Linked Life Data

18230666

Source:http://linkedlifedata.com/resource/pubmed/id/18230666

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2008-4-18
pubmed:abstractText
Diamond-Blackfan anemia (DBA) is a rare congenital disease affecting erythroid precursor differentiation. DBA is emerging as a paradigm for a new class of pathologies potentially linked to disorders in ribosome biogenesis. Three genes encoding ribosomal proteins have been associated to DBA: after RPS19, mutations in genes RPS24 and RPS17 were recently identified in a fraction of the patients. Here, we show that cells from patients carrying mutations in RPS24 have defective pre-rRNA maturation, as in the case of RPS19 mutations. However, in contrast to RPS19 involvement in the maturation of the internal transcribed spacer 1, RPS24 is required for processing of the 5' external transcribed spacer. Remarkably, epistasis experiments with small interfering RNAs indicate that the functions of RPS19 and RPS24 in pre-rRNA processing are connected. Resolution of the crystal structure of RPS24e from the archeon Pyroccocus abyssi reveals domains of RPS24 potentially involved in interactions with pre-ribosomes. Based on these data, we discuss the impact of RPS24 mutations and speculate that RPS19 and RPS24 cooperate at a particular stage of ribosome biogenesis connected to a cell cycle checkpoint, thus affecting differentiation of erythroid precursors as well as developmental processes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1460-2083
pubmed:author
pubmed:issnType
Electronic
pubmed:day
1
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1253-63
pubmed:meshHeading
pubmed-meshheading:18230666-Amino Acid Sequence, pubmed-meshheading:18230666-Anemia, Diamond-Blackfan, pubmed-meshheading:18230666-Archaeal Proteins, pubmed-meshheading:18230666-Cell Line, Tumor, pubmed-meshheading:18230666-Down-Regulation, pubmed-meshheading:18230666-HeLa Cells, pubmed-meshheading:18230666-Humans, pubmed-meshheading:18230666-Models, Molecular, pubmed-meshheading:18230666-Molecular Sequence Data, pubmed-meshheading:18230666-Mutation, pubmed-meshheading:18230666-RNA, Ribosomal, pubmed-meshheading:18230666-RNA Precursors, pubmed-meshheading:18230666-RNA Processing, Post-Transcriptional, pubmed-meshheading:18230666-Ribosomal Proteins, pubmed-meshheading:18230666-Ribosome Subunits, Small, Eukaryotic, pubmed-meshheading:18230666-Ribosomes, pubmed-meshheading:18230666-Sequence Alignment
pubmed:year
2008
pubmed:articleTitle
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.
pubmed:affiliation
Laboratoire de Biologie Molé culaire Eucaryote, Université de Toulouse, 31062 Toulouse, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't