Kart Matlik

1 1Laboratory of Developmental Neurobiology, The Rockefeller University, New York, New York 10065, USA; 2Department of Chemistry and Biotechnology, Tallinn University of Technology, Tallinn 12618, Estonia Corresponding authors: hatten{at}rockefeller.edu, kart.matlik{at}taltech.ee Footnotes Article published online ahead of print. Article and publication date are online at http://www.genesdev.org/cgi/doi/10.1101/gad.352306.124.

Abstract Purkinje cells, the sole output neurons of the cerebellar cortex, are crucial for cerebellum-dependent motor learning. Previously we demonstrated that a ubiquitous 2-3-fold increase of endogenous glial cell line-derived neurotrophic factor (GDNF) improves motor learning. However, GDNF impacts many organ systems and cell types throughout the body leaving the underlying mechanism elusive.

Abstract Chromatin is a crucial regulator of gene expression and tightly controls development across species. Mutations in only one copy of multiple histone genes were identified in children with developmental disorders characterized by microcephaly, but their mechanistic roles in development remain unclear. Here we focus on dominant mutations affecting histone H4 lysine 91. These H4K91 mutants form aberrant nuclear puncta at specific heterochromatin regions.