RNA-directed DNA methylation mutants reduce histone methylation at the paramutated maize booster1 enhancer.

Paramutation is the transfer of mitotically and meiotically heritable silencing information between two alleles. With paramutation at the maize (Zea mays) booster1 (b1) locus, the low-expressed B' epiallele heritably changes the high-expressed B-I epiallele into B' with 100% frequency. This requires specific tandem repeats and multiple components of the RNA-directed DNA methylation pathway, including the RNA-dependent RNA polymerase (encoded by mediator of paramutation1, mop1), the second-largest subunit of RNA polymerase IV and V (NRP(D/E)2a, encoded by mop2), and the largest subunit of RNA Polymerase IV (NRPD1, encoded by mop3).

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing predictions. Therefore, a targeted RNAseq-based approach was designed to detect pathogenic RNA splicing and associated pathogenic DNA variants.

3C Technologies in plants.

Chromosome conformation capture (3C) and 3C-based technology have revolutionized studies on chromosomal interactions and their role in gene regulation and chromosome organization. 3C allows the in vivo identification of physical interactions between chromosomal regions. Such interactions are shown to play a role in various aspects of gene regulation, for example transcriptional activation of genes by remote enhancer sequences, or the silencing by Polycomb-group complexes.

Ultrasound evaluation of a spontaneous plantar fascia rupture.

Plantar fascia rupture is an occasional complication in patients with chronic plantar fasciitis or in patients with plantar fasciitis treated with steroid injection. Very few cases of spontaneous plantar fascia rupture have been reported in the literature (Herrick and Herrick, Am J Sports Med 1983;11:95; Lun et al, Clin J Sports Med 1999;9:48-9; Rolf et al, J Foot Ankle Surg 1997;36:112-4; Saxena and Fullem, Am J Sports Med 2004;32:662-5). Spontaneous medial plantar fascia rupture in a 37-yr-old man with no preceding symptoms or steroid injections was confirmed with diagnostic ultrasound, which revealed severe fasciitis at the calcaneal insertion with partial tearing.

The role of DNA methylation, nucleosome occupancy and histone modifications in paramutation.

Paramutation is the transfer of epigenetic information between alleles that leads to a heritable change in expression of one of these alleles. Paramutation at the tissue-specifically expressed maize (Zea mays) b1 locus involves the low-expressing B' and high-expressing B-I allele. Combined in the same nucleus, B' heritably changes B-I into B'.