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Why? DB: Once you find an SNP that is associated with a disease, you often need to sequence that region of the genome to find the causative variation.
Second, the study of multiple populations, especially those from Africa, offers insights into genetic mechanisms and might help reduce the size of the region of causative variation.
The possibility also exists for a novel, causative variation in high LD with this haplotype/SNP not present in our analysis; no known variants of this type are present within the region.
To date, 5,732 pig QTL have been reported to the PigQTLdb database (http://www.animalgenome.org/QTLdb/) [13] for a total of 588 traits, but a very small proportion of these have materialized into causative variation associated with known genes [14].
Although we cannot rule out contributions of linked variation to the melanic phenotypes possessed by mice from New Hampshire and Alaska, given the likely effects of the Δ125kb and Q65term mutations and the known effects of null Agouti alleles in other taxa, it is very likely that these mutations represent the causative variation underlying these melanic phenotypes.
However, this SNP might be in LD with causative variation in other regions of the ORF.
Similar(37)
These SNPs are usually not the causative variations but surrogate markers indicating the region in which the causative mutation is harbored [24].
We attribute the latter to the fact that we have not yet found the causative variations, but depend on associations between close SNPs.
However, the causative variations remains poorly understood.
The polygenic character of these two traits makes it is difficult to identify the causative variations that are involved.
If some of them came from exons, they must be unique genes that may serve as causative variations for some traits.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com