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Table of Contents
Vol. 110, No. 1-4, 2005
Issue release date: July 2005
Section title: Retrotransposable Elements, Chromosomes and Chromatin
Cytogenet Genome Res 110:193–202 (2005)
(DOI:10.1159/000084952)

Polymorphic Alu insertions within the Major Histocompatibility Complex class I genomic region: a brief review

Kulski J.K. · Dunn D.S.
Centre for Bioinformatics and Biological Computing, School of Information Technology, Murdoch University, Murdoch (Western Australia)

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Article / Publication Details

First-Page Preview
Abstract of Retrotransposable Elements, Chromosomes and Chromatin

Published online: July 21, 2005
Issue release date: July 2005

Number of Print Pages: 10
Number of Figures: 1
Number of Tables: 6

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Most polymorphic Alu insertions (POALINs) belong to a subgroup of the Alu multicopy retrotransposon family of short interspersed nucleotide elements (SINEs) that are categorized as AluYb8 and AluYa5. The number of AluYb8/AluYa5 members (∼4,492 copies) is significantly less than the ∼one million fixed Alu copies per human genome. We have studied the presence of POALINs within the Major Histocompatibility Complex (MHC) class I region on the short arm of chromosome 6 (6p21.3) because this region has a high gene density, many genes with immune system functions, large sequence variations and diversity, duplications and redundancy, and a strong association with more than 100 different diseases. Since little is known about POALINs within the MHC genomic region, we undertook to identify some of the members of the AluYb8/AluYa5 subfamily and to study their frequency of distribution and genetic characteristics in different populations. As a result of our comparative genomic analyses, we identified the insertion sites for five POALINs distributed within the MHC class I region. This brief review outlines the locations of the insertions and sequence features of the five MHC POALINs, their single site and haplotype frequencies in different geographic populations, and their association with different HLA class I genes and disease. We show that the MHC POALINs have a potential value as lineage and linkage markers for the study of human population genetics, disease associations, genomic diversity and evolution.   

© 2005 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Retrotransposable Elements, Chromosomes and Chromatin

Published online: July 21, 2005
Issue release date: July 2005

Number of Print Pages: 10
Number of Figures: 1
Number of Tables: 6

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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