Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1999-11-4
pubmed:databankReference
pubmed:abstractText
Human Ig heavy chain constant regions are encoded by a cluster of genes, the IGHC locus, on 14q32.3. Several forms of IGHC deletions and duplications spanning one to five genes have been described in different populations, with frequencies of 1.5-3.5% and 4.5-44%, respectively. Despite the common occurrence of these gene rearrangements, little is known about the breakpoint sites; evidence obtained from deletions in the IGHC locus and in other regions of the human genome suggests that they preferentially occur in highly homologous regions and might be favored by a variety of recombinogenic signals. We present here a detailed study of three homozygotes for the most common type of IGHC multiple gene deletion, spanning the A1-GP-G2-G4-E genes. Using a combination of Southern blotting, long-range PCR, and automated sequencing, the unequal crossover events of all of the six studied haplotypes have been mapped to a region of approximately 2 kb with almost complete homology between EP1-A1 and E-A2, flanked by two minisatellites. These results are consistent with the hypothesis that segments of complete homology may be required for efficient homologous recombination in humans. The possible role of minisatellites as recombination signals is inferred, in agreement with current knowledge.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0022-1767
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
163
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
4392-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:10510380-Blotting, Southern, pubmed-meshheading:10510380-Chromosome Mapping, pubmed-meshheading:10510380-Crossing Over, Genetic, pubmed-meshheading:10510380-Gene Deletion, pubmed-meshheading:10510380-Gene Rearrangement, B-Lymphocyte, Heavy Chain, pubmed-meshheading:10510380-Homozygote, pubmed-meshheading:10510380-Humans, pubmed-meshheading:10510380-Immunoglobulin Heavy Chains, pubmed-meshheading:10510380-Immunoglobulin alpha-Chains, pubmed-meshheading:10510380-Immunoglobulin epsilon-Chains, pubmed-meshheading:10510380-Immunoglobulin gamma-Chains, pubmed-meshheading:10510380-Molecular Sequence Data, pubmed-meshheading:10510380-Multigene Family, pubmed-meshheading:10510380-Polymerase Chain Reaction, pubmed-meshheading:10510380-Restriction Mapping, pubmed-meshheading:10510380-Sequence Analysis, DNA
pubmed:year
1999
pubmed:articleTitle
A recurrent breakpoint in the most common deletion of the Ig heavy chain locus (del A1-GP-G2-G4-E).
pubmed:affiliation
Dipartimento di Genetica, Biologia e Biochimica, Università di Torino, Italy. a.brusco@cios.to.cnr.it
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't