Titlebook: Gene Regulatory Sequences and Human Disease; Nadav Ahituv Book 2012 Springer Science+Business Media, LLC 2012 Systems Biology

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The Contributions of , Noncoding Variation to Hirschsprung Disease,tral player in the development of HSCR, most frequently modified in effect by the contributions of risk alleles at other loci. This has been exemplified by the recent characterization of risk variants in a noncoding . regulatory element, establishing it as a model for the study of multigenic disorders.

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Gene Regulatory Elements, still remains primarily uncharted territory. Within this territory reside gene regulatory sequences that instruct genes when, where, and at what levels to turn on or off. There is abundant evidence, as described in this book, that nucleotide and epigenetic changes in these gene regulatory sequences

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The Hemoglobin Regulatory Regions,ne clusters direct the production of hemoglobin including the α-locus which contains the embryonic ζ gene and two adult α genes on chromosome 16. A second cluster, the β-globin locus located on chromosome 11, contains the ε, .γ, .γ, δ, and β genes. The globin genes are arranged from 5′ to 3′ accordi

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