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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner
Simone de Jong1, Iouri Chepelev, Esther Janson
1Department of Medical Genetics, University Medical Center Utrecht, Utrecht3584 CG, The Netherlands.
BMC Genomics
|September 7, 2012
Summary
The chromosome 17q21.31 inversion affects gene expression, with the H1 haplotype influencing specific genes like MAPT in the brain and blood. This finding may link the inversion to neurological diseases.
Area of Science:
- Genetics
- Neuroscience
Background:
- Chromosome 17q21.31 features a common inversion polymorphism impacting European ancestry populations.
- Two MAPT haplotypes (H1 and H2) reflect inversion status, with H1 linked to neurodegenerative diseases and H2 to 17q21.31 microdeletion syndrome.
Purpose of the Study:
- To investigate how the 17q21.31 inversion influences gene expression within this chromosomal region.
- To identify specific genes whose expression levels are altered by the inversion and associated haplotypes.
Main Methods:
- Analysis of gene expression in whole blood and various human brain regions.
- Correlation of gene expression patterns with the H1 and H2 haplotypes of the MAPT gene.
Main Results:
- The inversion significantly affects the expression of multiple genes in the 17q21.31 region, with tissue-specific effects observed.
- The H1 haplotype is associated with increased expression of LRRC37A4, PLEKH1M, and MAPT.
- Conversely, the H1 haplotype correlates with decreased expression of MGC57346, LRRC37A, and CRHR1.
Conclusions:
- The 17q21.31 inversion impacts the expression of several genes beyond MAPT, challenging previous research focus.
- These differentially expressed genes, influenced by inversion status, may play a role in neurological disease pathology.
- Tissue-specific expression patterns suggest a complex, localized contribution to disease mechanisms.
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