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.


Logo for

Science 307 (5714): 1434-1440

Copyright © 2005 by the American Association for the Advancement of Science

The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility

Enrique Gonzalez,1* Hemant Kulkarni,1* Hector Bolivar,1*{dagger} Andrea Mangano,2* Racquel Sanchez,1{ddagger} Gabriel Catano,1{ddagger} Robert J. Nibbs,3{ddagger} Barry I. Freedman,4{ddagger} Marlon P. Quinones,1{ddagger} Michael J. Bamshad,5 Krishna K. Murthy,6 Brad H. Rovin,7 William Bradley,8,9 Robert A. Clark,1 Stephanie A. Anderson,8,9 Robert J. O'Connell,9,10 Brian K. Agan,9,10 Seema S. Ahuja,1 Rosa Bologna,11 Luisa Sen,2 Matthew J. Dolan,9,10,12§ Sunil K. Ahuja1§

Abstract: Segmental duplications in the human genome are selectively enriched for genes involved in immunity, although the phenotypic consequences for host defense are unknown. We show that there are significant interindividual and interpopulation differences in the copy number of a segmental duplication encompassing the gene encoding CCL3L1 (MIP-1{alpha}P), a potent human immunodeficiency virus–1 (HIV-1)–suppressive chemokine and ligand for the HIV coreceptor CCR5. Possession of a CCL3L1 copy number lower than the population average is associated with markedly enhanced HIV/acquired immunodeficiency syndrome (AIDS) susceptibility. This susceptibility is even greater in individuals who also possess disease-accelerating CCR5 genotypes. This relationship between CCL3L1 dose and altered HIV/AIDS susceptibility points to a central role for CCL3L1 in HIV/AIDS pathogenesis and indicates that differences in the dose of immune response genes may constitute a genetic basis for variable responses to infectious diseases.

1 Veterans Administration Research Center for AIDS and HIV-1 Infection, South Texas Veterans Health Care System, and Department of Medicine, University of Texas Health Science Center, San Antonio, TX 78229, USA.
2 Laboratorio de Biología Celular y Retrovirus–Consejo Nacional de Investigaciones Científicus y Tecnicas, Hospital de Pediatría "J. P. Garrahan," 1245 Buenos Aires, Argentina.
11 Servicio de Infectología, Hospital de Pediatría "J. P. Garrahan," 1245 Buenos Aires, Argentina.
3 Cancer Research UK Beatson Laboratories, Glasgow G61 1BD, Scotland, UK.
4 Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.
5 Departments of Human Genetics and Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.
6 Southwest Foundation for Biomedical Research, San Antonio, TX 78227, USA.
7 Division of Nephrology, Ohio State University, Columbus, OH 43210, USA.
8 Henry M. Jackson Foundation, Wilford Hall Medical Center, Lackland Air Force Base, TX 78236, USA.
9 Tri-Service AIDS Clinical Consortium, Wilford Hall Medical Center, Lackland Air Force Base, TX 78236, USA.
10 Infectious Diseases Service, Wilford Hall Medical Center, Lackland Air Force Base, TX 78236, USA.
12 Defense Institute for Medical Operations, Brooks City-Base, TX 78235, USA.

* These authors contributed equally to this work.

{dagger} Present address: AIDS Clinical Research Unit, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.

{ddagger} These authors contributed equally to this work.

§ To whom correspondence should be addressed. E-mail: ahujas{at} (S.K.A.); matthew.dolan{at} (M.J.D.)

Piecewise-constant and low-rank approximation for identification of recurrent copy number variations.
X. Zhou, J. Liu, X. Wan, and W. Yu (2014)
   Abstract »    Full Text »    PDF »
High-throughput sequencing for biology and medicine.
W. W. Soon, M. Hariharan, and M. P. Snyder (2014)
Mol Syst Biol 9, 640
   Abstract »    Full Text »    PDF »
Copy number variations of HLA-DRB5 is associated with systemic lupus erythematosus risk in Chinese Han population.
L. Wu, S. Guo, D. Yang, Y. Ma, H. Ji, Y. Chen, J. Zhang, Y. Wang, L. Jin, J. Wang, et al. (2014)
Acta Biochim Biophys Sin 46, 155-160
   Abstract »    Full Text »    PDF »
HIV-1 exploits CCR5 conformational heterogeneity to escape inhibition by chemokines.
P. Colin, Y. Benureau, I. Staropoli, Y. Wang, N. Gonzalez, J. Alcami, O. Hartley, A. Brelot, F. Arenzana-Seisdedos, and B. Lagane (2013)
PNAS 110, 9475-9480
   Abstract »    Full Text »    PDF »
A Common Deletion in the APOBEC3 Genes and Breast Cancer Risk.
J. Long, R. J. Delahanty, G. Li, Y.-T. Gao, W. Lu, Q. Cai, Y.-B. Xiang, C. Li, B.-T. Ji, Y. Zheng, et al. (2013)
J Natl Cancer Inst 105, 573-579
   Abstract »    Full Text »    PDF »
Genome-Wide Copy Number Variant Analysis in Inbred Chickens Lines With Different Susceptibility to Marek's Disease.
J. Luo, Y. Yu, A. Mitra, S. Chang, H. Zhang, G. Liu, N. Yang, and J. Song (2013)
g3 3, 217-223
   Abstract »    Full Text »    PDF »
Gene duplication as a mechanism of genomic adaptation to a changing environment.
F. A. Kondrashov (2012)
Proc R Soc B 279, 5048-5057
   Abstract »    Full Text »    PDF »
{beta}-defensin Genomic Copy Number Is Associated With HIV Load and Immune Reconstitution in Sub-Saharan Africans.
R. J. Hardwick, W. Amogne, S. Mugusi, G. Yimer, E. Ngaimisi, A. Habtewold, O. Minzi, E. Makonnen, M. Janabi, L. R. Machado, et al. (2012)
The Journal of Infectious Disease 206, 1012-1019
   Abstract »    Full Text »    PDF »
Identification of the platelet-derived chemokine CXCL4/PF-4 as a broad-spectrum HIV-1 inhibitor.
D. J. Auerbach, Y. Lin, H. Miao, R. Cimbro, M. J. DiFiore, M. E. Gianolini, L. Furci, P. Biswas, A. S. Fauci, and P. Lusso (2012)
PNAS 109, 9569-9574
   Abstract »    Full Text »    PDF »
Soluble factors from T cells inhibiting X4 strains of HIV are a mixture of {beta} chemokines and RNases.
F. Cocchi, A. L. DeVico, W. Lu, M. Popovic, O. Latinovic, M. M. Sajadi, R. R. Redfield, M. K. Lafferty, M. Galli, A. Garzino-Demo, et al. (2012)
PNAS 109, 5411-5416
   Abstract »    Full Text »    PDF »
Association of copy number variation in the AHI1 gene with risk of obesity in the Chinese population.
L. Huang, D. Teng, H. Wang, G. Sheng, and T. Liu (2012)
Eur. J. Endocrinol. 166, 727-734
   Abstract »    Full Text »    PDF »
Host Genes Important to HIV Replication and Evolution.
A. Telenti and W. E. Johnson (2012)
Cold Spring Harb Perspect Med 2, a007203
   Abstract »    Full Text »    PDF »
Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases.
H. J. Lee, J. Kweon, E. Kim, S. Kim, and J.-S. Kim (2012)
Genome Res. 22, 539-548
   Abstract »    Full Text »    PDF »
The Coalescent with Selection on Copy Number Variants.
K. M. Teshima and H. Innan (2012)
Genetics 190, 1077-1086
   Abstract »    Full Text »    PDF »
Revealing Mammalian Evolutionary Relationships by Comparative Analysis of Gene Clusters.
G. Song, C. Riemer, B. Dickins, H. L. Kim, L. Zhang, Y. Zhang, C.-H. Hsu, R. C. Hardison, NISC Comparative Sequencing Program, E. D. Green, et al. (2012)
Genome Biol Evol 4, 586-601
   Abstract »    Full Text »    PDF »
Copy number variation at 6q13 functions as a long-range regulator and is associated with pancreatic cancer risk.
L. Huang, D. Yu, C. Wu, K. Zhai, G. Jiang, G. Cao, C. Wang, Y. Liu, M. Sun, Z. Li, et al. (2012)
Carcinogenesis 33, 94-100
   Abstract »    Full Text »    PDF »
Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions.
A. Schlattl, S. Anders, S. M. Waszak, W. Huber, and J. O. Korbel (2011)
Genome Res. 21, 2004-2013
   Abstract »    Full Text »    PDF »
Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project.
X. J. Mu, Z. J. Lu, Y. Kong, H. Y. K. Lam, and M. B. Gerstein (2011)
Nucleic Acids Res. 39, 7058-7076
   Abstract »    Full Text »    PDF »
Chemokine (C-C Motif) Receptor 5 -2459 Genotype in Patients Receiving Highly Active Antiretroviral Therapy: Race-Specific Influence on Virologic Success.
R. K. Mehlotra, V. K. Cheruvu, M. J. Blood Zikursh, R. L. Benish, M. M. Lederman, R. A. Salata, B. Gripshover, G. A. McComsey, M. V. Lisgaris, S. Fulton, et al. (2011)
The Journal of Infectious Disease 204, 291-298
   Abstract »    Full Text »    PDF »
cn.FARMS: a latent variable model to detect copy number variations in microarray data with a low false discovery rate.
D.-A. Clevert, A. Mitterecker, A. Mayr, G. Klambauer, M. Tuefferd, A. D. Bondt, W. Talloen, H. Gohlmann, and S. Hochreiter (2011)
Nucleic Acids Res. 39, e79
   Abstract »    Full Text »    PDF »
FCGR3B copy number variation is associated with systemic lupus erythematosus risk in Afro-Caribbeans.
M. Molokhia, M. Fanciulli, E. Petretto, A. L. Patrick, P. McKeigue, A. L. Roberts, T. J. Vyse, and T. J. Aitman (2011)
Rheumatology 50, 1206-1210
   Abstract »    Full Text »    PDF »
Efficient algorithms for tandem copy number variation reconstruction in repeat-rich regions.
D. He, F. Hormozdiari, N. Furlotte, and E. Eskin (2011)
Bioinformatics 27, 1513-1520
   Abstract »    Full Text »    PDF »
Influence of Variations in CCL3L1 and CCR5 on Tuberculosis in a Northwestern Colombian Population.
M. Mamtani, S. Mummidi, V. Ramsuran, M.-H. Pham, R. Maldonado, K. Begum, M. S. Valera, R. Sanchez, J. Castiblanco, H. Kulkarni, et al. (2011)
The Journal of Infectious Disease 203, 1590-1594
   Abstract »    Full Text »    PDF »
Amplification ratio control system for copy number variation genotyping.
P. A. I. Guthrie, T. R. Gaunt, M. R. Abdollahi, S. Rodriguez, D. A. Lawlor, G. D. Smith, and I. N. M. Day (2011)
Nucleic Acids Res. 39, e54
   Abstract »    Full Text »    PDF »
Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.
I. Jarick, C. I. G. Vogel, S. Scherag, H. Schafer, J. Hebebrand, A. Hinney, and A. Scherag (2011)
Hum. Mol. Genet. 20, 840-852
   Abstract »    Full Text »    PDF »
Human immunodeficiency virus type 1 long-term non-progressors: the viral, genetic and immunological basis for disease non-progression.
K. Poropatich and D. J. Sullivan Jr (2011)
J. Gen. Virol. 92, 247-268
   Abstract »    Full Text »    PDF »
Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics.
B. E. Stranger, E. A. Stahl, and T. Raj (2011)
Genetics 187, 367-383
   Abstract »    Full Text »    PDF »
Copy Number Alterations among Mammalian Enzymes Cluster in the Metabolic Network.
M. Bekaert and G. C. Conant (2011)
Mol. Biol. Evol. 28, 1111-1121
   Abstract »    Full Text »    PDF »
Detecting structural variations in the human genome using next generation sequencing.
R. Xi, T.-M. Kim, and P. J. Park (2011)
Briefings in Functional Genomics
   Abstract »    Full Text »    PDF »
RNA-mediated epigenetic regulation of DNA copy number.
M. Nowacki, J. E. Haye, W. Fang, V. Vijayan, and L. F. Landweber (2010)
PNAS 107, 22140-22144
   Abstract »    Full Text »    PDF »
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.
M. C. Aldhous, S. Abu Bakar, N. J. Prescott, R. Palla, K. Soo, J. C. Mansfield, C. G. Mathew, J. Satsangi, and J. A. L. Armour (2010)
Hum. Mol. Genet. 19, 4930-4938
   Abstract »    Full Text »    PDF »
The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.
D. S. Cabianca and D. Gabellini (2010)
J. Cell Biol. 191, 1049-1060
   Abstract »    Full Text »    PDF »
Determinants of Protection among HIV-Exposed Seronegative Persons: An Overview.
M. M. Lederman, G. Alter, D. C. Daskalakis, B. Rodriguez, S. F. Sieg, G. Hardy, M. Cho, D. Anthony, C. Harding, A. Weinberg, et al. (2010)
The Journal of Infectious Disease 202, S333-S338
   Abstract »    Full Text »    PDF »
A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
H. M. Blauw, A. Al-Chalabi, P. M. Andersen, P. W. J. van Vught, F. P. Diekstra, M. A. van Es, C. G. J. Saris, E. J. N. Groen, W. van Rheenen, M. Koppers, et al. (2010)
Hum. Mol. Genet. 19, 4091-4099
   Abstract »    Full Text »    PDF »
Association of variation in Fc{gamma} receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples.
C. McKinney, M. Fanciulli, M. E. Merriman, A. Phipps-Green, B. Z. Alizadeh, B. P. C. Koeleman, N. Dalbeth, P. J. Gow, A. A. Harrison, J. Highton, et al. (2010)
Ann Rheum Dis 69, 1711-1716
   Abstract »    Full Text »    PDF »
Seven Transmembrane Receptors as Shapeshifting Proteins: The Impact of Allosteric Modulation and Functional Selectivity on New Drug Discovery.
T. Kenakin and L. J. Miller (2010)
Pharmacol. Rev. 62, 265-304
   Abstract »    Full Text »    PDF »
Analysis of copy number variations among diverse cattle breeds.
G. E. Liu, Y. Hou, B. Zhu, M. F. Cardone, L. Jiang, A. Cellamare, A. Mitra, L. J. Alexander, L. L. Coutinho, M. E. Dell'Aquila, et al. (2010)
Genome Res. 20, 693-703
   Abstract »    Full Text »    PDF »
Susceptibility of Human Th17 Cells to Human Immunodeficiency Virus and Their Perturbation during Infection.
A. El Hed, A. Khaitan, L. Kozhaya, N. Manel, D. Daskalakis, W. Borkowsky, F. Valentine, D. R. Littman, and D. Unutmaz (2010)
The Journal of Infectious Disease 201, 843-854
   Abstract »    Full Text »    PDF »
Population-genetic nature of copy number variations in the human genome.
M. Kato, T. Kawaguchi, S. Ishikawa, T. Umeda, R. Nakamichi, M. H. Shapero, K. W. Jones, Y. Nakamura, H. Aburatani, and T. Tsunoda (2010)
Hum. Mol. Genet. 19, 761-773
   Abstract »    Full Text »    PDF »
CCL3L1 Copy Number Is a Strong Genetic Determinant of HIV Seropositivity in Caucasian Intravenous Drug Users.
K. Huik, M. Sadam, T. Karki, R. Avi, T. Krispin, P. Paap, K. Ruutel, A. Uuskula, A. Talu, K. Abel-Ollo, et al. (2010)
The Journal of Infectious Disease 201, 730-739
   Abstract »    Full Text »    PDF »
Correlates of severe disease in patients with 2009 pandemic influenza (H1N1) virus infection.
R. Zarychanski, T. L. Stuart, A. Kumar, S. Doucette, L. Elliott, J. Kettner, and F. Plummer (2010)
Can. Med. Assoc. J. 182, 257-264
   Abstract »    Full Text »    PDF »
Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations.
Y. Fu, Z. Chen, A. I. F. Blakemore, E. Orwoll, and D. M. Cohen (2010)
Physiol Genomics 40, 121-127
   Abstract »    Full Text »    PDF »
Ligand Detection in the Allosteric World.
T. P. Kenakin (2010)
J Biomol Screen 15, 119-130
   Abstract »    Full Text »    PDF »
FCGR3B copy number variation is not associated with lupus nephritis in a Chinese population.
J. Lv, Y. Yang, X. Zhou, L. Yu, R. Li, P. Hou, and H. Zhang (2010)
Lupus 19, 158-161
   Abstract »    PDF »
Double-Edged Genetic Swords and Immunity: Lesson from CCR5 and Beyond.
S. K. Ahuja and W. He (2010)
The Journal of Infectious Disease 201, 171-174
   Full Text »    PDF »
Contribution of Copy Number Variation in the Regulation of Complement Activation Locus to Development of Age-Related Macular Degeneration.
K. E. Schmid-Kubista, N. Tosakulwong, Y. Wu, E. Ryu, L. A. Hecker, K. H. Baratz, W. L. Brown, and A. O. Edwards (2009)
Invest. Ophthalmol. Vis. Sci. 50, 5070-5079
   Abstract »    Full Text »    PDF »
Genetics and the general physician: insights, applications and future challenges.
J.C. Knight (2009)
QJM 102, 757-772
   Abstract »    Full Text »    PDF »
Rapid identification of homologous recombinants and determination of gene copy number with reference/query pyrosequencing (RQPS).
Z. Liu, A. C. Obenauf, M. R. Speicher, and R. Kopan (2009)
Genome Res. 19, 2081-2089
   Abstract »    Full Text »    PDF »
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
L. E.L.M. Vissers, S. S. Bhatt, I. M. Janssen, Z. Xia, S. R. Lalani, R. Pfundt, K. Derwinska, B. B.A. de Vries, C. Gilissen, A. Hoischen, et al. (2009)
Hum. Mol. Genet. 18, 3579-3593
   Abstract »    Full Text »    PDF »
Validation of the Agilent 244K Oligonucleotide Array-Based Comparative Genomic Hybridization Platform for Clinical Cytogenetic Diagnosis.
S. Yu, D. C. Bittel, N. Kibiryeva, D. L. Zwick, and L. D. Cooley (2009)
Am J Clin Pathol 132, 349-360
   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 »
Responsiveness of T Cells to Interleukin-7 Is Associated with Higher CD4+ T Cell Counts in HIV-1-Positive Individuals with Highly Active Antiretroviral Therapy-Induced Viral Load Suppression.
J. F. Camargo, H. Kulkarni, B. K. Agan, A. A. Gaitan, L. A. Beachy, S. Srinivas, W. He, S. Anderson, V. C. Marconi, M. J. Dolan, et al. (2009)
The Journal of Infectious Disease 199, 1872-1882
   Abstract »    Full Text »    PDF »
Strain-Dependent Variation in 18S Ribosomal DNA Copy Numbers in Aspergillus fumigatus.
M. L. Herrera, A. C. Vallor, J. A. Gelfond, T. F. Patterson, and B. L. Wickes (2009)
J. Clin. Microbiol. 47, 1325-1332
   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 »
Mapping DNA structural variation in dogs.
W.-K. Chen, J. D. Swartz, L. J. Rush, and C. E. Alvarez (2009)
Genome Res. 19, 500-509
   Abstract »    Full Text »    PDF »
The Relative Activity of "Function Sparing" HIV-1 Entry Inhibitors on Viral Entry and CCR5 Internalization: Is Allosteric Functional Selectivity a Valuable Therapeutic Property?.
V. M. Muniz-Medina, S. Jones, J. M. Maglich, C. Galardi, R. E. Hollingsworth, W. M. Kazmierski, R. G. Ferris, M. P. Edelstein, K. E. Chiswell, and T. P. Kenakin (2009)
Mol. Pharmacol. 75, 490-501
   Abstract »    Full Text »    PDF »
Allelic recombination between distinct genomic locations generates copy number diversity in human {beta}-defensins.
S. A. Bakar, E. J. Hollox, and J. A. L. Armour (2009)
PNAS 106, 853-858
   Abstract »    Full Text »    PDF »
Evidence for Persistent Low-Level Viremia in Individuals Who Control Human Immunodeficiency Virus in the Absence of Antiretroviral Therapy.
H. Hatano, E. L. Delwart, P. J. Norris, T.-H. Lee, J. Dunn-Williams, P. W. Hunt, R. Hoh, S. L. Stramer, J. M. Linnen, J. M. McCune, et al. (2009)
J. Virol. 83, 329-335
   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 »
Extending genome-wide association studies to copy-number variation.
S. A. McCarroll (2008)
Hum. Mol. Genet. 17, R135-R142
   Abstract »    Full Text »    PDF »
Emergence and Persistence of CXCR4-Tropic HIV-1 in a Population of Men from the Multicenter AIDS Cohort Study.
J. Shepherd, L. P. Jacobson, W. Qiao, B. D. Jamieson, J. P. Phair, P. Piazza, T. C. Quinn, and J. B. Margolick (2008)
The Journal of Infectious Disease 198, 1104-1112
   Abstract »    Full Text »    PDF »
Analysis of copy number variation using quantitative interspecies competitive PCR.
N. M. Williams, H. Williams, E. Majounie, N. Norton, B. Glaser, H. R. Morris, M. J. Owen, and M. C. O'Donovan (2008)
Nucleic Acids Res. 36, e112
   Abstract »    Full Text »    PDF »
Genetic Characterization of Human Immunodeficiency Virus Type 1 in Elite Controllers: Lack of Gross Genetic Defects or Common Amino Acid Changes.
T. Miura, M. A. Brockman, C. J. Brumme, Z. L. Brumme, J. M. Carlson, F. Pereyra, A. Trocha, M. M. Addo, B. L. Block, A. C. Rothchild, et al. (2008)
J. Virol. 82, 8422-8430
   Abstract »    Full Text »    PDF »
Inducing Segmental Aneuploid Mosaicism in the Mouse Through Targeted Asymmetric Sister Chromatid Event of Recombination.
A. Duchon, V. Besson, P. L. Pereira, L. Magnol, and Y. Herault (2008)
Genetics 180, 51-59
   Abstract »    Full Text »    PDF »
Seven Transmembrane Receptors as Nature's Prototype Allosteric Protein: De-emphasizing the Geography of Binding.
T. P. Kenakin (2008)
Mol. Pharmacol. 74, 541-543
   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 »
Hidden copy number variation in the HapMap population.
J. C. Marioni, M. White, S. Tavare, and A. G. Lynch (2008)
PNAS 105, 10067-10072
   Abstract »    Full Text »    PDF »
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake.
L. C. Willcocks, P. A. Lyons, M. R. Clatworthy, J. I. Robinson, W. Yang, S. A. Newland, V. Plagnol, N. N. McGovern, A. M. Condliffe, E. R. Chilvers, et al. (2008)
J. Exp. Med. 205, 1573-1582
   Abstract »    Full Text »    PDF »
Independent Effects of Genetic Variations in Mannose-Binding Lectin Influence the Course of HIV Disease: The Advantage of Heterozygosity for Coding Mutations.
G. Catano, B. K. Agan, H. Kulkarni, V. Telles, V. C. Marconi, M. J. Dolan, and S. K. Ahuja (2008)
The Journal of Infectious Disease 198, 72-80
   Abstract »    Full Text »    PDF »
Apolipoprotein (apo) E4 enhances HIV-1 cell entry in vitro, and the APOE {varepsilon}4/{varepsilon}4 genotype accelerates HIV disease progression.
T. D. Burt, B. K. Agan, V. C. Marconi, W. He, H. Kulkarni, J. E. Mold, M. Cavrois, Y. Huang, R. W. Mahley, M. J. Dolan, et al. (2008)
PNAS 105, 8718-8723
   Abstract »    Full Text »    PDF »
AIDS/HIV: A STEP into Darkness or Light?.
J. P. Moore, P. J. Klasse, M. J. Dolan, and S. K. Ahuja (2008)
Science 320, 753-755
   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 »
Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis.
C McKinney, M E Merriman, P T Chapman, P J Gow, A A Harrison, J Highton, P B B Jones, L McLean, J L O'Donnell, V Pokorny, et al. (2008)
Ann Rheum Dis 67, 409-413
   Abstract »    Full Text »    PDF »
Engineering Escherichia coli heat-resistance by synthetic gene amplification.
D. Christ and J. W. Chin (2008)
Protein Eng. Des. Sel. 21, 121-125
   Abstract »    Full Text »    PDF »
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.
W. B. Breunis, E. van Mirre, M. Bruin, J. Geissler, M. de Boer, M. Peters, D. Roos, M. de Haas, H. R. Koene, and T. W. Kuijpers (2008)
Blood 111, 1029-1038
   Abstract »    Full Text »    PDF »

To Advertise     Find Products

Science Signaling. ISSN 1937-9145 (online), 1945-0877 (print). Pre-2008: Science's STKE. ISSN 1525-8882