title: A new apparently functional IGVK gene (VkLa) present in some individuals only.
abstract: We describe a hitherto unknown functional IGKV gene, VkLa, belonging to the IGKV1 subgroup with exon 2 having only 94% similarity to the closest known IGKV gene, 1-13/1D-13 (L4/L18a). Genomic DNA sequences spanning from 5' of the decanucleotide box to 3' of the heptamer (649 bp) were cloned and sequenced from four individuals. The new gene encodes the conserved amino acids in the exons and contains no apparent defects in known regulatory intron sequences such as pd-box, dc-box, TATA-box, CCCT-elements, splice-sequences, initiation codon, and heptamer sequence. VkLa is therefore potentially functional and, correspondingly, we found transcripts of properly rearranged VkLa with somatical hypermutations. VkLa was found in 12 of 57 (21%) healthy Caucasians by a nested polymerase chain reaction and subsequent sequencing of exon 2. This finding shows that there is more inter-individual variation in the available IGKV gene repertoire than was hitherto assumed. Finally, we describe a minor correction in the IGKV1D-43 (L23) gene sequence.
authors.affiliation: Tissue Typing Laboratory KI 7631 and Laboratory for Medical Immunology 7544, National University Hospital, Rigshospitalet, Tagensvej 20, 2200 Copenhagen N, Denmark.
authors.forename: L
authors.initials: L
authors.lastname: Juul
authors.forename: L
authors.initials: L
authors.lastname: Hougs
authors.forename: T
authors.initials: T
authors.lastname: Barington
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D004247:DNA; D015870:Gene Expression; D005787:Gene Frequency; D005803:Genes, Immunoglobulin; D006801:Humans; D007147:Immunoglobulin Light Chains / Q000235:genetics; D007136:Immunoglobulins / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family
chemical_list: C014609:IgK; D007147:Immunoglobulin Light Chains; D007136:Immunoglobulins; D004247:DNA