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Articles by RG Development
A transposable element prevents severe hemophilia B and provides insights into the evolution of new- and old world primates
Loading metrics Open Access Peer-reviewed Research Article Citation: Kopp J, Rovai A, Ott M, Wedemeyer H, Tiede A, Böhmer HJ, et al. (2024) A transposable element prevents severe hemophilia B and provides insights into the evolution of new- and old world primates. PLoS ONE 19(10): e0312303.
Disruption of regulatory domains and novel transcripts as disease‐causing mechanisms
CONCLUSIONS The latest technological developments have significantly improved our interpretation of the pathogenic impact of SVs. For many SVs, however, the underlying disease mechanism still needs to be fully resolved, and for many others, the prediction of their pathogenic impact still needs to be improved. Indeed, several challenges remain, hampering the medical interpretation of SVs, predicting their phenotypic consequences, and characterizing their underlying disease mechanism.
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
Acute myeloid leukemia (AML) is the most common acute leukemia in adults with an incidence of ∼4 new cases annually per 100 000 inhabitants in the United States. Despite recent therapeutic advances, AML still shows the shortest survival time of all leukemias.1 The complex karyotype subtype of AML (CK-AML) is associated with an even poorer response to conventional therapy and has the worst outcome of all cases.
Jumping retroviruses nudge TADs apart
Far from being junk DNA, the pervasive retrotransposons that populate the genome have a powerful capacity to influence genes and chromatin. A new study demonstrates how the transcription of one such element, HERV-H, can modify the higher-order 3D structure of chromatin during early primate development. Fig. 1: Functionally co-opted ERVs have diverse activities. References 1. Chuong, E. B., Elde, N. C. & Feschotte, C. Nat. Rev. Genet. 18, 71–86 (2017). 2. Mi, S. et al. Nature 403, 785–789 (2000). 3. Zhang, Y.
Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D
During embryogenesis, precise gene transcription in space and time requires that distal enhancers and promoters communicate by physical proximity within gene regulatory landscapes. To achieve this, regulatory landscapes fold in nuclear space, creating complex 3D structures that influence enhancer-promoter communication and gene expression and that, when disrupted, can cause disease.
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
In the vast majority of the Alzheimer's disease (AD) cases, the disease is considered as a complex disorder with a high genetic component as part of a multifactorial determinism (for review, see [1x[1]Nicolas, G., Charbonnier, C., and Campion, D. From common to rare variants: the genetic component of Alzheimer disease. Hum Hered. 2016; 81: 129–141Crossref | PubMed | Scopus (5) | Google ScholarSee all References][1]).
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