Unknown

Dataset Information

0

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.


ABSTRACT: Beta-defensins are small secreted antimicrobial and signaling peptides involved in the innate immune response of vertebrates. In humans, a cluster of at least 7 of these genes shows extensive copy number variation, with a diploid copy number commonly ranging between 2 and 7. Using a genetic mapping approach, we show that this cluster is at not 1 but 2 distinct genomic loci approximately 5 Mb apart on chromosome band 8p23.1, contradicting the most recent genome assembly. We also demonstrate that the predominant mechanism of change in beta-defensin copy number is simple allelic recombination occurring in the interval between the 2 distinct genomic loci for these genes. In 416 meiotic transmissions, we observe 3 events creating a haplotype copy number not found in the parent, equivalent to a germ-line rate of copy number change of approximately 0.7% per gamete. This places it among the fastest-changing copy number variants currently known.

SUBMITTER: Abu Bakar S 

PROVIDER: S-EPMC2630076 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature

altmetric image

Publications

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

Abu Bakar Suhaili S   Hollox Edward J EJ   Armour John A L JA  

Proceedings of the National Academy of Sciences of the United States of America 20090108 3


Beta-defensins are small secreted antimicrobial and signaling peptides involved in the innate immune response of vertebrates. In humans, a cluster of at least 7 of these genes shows extensive copy number variation, with a diploid copy number commonly ranging between 2 and 7. Using a genetic mapping approach, we show that this cluster is at not 1 but 2 distinct genomic loci approximately 5 Mb apart on chromosome band 8p23.1, contradicting the most recent genome assembly. We also demonstrate that  ...[more]

Similar Datasets

| S-SCDT-10_1038-S44319-024-00122-9 | biostudies-other
| S-EPMC7341319 | biostudies-literature
| S-EPMC10290333 | biostudies-literature
| S-EPMC95172 | biostudies-literature
| S-EPMC9467946 | biostudies-literature
| S-EPMC7961454 | biostudies-literature
| S-EPMC4316202 | biostudies-literature
| S-EPMC2575182 | biostudies-literature
| S-EPMC4491234 | biostudies-literature
| S-EPMC6591191 | biostudies-literature