Skip NavigationSkip to Content
Return Return to Search Results

A mutation in KIR3DS1 that results in truncation and lack of cell surface expression

  1. Author:
    Martin, M. P.
    Pascal, V.
    Yeager, M.
    Phair, J.
    Kirk, G. D.
    Hoots, K.
    O'Brien, S. J.
    Anderson, S. K.
    Carrington, M.

  2. Author Address

    NCI, Lab Genom Divers, SAIC Frederick Inc, Frederick, MD 21702 USA. NCI, Canc & Inflammat Program, Expt Immunol Lab, Ctr Canc Res, Frederick, MD 21702 USA. NCI, Core Genotyping Facil, Adv Technol Program, SAIC Frederick Inc, Frederick, MD 21702 USA. NCI, Div Canc Epidemiol & Genet, Rockville, MD 20852 USA. Northwestern Univ, Sch Med, Dept Med, Chicago, IL 60611 USA. Univ Texas, Hlth Sci Ctr, Gulf States Hemophilia Ctr, Houston, TX 77030 USA. Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA.;Carrington, M, NCI, Lab Genom Divers, SAIC Frederick Inc, Frederick, MD 21702 USA.;carringt@ncifcrf.gov
    1. Year: 2007
    2. Date: Oct
  2. Journal: Immunogenetics
    1. 59
    2. 10
    3. Pages: 823-829
  4. Type of Article: Article
  5. ISSN: 0093-7711
  1. Abstract:

    The KIR gene cluster exhibits a high degree of polymorphism in terms of gene content as well as allelic polymorphism, and data suggest that it is evolving rapidly. The KIR3DL1 locus is one of the most polymorphic loci within this cluster and is unique in that it encodes an activating receptor KIR3DS1, as well as multiple inhibitory KIR3DL1 allotypes. Because KIR3DS1 has been implicated in a number of diseases, we tested for the presence of KIR3DS1 variants that might affect its expression and activating capacity. Preliminary FACS analysis indicated that indeed some individuals with the KIR3DS1 allele showed no cell surface expression of the molecule. Sequencing analysis identified a variant with a complex deletion/substitution mutation in exon 4 (which encodes the D1 extracellular domain), resulting in a premature stop codon. We subsequently genotyped 3,960 unrelated individuals and determined the frequencies of this allele across geographically distinct world populations. The data indicate that the null KIR3DS1 allele is uncommon, arose on a single haplotype, and spread across geographically distinct populations.

    See More

  1. Keywords:

External Sources

  1. View Full Text
  2. DOI: 10.1007/s00251-007-0240-8
  3. View record in Web of Science®
  4. WOS: 000250205900006

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