title: The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination.
abstract: Pre-B and pre-T cell lines from mutant mice with severe combined immune deficiency (scid mice) were transfected with plasmids that contained recombination signal sequences of antigen receptor gene elements (V, D, and J). Recovered plasmids were tested for possible recombination of signal sequences and/or the adjacent (coding) sequences. Signal ends were joined, but recombination was abnormal in that half of the recombinants had lost nucleotides from one or both signals. Coding ends were not joined at all in either deletional or inversional V(D)J recombination reactions. However, coding ends were able to participate in alternative reactions. The failure of coding joint formation in scid pre-B and pre-T cells appears sufficient to explain the absence of immunoglobulin or T cell receptor production in scid mice.
authors.affiliation: Laboratory of Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892.
authors.forename: M R
authors.initials: MR
authors.lastname: Lieber
authors.forename: J E
authors.initials: JE
authors.lastname: Hesse
authors.forename: S
authors.initials: S
authors.lastname: Lewis
authors.forename: G C
authors.initials: GC
authors.lastname: Bosma
authors.forename: N
authors.initials: N
authors.lastname: Rosenberg
authors.forename: K
authors.initials: K
authors.lastname: Mizuuchi
authors.forename: M J
authors.initials: MJ
authors.lastname: Bosma
authors.forename: M
authors.initials: M
authors.lastname: Gellert
mesh_terms: D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D007446:Chromosome Inversion; D004247:DNA / Q000032:analysis; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D051379:Mice; D010957:Plasmids; D011995:Recombination, Genetic; D014162:Transfection
chemical_list: D004247:DNA