Tomoo Ogi

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy

This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.

Clearance of DNA damage-arrested RNAPII is selectively impaired in Cockayne syndrome cells

This study identifies a selective RNAPII clearance defect in Cockayne syndrome cells, linking it to neurodegeneration rather than DNA repair failure.

Global landscape of replicative DNA polymerase usage in the human genome

The paper uses Pu-seq to map DNA polymerase usage in human cells, revealing Polε synthesizes the leading strand and Pol contributes to lagging strand synthesis, and links transcription to polymerase uncoupling and chromosomal instability.

ELOF1 is a transcription-coupled DNA repair factor that directs RNA polymerase II ubiquitylation

This study identifies ELOF1 as a factor that directs CRL4CSA to ubiquitylate RNAPII at K1268, facilitating TCR and protecting CSB-deficient cells from transcription-replication collisions.