NDLI: Selection of Phototransduction Genes in Homo sapiens.

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Selection of Phototransduction Genes in Homo sapiens.

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Selection of Phototransduction Genes in Homo sapiens.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Christopher, Mark Scheetz, Todd E. Abràmoff, Michael D. Mullins, Robert F.
Description	Country affiliation: United States Author Affiliation: Christopher M ( Institute for Vision Research, University of Iowa, Iowa City, Iowa, USA.)
Abstract	PURPOSE: We investigated the evidence of recent positive selection in the human phototransduction system at single nucleotide polymorphism (SNP) and gene level. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
ISSN	01460404
e-ISSN	15525783
DOI	10.1167/iovs.12-11454
Journal	Investigative Opthalmology & Visual Science
Issue Number	8
Volume Number	54
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2013-08-13
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Genes Genetics Genetics, Population Genome, Human Light Signal Transduction Polymorphism, Single Nucleotide Selection, Genetic Gene Frequency Genotype Haplotypes Comparative Study Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, Non-p.h.s. Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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