BMS1 is mutated in aplasia cutis congenita.
United States. In Plos Genet, 2013
A heterozygous Arg-to-His missense mutation (p.R930H) in the ribosomal GTPase BMS1 is identified in ACC that is associated with a delay in 18S rRNA maturation, consistent with a role of BMS1 in processing of pre-rRNAs of the small ribosomal subunit.
A novel small-subunit processome assembly intermediate that contains the U3 snoRNP, nucleolin, RRP5, and DBP4.
Newcastle upon Tyne, United Kingdom. In Mol Cell Biol, 2009
Eukaryotic 18S rRNA processing is mediated by the small subunit (SSU) processome, a machine comprised of the U3 small nucleolar RNP (U3 snoRNP), tUTP, bUTP, MPP10, and BMS1/RCL1 subcomplexes.
Regulation of rRNA processing: a role for a unique GTPase.
Ames, United States. In Mol Cell, 2005
Recent findings by Karbstein et al. (2005 [this issue of Molecular Cell]) reveal that association of the preribosomal biosynthesis factors U3 snoRNA and Rcl1p is controlled by the GTPase Bms1p, suggesting that regulatory events are involved in the formation of ribosome biogenesis complexes.