Equine Severe Combined Immunodeficiency: a Defect in V(D)J Recombination and DNA-dependent Protein Kinase Activity

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1995 Dec 5

PMID 8524788

Citations 42

Authors

R Wiler

R Leber

B B Moore

L F VanDyk

L E Perryman

K Meek

Affiliations

Soon will be listed here.

Abstract

V(D)J rearrangement is the molecular mechanism by which an almost infinite array of specific immune receptors are generated. Defects in this process result in profound immunodeficiency as is the case in the C.B-17 SCID mouse or in RAG-1 (recombination-activating gene 1) or RAG-2 deficient mice. It has recently become clear that the V(D)J recombinase most likely consists of both lymphoid-specific factors and ubiquitously expressed components of the DNA double-strand break repair pathway. The deficit in SCID mice is in a factor that is required for both of these pathways. In this report, we show that the factor defective in the autosomal recessive severe combined immunodeficiency of Arabian foals is required for (i) V(D)J recombination, (ii) resistance to ionizing radiation, and (iii) DNA-dependent protein kinase activity.

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