Article
Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits.
Nature genetics - 1 Dec 2020
Choudhuri Avik, Trompouki Eirini, Abraham Brian J, Colli Leandro M, Kock Kian Hong, Mallard William, Yang Min-Lee, Vinjamur Divya S, Ghamari Alireza, Sporrij Audrey, Hoi Karen, Hummel Barbara, Boatman Sonja, Chan Victoria, Tseng Sierra, Nandakumar Satish K, Yang Song, Lichtig Asher, Superdock Michael, Grimes Seraj N, Bowman Teresa V, Zhou Yi, Takahashi Shinichiro, Joehanes Roby, Cantor Alan B, Bauer Daniel E, Ganesh Santhi K, Rinn John, Albert Paul S, Bulyk Martha L, Chanock Stephen J, Young Richard A, Zon Leonard I
Abstract excerpt
Genome-wide association studies identify genomic variants associated with human traits and diseases. Most trait-associated variants are located within cell-type-specific enhancers, but the molecular mechanisms governing phenotypic variation are less well understood. Here, we show that many enhancer variants associated with red blood cell (RBC) traits map to enhancers that are co-bound by lineage-specific master...
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