{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMDS2, denoting myelodysplastic syndrome 2, was first identified through its involvement in a chromosomal rearrangement with the transcription factor ETV6 in the bone marrow of a patient with myelodysplastic syndrome. Molecular cloning revealed that MDS2 forms a fusion transcript with ETV6 (ETV6-MDS2), where only a short fragment of the ETV6 protein (the first 54 amino acids) is retained and critical functional domains—including the phosphotyrosine-binding and DNA-binding regions—are absent. This aberrant fusion is postulated to disrupt normal transcriptional regulation, contributing to the pathogenesis of myelodysplastic syndrome."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n \nDetailed RNA analyses further demonstrated that MDS2 is expressed as a full-length mRNA in normal tissues and exhibits at least four alternative splicing variants. Notably, in the affected patient, only the ETV6-MDS2 fusion transcript was detected in the bone marrow, suggesting that the deregulated expression of this specific chimeric form may play a critical role in disease development, even though the precise biological function of native MDS2 remains to be fully elucidated."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n\nIn a separate large-scale genome-wide association study investigating serum cation levels, significant associations were identified at several genomic regions—including one near a gene designated MDS1—which underscores the diverse roles that genes with similar nomenclature may play in human physiology and pathology. While MDS1 was implicated in the regulation of serum magnesium concentrations among other physiological processes, its designation should not be conflated with the pathogenic role of MDS2, which appears uniquely involved through its fusion with ETV6 in myelodysplastic syndrome."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "María D Odero, José L Vizmanos, José P Román, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.10090"}], "href": "https://doi.org/10.1002/gcc.10090"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12203785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12203785"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tamra E Meyer, Germaine C Verwoert, Shih-Jen Hwang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1001045"}], "href": "https://doi.org/10.1371/journal.pgen.1001045"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20700443"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20700443"}]}]}]}