Integrated genetic approaches identify the molecular mechanisms of Sox4 in early B-cell development: intricate roles for RAG1/2 and CK1ε

Blood. 2014 Jun 26;123(26):4064-76. doi: 10.1182/blood-2013-12-543801. Epub 2014 Apr 30.

Abstract

Commitment of hematopoietic stem cells to B lineage precursors and subsequent development of B lineage precursors into mature B cells is stringently controlled by stage-specific transcription factors. In this study, we used integrated genetic approaches and systematically determined the role of Sry-related high mobility group box (Sox) 4 and the underlying molecular mechanisms in early B-cell development. We found that Sox4 coordinates multilevel controls in the differentiation of early stage B cells. At the molecular level, Sox4 orchestrates a unique gene regulatory program, and its function was predominantly mediated through a conventional Sox4-binding motif as well as an unconventional GA-binding protein α chain binding motif. Our integrated gene network and functional analysis indicated that Sox4 functions as a bimodular transcription factor and ensures B lineage precursor differentiation through 2 distinct mechanisms. It positively induces gene rearrangements at immunoglobulin heavy chain gene loci by transcriptionally activating the Rag1 and Rag2 genes and negatively regulates Wnt signaling, which is critical for self-renewal, by inducing the expression of casein kinase 1 ε. Our findings illustrate that Sox4 mediates critical fine-tuning of the 2 opposing forces in early B-cell development and also set forth a model for characterization of critical genes whose deficiency, like Sox4 deficiency, is detrimental to this process.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • B-Lymphocytes / cytology
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism*
  • Casein Kinase 1 epsilon / biosynthesis*
  • Casein Kinase 1 epsilon / genetics
  • Casein Kinase 1 epsilon / immunology
  • Cell Differentiation / physiology*
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / immunology
  • DNA-Binding Proteins / metabolism*
  • Gene Expression Regulation, Enzymologic / physiology*
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / immunology
  • Homeodomain Proteins / metabolism*
  • Mice
  • Mice, Knockout
  • SOXC Transcription Factors / genetics
  • SOXC Transcription Factors / immunology
  • SOXC Transcription Factors / metabolism*
  • Transcription, Genetic / physiology
  • Wnt Signaling Pathway / physiology

Substances

  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Rag2 protein, mouse
  • SOXC Transcription Factors
  • Sox4 protein, mouse
  • RAG-1 protein
  • Casein Kinase 1 epsilon

Associated data

  • GEO/GSE50067