Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

ABSTRACT:

Background

Mutations in recombination-activating gene (RAG) 1 and RAG2 are associated with a broad range of clinical and immunologic phenotypes in human subjects.

Objective

Using a flow cytometry-based assay, we aimed to measure the recombinase activity of naturally occurring RAG2 mutant proteins and to correlate our results with the severity of the clinical and immunologic phenotype.

Methods

Abelson virus-transformed Rag2^-/- pro-B cells engineered to contain an inverted green fluorescent protein (GFP) cassette flanked by recombination signal sequences were transduced with retroviruses encoding either wild-type or 41 naturally occurring RAG2 variants. Bicistronic vectors were used to introduce compound heterozygous RAG2 variants. The percentage of GFP-expre

SUBMITTER: Tirosh I 

PROVIDER: S-EPMC6295349 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature