Localization, analysis and evolution of transposed human immunoglobulin VK genes

The localization of Vκ gene regions to chromosome 2, on which the κ locus is located, and to other chromosomes is described. The Vκ genes that have been transposed to other chromosomes are called orphons. The finding of two new Vκ genes on chromosome 22 is reported. A Vκ II gene of this region and two Vκ I genes of the Chr 1 and the cos 118 regions were sequenced. The two Vκ I orphon sequences and two others that had been determined previously were 97.5% identical, indicating that they may have evolved from a common ancestor by amplification. A model of the evolution of the human Vκ orphons is discussed. Author Keywords: Human-rodent cell hybrids; cosmids; restriction maps; ligation artifacts; orphon; recombinant DNA Abbreviations: aa, amino acid(s); bp, base pair(s); Chr1, Vκ gene-containing regions of chromosomes 1; Chr22, Vκ gene-containing regions of chromosomes 22; FR, framework regions; CDR, complementary determining regions; kb, kilo-base(s) or 1000 bp; L, L′, parts of a leader gene segment; m219-1, the first subclone of the cosmid clone cos 219; orphon, Vκ gene outside the κ locus on chromosome 2pl2; SSC, 0.15 M NaCl, 0.015 M Na3-citrate, pH 7.6; V, variable gene segments; J, joining gene segments; C, constant gene segments; Vκ I to Vκ IV, variable gene segments of immunoglobulin light chains of the κ type belonging to subgroups I to IV; for reasons of simplicity Vκ gene segments are generally called Vκ gene