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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Gregory SG Barlow KF McLay KE Kaul R Swarbreck D Dunham A Scott CE Howe KL Woodfine K Spencer CC Jones MC Gillson C Searle S Zhou Y Kokocinski F McDonald L Evans R Phillips K Atkinson A Cooper R Jones C Hall RE Andrews TD Lloyd C Ainscough R Almeida JP Ambrose KD Anderson F Andrew RW Ashwell RI Aubin K Babbage AK Bagguley CL Bailey J Beasley H Bethel G Bird CP Bray-Allen S Brown JY Brown AJ Buckley D Burton J Bye J Carder C Chapman JC Clark SY Clarke G Clee C Cobley V Collier RE Corby N 《Nature》2006,441(7091):315-321
The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome. 相似文献
9.
Human genes for U2 small nuclear RNA map to a major adenovirus 12 modification site on chromosome 17 总被引:1,自引:0,他引:1
U2 RNA is one of the abundant, highly conserved species of small nuclear RNA (snRNA) molecules implicated in RNA processing. As is typical of mammalian snRNAs, human U1 and U2 are each encoded by a multigene family. In the human genome, defective copies of the genes (pseudogenes) far outnumber the authentic genes. The majority or all of the 35 to 100 bona fide U1 genes have at least 20 kilobases (kb) of nearly perfect 5' and 3' flanking homology in common with each other; these U1 genes are clustered loosely in chromosome band 1p36 (refs 5, 7) with intergenic distances exceeding 44 kb. In contrast, the 10 to 20 U2 genes are clustered tightly in a virtually perfect tandem array which has a strict 6-kb repeating unit. We report here the assignment, by in situ hybridization, of the U2 gene cluster to chromosome 17, bands q21-q22. Surprisingly, this region is one of three major adenovirus 12 modification sites which undergo chromosome decondensation ('uncoiling') in permissive human cells infected by highly oncogenic strains of adenovirus. The two other major modification sites, 1p36 and 1q21, coincide with the locations of U1 genes and class I U1 pseudogenes, respectively. We suggest that snRNA genes are the major targets of viral chromosome modification. 相似文献
10.
11.
The metallothioneins (MTs) are a family of proteins of low relative molecular mass which bind heavy-metal ions. MTs exist in several molecular forms (MT-I, MT-II) and are encoded by a multi-gene family containing at least 14 closely related genes and pseudogenes. These proteins function in the regulation of trace-metal metabolism, the storage of these ions in the liver, and as a protective mechanism against heavy-metal toxicity. Somatic cell hybridization has shown that most MT genes, including the functional MT genes (MT1A, MT1B, MT2A), lie on human chromosome 16. Using in situ hybridization, we have now localized the MT genes to band q22 of chromosome 16. This chromosomal band is also a breakpoint in two specific rearrangements, the inv(16)(p13q22) and t(16; 16)(p13;q22) rearrangements, found in a subgroup of patients with acute myelomonocytic leukaemia (AMML). Hybridization of a MT probe to malignant cells from two patients with an inv(16) showed labelled sites on both arms of the inverted chromosome, indicating that the breakpoint at 16q22 splits the MT gene cluster. Similar results were obtained when this probe was hybridized to metaphase cells from two patients with a t(16; 16). These results suggest that the MT genes or their regulatory regions may function as an 'activating' sequence for an as yet unidentified cellular gene located at 16p13. 相似文献
12.
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
13.
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
14.
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
15.
Sequence organization and genomic complexity of primate theta 1 globin gene, a novel alpha-globin-like gene 总被引:12,自引:0,他引:12
The alpha-like and beta-like globin genes have provided a paradigm for the study of molecular evolution and regulation of multigene families in eukaryotes. The human alpha-globin gene cluster, which is on chromosome 16 (ref. 1), consists of six genes arranged in the order 5'-zeta(embryonic)-psi zeta-psi alpha 2-psi alpha 1-alpha 2(adult)-alpha 1(adult)-3'. DNA sequencing data have demonstrated that zeta (ref. 6) and alpha 2 (or alpha 1, refs 7-9) are the embryonic and adult genes, respectively, while psi zeta (ref. 6), psi alpha 2 (ref. 5) psi alpha 1 (ref. 10) are all inactive pseudogenes. Restriction mapping analysis has shown that the structure of this locus in several anthropoid primates is nearly identical to that of the human. Recently, we have isolated the adult alpha-globin gene region from orang-utan, olive baboon and rhesus macaque by molecular cloning. We report here the complete nucleotide sequence of a gene located immediately downstream from the adult alpha 1-globin gene of the orang-utan, along with its flanking DNA. We designate this gene as theta 1, and show that it contains the essential sequence elements required for an expressive gene. The putative polypeptide is 141 amino acids long, identical to that of the alpha- or zeta-globin, but its predicted amino-acid sequence is nearly as different from the orang-utan alpha-globin (55 differences) as the human zeta-globin is from the human alpha-globin (59 differences), suggesting an ancient history for the theta 1-globin gene. Results of blot hybridization experiments using the cloned orang-utan theta 1 gene sequence as probe demonstrate a similar alpha 2-alpha 1-theta 1 linkage map existing in the human genome. Furthermore, multiple copies of sequences homologous to the theta 1 gene are detected in both human and orang-utan. These results cast a new light on the primate alpha-globin gene family, and have intriguing implications for the existence of previously unreported, functional globin-like gene(s) in the primate genomes. 相似文献
16.
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
17.
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
18.
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
19.
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
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