Ontology highlight
ABSTRACT:
SUBMITTER: Vasieva O
PROVIDER: S-EPMC3202468 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Advances and applications in bioinformatics and chemistry : AABC 20110921
Shwachman-Bodian-Diamond syndrome (SBDS) is linked to a mutation in a single gene. The SBDS proinvolved in RNA metabolism and ribosome-associated functions, but SBDS mutation is primarily linked to a defect in polymorphonuclear leukocytes unable to orient correctly in a spatial gradient of chemoattractants. Results of data mining and comparative genomic approaches undertaken in this study suggest that SBDS protein is also linked to tRNA metabolism and translation initiation. Analysis of crosstal ...[more]