Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 9 August 2002:
Vol. 297. no. 5583, pp. 1003 - 1007
DOI: 10.1126/science.1072047
Prev | Table of Contents | Next

Reports

Recent Segmental Duplications in the Human Genome

Jeffrey A. Bailey,1 Zhiping Gu,2 Royden A. Clark,1 Knut Reinert,2 Rhea V. Samonte,1 Stuart Schwartz,1 Mark D. Adams,2 Eugene W. Myers,2 Peter W. Li,2 Evan E. Eichler1*

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.

1 Department of Genetics, Center for Computational Genomics, and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA.
2 Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA.
*   To whom correspondence should be addressed. E-mail: eee{at}cwru.edu

Read the Full Text


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.
K. N. Leung, R. O. Vallero, A. J. DuBose, J. L. Resnick, and J. M. LaSalle (2009)
Hum. Mol. Genet. 18, 4227-4238
   Abstract »    Full Text »    PDF »
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.
H. C. Mefford, G. M. Cooper, T. Zerr, J. D. Smith, C. Baker, N. Shafer, E. C. Thorland, C. Skinner, C. E. Schwartz, D. A. Nickerson, et al. (2009)
Genome Res. 19, 1579-1585
   Abstract »    Full Text »    PDF »
Distinguishing Among Evolutionary Models for the Maintenance of Gene Duplicates.
M. W. Hahn (2009)
J. Hered. 100, 605-617
   Abstract »    Full Text »    PDF »
Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
M. K. Rudd, J. Keene, B. Bunke, E. B. Kaminsky, M. P. Adam, J. G. Mulle, D. H. Ledbetter, and C. L. Martin (2009)
Hum. Mol. Genet. 18, 2957-2962
   Abstract »    Full Text »    PDF »
Sexy gene conversions: locating gene conversions on the X-chromosome.
M. J. Lawson and L. Zhang (2009)
Nucleic Acids Res. 37, 4570-4579
   Abstract »    Full Text »    PDF »
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
B W M van Bon, H C Mefford, B Menten, D A Koolen, A J Sharp, W M Nillesen, J W Innis, T J L de Ravel, C L Mercer, M Fichera, et al. (2009)
J. Med. Genet. 46, 511-523
   Abstract »    Full Text »    PDF »
New Insights into Centromere Organization and Evolution from the White-Cheeked Gibbon and Marmoset.
A. Cellamare, C.R. Catacchio, C. Alkan, G. Giannuzzi, F. Antonacci, M.F. Cardone, G. Della Valle, M. Malig, M. Rocchi, E.E. Eichler, et al. (2009)
Mol. Biol. Evol. 26, 1889-1900
   Abstract »    Full Text »    PDF »
Characterization of six human disease-associated inversion polymorphisms.
F. Antonacci, J. M. Kidd, T. Marques-Bonet, M. Ventura, P. Siswara, Z. Jiang, and E. E. Eichler (2009)
Hum. Mol. Genet. 18, 2555-2566
   Abstract »    Full Text »    PDF »
Aneuploidy: From a Physiological Mechanism of Variance to Down Syndrome.
M. Dierssen, Y. Herault, and X. Estivill (2009)
Physiol Rev 89, 887-920
   Abstract »    Full Text »    PDF »
Segmental Duplications Contribute to Gene Expression Differences Between Humans and Chimpanzees.
R. Blekhman, A. Oshlack, and Y. Gilad (2009)
Genetics 182, 627-630
   Abstract »    Full Text »    PDF »
Adaptive evolution of young gene duplicates in mammals.
M. V. Han, J. P. Demuth, C. L. McGrath, C. Casola, and M. W. Hahn (2009)
Genome Res. 19, 859-867
   Abstract »    Full Text »    PDF »
The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution.
The Bovine Genome Sequencing and Analysis Consorti, C. G. Elsik, R. L. Tellam, and K. C. Worley (2009)
Science 324, 522-528
   Abstract »    Full Text »    PDF »
Copy number variants, diseases and gene expression.
C. N. Henrichsen, E. Chaignat, and A. Reymond (2009)
Hum. Mol. Genet. 18, R1-R8
   Abstract »    Full Text »    PDF »
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
F D Hannes, A J Sharp, H C Mefford, T de Ravel, C A Ruivenkamp, M H Breuning, J-P Fryns, K Devriendt, G Van Buggenhout, A Vogels, et al. (2009)
J. Med. Genet. 46, 223-232
   Abstract »    Full Text »    PDF »
The genomic architecture of segmental duplications and associated copy number variants in dogs.
T. J. Nicholas, Z. Cheng, M. Ventura, K. Mealey, E. E. Eichler, and J. M. Akey (2009)
Genome Res. 19, 491-499
   Abstract »    Full Text »    PDF »
Molecular Spectrum of Spontaneous de Novo Mutations in Male and Female Germline Cells of Drosophila melanogaster.
Y. Watanabe, A. Takahashi, M. Itoh, and T. Takano-Shimizu (2009)
Genetics 181, 1035-1043
   Abstract »    Full Text »    PDF »
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites.
S. Girirajan, L. Chen, T. Graves, T. Marques-Bonet, M. Ventura, C. Fronick, L. Fulton, M. Rocchi, R. S. Fulton, R. K. Wilson, et al. (2009)
Genome Res. 19, 178-190
   Abstract »    Full Text »    PDF »
Comparative Genomics and Molecular Dynamics of DNA Repeats in Eukaryotes.
G.-F. Richard, A. Kerrest, and B. Dujon (2008)
Microbiol. Mol. Biol. Rev. 72, 686-727
   Abstract »    Full Text »    PDF »
Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history.
P. M. Kim, H. Y.K. Lam, A. E. Urban, J. O. Korbel, J. Affourtit, F. Grubert, X. Chen, S. Weissman, M. Snyder, and M. B. Gerstein (2008)
Genome Res. 18, 1865-1874
   Abstract »    Full Text »    PDF »
Reduced purifying selection prevails over positive selection in human copy number variant evolution.
D.-Q. Nguyen, C. Webber, J. Hehir-Kwa, R. Pfundt, J. Veltman, and C. P. Ponting (2008)
Genome Res. 18, 1711-1723
   Abstract »    Full Text »    PDF »
Copy number variation and evolution in humans and chimpanzees.
G. H. Perry, F. Yang, T. Marques-Bonet, C. Murphy, T. Fitzgerald, A. S. Lee, C. Hyland, A. C. Stone, M. E. Hurles, C. Tyler-Smith, et al. (2008)
Genome Res. 18, 1698-1710
   Abstract »    Full Text »    PDF »
Analysis of segmental duplications via duplication distance.
C. L. Kahn and B. J. Raphael (2008)
Bioinformatics 24, i133-i138
   Abstract »    Full Text »    PDF »
DupMasker: A tool for annotating primate segmental duplications.
Z. Jiang, R. Hubley, A. Smit, and E. E. Eichler (2008)
Genome Res. 18, 1362-1368
   Abstract »    Full Text »    PDF »
CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus.
M Mamtani, B Rovin, R Brey, J F Camargo, H Kulkarni, M Herrera, P Correa, S Holliday, J-M Anaya, and S K Ahuja (2008)
Ann Rheum Dis 67, 1076-1083
   Abstract »    Full Text »    PDF »
Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions.
S. Kirsch, C. Munch, Z. Jiang, Z. Cheng, L. Chen, C. Batz, E. E. Eichler, and W. Schempp (2008)
Genome Res. 18, 1030-1042
   Abstract »    Full Text »    PDF »
Retrotransposition as a Source of New Promoters.
K. Okamura and K. Nakai (2008)
Mol. Biol. Evol. 25, 1231-1238
   Abstract »    Full Text »    PDF »
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.
I. Cusco, R. Corominas, M. Bayes, R. Flores, N. Rivera-Brugues, V. Campuzano, and L. A. Perez-Jurado (2008)
Genome Res. 18, 683-694
   Abstract »    Full Text »    PDF »
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies.
A. S. Lee, M. Gutierrez-Arcelus, G. H. Perry, E. J. Vallender, W. E. Johnson, G. M. Miller, J. O. Korbel, and C. Lee (2008)
Hum. Mol. Genet. 17, 1127-1136
   Abstract »    Full Text »    PDF »
The Primate-specific Protein TBC1D3 Is Required for Optimal Macropinocytosis in a Novel ARF6-dependent Pathway.
E. Frittoli, A. Palamidessi, A. Pizzigoni, L. Lanzetti, M. Garre, F. Troglio, A. Troilo, M. Fukuda, P. P. Di Fiore, G. Scita, et al. (2008)
Mol. Biol. Cell 19, 1304-1316
   Abstract »    Full Text »    PDF »
Lgals6, a 2-Million-Year-Old Gene in Mice: A Case of Positive Darwinian Selection and Presence/Absence Polymorphism.
D. Houzelstein, I. R. Goncalves, A. Orth, F. Bonhomme, and P. Netter (2008)
Genetics 178, 1533-1545
   Abstract »    Full Text »    PDF »
A Hot Spot of Genetic Instability in Autism.
E. E. Eichler and A. W. Zimmerman (2008)
N. Engl. J. Med. 358, 737-739
   Full Text »    PDF »
Analysis of Nuclear Receptor Pseudogenes in Vertebrates: How the Silent Tell Their Stories.
Z. D. Zhang, P. Cayting, G. Weinstock, and M. Gerstein (2008)
Mol. Biol. Evol. 25, 131-143
   Abstract »    Full Text »    PDF »
Positive selection at the protein network periphery: Evaluation in terms of structural constraints and cellular context.
P. M. Kim, J. O. Korbel, and M. B. Gerstein (2007)
PNAS 104, 20274-20279
   Abstract »    Full Text »    PDF »
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
N. Bosch, M. Caceres, M. F. Cardone, A. Carreras, E. Ballana, M. Rocchi, L. Armengol, and X. Estivill (2007)
Hum. Mol. Genet. 16, 2572-2582
   Abstract »    Full Text »    PDF »
Accelerated Rate of Gene Gain and Loss in Primates.
M. W. Hahn, J. P. Demuth, and S.-G. Han (2007)
Genetics 177, 1941-1949
   Abstract »    Full Text »    PDF »
A periodic pattern of SNPs in the human genome.
B. E. Madsen, P. Villesen, and C. Wiuf (2007)
Genome Res. 17, 1414-1419
   Abstract »    Full Text »    PDF »
A model of segmental duplication formation in Drosophila melanogaster.
A.-S. Fiston-Lavier, D. Anxolabehere, and H. Quesneville (2007)
Genome Res. 17, 1458-1470
   Abstract »    Full Text »    PDF »
The Neutral Coalescent Process for Recent Gene Duplications and Copy-Number Variants.
K. R. Thornton (2007)
Genetics 177, 987-1000
   Abstract »    Full Text »    PDF »
Gene copy number variation spanning 60 million years of human and primate evolution.
L. Dumas, Y. H. Kim, A. Karimpour-Fard, M. Cox, J. Hopkins, J. R. Pollack, and J. M. Sikela (2007)
Genome Res. 17, 1266-1277
   Abstract »    Full Text »    PDF »
Evolution of the vertebrate twist family and synfunctionalization: a mechanism for differential gene loss through merging of expression domains.
I. Gitelman (2007)
Mol. Biol. Evol. 24, 1912-1925
   Abstract »    Full Text »    PDF »
Evolutionary dynamics of transposable elements in the short-tailed opossum Monodelphis domestica.
A. J. Gentles, M. J. Wakefield, O. Kohany, W. Gu, M. A. Batzer, D. D. Pollock, and J. Jurka (2007)
Genome Res. 17, 992-1004
   Abstract »    Full Text »    PDF »
Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.
J. O. Korbel, A. E. Urban, F. Grubert, J. Du, T. E. Royce, P. Starr, G. Zhong, B. S. Emanuel, S. M. Weissman, M. Snyder, et al. (2007)
PNAS 104, 10110-10115
   Abstract »    Full Text »    PDF »
Evolvability of physiological and biochemical traits: evolutionary mechanisms including and beyond single-nucleotide mutation.
M. E. Feder (2007)
J. Exp. Biol. 210, 1653-1660
   Abstract »    Full Text »    PDF »
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome.
Rhesus Macaque Genome Sequencing and Analysis Cons, R. A. Gibbs, J. Rogers, M. G. Katze, R. Bumgarner, G. M. Weinstock, E. R. Mardis, K. A. Remington, R. L. Strausberg, J. C. Venter, et al. (2007)
Science 316, 222-234
   Abstract »    Full Text »    PDF »
AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
M. Babcock, S. Yatsenko, P. Stankiewicz, J. R. Lupski, and B. E. Morrow (2007)
Genome Res. 17, 451-460
   Abstract »    Full Text »    PDF »
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.
M. A. Jobling, I. C. C. Lo, D. J. Turner, G. R. Bowden, A. C. Lee, Y. Xue, D. Carvalho-Silva, M. E. Hurles, S. M. Adams, Y. M. Chang, et al. (2007)
Hum. Mol. Genet. 16, 307-316
   Abstract »    Full Text »    PDF »
Testing Chromosomal Phylogenies and Inversion Breakpoint Reuse in Drosophila.
J. Gonzalez, F. Casals, and A. Ruiz (2007)
Genetics 175, 167-177
   Abstract »    Full Text »    PDF »
Nearly Identical Paralogs: Implications for Maize (Zea mays L.) Genome Evolution.
S. J. Emrich, L. Li, T.-J. Wen, M. D. Yandeau-Nelson, Y. Fu, L. Guo, H.-H. Chou, S. Aluru, D. A. Ashlock, and P. S. Schnable (2007)
Genetics 175, 429-439
   Abstract »    Full Text »    PDF »
Ancestral genomes reconstruction: An integrated, multi-disciplinary approach is needed.
M. Rocchi, N. Archidiacono, and R. Stanyon (2006)
Genome Res. 16, 1441-1444
   Full Text »    PDF »
Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21.
C. Grunau, J. Buard, M.-E. Brun, and A. De Sario (2006)
Genome Res. 16, 1198-1207
   Abstract »    Full Text »    PDF »
STAC: A method for testing the significance of DNA copy number aberrations across multiple array-CGH experiments.
S. J. Diskin, T. Eck, J. Greshock, Y. P. Mosse, T. Naylor, C. J. Stoeckert Jr., B. L. Weber, J. M. Maris, and G. R. Grant (2006)
Genome Res. 16, 1149-1158
   Abstract »    Full Text »    PDF »
An initial map of insertion and deletion (INDEL) variation in the human genome.
R. E. Mills, C. T. Luttig, C. E. Larkins, A. Beauchamp, C. Tsui, W. S. Pittard, and S. E. Devine (2006)
Genome Res. 16, 1182-1190
   Abstract »    Full Text »    PDF »
Copy number variation: New insights in genome diversity.
J. L. Freeman, G. H. Perry, L. Feuk, R. Redon, S. A. McCarroll, D. M. Altshuler, H. Aburatani, K. W. Jones, C. Tyler-Smith, M. E. Hurles, et al. (2006)
Genome Res. 16, 949-961
   Abstract »    Full Text »    PDF »
Inaugural Article: Processes of copy-number change in human DNA: The dynamics of {alpha}-globin gene deletion.
K.-W. G. Lam and A. J. Jeffreys (2006)
PNAS 103, 8921-8927
   Abstract »    Full Text »    PDF »
Promoter Shuffling at a Nuclear Gene for Mitochondrial RPL27. Involvement of Interchromosome and Subsequent Intrachromosome Recombinations.
M. Ueda, S.-i. Arimura, M. P. Yamamoto, F. Takaiwa, N. Tsutsumi, and K.-i. Kadowaki (2006)
Plant Physiology 141, 702-710
   Abstract »    Full Text »    PDF »
Hotspots for copy number variation in chimpanzees and humans.
G. H. Perry, J. Tchinda, S. D. McGrath, J. Zhang, S. R. Picker, A. M. Caceres, A. J. Iafrate, C. Tyler-Smith, S. W. Scherer, E. E. Eichler, et al. (2006)
PNAS 103, 8006-8011
   Abstract »    Full Text »    PDF »
Evolutionary expansion and divergence in the ZNF91 subfamily of primate-specific zinc finger genes.
A. T. Hamilton, S. Huntley, M. Tran-Gyamfi, D. M. Baggott, L. Gordon, and L. Stubbs (2006)
Genome Res. 16, 584-594
   Abstract »    Full Text »    PDF »
A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications.
X. She, G. Liu, M. Ventura, S. Zhao, D. Misceo, R. Roberto, M. F. Cardone, M. Rocchi, NISC Comparative Sequencing Program, E. D. Green, et al. (2006)
Genome Res. 16, 576-583
   Abstract »    Full Text »    PDF »
Allelic recombination and de novo deletions in sperm in the human {beta}-globin gene region.
K. Holloway, V. E. Lawson, and A. J. Jeffreys (2006)
Hum. Mol. Genet. 15, 1099-1111
   Abstract »    Full Text »    PDF »
Stability of Large Segmental Duplications in the Yeast Genome.
R. Koszul, B. Dujon, and G. Fischer (2006)
Genetics 172, 2211-2222
   Abstract »    Full Text »    PDF »
Identification by full-coverage array CGH of human DNA copy number increases relative to chimpanzee and gorilla.
G. M. Wilson, S. Flibotte, P. I. Missirlis, M. A. Marra, S. Jones, K. Thornton, A. G. Clark, and R. A. Holt (2006)
Genome Res. 16, 173-181
   Abstract »    Full Text »    PDF »
Conserved Synteny Between the Ciona Genome and Human Paralogons Identifies Large Duplication Events in the Molecular Evolution of the Insulin-Relaxin Gene Family.
R. P. Olinski, L.-G. Lundin, and F. Hallbook (2006)
Mol. Biol. Evol. 23, 10-22
   Abstract »    Full Text »    PDF »
Duplication processes in Saccharomyces cerevisiae haploid strains.
J. Schacherer, J. de Montigny, A. Welcker, J.-L. Souciet, and S. Potier (2005)
Nucleic Acids Res. 33, 6319-6326
   Abstract »    Full Text »    PDF »
Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27.
N. Kouprina, A. Pavlicek, V. N. Noskov, G. Solomon, J. Otstot, W. Isaacs, J. D. Carpten, J. M. Trent, J. Schleutker, J. C. Barrett, et al. (2005)
Genome Res. 15, 1477-1486
   Abstract »    Full Text »    PDF »
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome.
A. Pavlicek, R. House, A. J. Gentles, J. Jurka, and B. E. Morrow (2005)
Genome Res. 15, 1487-1495
   Abstract »    Full Text »    PDF »
Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin {beta} gene cluster.
P. Hallast, L. Nagirnaja, T. Margus, and M. Laan (2005)
Genome Res. 15, 1535-1546
   Abstract »    Full Text »    PDF »
A Novel Gene Family NBPF: Intricate Structure Generated by Gene Duplications During Primate Evolution.
K. Vandepoele, N. Van Roy, K. Staes, F. Speleman, and F. van Roy (2005)
Mol. Biol. Evol. 22, 2265-2274
   Abstract »    Full Text »    PDF »
Designability, aggregation propensity and duplication of disease-associated proteins.
P. Wong, A. Fritz, and D. Frishman (2005)
Protein Eng. Des. Sel. 18, 503-508
   Abstract »    Full Text »    PDF »
Using bioinformatics and genome analysis for new therapeutic interventions.
D. W. Mount and R. Pandey (2005)
Mol. Cancer Ther. 4, 1636-1643
   Abstract »    Full Text »    PDF »
Why do human diversity levels vary at a megabase scale?.
I. Hellmann, K. Prufer, H. Ji, M. C. Zody, S. Paabo, and S. E. Ptak (2005)
Genome Res. 15, 1222-1231
   Abstract »    Full Text »    PDF »
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.
J C K Barber (2005)
J. Med. Genet. 42, 609-629
   Abstract »    Full Text »    PDF »
Dynamics of Mammalian Chromosome Evolution Inferred from Multispecies Comparative Maps.
W. J. Murphy, D. M. Larkin, A. E.-v. der Wind, G. Bourque, G. Tesler, L. Auvil, J. E. Beever, B. P. Chowdhary, F. Galibert, L. Gatzke, et al. (2005)
Science 309, 613-617
   Abstract »    Full Text »    PDF »
Retention of Latent Centromeres in the Mammalian Genome.
G. C. Ferreri, D. M. Liscinsky, J. A. Mack, M. D. B. Eldridge, and R. J. O'Neill (2005)
J. Hered. 96, 217-224
   Abstract »    Full Text »    PDF »
GMAP: a genomic mapping and alignment program for mRNA and EST sequences.
T. D. Wu and C. K. Watanabe (2005)
Bioinformatics 21, 1859-1875
   Abstract »    Full Text »    PDF »
Segmental trisomy of chromosome 17: A mouse model of human aneuploidy syndromes.
T. Vacik, M. Ort, S. Gregorova, P. Strnad, R. Blatny, N. Conte, A. Bradley, J. Bures, and J. Forejt (2005)
PNAS 102, 4500-4505
   Abstract »    Full Text »    PDF »
Quantifying the mechanisms for segmental duplications in mammalian genomes by statistical analysis and modeling.
Y. Zhou and B. Mishra (2005)
PNAS 102, 4051-4056
   Abstract »    Full Text »    PDF »
The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility.
E. Gonzalez, H. Kulkarni, H. Bolivar, A. Mangano, R. Sanchez, G. Catano, R. J. Nibbs, B. I. Freedman, M. P. Quinones, M. J. Bamshad, et al. (2005)
Science 307, 1434-1440
   Abstract »    Full Text »    PDF »
Complex genomic rearrangements lead to novel primate gene function.
F. D. Ciccarelli, C. von Mering, M. Suyama, E. D. Harrington, E. Izaurralde, and P. Bork (2005)
Genome Res. 15, 343-351
   Abstract »    Full Text »    PDF »
Evolutionary History of Chromosome 20.
D. Misceo, M. F. Cardone, L. Carbone, P. D'Addabbo, P. J. de Jong, M. Rocchi, and N. Archidiacono (2005)
Mol. Biol. Evol. 22, 360-366
   Abstract »    Full Text »    PDF »
Patterns of Segmental Duplication in the Human Genome.
L. Zhang, H. H. S. Lu, W.-y. Chung, J. Yang, and W.-H. Li (2005)
Mol. Biol. Evol. 22, 135-141
   Abstract »    Full Text »    PDF »
Defining the function of a prolactin gene family member.
J. A. Green (2004)
PNAS 101, 16397-16398
   Full Text »    PDF »
An intermediate grade of finished genomic sequence suitable for comparative analyses.
R. W. Blakesley, N. F. Hansen, J. C. Mullikin, P. J. Thomas, J. C. McDowell, B. Maskeri, A. C. Young, B. Benjamin, S. Y. Brooks, B. I. Coleman, et al. (2004)
Genome Res. 14, 2235-2244
   Abstract »    Full Text »    PDF »
Natural Genetic Variation Caused by Transposable Elements in Humans.
E. A. Bennett, L. E. Coleman, C. Tsui, W. S. Pittard, and S. E. Devine (2004)
Genetics 168, 933-951
   Abstract »    Full Text »    PDF »
Inverted Repeat Structure of the Human Genome: The X-Chromosome Contains a Preponderance of Large, Highly Homologous Inverted Repeats That Contain Testes Genes.
P. E. Warburton, J. Giordano, F. Cheung, Y. Gelfand, and G. Benson (2004)
Genome Res. 14, 1861-1869
   Abstract »    Full Text »    PDF »
Analysis of Human mRNAs With the Reference Genome Sequence Reveals Potential Errors, Polymorphisms, and RNA Editing.
T. S. Furey, M. Diekhans, Y. Lu, T. A. Graves, L. Oddy, J. Randall-Maher, L. W. Hillier, R. K. Wilson, and D. Haussler (2004)
Genome Res. 14, 2034-2040
   Abstract »    Full Text »    PDF »
Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.
S. W. Scherer and E. D. Green (2004)
Hum. Mol. Genet. 13, R303-R313
   Abstract »    Full Text »    PDF »
Organization and Evolution of a Gene-Rich Region of the Mouse Genome: A 12.7-Mb Region Deleted in the Del(13)Svea36H Mouse.
A.-M. Mallon, L. Wilming, J. Weekes, J. G.R. Gilbert, J. Ashurst, S. Peyrefitte, L. Matthews, M. Cadman, R. McKeone, C. A. Sellick, et al. (2004)
Genome Res. 14, 1888-1901
   Abstract »    Full Text »    PDF »
Recurrent Sites for New Centromere Seeding.
M. Ventura, S. Weigl, L. Carbone, M. F. Cardone, D. Misceo, M. Teti, P. D'Addabbo, A. Wandall, E. Bjorck, P. J. de Jong, et al. (2004)
Genome Res. 14, 1696-1703
   Abstract »    Full Text »    PDF »
Duplicative and Conservative Transpositions of Larval serum protein 1 Genes in the Genus Drosophila.
J. Gonzalez, F. Casals, and A. Ruiz (2004)
Genetics 168, 253-264
   Abstract »    Full Text »    PDF »
Evolution of Beta Satellite DNA Sequences: Evidence for Duplication-Mediated Repeat Amplification and Spreading.
M. F. Cardone, L. Ballarati, M. Ventura, M. Rocchi, A. Marozzi, E. Ginelli, and R. Meneveri (2004)
Mol. Biol. Evol. 21, 1792-1799
   Abstract »    Full Text »    PDF »
Regional Patterns of Gene Expression in Human and Chimpanzee Brains.
P. Khaitovich, B. Muetzel, X. She, M. Lachmann, I. Hellmann, J. Dietzsch, S. Steigele, H.-H. Do, G. Weiss, W. Enard, et al. (2004)
Genome Res. 14, 1462-1473
   Abstract »    Full Text »    PDF »
Segmental Duplications Flank the Multiple Sclerosis Locus on Chromosome 17q.
D. C. Chen, J. Saarela, R. A. Clark, T. Miettinen, A. Chi, E. E. Eichler, L. Peltonen, and A. Palotie (2004)
Genome Res. 14, 1483-1492
   Abstract »    Full Text »    PDF »
Types and Frequencies of Sequencing Errors in Methyl-Filtered and High C0t Maize Genome Survey Sequences.
Y. Fu, A.-P. Hsia, L. Guo, and P. S. Schnable (2004)
Plant Physiology 135, 2040-2045
   Abstract »    Full Text »    PDF »
Large-Scale Copy Number Polymorphism in the Human Genome.
J. Sebat, B. Lakshmi, J. Troge, J. Alexander, J. Young, P. Lundin, S. Maner, H. Massa, M. Walker, M. Chi, et al. (2004)
Science 305, 525-528
   Abstract »    Full Text »    PDF »
Distribution of short paired duplications in mammalian genomes.
E. E. Thomas, N. Srebro, J. Sebat, N. Navin, J. Healy, B. Mishra, and M. Wigler (2004)
PNAS 101, 10349-10354
   Abstract »    Full Text »    PDF »
Recovery of a Function Involving Gene Duplication by Retroposition in Saccharomyces cerevisiae.
J. Schacherer, Y. Tourrette, J.-L. Souciet, S. Potier, and J. de Montigny (2004)
Genome Res. 14, 1291-1297
   Abstract »    Full Text »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)