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Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B.
- Source :
-
European Journal of Human Genetics . Feb2013, Vol. 21 Issue 2, p240-242. 3p. 1 Diagram, 1 Chart. - Publication Year :
- 2013
-
Abstract
- Our study demonstrates that the genetic investigation of forkhead box O3A gene (FOXO3A), a validated human longevity gene, is greatly hampered by the fact that its exonic regions have 99% sequence homology with the FOXO3B pseudogene. If unaccounted for, this high degree of homology can cause serious genotyping or sequencing errors. Here, we present an experimental set-up that allows reliable data generation for the highly homologous regions and that can be used for the evaluation of assay specificity. Using this design, we exemplarily showed FOXO3A-specific results for two single-nucleotide polymorphisms (SNPs) (rs4945816 and rs4946936) that are significantly associated with longevity in our centenarian-control sample (Peach=0.0008). Because both SNPs are located in the 3′ untranslated region of FOXO3A, they could be of functional relevance for the longevity phenotype. Our experimental set-up can be used for reliable and reproducible data generation for further sequencing and genotyping studies of FOXO3A with the aim of discovering new SNPs of functional relevance. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 10184813
- Volume :
- 21
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- European Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 84922813
- Full Text :
- https://doi.org/10.1038/ejhg.2012.83