AMRC

The 3' Pol II pausing at replication-dependent histone genes is regulated by Mediator through Cajal bodies’ association with histone locus bodies

Over 480 million infections and 6 million deaths have been recorded since the novel coronavirus disease 2019 pandemic began over 2 years ago. Coronavirus disease 2019 is principally a respiratory illness caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which infects the cells of the airway and can also replicate in the gastrointestinal tract. Notably, over half of those with SARS-CoV-2 infections shed SARS-CoV-2 genomes in their stool,1 and infectious viruses can be isolated from their fecal samples,2 suggesting that the virus also infects and replicates in the intestinal tract.

Background Previous large-scale studies of de novo variants identified a number of genes associated with neurodevelopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be discovered by integrating copy number variants (CNVs), which have not been fully considered in previous studies, and increasing the sample size.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slow-progressing multisystem neurodegenerative disorder. Biallelic AAGGG repeat expansion in RFC1 has been identified as causative of this disease, and repeat conformation heterogeneity (ACAGG repeat) was also recently implied. To molecularly characterize this disease in Japanese patients with adult-onset ataxia, we accumulated and screened 212 candidate families by an integrated approach consisting of flanking PCR, repeat-primed PCR, Southern blotting and long-read sequencing using Sequel II, GridION or PromethION.