Skip NavigationSkip to Content
Return Return to Search Results

Genetic Control of Variegated KIR Gene Expression: Polymorphisms of the Bi-Directional KIR3DL1 Promoter Are Associated with Distinct Frequencies of Gene Expression

  1. Author:
    Li, H. C.
    Pascal, V.
    Martin, M. P.
    Carrington, M.
    Anderson, S. K.

  2. Author Address

    Li, Hongchuan, Martin, Maureen P.; Carrington, Mary, Anderson, Stephen K.] NCI, SAIC Frederick Inc, Basic Res Program, Frederick, MD 21701 USA. [Li, Hongchuan, Pascal, Veronique, Martin, Maureen P.; Carrington, Mary, Anderson, Stephen K.] NCI, Canc & Inflammat Program, Expt Immunol Lab, Canc Res Ctr, Frederick, MD 21701 USA.
    1. Year: 2008
  2. Journal: Plos Genetics
    1. 4
    2. 11
  4. Type of Article: Article
  1. Abstract:

    Natural killer (NK) cells play an important role in the detection and elimination of tumors and virus-infected cells by the innate immune system. Human NK cells use cell surface receptors (KIR) for class I MHC to sense alterations of class I on potential target cells. Individual NK cells only express a subset of the available KIR genes, generating specialized NK cells that can specifically detect alteration of a particular class I molecule or group of molecules. The probabilistic behavior of human KIR bi-directional promoters is proposed to control the frequency of expression of these variegated genes. Analysis of a panel of donors has revealed the presence of several functionally relevant promoter polymorphisms clustered mainly in the inhibitory KIR family members, especially the KIR3DL1 alleles. We demonstrate for the first time that promoter polymorphisms affecting the strength of competing sense and antisense promoters largely explain the differential frequency of expression of KIR3DL1 allotypes on NK cells. KIR3DL1/S1 subtypes have distinct biological activity and coding region variants of the KIR3DL1/S1 gene strongly influence pathogenesis of HIV/AIDS and other human diseases. We propose that the polymorphisms shown in this study to regulate the frequency of KIR3DL1/S1 subtype expression on NK cells contribute substantially to the phenotypic variation across allotypes with respect to disease resistance.

    See More

  1. Keywords:

External Sources

  1. PMID: 19008943

Library Notes

  1. No notes added.
NCI at Frederick

You are leaving a government website.

This external link provides additional information that is consistent with the intended purpose of this site. The government cannot attest to the accuracy of a non-federal site.

Linking to a non-federal site does not constitute an endorsement by this institution or any of its employees of the sponsors or the information and products presented on the site. You will be subject to the destination site's privacy policy when you follow the link.

ContinueCancel