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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Open accessAbstract
Diamond-Blackfan anemia (DBA) is a hypoplastic anemia characterized by impaired production of red blood cells, with approximately half of all cases attributed to ribosomal protein gene mutations. We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1. This mutation, which occurred at a splice site of the GATA1 gene, impaired production of the full-length form of the protein. We further identified an additional patient carrying a distinct mutation at the same splice site of the GATA1 gene. These findings provide insight into the pathogenesis of DBA, showing that the reduction in erythropoiesis associated with the disease can arise from causes other than defects in ribosomal protein genes. These results also illustrate the multifactorial role of GATA1 in human hematopoiesis.
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“Through exome sequencing, rare individuals with DBA containing loss-of-function mutations in the hematopoietic master TF GATA1 were identified (Sankaran et al., 2012).”
From Unraveling Hematopoiesis through the Lens of Genomics (2020) · cites this paper as Sankaran et al., 2012
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,508
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Gnirke, A., Melnikov, A., Maguire, J., Rogov, P., LeProust, E. M., Brockman, W., Fennell, T., Giannoukos, G., Fisher, S., Russ, C., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1523 · Cited by 1,433
Tsai, S., Martin, D. I. K., Zon, L. I., D’Andrea, A. D., Wong, G. G., & Orkin, S. H. (1989) · Nature · doi:10.1038/339446a0 · Cited by 884
Ribosomopathies: human disorders of ribosome dysfunction
Narla, A., & Ebert, B. L. (2010) · Blood · doi:10.1182/blood-2009-10-178129 · Cited by 841
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Draptchinskaia, N., Gustavsson, P., Andersson, B., Pettersson, M., Willig, T.-N., Dianzani, I., Ball, S., Tchernia, G., Klar, J., Matsson, H., et al. (1999) · Nature Genetics · doi:10.1038/5951 · Cited by 795
Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome
Wechsler, J. B., Greene, M. E., McDevitt, M. A., Anastasi, J., Karp, J. E., Beau, M. M. L., & Crispino, J. D. (2002) · Nature Genetics · doi:10.1038/ng955 · Cited by 758
Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia
Musunuru, K., Pirruccello, J. P., Do, R., Peloso, G. M., Guiducci, C., Sougnez, C., Garimella, K. V., Fisher, S., Abreu, J., Barry, A. J., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1002926 · Cited by 754
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
Nichols, K. E., Crispino, J. D., Poncz, M., White, J. G., Orkin, S. H., Maris, J. M., & Weiss, M. J. (2000) · Nature Genetics · doi:10.1038/73480 · Cited by 511
Vlachos, A., Ball, S. E., Dahl, N., Alter, B. P., Sheth, S., Ramenghi, U., Meerpohl, J. J., Karlsson, S., Liu, J. M., Leblanc, T. M., et al. (2008) · British Journal of Haematology · doi:10.1111/j.1365-2141.2008.07269.x · Cited by 474
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Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits
Ulirsch, J. C., Nandakumar, S. K., Wang, L., Giani, F. C., Zhang, X., Rogov, P., Melnikov, A., McDonel, P., Do, R., Mikkelsen, T. S., et al. (2016) · Cell · doi:10.1016/j.cell.2016.04.048 · Cited by 328
Metadata
- Authors
- Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., & Gazda, H. T.
- Affiliations
- Broad Institute (US)
- Manton Center for Orphan Disease Research (US)
- Whitehead Institute for Biomedical Research (US)
- Harvard University (US)
- Boston Children's Hospital (US)
- ORCID
- Venue
- Journal of Clinical Investigation
- Published
- 2012-07-02
- Volume
- 122
- Issue
- 7
- Pages
- 2439-2443
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC3386831
- OpenAlex
- W2073724558
- Cited by
- 342
- References
- 23
- Citations by year
- 2026: 13 · 2025: 8 · 2024: 20 · 2023: 17 · 2022: 25 · 2021: 25 · 2020: 25 · 2019: 24 · 2018: 27 · 2017: 42 · 2016: 24 · 2015: 29 · 2014: 35 · 2013: 20 · 2012: 7
- FWCI
- 17.54
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Clinical Investigation (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (HG003067)
- Manton Center for Orphan Disease Research, Boston Children's Hospital
- National Heart, Lung, and Blood Institute (R01HL107558, T32HL007574)
- National Human Genome Research Institute (U54HG003067)
- Topics
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Keywords
- Diamond-Blackfan anemia, GATA-1, splice site mutation, hypoplastic anemia, erythropoiesis, hematopoietic transcription factors, siblings, pathogenesis, hematopoiesis
- MeSH terms
- Base Sequence, DNA Mutational Analysis, Hematopoiesis, Humans, Male, Case-Control Studies, Sequence Deletion, Anemia, Diamond-Blackfan, GATA1 Transcription Factor, Young Adult, Genetic Association Studies, Exome, Real-Time Polymerase Chain Reaction
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