共查询到20条相似文献,搜索用时 390 毫秒
1.
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
2.
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
3.
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
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.
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
6.
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
7.
Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype 总被引:2,自引:0,他引:2
Jaillon O Aury JM Brunet F Petit JL Stange-Thomann N Mauceli E Bouneau L Fischer C Ozouf-Costaz C Bernot A Nicaud S Jaffe D Fisher S Lutfalla G Dossat C Segurens B Dasilva C Salanoubat M Levy M Boudet N Castellano S Anthouard V Jubin C Castelli V Katinka M Vacherie B Biémont C Skalli Z Cattolico L Poulain J De Berardinis V Cruaud C Duprat S Brottier P Coutanceau JP Gouzy J Parra G Lardier G Chapple C McKernan KJ McEwan P Bosak S Kellis M Volff JN Guigó R Zody MC Mesirov J Lindblad-Toh K 《Nature》2004,431(7011):946-957
Tetraodon nigroviridis is a freshwater puffer fish with the smallest known vertebrate genome. Here, we report a draft genome sequence with long-range linkage and substantial anchoring to the 21 Tetraodon chromosomes. Genome analysis provides a greatly improved fish gene catalogue, including identifying key genes previously thought to be absent in fish. Comparison with other vertebrates and a urochordate indicates that fish proteins have diverged markedly faster than their mammalian homologues. Comparison with the human genome suggests approximately 900 previously unannotated human genes. Analysis of the Tetraodon and human genomes shows that whole-genome duplication occurred in the teleost fish lineage, subsequent to its divergence from mammals. The analysis also makes it possible to infer the basic structure of the ancestral bony vertebrate genome, which was composed of 12 chromosomes, and to reconstruct much of the evolutionary history of ancient and recent chromosome rearrangements leading to the modern human karyotype. 相似文献
8.
Carlton JM Angiuoli SV Suh BB Kooij TW Pertea M Silva JC Ermolaeva MD Allen JE Selengut JD Koo HL Peterson JD Pop M Kosack DS Shumway MF Bidwell SL Shallom SJ van Aken SE Riedmuller SB Feldblyum TV Cho JK Quackenbush J Sedegah M Shoaibi A Cummings LM Florens L Yates JR Raine JD Sinden RE Harris MA Cunningham DA Preiser PR Bergman LW Vaidya AB van Lin LH Janse CJ Waters AP Smith HO White OR Salzberg SL Venter JC Fraser CM Hoffman SL Gardner MJ Carucci DJ 《Nature》2002,419(6906):512-519
Species of malaria parasite that infect rodents have long been used as models for malaria disease research. Here we report the whole-genome shotgun sequence of one species, Plasmodium yoelii yoelii, and comparative studies with the genome of the human malaria parasite Plasmodium falciparum clone 3D7. A synteny map of 2,212 P. y. yoelii contiguous DNA sequences (contigs) aligned to 14 P. falciparum chromosomes reveals marked conservation of gene synteny within the body of each chromosome. Of about 5,300 P. falciparum genes, more than 3,300 P. y. yoelii orthologues of predominantly metabolic function were identified. Over 800 copies of a variant antigen gene located in subtelomeric regions were found. This is the first genome sequence of a model eukaryotic parasite, and it provides insight into the use of such systems in the modelling of Plasmodium biology and disease. 相似文献
9.
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
10.
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
11.
Kile BT Hentges KE Clark AT Nakamura H Salinger AP Liu B Box N Stockton DW Johnson RL Behringer RR Bradley A Justice MJ 《Nature》2003,425(6953):81-86
Now that the mouse and human genome sequences are complete, biologists need systematic approaches to determine the function of each gene. A powerful way to discover gene function is to determine the consequence of mutations in living organisms. Large-scale production of mouse mutations with the point mutagen N-ethyl-N-nitrosourea (ENU) is a key strategy for analysing the human genome because mouse mutants will reveal functions unique to mammals, and many may model human diseases. To examine genes conserved between human and mouse, we performed a recessive ENU mutagenesis screen that uses a balancer chromosome, inversion chromosome 11 (refs 4, 5). Initially identified in the fruitfly, balancer chromosomes are valuable genetic tools that allow the easy isolation of mutations on selected chromosomes. Here we show the isolation of 230 new recessive mouse mutations, 88 of which are on chromosome 11. This genetic strategy efficiently generates and maps mutations on a single chromosome, even as mutations throughout the genome are discovered. The mutations reveal new defects in haematopoiesis, craniofacial and cardiovascular development, and fertility. 相似文献
12.
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
13.
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
14.
Hyman RW Fung E Conway A Kurdi O Mao J Miranda M Nakao B Rowley D Tamaki T Wang F Davis RW 《Nature》2002,419(6906):534-537
The human malaria parasite Plasmodium falciparum is responsible for the death of more than a million people every year. To stimulate basic research on the disease, and to promote the development of effective drugs and vaccines against the parasite, the complete genome of P. falciparum clone 3D7 has been sequenced, using a chromosome-by-chromosome shotgun strategy. Here we report the nucleotide sequence of the third largest of the parasite's 14 chromosomes, chromosome 12, which comprises about 10% of the 23-megabase genome. As the most (A + T)-rich (80.6%) genome sequenced to date, the P. falciparum genome presented severe problems during the assembly of primary sequence reads. We discuss the methodology that yielded a finished and fully contiguous sequence for chromosome 12. The biological implications of the sequence data are more thoroughly discussed in an accompanying Article (ref. 3). 相似文献
15.
Cloning of human telomeres by complementation in yeast 总被引:36,自引:0,他引:36
Telomeres confer stability on chromosomes by protecting them from degradation and recombination and by allowing complete replication of the end. They are genetically important as they define the ends of the linkage map. Telomeres of lower eukaryotes contain short repeats consisting of a G-rich and a C-rich strand, the G-rich strand running 5'-3' towards the telomere and extending at the end. Telomeres of human chromosomes share characteristics with those of lower eukaryotes including sequence similarity as detected by cross-hybridization. Telomeric repeats from many organisms can provide telomere function in yeast. Here we describe a modified yeast artificial chromosome (YAC) vector with only one telomere which we used to clone human telomeres by complementation in yeast. YACs containing human telomeres were identified by hydridization to an oligonucleotide of the trypanosome telomeric repeat. A subcloned human fragment from one such YAC is immediately subtelomeric on at least one human chromosome. 相似文献
16.
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
17.
Sequence and analysis of chromosome 2 of the plant Arabidopsis thaliana 总被引:21,自引:0,他引:21
Lin X Kaul S Rounsley S Shea TP Benito MI Town CD Fujii CY Mason T Bowman CL Barnstead M Feldblyum TV Buell CR Ketchum KA Lee J Ronning CM Koo HL Moffat KS Cronin LA Shen M Pai G Van Aken S Umayam L Tallon LJ Gill JE Adams MD Carrera AJ Creasy TH Goodman HM Somerville CR Copenhaver GP Preuss D Nierman WC White O Eisen JA Salzberg SL Fraser CM Venter JC 《Nature》1999,402(6763):761-768
Arabidopsis thaliana (Arabidopsis) is unique among plant model organisms in having a small genome (130-140 Mb), excellent physical and genetic maps, and little repetitive DNA. Here we report the sequence of chromosome 2 from the Columbia ecotype in two gap-free assemblies (contigs) of 3.6 and 16 megabases (Mb). The latter represents the longest published stretch of uninterrupted DNA sequence assembled from any organism to date. Chromosome 2 represents 15% of the genome and encodes 4,037 genes, 49% of which have no predicted function. Roughly 250 tandem gene duplications were found in addition to large-scale duplications of about 0.5 and 4.5 Mb between chromosomes 2 and 1 and between chromosomes 2 and 4, respectively. Sequencing of nearly 2 Mb within the genetically defined centromere revealed a low density of recognizable genes, and a high density and diverse range of vestigial and presumably inactive mobile elements. More unexpected is what appears to be a recent insertion of a continuous stretch of 75% of the mitochondrial genome into chromosome 2. 相似文献
18.
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome 总被引:16,自引:0,他引:16
P Goodfellow G Banting D Sheer H H Ropers A Caine M A Ferguson-Smith S Povey R Voss 《Nature》1983,302(5906):346-349
The mammalian sex chromosomes are thought to be related to each other by sharing a common origin. That is, the X and Y chromosomes originally evolved from a pair of chromosomes that only differed at the locus determining sexual differentiation. For example, this evolutionary relationship is reflected during meiosis in chromosomal pairing between the tip of the human X chromosome short arm and the Y chromosome which presumably implies sequence homology. However, compelling genetic evidence for functional homology between the mammalian X and Y chromosome is lacking. We describe here the localization of a gene to the tip of the short arm of the human X chromosome and evidence for a related gene on the Y chromosome. 相似文献
19.
G Borsani R Tonlorenzi M C Simmler L Dandolo D Arnaud V Capra M Grompe A Pizzuti D Muzny C Lawrence 《Nature》1991,351(6324):325-329
In mammals, equal dosage of gene products encoded by the X chromosome in male and female cells is achieved by X inactivation. Although X-chromosome inactivation represents the most extensive example known of long range cis gene regulation, the mechanism by which thousands of genes on only one of a pair of identical chromosomes are turned off is poorly understood. We have recently identified a human gene (XIST) exclusively expressed from the inactive X chromosome. Here we report the isolation and characterization of its murine homologue (Xist) which localizes to the mouse X inactivation centre region and is the first murine gene found to be expressed from the inactive X chromosome. Nucleotide sequence analysis indicates that Xist may be associated with a protein product. The similar map positions and expression patterns for Xist in mouse and man suggest that this gene may have a role in X inactivation. 相似文献
20.
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