共查询到20条相似文献,搜索用时 15 毫秒
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"Computer genome" is full of junk DNA 总被引:1,自引:0,他引:1
R Lewin 《Science (New York, N.Y.)》1986,232(4750):577-578
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Persistence of the entire Epstein-Barr virus genome integrated into human lymphocyte DNA 总被引:46,自引:0,他引:46
The entire Epstein-Barr virus genome is integrated into Burkitt tumor cell DNA at the terminal direct repeat sequence of the virus. There is no homology between the GC-rich (G, guanine; C, cytosine) terminal repeat and the AT-rich (A, adenine; T, thymine) cell sequences with which it has recombined. More than 15 kilobases of cell DNA have been deleted and 236 base pairs are duplicated at one virus-cell junction site. 相似文献
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Complementary DNA sequencing: expressed sequence tags and human genome project 总被引:227,自引:0,他引:227
M D Adams J M Kelley J D Gocayne M Dubnick M H Polymeropoulos H Xiao C R Merril A Wu B Olde R F Moreno 《Science (New York, N.Y.)》1991,252(5013):1651-1656
Automated partial DNA sequencing was conducted on more than 600 randomly selected human brain complementary DNA (cDNA) clones to generate expressed sequence tags (ESTs). ESTs have applications in the discovery of new human genes, mapping of the human genome, and identification of coding regions in genomic sequences. Of the sequences generated, 337 represent new genes, including 48 with significant similarity to genes from other organisms, such as a yeast RNA polymerase II subunit; Drosophila kinesin, Notch, and Enhancer of split; and a murine tyrosine kinase receptor. Forty-six ESTs were mapped to chromosomes after amplification by the polymerase chain reaction. This fast approach to cDNA characterization will facilitate the tagging of most human genes in a few years at a fraction of the cost of complete genomic sequencing, provide new genetic markers, and serve as a resource in diverse biological research fields. 相似文献
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Bailey JA Gu Z Clark RA Reinert K Samonte RV Schwartz S Adams MD Myers EW Li PW Eichler EE 《Science (New York, N.Y.)》2002,297(5583):1003-1007
Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun sequence. This test has the ability to detect duplications larger than 15 kilobases irrespective of copy number, location, or high sequence similarity. We mapped 169 large regions flanked by highly similar duplications. Twenty-four of these hot spots of genomic instability have been associated with genetic disease. Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity. 相似文献
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Cis-acting regulatory variation in the human genome 总被引:1,自引:0,他引:1
The systematic screening of the human genome for genetic variants that affect gene regulation should advance our fundamental understanding of phenotypic diversity and lead to the identification of alleles that modify disease risk. There are several challenges in localizing regulatory polymorphisms, including the wide spectrum of cis-acting regulatory mechanisms, the inconsistent effects of regulatory variants in different tissues, and the difficulty in isolating the causal variants that are in linkage disequilibrium with many other variants. We discuss the current state of knowledge and technologies used for mapping and characterizing genetic variation controlling human gene expression. 相似文献
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The sequence of the human genome 总被引:8,自引:0,他引:8
Venter JC Adams MD Myers EW Li PW Mural RJ Sutton GG Smith HO Yandell M Evans CA Holt RA Gocayne JD Amanatides P Ballew RM Huson DH Wortman JR Zhang Q Kodira CD Zheng XH Chen L Skupski M Subramanian G Thomas PD Zhang J Gabor Miklos GL Nelson C Broder S Clark AG Nadeau J McKusick VA Zinder N Levine AJ Roberts RJ Simon M Slayman C Hunkapiller M Bolanos R Delcher A Dew I Fasulo D Flanigan M Florea L Halpern A Hannenhalli S Kravitz S Levy S Mobarry C Reinert K Remington K Abu-Threideh J Beasley E 《Science (New York, N.Y.)》2001,291(5507):1304-1351
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Large-scale copy number polymorphism in the human genome 总被引:1,自引:0,他引:1
Sebat J Lakshmi B Troge J Alexander J Young J Lundin P Månér S Massa H Walker M Chi M Navin N Lucito R Healy J Hicks J Ye K Reiner A Gilliam TC Trask B Patterson N Zetterberg A Wigler M 《Science (New York, N.Y.)》2004,305(5683):525-528
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length of a CNP interval was 465 kilobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease. 相似文献
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Venkatesh B Kirkness EF Loh YH Halpern AL Lee AP Johnson J Dandona N Viswanathan LD Tay A Venter JC Strausberg RL Brenner S 《Science (New York, N.Y.)》2006,314(5807):1892
Cartilaginous fishes represent the living group of jawed vertebrates that diverged from the common ancestor of human and teleost fish lineages about 530 million years ago. We generated approximately 1.4x genome sequence coverage for a cartilaginous fish, the elephant shark (Callorhinchus milii), and compared this genome with the human genome to identify conserved noncoding elements (CNEs). The elephant shark sequence revealed twice as many CNEs as were identified by whole-genome comparisons between teleost fishes and human. The ancient vertebrate-specific CNEs in the elephant shark and human genomes are likely to play key regulatory roles in vertebrate gene expression. 相似文献
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Quintana-Murci L 《Science (New York, N.Y.)》2012,335(6070):806-807
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Putting the human genome on the map 总被引:3,自引:0,他引:3
J L Marx 《Science (New York, N.Y.)》1985,229(4709):150-151
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Venter JC 《Science (New York, N.Y.)》2003,299(5610):1183-1184