Association between IgH enhancer hs1.2 and type 1 diabetes

Cianci, Rossella; D’Addabbo, Pietro; Gambassi, Giovanni; Lolli, Serena; Serone, Eliseo; Rizzi, Alessandro; Pitocco, Dario; Pandolfi, Franco; Frezza, Domenico

doi:10.1007/s00592-018-1103-5

Cited by 4 publications

(1 citation statement)

References 33 publications

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“…In humans four allelic variants of hs1.2 have been identified for 3 RR1 and two for 3 RR2 [60,61]. A polymorphism of hs1.2 enhancer is involved in immunological diseases, among others: herpetiform dermatitis, coeliac disease, rheumatic arthritis, diabetes or IgA deficiency [52,[62][63][64].…”

Section: The 3 Regulatory Regionmentioning

confidence: 99%

Enhancing B-Cell Malignancies—On Repurposing Enhancer Activity towards Cancer

Kasprzyk

Sura

Dzikiewicz‐Krawczyk

2021

Cancers

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B-cell lymphomas and leukemias derive from B cells at various stages of maturation and are the 6th most common cancer-related cause of death. While the role of several oncogenes and tumor suppressors in the pathogenesis of B-cell neoplasms was established, recent research indicated the involvement of non-coding, regulatory sequences. Enhancers are DNA elements controlling gene expression in a cell type- and developmental stage-specific manner. They ensure proper differentiation and maturation of B cells, resulting in production of high affinity antibodies. However, the activity of enhancers can be redirected, setting B cells on the path towards cancer. In this review we discuss different mechanisms through which enhancers are exploited in malignant B cells, from the well-studied translocations juxtaposing oncogenes to immunoglobulin loci, through enhancer dysregulation by sequence variants and mutations, to enhancer hijacking by viruses. We also highlight the potential of therapeutic targeting of enhancers as a direction for future investigation.

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