{"entity": "publication", "iuid": "8f9e42d6661e4aaa91aa58e60cde36d9", "timestamp": "2026-09-28T11:17:36.180Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/8f9e42d6661e4aaa91aa58e60cde36d9.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/8f9e42d6661e4aaa91aa58e60cde36d9"}}, "title": "Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.", "authors": [{"family": "Yang", "given": "Minjun", "initials": "M", "orcid": "0000-0002-3324-1498", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/820e5a34c12f41458487bba712d486ed.json"}}, {"family": "Vesterlund", "given": "Mattias", "initials": "M", "orcid": "0000-0001-9471-6592", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e443cdb01cc44a7fa786941b5c0b62d6.json"}}, {"family": "Siavelis", "given": "Ioannis", "initials": "I"}, {"family": "Moura-Castro", "given": "Larissa H", "initials": "LH"}, {"family": "Castor", "given": "Anders", "initials": "A"}, {"family": "Fioretos", "given": "Thoas", "initials": "T"}, {"family": "Jafari", "given": "Rozbeh", "initials": "R", "orcid": "0000-0002-3396-4709", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/95546f158dde40709fbfbb822a8f89c5.json"}}, {"family": "Lilljebj\u00f6rn", "given": "Henrik", "initials": "H", "orcid": "0000-0001-8703-1173", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d3c8e64bb5452a9a6332c0a21a5a51.json"}}, {"family": "Odom", "given": "Duncan T", "initials": "DT", "orcid": "0000-0001-6201-5599", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e8063d3396284b448f03300415fbdb9e.json"}}, {"family": "Olsson", "given": "Linda", "initials": "L"}, {"family": "Ravi", "given": "Naveen", "initials": "N"}, {"family": "Woodward", "given": "Eleanor L", "initials": "EL"}, {"family": "Harewood", "given": "Louise", "initials": "L"}, {"family": "Lehti\u00f6", "given": "Janne", "initials": "J", "orcid": "0000-0002-8100-9562", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/561efcf32e2648c8a10fee692fc4e908.json"}}, {"family": "Paulsson", "given": "Kajsa", "initials": "K", "orcid": "0000-0001-7950-222X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/54d7266ff8fc4ba98245c1ec0d99df65.json"}}], "type": "journal article", "published": "2019-04-03", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "10", "issue": "1", "pages": "1519", "issn-l": "2041-1723"}, "abstract": "Hyperdiploidy, i.e. gain of whole chromosomes, is one of the most common genetic features of childhood acute lymphoblastic leukemia (ALL), but its pathogenetic impact is poorly understood. Here, we report a proteogenomic analysis on matched datasets from genomic profiling, RNA-sequencing, and mass spectrometry-based analysis of >8,000 genes and proteins as well as Hi-C of primary patient samples from hyperdiploid and ETV6/RUNX1-positive pediatric ALL. We show that CTCF and cohesin, which are master regulators of chromatin architecture, display low expression in hyperdiploid ALL. In line with this, a general genome-wide dysregulation of gene expression in relation to topologically associating domain (TAD) borders were seen in the hyperdiploid group. Furthermore, Hi-C of a limited number of hyperdiploid childhood ALL cases revealed that 2/4 cases displayed a clear loss of TAD boundary strength and 3/4 showed reduced insulation at TAD borders, with putative leukemogenic effects.", "doi": "10.1038/s41467-019-09469-3", "pmid": "30944321", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6447538"}, {"db": "pii", "key": "10.1038/s41467-019-09469-3"}], "notes": [], "created": "2026-09-23T07:40:50.850Z", "modified": "2026-09-23T07:40:51.024Z"}