BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency

Transcriptional programs guiding lymphocyte differentiation depend on precise expression and timing of transcription factors (TFs). BACH2 is a TF essential for T- and B-lymphocytes and is associated with an archetypal super-enhancer (SE). Single nucleotide variants in the BACH2 locus associate with...

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Udgivet i:Nat Immunol
Main Authors: Afzali, Behdad, Grönholm, Juha, Vandrovcova, Jana, O’Brien, Charlotte, Sun, Hong-Wei, Vanderleyden, Ine, Davis, Fred P, Khoder, Ahmad, Zhang, Yu, Hegazy, Ahmed N, Villarino, Alejandro V, Palmer, Ira W, Kaufman, Joshua, Watts, Norman R, Kazemian, Majid, Kamenyeva, Olena, Keith, Julia, Sayed, Anwar, Kasperaviciute, Dalia, Mueller, Michael, Hughes, Jason D., Fuss, Ivan J., Sadiyah, Mohammed F, Montgomery-Recht, Kim, McElwee, Joshua, Restifo, Nicholas P, Strober, Warren, Linterman, Michelle A, Wingfield, Paul T, Uhlig, Holm H, Roychoudhuri, Rahul, Aitman, Timothy J., Kelleher, Peter, Lenardo, Michael J, O’Shea, John J, Cooper, Nichola, Laurence, Arian DJ
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593426/
https://ncbi.nlm.nih.gov/pubmed/28530713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ni.3753
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