Year: 2005
Type: article
Abstract: SDS shares involvement of the nucleolus and RNA processing with several related syndromes of bone marrow failure, 2 of which also feature short stature and skeletal abnormalities: cartilage-hair hypoplasia (OMIM 250250) derives from defects in the RNA component of RNase mitochondrial RNA processing, which is involved in nucleolar cleaving of pre-rRNA.Xlinked dyskeratosis congenital (OMIM 305000) results from mutations in the gene encoding dyskerin, which associates with small nucleolar RNAs as well as with telomerase RNA.In addition, one gene identified as a cause of Diamond-Blackfan anemia (OMIM 105650) encodes the nucleolar-localized ribosomal protein S19.Future studies by Shimamura's laboratory and other groups studying these rare but important syndromes should help make "the rough places plane" in our understanding of the molecular basis of bone marrow failure, myelodysplasia, and leukemogenesis.■
Source: Blood
Authors: Jan A. Nolta, Craig T. Jordan
Institution: University of Rochester Medicine
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2014144428