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  Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits

Choudhuri, A., Trompouki, E., Abraham, B. J., Colli, L. M., Kock, K. H., Mallard, W., et al. (2020). Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits. Nature Genetics, 52, 1333-1345. doi:10.1038/s41588-020-00738-2.

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Choudhuri et al. 2020.pdf (Verlagsversion), 5MB
 
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https://www.nature.com/articles/s41588-020-00738-2 (Verlagsversion)
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 Urheber:
Choudhuri, Avik1, Autor
Trompouki, Eirini2, Autor           
Abraham, Brian J1, Autor
Colli, Leandro M1, Autor
Kock, Kian Hong1, Autor
Mallard, William1, Autor
Yang, Min-Lee1, Autor
Vinjamur, Divya S1, Autor
Ghamari, Alireza1, Autor
Sporrij, Audrey1, Autor
Hoi, Karen1, Autor
Hummel, Barbara3, Autor
Boatman, Sonja1, Autor
Chan, Victoria1, Autor
Tseng, Sierra1, Autor
Nandakumar, Satish K1, Autor
Yang, Song1, Autor
Lichtig, Asher1, Autor
Superdock, Michael1, Autor
Grimes, Seraj N1, Autor
Bowman, Teresa V1, AutorZhou, Yi1, AutorTakahashi, Shinichiro1, AutorJoehanes, Roby1, AutorCantor, Alan B1, AutorBauer, Daniel E1, AutorGanesh, Santhi K1, AutorRinn, John1, AutorAlbert, Paul S1, AutorBulyk, Martha L1, AutorChanock, Stephen J1, AutorYoung, Richard A1, AutorZon, Leonard I1, Autor mehr..
Affiliations:
1External Organizations, ou_persistent22              
2Department of Cellular and Molecular Immunology, Max Planck Institute of Immunobiology and Epigenetics, Max Planck Society, ou_2243641              
3Max Planck Institute of Immunobiology and Epigenetics, Max Planck Society, ou_persistent22              

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 Zusammenfassung: 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 transcription factors (MTFs) and signaling transcription factors (STFs) responsive to extracellular signals. The majority of enhancer variants reside on STF and not MTF motifs, perturbing DNA binding by various STFs (BMP/TGF-β-directed SMADs or WNT-induced TCFs) and affecting target gene expression. Analyses of engineered human blood cells and expression quantitative trait loci verify that disrupted STF binding leads to altered gene expression. Our results propose that the majority of the RBC-trait-associated variants that reside on transcription-factor-binding sequences fall in STF target sequences, suggesting that the phenotypic variation of RBC traits could stem from altered responsiveness to extracellular stimuli.

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Sprache(n): eng - English
 Datum: 2020-11-23
 Publikationsstatus: Erschienen
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 Ort, Verlag, Ausgabe: -
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 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: DOI: 10.1038/s41588-020-00738-2
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Titel: Nature Genetics
  Andere : Nature Genet.
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: New York, NY : Nature America, Inc.
Seiten: - Band / Heft: 52 Artikelnummer: - Start- / Endseite: 1333 - 1345 Identifikator: ISSN: 1061-4036
CoNE: https://pure.mpg.de/cone/journals/resource/954925598609