Journal article
Selection of Phototransduction Genes in Homo sapiens
Investigative ophthalmology & visual science, Vol.54(8), pp.5489-5496
08/13/2013
DOI: 10.1167/iovs.12-11454
PMCID: PMC3743458
PMID: 23868983
Abstract
We investigated the evidence of recent positive selection in the human phototransduction system at single nucleotide polymorphism (SNP) and gene level. SNP genotyping data from the International HapMap Project for European, Eastern Asian, and African populations was used to discover differences in haplotype length and allele frequency between these populations. Numeric selection metrics were computed for each SNP and aggregated into gene-level metrics to measure evidence of recent positive selection. The level of recent positive selection in phototransduction genes was evaluated and compared to a set of genes shown previously to be under recent selection, and a set of highly conserved genes as positive and negative controls, respectively. Six of 20 phototransduction genes evaluated had gene-level selection metrics above the 90th percentile: RGS9, GNB1, RHO, PDE6G, GNAT1, and SLC24A1. The selection signal across these genes was found to be of similar magnitude to the positive control genes and much greater than the negative control genes. There is evidence for selective pressure in the genes involved in retinal phototransduction, and traces of this selective pressure can be demonstrated using SNP-level and gene-level metrics of allelic variation. We hypothesize that the selective pressure on these genes was related to their role in low light vision and retinal adaptation to ambient light changes. Uncovering the underlying genetics of evolutionary adaptations in phototransduction not only allows greater understanding of vision and visual diseases, but also the development of patient-specific diagnostic and intervention strategies.
Details
- Title: Subtitle
- Selection of Phototransduction Genes in Homo sapiens
- Creators
- Mark Christopher - Institute for Vision Research, University of Iowa, Iowa City, Iowa, USATodd E ScheetzRobert F MullinsMichael D Abràmoff
- Resource Type
- Journal article
- Publication Details
- Investigative ophthalmology & visual science, Vol.54(8), pp.5489-5496
- Publisher
- United States
- DOI
- 10.1167/iovs.12-11454
- PMID
- 23868983
- PMCID
- PMC3743458
- ISSN
- 0146-0404
- eISSN
- 1552-5783
- Grant note
- NEI-EY018825 / NEI NIH HHS R01 EY017066 / NEI NIH HHS R01 EY019112 / NEI NIH HHS R01 EY018825 / NEI NIH HHS R01 EY018853 / NEI NIH HHS NEI-EY017066 / NEI NIH HHS R01 EY017451 / NEI NIH HHS NEI-EY017451 / NEI NIH HHS I01 CX000119 / CSRD VA
- Language
- English
- Date published
- 08/13/2013
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Ophthalmology and Visual Sciences
- Record Identifier
- 9983806382402771
Metrics
16 Record Views