The DOI matches its Crossref record.
The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility
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-1αP), 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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cited by
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number
Hindson, B. J., Ness, K. D., Masquelier, D. A., Belgrader, P., Heredia, N. J., Makarewicz, A. J., Bright, I. J., Lucero, M. Y., Hiddessen, A. L., Legler, T. C., et al. (2011) · Analytical Chemistry · doi:10.1021/ac202028g · Cited by 2,792
Evolutionary and biomedical insights from the rhesus macaque genome.
Gibbs, R. A., Rogers, J., Katze, M. G., Bumgarner, R., Weinstock, G. M., Mardis, E. R., Remington, K. A., Strausberg, R. L., Venter, J. C., Wilson, R. K., et al. (2007) · Science · doi:10.1126/science.1139247 · Cited by 1,403
Mechanisms of change in gene copy number
Hastings, P. J., Lupski, J. R., Rosenberg, S. M., & Ira, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2593 · Cited by 1,316
Turning a hobby into a job: How duplicated genes find new functions
Conant, G. C., & Wolfe, K. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2482 · Cited by 1,281
Structural Variation in the Human Genome and its Role in Disease
Stankiewicz, P., & Lupski, J. R. (2010) · Annual Review of Medicine · doi:10.1146/annurev-med-100708-204735 · Cited by 1,201
Copy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science · doi:10.1126/science.1149504 · Cited by 1,163
Mapping and sequencing of structural variation from eight human genomes
Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119
Personalized copy number and segmental duplication maps using next-generation sequencing
Alkan, C., Kidd, J. M., Marques-Bonet, T., Aksay, G., Antonacci, F., Hormozdiari, F., Kitzman, J. O., Baker, C., Malig, M., Mutlu, O., et al. (2009) · Nature Genetics · doi:10.1038/ng.437 · Cited by 748
Copy-number variation and association studies of human disease
McCarroll, S. A., & Altshuler, D. M. (2007) · Nature Genetics · doi:10.1038/ng2080 · Cited by 622
Population analysis of large copy number variants and hotspots of human genetic disease
Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591
Progress and promise of genome-wide association studies for human complex trait genetics
Stranger, B. E., Stahl, E. A., & Raj, T. (2011) · Genetics · doi:10.1534/genetics.110.120907 · Cited by 567
Emerging paradigms in GPCR allostery: implications for drug discovery
Wootten, D., Christopoulos, A., & Sexton, P. M. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4052 · Cited by 498
A genome-wide association study identifies protein quantitative trait loci (pQTLs)
Melzer, D., Perry, J. R. B., Hernandez, D., Corsi, A.-M., Stevens, K., Rafferty, I., Lauretani, F., Murray, A., Gibbs, J. R., Paolisso, G., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000072 · Cited by 480
Defensins in innate antiviral immunity
Klotman, M. E., & Chang, T. L. (2006) · Nature Reviews Immunology · doi:10.1038/nri1860 · Cited by 471
Ohno's dilemma: Evolution of new genes under continuous selection
Bergthorsson, U., Andersson, D. I., & Roth, J. R. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707158104 · Cited by 405
A genome-wide comparison of recent chimpanzee and human segmental duplications
Cheng, Z., Ventura, M., She, X., Khaitovich, P., Graves, T., Osoegawa, K., Church, D., DeJong, P., Wilson, R. K., Pääbo, S., et al. (2005) · Nature · doi:10.1038/nature04000 · Cited by 398
Cytokine and cytokine receptor gene polymorphisms and their functionality
Smith, A. J. P., & Humphries, S. E. (2009) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2008.11.006 · Cited by 374
Common deletions and SNPs are in linkage disequilibrium in the human genome
Hinds, D. A., Kloek, A. P., Jen, M., Chen, X., & Frazer, K. A. (2006) · Nature Genetics · doi:10.1038/ng1695 · Cited by 372
Low copy number of the salivary amylase gene predisposes to obesity
Falchi, M., El-Sayed Moustafa, J. S., Takousis, P., Pesce, F., Bonnefond, A., Andersson-Assarsson, J. C., Sudmant, P. H., Dorajoo, R., Al-Shafai, M. N., Bottolo, L., et al. (2014) · Nature Genetics · doi:10.1038/ng.2939 · Cited by 254
Copy number variation and evolution in humans and chimpanzees
Perry, G. H., Yang, F., Marques-Bonet, T., Murphy, C., Fitzgerald, T., Lee, A. S., Hyland, C., Stone, A. C., Hurles, M. E., Tyler-Smith, C., et al. (2008) · Genome Research · doi:10.1101/gr.082016.108 · Cited by 202
Payen, C., Koszul, R., Dujon, B., & Fischer, G. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000175 · Cited by 200
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
Ionita-Laza, I., Rogers, A. J., Lange, C., Raby, B. A., & Lee, C. (2009) · Genomics · doi:10.1016/j.ygeno.2008.08.012 · Cited by 198
Genomic copy number variation, human health, and disease
Wain, L. V., Armour, J. A., & Tobin, M. D. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60249-x · Cited by 196
Role of selection in fixation of gene duplications
Kondrashov, F. A., & Kondrashov, A. S. (2006) · Journal of Theoretical Biology · doi:10.1016/j.jtbi.2005.08.033 · Cited by 195
Lessons from studying monogenic disease for common disease
Peltonen, L., Perola, M., Naukkarinen, J., & Palotie, A. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl060 · Cited by 105
Rare autosomal copy number variations in early-onset familial Alzheimer’s disease
Hooli, B. V., Kovacs-Vajna, Z. M., Mullin, K., Blumenthal, M. A., Mattheisen, M., Zhang, C., Lange, C., Mohapatra, G., Bertram, L., & Tanzi, R. E. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.77 · Cited by 100
Rodríguez-Santiago, B., Brunet, A., Sobrino, B., Serra-Juhé, C., Flores, R., Armengol, L., Vilella, E., Gabau, E., Guitart, M., Guillamat, R., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2009.53 · Cited by 88
Metadata
- Authors
- Gonzalez, E., Kulkarni, H., Bolivar, H., Mangano, A., Sanchez, R., Catano, G., Nibbs, R. J., Freedman, B. I., Quinones, M. P., Bamshad, M. J., Murthy, K. K., Rovin, B. H., Bradley, W., Clark, R. A., Anderson, S. A., O'Connell, R. J., Agan, B. K., Ahuja, S. S., Bologna, R., Sen, L., Dolan, M. J., & Ahuja, S. K.
- Venue
- Science
- Published
- 2005-03-04
- Volume
- 307
- Issue
- 5714
- Pages
- 1434-1440
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2144644150
- Cited by
- 1,129
- References
- 0
- FWCI
- 39.26
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
