Article
Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes.
PloS one - 1 Jan 2013
Razzaghian Hamid Reza, Forsberg Lars A, Prakash Kancherla Reddy, Przerada Szymon, Paprocka Hanna, Zywicka Anna, Westerman Maxwell P, Pedersen Nancy L, O'Hanlon Terrance P, Rider Lisa G, Miller Frederick W, Srutek Ewa, Jankowski Michal, Zegarski Wojciech, Piotrowski Arkadiusz, Absher Devin, Dumanski Jan P
Abstract excerpt
Although historically considered as junk-DNA, tandemly repeated sequence motifs can affect human phenotype. For example, variable number tandem repeats (VNTR) with embedded enhancers have been shown to regulate gene transcription. The post-zygotic variation is the presence of genetically distinct...
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