Joan Boyes
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View article: Excised DNA circles from V(D)J recombination promote relapsed leukaemia
Excised DNA circles from V(D)J recombination promote relapsed leukaemia Open
View article: <i>NUDCD3</i> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
<i>NUDCD3</i> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome Open
Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 11 affected patients across four consanguineous kindreds, we detected homozygosity for a single delet…
View article: YY1 Binding to Regulatory Elements That Lack Enhancer Activity Promotes Locus Folding and Gene Activation
YY1 Binding to Regulatory Elements That Lack Enhancer Activity Promotes Locus Folding and Gene Activation Open
Enhancers activate their cognate promoters over huge distances but how enhancer/promoter interactions become established is not completely understood. There is strong evidence that cohesin-mediated loop extrusion is involved but this does …
View article: Temporal analyses reveal a pivotal role for sense and antisense enhancer RNAs in coordinate immunoglobulin lambda locus activation
Temporal analyses reveal a pivotal role for sense and antisense enhancer RNAs in coordinate immunoglobulin lambda locus activation Open
Transcription enhancers are essential activators of V(D)J recombination that orchestrate non-coding transcription through complementary, unrearranged gene segments. How transcription is coordinately increased at spatially distinct promoter…
View article: YY1 Binding to Regulatory Elements that Lack Enhancer Activity Promotes Locus Folding and Gene Activation
YY1 Binding to Regulatory Elements that Lack Enhancer Activity Promotes Locus Folding and Gene Activation Open
Enhancers activate their cognate promoters over huge distances but how enhancer/promoter interactions become established is not completely understood. There is strong evidence that cohesin-mediated loop extrusion is involved but this does …
View article: A bovine antibody possessing an ultralong complementarity-determining region CDRH3 targets a highly conserved epitope in sarbecovirus spike proteins
A bovine antibody possessing an ultralong complementarity-determining region CDRH3 targets a highly conserved epitope in sarbecovirus spike proteins Open
Broadly neutralizing antibodies have huge potential as novel antiviral therapeutics due to their ability to recognize highly conserved epitopes that are seldom mutated in viral variants. A subset of bovine antibodies possess an ultralong c…
View article: An Ultralong Bovine CDRH3 that Targets a Conserved, Cryptic Epitope on SARS-CoV and SARS-CoV-2
An Ultralong Bovine CDRH3 that Targets a Conserved, Cryptic Epitope on SARS-CoV and SARS-CoV-2 Open
The ability of broadly neutralising antibodies to target conserved epitopes gives them huge potential as antibody-based therapeutics, particularly in the face of constant viral antigen evolution. Certain bovine antibodies are highly adept …
View article: Broadly Neutralizing Bovine Antibodies: Highly Effective New Tools against Evasive Pathogens?
Broadly Neutralizing Bovine Antibodies: Highly Effective New Tools against Evasive Pathogens? Open
Potent antibody-mediated neutralization is critical for an organism to combat the vast array of pathogens it will face during its lifetime. Due to the potential genetic diversity of some viruses, such as HIV-1 and influenza, standard neutr…
View article: The ESC: The Dangerous By-Product of V(D)J Recombination
The ESC: The Dangerous By-Product of V(D)J Recombination Open
V(D)J recombination generates antigen receptor diversity by mixing and matching individual variable (V), diversity (D), and joining (J) gene segments. An obligate by-product of many of these reactions is the excised signal circle (ESC), ge…
View article: Genome instability triggered by the V(D)J recombination by-product
Genome instability triggered by the V(D)J recombination by-product Open
A newly identified process by which mistargeted V(D)J recombination could cause genome instability in childhood leukemia has been discovered. In this mechanism, called cut-and-run, the excised DNA by-products of V(D)J recombination are re-…
View article: Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency
Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency Open
Proteins expressed by recombination activating genes 1 and 2 (RAG1/2) are essential in the process of V(D)J recombination that leads to generation of the T and B cell repertoires. Clinical and immunological phenotypes of patients with RAG …
View article: Cut-and-Run: A Distinct Mechanism by which V(D)J Recombination Causes Genome Instability
Cut-and-Run: A Distinct Mechanism by which V(D)J Recombination Causes Genome Instability Open
V(D)J recombination is essential to generate antigen receptor diversity but is also a potent cause of genome instability. Many chromosome alterations that result from aberrant V(D)J recombination involve breaks at single recombination sign…
View article: A novel RAG1 mutation reveals a critical in vivo role for HMGB1/2 during V(D)J recombination
A novel RAG1 mutation reveals a critical in vivo role for HMGB1/2 during V(D)J recombination Open
The Recombination Activating Genes, RAG1 and RAG2, are essential for V(D)J recombination and adaptive immunity. Mutations in these genes often cause immunodeficiency, the severity of which reflects the importance of the altered residue or …
View article: Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency Open