The Vχ genes of the L regions and the repertoire of Vχ gene sequences in the human germ line

Abstract

Only 14 of the 25 V_χ genes and pseudogenes had been found before as parts of the L regions. The cloning and linking described in the accompanying report allowed us now to assign to Lp or Ld some V_χ genes which had been found before on scattered clones. In addition the sequences of several still unknown genes are reported here, thus completing the publication of the V_χ genes of the x locus as far as they are potentially functional or have only one or two 1-bp defects. Of the V_χ genes of the K locus, 32 are potentially functional, 16 have minor defects, 3 have both potentially functional and slightly defective alleles and 25 are pseudogenes which amounts to a repertoire of 76 V_χ-related gene sequences. The V_χ genes of the L regions are, within the subgroups, particularly similar to each other, which is in part due to common evolutionary origins and in part caused by gene conversion-like events. One donor-acceptor pair could be clearly identified, since converted and not-converted alleles of the acceptor gene were found. In other cases the duplicates of the converted genes served as non-converted controls.