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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Hollox, E. J. Barber, J. C. K. Armour, J. A. L. |
| Description | Country affiliation: United kingdom Author Affiliation: Hollox EJ ( Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham, United Kingdom. ed.hollox@nottingham.ac.uk) |
| Abstract | Using a combination of multiplex amplifiable probe hybridization and semiquantitative fluorescence in situ hybridization (SQ-FISH), we analyzed DNA copy number variation across chromosome band 8p23.1, a region that is frequently involved in chromosomal rearrangements. We show that a cluster of at least three antimicrobial beta-defensin genes (DEFB4, DEFB103, and DEFB104) at 8p23.1 are polymorphic in copy number, with a repeat unit >/=240 kb long. Individuals have 2-12 copies of this repeat per diploid genome. By segregation, microsatellite dosage, and SQ-FISH chromosomal signal intensity ratio analyses, we deduce that individual chromosomes can have one to eight copies of this repeat unit. Chromosomes with seven or eight copies of this repeat unit are identifiable by cytogenetic analysis as a previously described 8p23.1 euchromatic variant. Analysis of RNA from different individuals by semiquantitative reverse-transcriptase polymerase chain reaction shows a significant correlation between genomic copy number of DEFB4 and levels of its messenger RNA (mRNA) transcript. The peptides encoded by these genes are potent antimicrobial agents, especially effective against clinically important pathogens, such as Pseudomonas aeruginosa and Staphylococcus aureus, and DEFB4 has been shown to act as a cytokine linking the innate and adaptive immune responses. Therefore, a copy number polymorphism involving these genes, which is reflected in mRNA expression levels, is likely to have important consequences for immune system function. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 3 |
| Volume Number | 73 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 2003-09-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Gene Dosage Multigene Family Beta-defensins Genetics Alleles Dna Probes Genetic Variation In Situ Hybridization, Fluorescence Microsatellite Repeats Molecular Sequence Data Pedigree Reverse Transcriptase Polymerase Chain Reaction Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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