Here we report the analysis of the genomic sequence of Arabidopsis. The sequenced regions cover 115.4 megabases of the 125-megabase genome and extend into centromeric regions. The evolution of Arabidopsis involved a whole-genome duplication, followed by subsequent gene loss and extensive local gene duplications, giving rise to a dynamic genome enriched by lateral gene transfer from a cyanobacterial-like ancestor of the plastid. The genome contains 25,498 genes encoding proteins from 11,000 families, similar to the functional diversity of Drosophila and Caenorhabditis elegans--the other sequenced multicellular eukaryotes. Arabidopsis has many families of new proteins but also lacks several common protein families, indicating that the sets of common proteins have undergone differential expansion and contraction in the three multicellular eukaryotes. This is the first complete genome sequence of a plant and provides the foundations for more comprehensive comparison of conserved processes in all eukaryotes, identifying a wide range of plant-specific gene functions and establishing rapid systematic ways to identify genes for crop improvement. 相似文献