Characterization of a weakly expressed KIR2DL1 variant reveals a novel upstream promoter that controls KIR expression.

ABSTRACT: Members of the human KIR (killer cell immunoglobulin-like receptor) class I major histocompatibility complex receptor gene family contain multiple promoters that determine the variegated expression of KIR on natural killer cells. In order to identify novel genetic alterations associated with decreased KIR expression, a group of donors was characterized for KIR gene content, transcripts and protein expression. An individual with a single copy of the KIR2DL1 gene but a very low level of gene expression was identified. The low expression phenotype was associated with a single-nucleotide polymorphism (SNP) that created a binding site for the inhibitory ZEB1 (Zinc finger E-box-binding homeobox 1) transcription factor adjacent to a c-Myc binding site previously implicated in distal promoter acti

SUBMITTER: Wright PW 

PROVIDER: S-EPMC4208966 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature