A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation.

摘要: The equine SCID defect is more severe than its murine counterpart in that foals are incapable of forming either coding or signal joints, whereas mice manifest normal joint formation. To determine the basis this difference and whether DNA-dependent kinase, catalytic subunit (DNA-PK(CS)), involved formation, DNA-PK(CS) transcripts were cloned sequenced from cell lines. In mutant allele, a frame-shift mutation truncates protein N terminal domain with homology to phosphatidylinositol 3-kinase family resulting complete absence full length accounting for kinase-negative phenotype these cells; allows some expression. expression explains SCID, definition as demonstrates required both