Journal article
Polymorphic Alu insertions within the Major Histocompatibility Complex class I genomic region: a brief review
Cytogenetic and Genome Research, Vol.110(1-4), pp.193-202
2005
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.
Details
- Title
- Polymorphic Alu insertions within the Major Histocompatibility Complex class I genomic region: a brief review
- Authors/Creators
- J.K. Kulski (Author/Creator) - Murdoch UniversityD.S. Dunn (Author/Creator)
- Publication Details
- Cytogenetic and Genome Research, Vol.110(1-4), pp.193-202
- Publisher
- S. Karger AG
- Identifiers
- 991005542662207891
- Copyright
- © 2005 S. Karger AG .
- Murdoch Affiliation
- School of Information Technology
- Language
- English
- Resource Type
- Journal article
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Source: InCites
Metrics
25 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Citation topics
- 1 Clinical & Life Sciences
- 1.6 Immunology
- 1.6.607 MHC Diversity
- Web Of Science research areas
- Cell Biology
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics