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PMID: 2109696 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Transposition of human immunoglobulin V kappa genes within the same chromosome and the mechanism of their amplification.

The EMBO journal ·Vol. 9 ·No. 5 ·1990-05-00 ·Pages 1535-42

Zimmer FJ, Hameister H, Schek H, Zachau HG

Abstract

The variable, joining and constant gene segments of the human immunoglobulin kappa locus (V kappa, J kappa and C kappa) are located on the short arm of chromosome 2 at 2p11-2p12. Here we describe a cluster of 11 V kappa genes on the long arm of chromosome 2 at 2cen-q11. By pulsed-field gel electrophoresis, cosmid cloning and DNA sequencing the cluster was shown to consist of four amplified units (amplicons). The amplicons, each 110-160 kb in size, are organized within 650 kb as an array of inverted repeats with short stretches of non-amplified DNA in between. Cloning and sequencing of three different joints between amplified and non-amplified DNA revealed the existence of parts of Alu repeats at each of the analysed joints. It is suggested that during evolution a group of five V kappa genes was transposed from the short to the long arm of chromosome 2 by a pericentric inversion. Three of the five V kappa genes were then amplified in two subsequent steps to yield the structure found in the majority of the present day population. The possible relation of this structure to a pericentric inversion of chromosome 2 that is seen cytogenetically in a small fraction of today's population is discussed.

MeSH Terms
Base Sequence Chromosome Mapping Chromosomes, Human, Pair 2 Cloning, Molecular Electrophoresis, Agar Gel Gene Amplification Gene Rearrangement Genes, Immunoglobulin/genetics Genome, Human Humans Immunoglobulin kappa-Chains/genetics Molecular Sequence Data Restriction Mapping Sequence Homology, Nucleic Acid
Chemicals
Immunoglobulin kappa-Chains
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Zimmer F J
Institut für Physiologische Chemie, Universität München, Ulm, FRG.
Hameister H
Schek H
Zachau H G
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Article Info
Journal
The EMBO journal
Abbr.
EMBO J
ISSN
0261-4189
Published
1990-05-00
Pages
1535-42
Language
English
Region
England
NLM ID
8208664
PMCID
PMC551847
Subset
IM
Databases
GENBANK
X51875, X51876, X51877, X51878, X51888, X51889
External Links
PubMed source PMC Full Text View journal details
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