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Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data
- Source :
- Human Genetics
- Publication Year :
- 2012
- Publisher :
- Springer Science and Business Media LLC, 2012.
-
Abstract
- We have investigated whether regions of the genome showing signs of positive selection in scans based on haplotype structure also show evidence of positive selection when sequence-based tests are applied, whether the target of selection can be localized more precisely, and whether such extra evidence can lead to increased biological insights. We used two tools: simulations under neutrality or selection, and experimental investigation of two regions identified by the HapMap2 project as putatively selected in human populations. Simulations suggested that neutral and selected regions should be readily distinguished and that it should be possible to localize the selected variant to within 40 kb at least half of the time. Re-sequencing of two ~300 kb regions (chr4:158Mb and chr10:22Mb) lacking known targets of selection in HapMap CHB individuals provided strong evidence for positive selection within each and suggested the micro-RNA gene hsa-miR-548c as the best candidate target in one region, and changes in regulation of the sperm protein gene SPAG6 in the other. Electronic supplementary material The online version of this article (doi:10.1007/s00439-011-1111-9) contains supplementary material, which is available to authorized users.
- Subjects :
- Genotype
Genome Scan
Computational biology
HapMap Project
Biology
Genome
Models, Biological
03 medical and health sciences
0302 clinical medicine
Genetics
Humans
Genetics(clinical)
International HapMap Project
Selection, Genetic
Gene
Genetics (clinical)
Selection (genetic algorithm)
Original Investigation
030304 developmental biology
0303 health sciences
Natural selection
Polymorphism, Genetic
Genome, Human
Haplotype
Sequence Analysis, DNA
Haplotypes
Human genome
030217 neurology & neurosurgery
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Human Genetics
- Accession number :
- edsair.doi.dedup.....5125cf6e8d70e1531aad2c8254b565f4