共查询到20条相似文献,搜索用时 296 毫秒
1.
Martin J Han C Gordon LA Terry A Prabhakar S She X Xie G Hellsten U Chan YM Altherr M Couronne O Aerts A Bajorek E Black S Blumer H Branscomb E Brown NC Bruno WJ Buckingham JM Callen DF Campbell CS Campbell ML Campbell EW Caoile C Challacombe JF Chasteen LA Chertkov O Chi HC Christensen M Clark LM Cohn JD Denys M Detter JC Dickson M Dimitrijevic-Bussod M Escobar J Fawcett JJ Flowers D Fotopulos D Glavina T Gomez M Gonzales E Goodstein D Goodwin LA Grady DL Grigoriev I Groza M Hammon N Hawkins T 《Nature》2004,432(7020):988-994
2.
Taylor TD Noguchi H Totoki Y Toyoda A Kuroki Y Dewar K Lloyd C Itoh T Takeda T Kim DW She X Barlow KF Bloom T Bruford E Chang JL Cuomo CA Eichler E FitzGerald MG Jaffe DB LaButti K Nicol R Park HS Seaman C Sougnez C Yang X Zimmer AR Zody MC Birren BW Nusbaum C Fujiyama A Hattori M Rogers J Lander ES Sakaki Y 《Nature》2006,440(7083):497-500
Chromosome 11, although average in size, is one of the most gene- and disease-rich chromosomes in the human genome. Initial gene annotation indicates an average gene density of 11.6 genes per megabase, including 1,524 protein-coding genes, some of which were identified using novel methods, and 765 pseudogenes. One-quarter of the protein-coding genes shows overlap with other genes. Of the 856 olfactory receptor genes in the human genome, more than 40% are located in 28 single- and multi-gene clusters along this chromosome. Out of the 171 disorders currently attributed to the chromosome, 86 remain for which the underlying molecular basis is not yet known, including several mendelian traits, cancer and susceptibility loci. The high-quality data presented here--nearly 134.5 million base pairs representing 99.8% coverage of the euchromatic sequence--provide scientists with a solid foundation for understanding the genetic basis of these disorders and other biological phenomena. 相似文献
3.
Hillier LW Fulton RS Fulton LA Graves TA Pepin KH Wagner-McPherson C Layman D Maas J Jaeger S Walker R Wylie K Sekhon M Becker MC O'Laughlin MD Schaller ME Fewell GA Delehaunty KD Miner TL Nash WE Cordes M Du H Sun H Edwards J Bradshaw-Cordum H Ali J Andrews S Isak A Vanbrunt A Nguyen C Du F Lamar B Courtney L Kalicki J Ozersky P Bielicki L Scott K Holmes A Harkins R Harris A Strong CM Hou S Tomlinson C Dauphin-Kohlberg S Kozlowicz-Reilly A Leonard S Rohlfing T Rock SM Tin-Wollam AM Abbott A 《Nature》2003,424(6945):157-164
4.
Heilig R Eckenberg R Petit JL Fonknechten N Da Silva C Cattolico L Levy M Barbe V de Berardinis V Ureta-Vidal A Pelletier E Vico V Anthouard V Rowen L Madan A Qin S Sun H Du H Pepin K Artiguenave F Robert C Cruaud C Brüls T Jaillon O Friedlander L Samson G Brottier P Cure S Ségurens B Anière F Samain S Crespeau H Abbasi N Aiach N Boscus D Dickhoff R Dors M Dubois I Friedman C Gouyvenoux M James R Madan A Mairey-Estrada B Mangenot S Martins N Ménard M Oztas S Ratcliffe A Shaffer T Trask B 《Nature》2003,421(6923):601-607
Chromosome 14 is one of five acrocentric chromosomes in the human genome. These chromosomes are characterized by a heterochromatic short arm that contains essentially ribosomal RNA genes, and a euchromatic long arm in which most, if not all, of the protein-coding genes are located. The finished sequence of human chromosome 14 comprises 87,410,661 base pairs, representing 100% of its euchromatic portion, in a single continuous segment covering the entire long arm with no gaps. Two loci of crucial importance for the immune system, as well as more than 60 disease genes, have been localized so far on chromosome 14. We identified 1,050 genes and gene fragments, and 393 pseudogenes. On the basis of comparisons with other vertebrate genomes, we estimate that more than 96% of the chromosome 14 genes have been annotated. From an analysis of the CpG island occurrences, we estimate that 70% of these annotated genes are complete at their 5' end. 相似文献
5.
Grimwood J Gordon LA Olsen A Terry A Schmutz J Lamerdin J Hellsten U Goodstein D Couronne O Tran-Gyamfi M Aerts A Altherr M Ashworth L Bajorek E Black S Branscomb E Caenepeel S Carrano A Caoile C Chan YM Christensen M Cleland CA Copeland A Dalin E Dehal P Denys M Detter JC Escobar J Flowers D Fotopulos D Garcia C Georgescu AM Glavina T Gomez M Gonzales E Groza M Hammon N Hawkins T Haydu L Ho I Huang W Israni S Jett J Kadner K Kimball H Kobayashi A Larionov V Leem SH Lopez F Lou Y Lowry S 《Nature》2004,428(6982):529-535
Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in mendelian disorders, including familial hypercholesterolaemia and insulin-resistant diabetes. Nearly one-quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu. 相似文献
6.
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
7.
Mungall AJ Palmer SA Sims SK Edwards CA Ashurst JL Wilming L Jones MC Horton R Hunt SE Scott CE Gilbert JG Clamp ME Bethel G Milne S Ainscough R Almeida JP Ambrose KD Andrews TD Ashwell RI Babbage AK Bagguley CL Bailey J Banerjee R Barker DJ Barlow KF Bates K Beare DM Beasley H Beasley O Bird CP Blakey S Bray-Allen S Brook J Brown AJ Brown JY Burford DC Burrill W Burton J Carder C Carter NP Chapman JC Clark SY Clark G Clee CM Clegg S Cobley V Collier RE Collins JE Colman LK Corby NR Coville GJ 《Nature》2003,425(6960):805-811
8.
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
9.
The DNA sequence and comparative analysis of human chromosome 5 总被引:1,自引:0,他引:1
Schmutz J Martin J Terry A Couronne O Grimwood J Lowry S Gordon LA Scott D Xie G Huang W Hellsten U Tran-Gyamfi M She X Prabhakar S Aerts A Altherr M Bajorek E Black S Branscomb E Caoile C Challacombe JF Chan YM Denys M Detter JC Escobar J Flowers D Fotopulos D Glavina T Gomez M Gonzales E Goodstein D Grigoriev I Groza M Hammon N Hawkins T Haydu L Israni S Jett J Kadner K Kimball H Kobayashi A Lopez F Lou Y Martinez D Medina C Morgan J Nandkeshwar R Noonan JP Pitluck S Pollard M Predki P 《Nature》2004,431(7006):268-274
Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy. 相似文献
10.
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
11.
S Bowman D Lawson D Basham D Brown T Chillingworth C M Churcher A Craig R M Davies K Devlin T Feltwell S Gentles R Gwilliam N Hamlin D Harris S Holroyd T Hornsby P Horrocks K Jagels B Jassal S Kyes J McLean S Moule K Mungall L Murphy K Oliver M A Quail M A Rajandream S Rutter J Skelton R Squares S Squares J E Sulston S Whitehead J R Woodward C Newbold B G Barrell 《Nature》1999,400(6744):532-538
Analysis of Plasmodium falciparum chromosome 3, and comparison with chromosome 2, highlights novel features of chromosome organization and gene structure. The sub-telomeric regions of chromosome 3 show a conserved order of features, including repetitive DNA sequences, members of multigene families involved in pathogenesis and antigenic variation, a number of conserved pseudogenes, and several genes of unknown function. A putative centromere has been identified that has a core region of about 2 kilobases with an extremely high (adenine + thymidine) composition and arrays of tandem repeats. We have predicted 215 protein-coding genes and two transfer RNA genes in the 1,060,106-base-pair chromosome sequence. The predicted protein-coding genes can be divided into three main classes: 52.6% are not spliced, 45.1% have a large exon with short additional 5' or 3' exons, and 2.3% have a multiple exon structure more typical of higher eukaryotes. 相似文献
12.
Nusbaum C Zody MC Borowsky ML Kamal M Kodira CD Taylor TD Whittaker CA Chang JL Cuomo CA Dewar K FitzGerald MG Yang X Abouelleil A Allen NR Anderson S Bloom T Bugalter B Butler J Cook A DeCaprio D Engels R Garber M Gnirke A Hafez N Hall JL Norman CH Itoh T Jaffe DB Kuroki Y Lehoczky J Lui A Macdonald P Mauceli E Mikkelsen TS Naylor JW Nicol R Nguyen C Noguchi H O'Leary SB O'Neill K Piqani B Smith CL Talamas JA Topham K Totoki Y Toyoda A Wain HM Young SK Zeng Q Zimmer AR Fujiyama A Hattori M 《Nature》2005,437(7058):551-555
Chromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements. 相似文献
13.
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
14.
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes 总被引:2,自引:0,他引:2
Skaletsky H Kuroda-Kawaguchi T Minx PJ Cordum HS Hillier L Brown LG Repping S Pyntikova T Ali J Bieri T Chinwalla A Delehaunty A Delehaunty K Du H Fewell G Fulton L Fulton R Graves T Hou SF Latrielle P Leonard S Mardis E Maupin R McPherson J Miner T Nash W Nguyen C Ozersky P Pepin K Rock S Rohlfing T Scott K Schultz B Strong C Tin-Wollam A Yang SP Waterston RH Wilson RK Rozen S Page DC 《Nature》2003,423(6942):825-837
15.
DNA sequence of both chromosomes of the cholera pathogen Vibrio cholerae 总被引:23,自引:0,他引:23
Heidelberg JF Eisen JA Nelson WC Clayton RA Gwinn ML Dodson RJ Haft DH Hickey EK Peterson JD Umayam L Gill SR Nelson KE Read TD Tettelin H Richardson D Ermolaeva MD Vamathevan J Bass S Qin H Dragoi I Sellers P McDonald L Utterback T Fleishmann RD Nierman WC White O Salzberg SL Smith HO Colwell RR Mekalanos JJ Venter JC Fraser CM 《Nature》2000,406(6795):477-483
16.
Hattori M Fujiyama A Taylor TD Watanabe H Yada T Park HS Toyoda A Ishii K Totoki Y Choi DK Groner Y Soeda E Ohki M Takagi T Sakaki Y Taudien S Blechschmidt K Polley A Menzel U Delabar J Kumpf K Lehmann R Patterson D Reichwald K Rump A Schillhabel M Schudy A Zimmermann W Rosenthal A Kudoh J Schibuya K Kawasaki K Asakawa S Shintani A Sasaki T Nagamine K Mitsuyama S Antonarakis SE Minoshima S Shimizu N Nordsiek G Hornischer K Brant P Scharfe M Schon O Desario A Reichelt J Kauer G Blocker H 《Nature》2000,405(6784):311-319
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. Several anonymous loci for monogenic disorders and predispositions for common complex disorders have also been mapped to this chromosome, and loss of heterozygosity has been observed in regions associated with solid tumours. Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) of DNA with very high accuracy, the largest contig being 25,491,867 bp. Only three small clone gaps and seven sequencing gaps remain, comprising about 100 kilobases. Thus, we achieved 99.7% coverage of 21q. We also sequenced 281,116 bp from the short arm. The structural features identified include duplications that are probably involved in chromosomal abnormalities and repeat structures in the telomeric and pericentromeric regions. Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes. 相似文献
17.
Biological diversity is driven mainly by gene duplication followed by mutation and selection. This divergence in either regulatory or protein-coding sequences can result in quite different biological functions for even closely related genes. This concept is exemplified by the mammalian Hox gene complex, a group of 39 genes which are located on 4 linkage groups, dispersed on 4 chromosomes. The evolution of this complex began with amplification in cis of a primordial Hox gene to produce 13 members, followed by duplications in trans of much of the entire unit. As a consequence, Hox genes that occupy the same relative position along the 5' to 3' chromosomal coordinate (trans-paralogous genes) share more similarity in sequence and expression pattern than do adjacent Hox genes on the same chromosome. Studies in mice indicate that although individual family members may have unique biological roles, they also share overlapping functions with their paralogues. Here we show that the proteins encoded by the paralogous genes, Hoxa3 and Hoxd3, can carry out identical biological functions, and that the different roles attributed to these genes are the result of quantitative modulations in gene expression. 相似文献
18.
Mikkelsen TS Wakefield MJ Aken B Amemiya CT Chang JL Duke S Garber M Gentles AJ Goodstadt L Heger A Jurka J Kamal M Mauceli E Searle SM Sharpe T Baker ML Batzer MA Benos PV Belov K Clamp M Cook A Cuff J Das R Davidow L Deakin JE Fazzari MJ Glass JL Grabherr M Greally JM Gu W Hore TA Huttley GA Kleber M Jirtle RL Koina E Lee JT Mahony S Marra MA Miller RD Nicholls RD Oda M Papenfuss AT Parra ZE Pollock DD Ray DA Schein JE Speed TP Thompson K VandeBerg JL Wade CM Walker JA Waters PD Webber C 《Nature》2007,447(7141):167-177
We report a high-quality draft of the genome sequence of the grey, short-tailed opossum (Monodelphis domestica). As the first metatherian ('marsupial') species to be sequenced, the opossum provides a unique perspective on the organization and evolution of mammalian genomes. Distinctive features of the opossum chromosomes provide support for recent theories about genome evolution and function, including a strong influence of biased gene conversion on nucleotide sequence composition, and a relationship between chromosomal characteristics and X chromosome inactivation. Comparison of opossum and eutherian genomes also reveals a sharp difference in evolutionary innovation between protein-coding and non-coding functional elements. True innovation in protein-coding genes seems to be relatively rare, with lineage-specific differences being largely due to diversification and rapid turnover in gene families involved in environmental interactions. In contrast, about 20% of eutherian conserved non-coding elements (CNEs) are recent inventions that postdate the divergence of Eutheria and Metatheria. A substantial proportion of these eutherian-specific CNEs arose from sequence inserted by transposable elements, pointing to transposons as a major creative force in the evolution of mammalian gene regulation. 相似文献
19.
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
20.
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