The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility - PubMed (original) (raw)

. 2005 Mar 4;307(5714):1434-40.

doi: 10.1126/science.1101160. Epub 2005 Jan 6.

Hemant Kulkarni, Hector Bolivar, Andrea Mangano, Racquel Sanchez, Gabriel Catano, Robert J Nibbs, Barry I Freedman, Marlon P Quinones, Michael J Bamshad, Krishna K Murthy, Brad H Rovin, William Bradley, Robert A Clark, Stephanie A Anderson, Robert J O'connell, Brian K Agan, Seema S Ahuja, Rosa Bologna, Luisa Sen, Matthew J Dolan, Sunil K Ahuja

Affiliations

• PMID: 15637236
• DOI: 10.1126/science.1101160

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

Enrique Gonzalez et al. Science. 2005.

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-1alphaP), 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.

PubMed Disclaimer

Comment in

• HIV/AIDS. HIV: experiencing the pressures of modern life.
  Nolan D, James I, Mallal S. Nolan D, et al. Science. 2005 Mar 4;307(5714):1422-4. doi: 10.1126/science.1110009. Science. 2005. PMID: 15746416 No abstract available.

Similar articles

• Susceptibility to HIV/AIDS: an individual characteristic we can measure?
  Jülg B, Goebel FD. Jülg B, et al. Infection. 2005 Jun;33(3):160-2. doi: 10.1007/s15010-005-6305-4. Infection. 2005. PMID: 15940420 Review.
• HIV-1/AIDS susceptibility and copy number variation in CCL3L1, a gene encoding a natural ligand for HIV-1 co-receptor CCR5.
  Nakajima T, Kaur G, Mehra N, Kimura A. Nakajima T, et al. Cytogenet Genome Res. 2008;123(1-4):156-60. doi: 10.1159/000184703. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287150 Review.
• CCL3L1 and CCR5 influence cell-mediated immunity and affect HIV-AIDS pathogenesis via viral entry-independent mechanisms.
  Dolan MJ, Kulkarni H, Camargo JF, He W, Smith A, Anaya JM, Miura T, Hecht FM, Mamtani M, Pereyra F, Marconi V, Mangano A, Sen L, Bologna R, Clark RA, Anderson SA, Delmar J, O'Connell RJ, Lloyd A, Martin J, Ahuja SS, Agan BK, Walker BD, Deeks SG, Ahuja SK. Dolan MJ, et al. Nat Immunol. 2007 Dec;8(12):1324-36. doi: 10.1038/ni1521. Epub 2007 Oct 21. Nat Immunol. 2007. PMID: 17952079
• CCL3L1 and CCL4L1: variable gene copy number in adolescents with and without human immunodeficiency virus type 1 (HIV-1) infection.
  Shao W, Tang J, Song W, Wang C, Li Y, Wilson CM, Kaslow RA. Shao W, et al. Genes Immun. 2007 Apr;8(3):224-31. doi: 10.1038/sj.gene.6364378. Epub 2007 Mar 1. Genes Immun. 2007. PMID: 17330138
• CCL3L1 dose and HIV-1 susceptibility.
  Mackay CR. Mackay CR. Trends Mol Med. 2005 May;11(5):203-6. doi: 10.1016/j.molmed.2005.03.003. Trends Mol Med. 2005. PMID: 15882607 Review.

Cited by

• Functional effects of CCL3L1 copy number.
  Carpenter D, McIntosh RS, Pleass RJ, Armour JA. Carpenter D, et al. Genes Immun. 2012 Jul;13(5):374-9. doi: 10.1038/gene.2012.5. Epub 2012 Apr 5. Genes Immun. 2012. PMID: 22476153 Free PMC article.
• Multiply to conquer: Copy number variations at Ppd-B1 and Vrn-A1 facilitate global adaptation in wheat.
  Würschum T, Boeven PH, Langer SM, Longin CF, Leiser WL. Würschum T, et al. BMC Genet. 2015 Jul 29;16:96. doi: 10.1186/s12863-015-0258-0. BMC Genet. 2015. PMID: 26219856 Free PMC article.
• Impact of constitutional copy number variants on biological pathway evolution.
  Poptsova M, Banerjee S, Gokcumen O, Rubin MA, Demichelis F. Poptsova M, et al. BMC Evol Biol. 2013 Jan 23;13:19. doi: 10.1186/1471-2148-13-19. BMC Evol Biol. 2013. PMID: 23342974 Free PMC article.
• CCR5 promoter haplotypes differentially influence CCR5 expression on natural killer and T cell subsets in ethnically divergent HIV-1 uninfected South African populations.
  Picton AC, Paximadis M, Tiemessen CT. Picton AC, et al. Immunogenetics. 2012 Nov;64(11):795-806. doi: 10.1007/s00251-012-0642-0. Epub 2012 Aug 15. Immunogenetics. 2012. PMID: 22893032
• SRBreak: A Read-Depth and Split-Read Framework to Identify Breakpoints of Different Events Inside Simple Copy-Number Variable Regions.
  Nguyen HT, Boocock J, Merriman TR, Black MA. Nguyen HT, et al. Front Genet. 2016 Sep 15;7:160. doi: 10.3389/fgene.2016.00160. eCollection 2016. Front Genet. 2016. PMID: 27695476 Free PMC article.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Atypon
  • Ovid Technologies, Inc.

• Other Literature Sources

  • The Lens - Patent Citations Database

• Medical

  • MedlinePlus Health Information