The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Abstract
Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.
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Several mouse coat color mutants are ribosomal proteins, although they are not the ribosomal components enriched here.
“Pigment cell enrichment of ribosomal components is not surprising, considering several mouse coat color mutants are ribosomal proteins, although they are not the ribosomal components enriched here [50]–[53].”
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- Authors
- Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., Tentler, D., Mohandas, N., Carlsson, B., & Dahl, N.
- Affiliations
- Uppsala University (SE)
- Lawrence Berkeley National Laboratory (US)
- University of Turin (IT)
- St George's, University of London (GB)
- Corresponding author
- Dahl, Niklas
- ORCID
- Venue
- Nature Genetics
- Published
- 1999-02
- Volume
- 21
- Issue
- 2
- Pages
- 169-175
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- DOI
- 10.1038/5951
- OpenAlex
- W1521601785
- Cited by
- 795
- References
- 1
- Citations by year
- 2026: 17 · 2025: 6 · 2024: 17 · 2023: 16 · 2022: 20 · 2021: 27 · 2020: 38 · 2019: 30 · 2018: 32 · 2017: 39 · 2016: 26 · 2015: 31 · 2014: 34 · 2013: 37 · 2012: 44
- FWCI
- 9.98
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (P01DK032094, DK-26263, DK32094)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Keywords
- Diamond-Blackfan anemia, RPS19, pure red cell aplasia, X, nonsense mutation, frameshift mutation, splice site mutation, missense mutations, intragenic deletion, erythropoiesis, embryonic development, malformations
- MeSH terms
- Amino Acid Sequence, Chromosomes, Human, Pair 19, Cosmids, Fanconi Anemia, Female, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Ribosomal Proteins, Translocation, Genetic, X Chromosome, Sequence Analysis, DNA
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