scholarly journals Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

2020 ◽  
Vol 5 (10) ◽  
pp. 1823-1827 ◽  
Author(s):  
J. Robert Harkness ◽  
Glenda M. Beaman ◽  
Keng W. Teik ◽  
Sangeet Sidhu ◽  
John A. Sayer ◽  
...  
2019 ◽  
Vol 18 (6) ◽  
pp. 999-1010
Author(s):  
Aurora Badaloni ◽  
Filippo Casoni ◽  
Laura Croci ◽  
Francesca Chiara ◽  
Antonella Bizzoca ◽  
...  

2008 ◽  
Vol 20 (4) ◽  
pp. 221-227 ◽  
Author(s):  
Kara Lukin ◽  
Scott Fields ◽  
Jacqueline Hartley ◽  
James Hagman

2021 ◽  
Author(s):  
Shahan Mamoor

Breast cancer affects women at relatively high frequency (1). We mined published microarray datasets (2, 3) to determine in an unbiased fashion and at the systems level genes most differentially expressed in the primary tumors of patients with breast cancer. We report here significant differential expression of the gene encoding early B-cell factor 1, EBF1, when comparing primary tumors of the breast to the tissue of origin, the normal breast. EBF1 mRNA was present at significantly lower quantities in tumors of the breast as compared to normal breast tissue. Analysis of human survival data revealed that expression of EBF1 in primary tumors of the breast was correlated with overall survival in patients with luminal A cancers, demonstrating a relationship between primary tumor expression of a differentially expressed gene and patient survival outcomes influenced by molecular subtype. EBF1 may be of relevance to initiation, maintenance or progression of cancers of the female breast.


2004 ◽  
Vol 199 (12) ◽  
pp. 1689-1700 ◽  
Author(s):  
Christopher S. Seet ◽  
Rachel L. Brumbaugh ◽  
Barbara L. Kee

The basic helix-loop-helix transcription factors encoded by the E2A gene function at the apex of a transcriptional hierarchy involving E2A, early B cell factor (EBF), and Pax5, which is essential for B lymphopoiesis. In committed B lineage progenitors, E2A proteins have also been shown to regulate many lineage-associated genes. Herein, we demonstrate that the block in B lymphopoiesis imposed by the absence of E2A can be overcome by expression of EBF, but not Pax5, indicating that EBF is the essential target of E2A required for development of B lineage progenitors. Our data demonstrate that EBF, in synergy with low levels of alternative E2A-related proteins (E proteins), is sufficient to promote expression of most B lineage genes. Remarkably, however, we find that E2A proteins are required for interleukin 7–dependent proliferation due, in part, to a role for E2A in optimal expression of N-myc. Therefore, high levels of E protein activity are essential for the activation of EBF and N-myc, whereas lower levels of E protein activity, in synergy with other B lineage transcription factors, are sufficient for expression of most B lineage genes.


2011 ◽  
Vol 232 (1-2) ◽  
pp. 41-50 ◽  
Author(s):  
Anne H. Tran ◽  
Alexandra Berger ◽  
Gillian E. Wu ◽  
Barbara L. Kee ◽  
Christopher J. Paige

2001 ◽  
Vol 194 (5) ◽  
pp. 645-656 ◽  
Author(s):  
Peter Goebel ◽  
Noel Janney ◽  
Joaquín R. Valenzuela ◽  
William J. Romanow ◽  
Cornelis Murre ◽  
...  

Accessibility of immunoglobulin (Ig) gene segments to V(D)J recombination is highly regulated and is normally only achieved in B cell precursors. We previously showed that ectopic expression of E2A or early B cell factor (EBF) with recombination activating gene (RAG) induces rearrangement of IgH and IgL genes in nonlymphoid cells. VκI genes throughout the locus were induced to rearrange after transfection with E2A, suggesting that the entire Vκ locus was accessible. However, here we show that Ig loci are not opened globally but that recombination is localized. Gene families are interspersed in the DH, Vκ, and Vλ loci, and we show that certain families and individual genes undergo high levels of recombination after ectopic expression of E2A or EBF, while other families within the same locus are not induced to rearrange. Furthermore, in some families, induction of germline transcription correlates with the level of induced recombination, while in others there is no correlation, suggesting that recombination is not simply initiated by induction of germline transcription. The induced repertoire seen at 24 hours does not change significantly over time indicating the absence of many secondary rearrangements and also suggesting a direct targeting mechanism. We propose that accessibility occurs in a local manner, and that binding sites for factors facilitating accessibility are therefore likely to be associated with individual gene segments.


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