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Supplemental Materials
Distinct
iron
architecture
in
SF3B1
mutant
Myelodysplastic Syndromes patients is linked to a
SLC25A37 splice variant with a retained intron
Valeria Visconte1, Nanthawan Avishai2, Reda Mahfouz1, Ali Tabarroki1, Jonathan
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Cowen2, Reza Sharghi-Moshtaghin2, Midori Hitomi3, Heesun J. Rogers4, Edy
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Hasrouni1, James Phillips1, Mikkael A. Sekeres1,5, Arthur H. Heuer2, Yogen
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Saunthararajah1,5 , John Barnard6, Ramon V. Tiu 1,5
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1Department
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Cancer Institute, Cleveland Clinic, Cleveland, OH, USA; 2Department of Materials
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Science and Engineering, Swagelok Center for Surface Analysis of Materials,
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Case Western Reserve University, Cleveland, OH, USA; 3Electron Microscopy
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Facility, Case Western Reserve University, Cleveland, OH, USA; 4Department of
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Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA;
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Department of Hematologic Oncology and Blood Disorders, Taussig Cancer
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Institute, Cleveland Clinic, Cleveland, OH, USA; 6Department of Quantitative
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Health Sciences, Cleveland Clinic, OH, USA
of Translational Hematology and Oncology Research, Taussig
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Leukemia Program,
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Running Title: Iron and SF3B1 mutations
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Key Words: iron, RARS, SF3B1, SLC25A37
Correspondence:
Ramon V. Tiu, MD
Assistant Professor of Molecular Medicine
Department of Translational Hematology and Oncology Research
Taussig Cancer Institute
Cleveland Clinic
Telephone #: 216-444-6730
Fax #: 216-636-2498
E-mail: tiur@ccf.org
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Figure legends
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iron deposits in RARS/-T patients. (A) A standard spectrum of different
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inorganic materials containing the Fe ion of different oxidation states analyzed by
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EELS technology was used to confirm the Fe ion status in SF3B1 mutant and
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wild type RARS/-T patients. Overlay histograms represent the energy (eV) of the
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fitted region corresponding to the iron peak in several oxidation states covering a
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shift of energy from 708-710 eV. (B) Chemical shift and peak shape of Fe2+ and
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Fe3+ of different elements. (Laurence A.J Garvie et al., Nature 396, 667-670,
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1998)
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Abbreviations: eV, electron volt
Figure S1. Divalent iron (Fe2+) is the most prevalent form of iron within the
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A
B
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Figure S2. mRNA expression levelmeasurements of normal and abnormal
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SLC25A37. RT-PCR analysis was conducted on healthy subjects, SF3B1 mutant
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and WT RARS/-T mRNA using specific primers for SLC25A37 normal and
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abnormal variant. GAPDH was used as loading control. Data are presented as
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relative expression. Maximum and minimum values are given per each sample.
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Relative Expression (RQ)
Healthy subject
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SF3B1 Wild type
SF3B1 Mutant
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Normal Variant
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Abnormal Variant
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Table legends
Table S1. Differential gene expression between SF3B1 mutant RARS/-T
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patients and healthy subjects. Analysis of differential gene expression showed
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45 unique genes that were found to be different between SF3B1 mutant and
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healthy subjects.
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Table S2. Differential exon usage between SF3B1 mutant and wild type
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RARS/-T patients. Analysis of differential exon usage showed a total of 353
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genes that were represented more than once corresponding to 271 unique genes
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with at least 1 exon showing differential changes between SF3B1 mutant and
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wild type RARS/-T patients.
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