Biology Faculty Articles

Title

A Mutation in KIR3DS1 That Results in Truncation and Lack of Cell Surface Expression

Document Type

Article

Publication Date

10-2007

Publication Title

Immunogenetics

Keywords

KIR3DS1, Truncation, Cell surface expression, KIR gene polymorphism, KIR3DS/L1 locus, KIR expression, Human Genome Diversity Panel (HGDP)

ISSN

0093-7711

Volume

59

Issue/No.

10

First Page

823

Last Page

829

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.

Comments

©Springer-Verlag 2007

Additional Comments

National Cancer Institute contract #: N01-CO-12400

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015

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