ArticleBlood2009
Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome.
Article in Blood, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Aerobic exercise training programmes for improving physical and psychosocial health in adults with Down syndrome.The Cochrane database of systematic reviews · 2010Pooled it
- Trial
- Genome-wide association study of somatic GATA1s mutations in newborns with Down syndrome.Blood advances · 2025Article
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- Review
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- Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports.Molecular cytogenetics · 2023Article
- Increased risk of leukaemia in children with Down syndrome: a somatic evolutionary view.Expert reviews in molecular medicine · 2021Article
- Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis.Scientific reports · 2020Article
- Contributions of DNA Damage to Alzheimer's Disease.International journal of molecular sciences · 2020Review
- Cellular Senescence in Neurodegenerative Diseases.Frontiers in cellular neuroscience · 2020Review
- Loss of DNA polymerase β induces cellular senescence.Environmental and molecular mutagenesis · 2018Article
- Loss of Full-Length GATA1 Expression in Megakaryocytes Is a Sensitive and Specific Immunohistochemical Marker for the Diagnosis of Myeloid Proliferative Disorder Related to Down Syndrome.American journal of clinical pathology · 2018Article
- Sometimes it is better to wait: First Italian case of a newborn with transient abnormal myelopoiesis and a favorable prognosis.Oncology letters · 2017Article
- GATA1 mutations in a cohort of Malaysian children with Down syndrome-associated myeloid disorder.Singapore medical journal · 2016Article
- The emerging role of GATA transcription factors in development and disease.Expert reviews in molecular medicine · 2016Review
- Review
- Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations.Cancer medicine · 2015Review
- Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation.Nature genetics · 2014Article
- Genetic predispositions to childhood leukemia.Therapeutic advances in hematology · 2013Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Down syndrome (DS) children have a unique genetic susceptibility to develop leukemia, in particular, acute megakaryocytic leukemia (AMkL) associated with somatic GATA1 mutations. The study of this genetic susceptibility with the use of DS as a model of leukemogenesis has broad applicability to the understanding of leukemia in children overall. On the basis of the role of GATA1 mutations in DS AMkL, we analyzed the mutational spectrum of GATA1 mutations to begin elucidating possible mechanisms by which these sequence alterations arise. Mutational analysis revealed a predominance of small insertion/deletion, duplication, and base substitution mutations, including G:C>T:A, G:C>A:T, and A:T>G:C. This mutational spectrum points to potential oxidative stress and aberrant folate metabolism secondary to genes on chromosome 21 (eg, cystathionine-beta-synthase, superoxide dismutase) as potential causes of GATA1 mutations. Furthermore, DNA repair capacity evaluated in DS and non-DS patient samples provided evidence that the base excision repair pathway is compromised in DS tissues, suggesting that inability to repair DNA damage also may play a critical role in the unique susceptibility of DS children to develop leukemia. A model of leukemogenesis in DS is proposed in which mutagenesis is driven by cystathionine-beta-synthase overexpression and altered folate homeostasis that becomes fixed as the ability to repair DNA damage is compromised.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.