ArticleProceedings of the National Academy of Sciences of the United States of America1998
t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 54 papers.
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54 citing papers in PubMed, 160 citations in OpenAlex.
- In Utero Origins of Acute Leukemia in Children.Biomedicines · 2024Review
- Membrane tension sensing molecule-FNBP1 is a prognostic biomarker related to immune infiltration in BRCA, LUAD and STAD.BMC immunology · 2022Article
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.American journal of medical genetics. Part A · 2021Observational
- MLL-SEPT5 Fusion Transcript in Myelodysplastic Syndrome Patient With t(11;22)(q23;q11).Frontiers in medicine · 2021Article
- Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome.Pediatric reports · 2020Article
- A Bioinformatic Pipeline Places STAT5A as a miR-650 Target in Poorly Differentiated Aggressive Breast Cancer.International journal of molecular sciences · 2020Article
- Cell Division Cycle 2 Protects Neonatal Rats Against Hyperoxia-Induced Bronchopulmonary Dysplasia.Yonsei medical journal · 2020Article
- The preleukemic TCF3-PBX1 gene fusion can be generated in utero and is present in ≈0.6% of healthy newborns.Blood · 2019Article
- Acute myeloid leukemia withSAGE open medical case reports · 2018Article
- The Mammalian Septin Interactome.Frontiers in cell and developmental biology · 2017Review
- MLL-SEPT5 Fusion Transcript in Two de novo Acute Myeloid Leukemia Patients With t(11;22)(q23;q11).Annals of laboratory medicine · 2016Article
- MiR-223-3p targeting SEPT6 promotes the biological behavior of prostate cancer.Scientific reports · 2014Article
- Mixed lineage leukemia-septin 5 fusion transcript inOncology letters · 2014Article
- Topoisomerase II and leukemia.Annals of the New York Academy of Sciences · 2014Review
- The expression patterns of Septin-9 after traumatic brain injury in rat brain.Journal of molecular neuroscience : MN · 2013Article
- Article
- Conquering the complex world of human septins: implications for health and disease.Clinical genetics · 2010Review
- Both SEPT2 and MLL are down-regulated in MLL-SEPT2 therapy-related myeloid neoplasia.BMC cancer · 2009Article
- A variant-type MLL/SEPT9 fusion transcript in adult de novo acute monocytic leukemia (M5b) with t(11;17)(q23;q25).International journal of hematology · 2008Article
- Septin expression in proliferative retinal membranes.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2007Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
We examined the MLL genomic translocation breakpoint in acute myeloid leukemia of infant twins. Southern blot analysis in both cases showed two identical MLL gene rearrangements indicating chromosomal translocation. The rearrangements were detectable in the second twin before signs of clinical disease and the intensity relative to the normal fragment indicated that the translocation was not constitutional. Fluorescence in situ hybridization with an MLL-specific probe and karyotype analyses suggested t(11;22)(q23;q11. 2) disrupting MLL. Known 5' sequence from MLL but unknown 3' sequence from chromosome band 22q11.2 formed the breakpoint junction on the der(11) chromosome. We used panhandle variant PCR to clone the translocation breakpoint. By ligating a single-stranded oligonucleotide that was homologous to known 5' MLL genomic sequence to the 5' ends of BamHI-digested DNA through a bridging oligonucleotide, we formed the stem-loop template for panhandle variant PCR which yielded products of 3.9 kb. The MLL genomic breakpoint was in intron 7. The sequence of the partner DNA from band 22q11.2 was identical to the hCDCrel (human cell division cycle related) gene that maps to the region commonly deleted in DiGeorge and velocardiofacial syndromes. Both MLL and hCDCrel contained homologous CT, TTTGTG, and GAA sequences within a few base pairs of their respective breakpoints, which may have been important in uniting these two genes by translocation. Reverse transcriptase-PCR amplified an in-frame fusion of MLL exon 7 to hCDCrel exon 3, indicating that an MLL-hCDCrel chimeric mRNA had been transcribed. Panhandle variant PCR is a powerful strategy for cloning translocation breakpoints where the partner gene is undetermined. This application of the method identified a region of chromosome band 22q11.2 involved in both leukemia and a constitutional disorder.
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