Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.
SourceStowers Institute for Medical Research·JournalNature·TypeExperimental study·DateSep 24, 2025
Researchers from UTHSC have made a foundational discovery about chromosome biology through their work on the first-ever human pangenome reference. The draft pangenome uses complete genome assemblies to provide a diverse look at the genetic makeup of humans, shedding light on variation in parts of the genome that could not be seen before.
SourceUniversity of Tennessee Health Science Center·JournalNature·DateJun 2, 2023
A new study reveals a gene called KLF4 that normally suppresses tumor formation but is reprogrammed in acute promyelocytic leukemia, an aggressive type of blood cancer. Overexpressing KLF4 can suppress the growth of cancerous cells and reverse the effects of the disease.
SourceCenter for Genomic Regulation·JournalGenes & Development·TypeExperimental study·DateApr 20, 2022
A novel spontaneous chromosomal translocation on chromosome 6 in watermelon leads to meiotic abnormalities and reduced seed production. This study identifies the causal relationship between the translocation and gamete semi-sterility, providing insights into the molecular mechanisms underlying diploid less-seeded watermelon formation.
SourceNanjing Agricultural University The Academy of Science·JournalHorticulture Research·DateDec 22, 2021
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Researchers from the University of Seville studied a specific type of chromosomal break generated by enzymes called DNA topoisomerases. They found that this mechanism prevents the formation of aberrant chromosomal structures called translocations, which are linked to some types of cancer.
SourceUniversity of Seville·JournalNature Communications·DateOct 31, 2017
Researchers mapped evolutionary turning points that transformed a fungus with tens of thousands of mating types to one with only two. They found that translocations brought together separate chunks of sex-determining genes onto a single chromosome, mimicking the human X or Y chromosome.
Researchers at CNIC and CNIO successfully reproduce chromosomal translocations in human cells, identical to those found in leukemia and sarcoma patients. This breakthrough enables the study of new therapeutic targets and therapies for cancer treatment.
SourceCentro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)·JournalNature Communications·DateJun 4, 2014
Researchers from CNIO and CNIC successfully reproduced chromosomal translocations in human stem cells, identical to those found in patients with acute myeloid leukemia and Ewing's sarcoma. This breakthrough allows for the study of new therapeutic targets and experimental recapitulation of tumour development.
SourceCentro Nacional de Investigaciones Oncológicas (CNIO)·JournalNature Communications·DateJun 3, 2014
Researchers found that people with a rare chromosome abnormality have a 2,700-fold increased risk of a rare childhood leukemia. The fusion of chromosomes 15 and 21 led to chromothripsis, which shattered the chromosome and created an optimised genome for leukaemia.
SourceWellcome Trust Sanger Institute·JournalNature·DateMar 23, 2014
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Researchers uncover chromosomal translocations that cause cancer, potentially leading to targeted therapies and personalized treatment. The study's findings may enable doctors to offer more accurate prognoses and inform treatment decisions.
SourceUniversity of Colorado Anschutz Medical Campus·JournalFrontiers of Medicine·DateAug 13, 2012
A new study finds that children exposed to high levels of naphthalene are at increased risk for chromosomal aberrations, including translocations. The researchers discovered a link between naphthalene exposure and an increased likelihood of chromosomal aberrations in children.
SourceColumbia University's Mailman School of Public Health·DateMay 29, 2012
Researchers discover that the genome's three-dimensional organization and proximity of broken chromosome ends affect where they reconnect. The study highlights two guiding principles: cellular spatial heterogeneity and proximity, which govern chromosome rearrangements in cancer and normal cells.
SourceBoston Children's Hospital·JournalCell·DateFeb 16, 2012
Researchers used Hi-C technology to generate a 3D model of a mouse genome and mapped chromosomal breaks to explore the impact of spatial proximity on reassembly. The study found that breaks near each other were more likely to be incorrectly attached to neighboring chromosomes.
SourceUMass Chan Medical School·JournalCell·DateFeb 16, 2012
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Chromosomal translocations, a hallmark of leukemias and lymphomas, may be more systematically driven than previously thought. The study identifies the male sex hormone (androgen) receptor as a key player in driving specific translocations in prostate cancer.
SourceUniversity of California - San Diego·JournalCell·DateDec 3, 2009
The Shilatifard Lab has provided new insight into H3K4 methylation, a crucial activity associated with MLL protein and chromosomal translocations. The study sheds light on how this process contributes to the development of aggressive infant acute leukemias.
SourceStowers Institute for Medical Research·JournalMolecular and Cellular Biology·DateMay 4, 2009
Researchers at USC have identified a key mechanism that occurs in the inception point of many human lymphomas, a process previously unknown. The study found that chromosomal translocations occur at CpG sites in early B-cells, driven by enzymes AID and RAG complex.
SourceUniversity of Southern California·JournalCell·DateDec 11, 2008
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Airline pilots with long-term flying experience may be exposed to cumulative DNA damage from cosmic ionising radiation. Chromosome translocation frequency was higher among pilots than faculty staff, especially those who had flown the most.
SourceBMJ Group·JournalOccupational and Environmental Medicine·DateDec 10, 2008
A University of Leicester scientist has identified ten novel chromosomal translocations in children and young adults with acute lymphoblastic leukaemia. This finding sheds fundamental new light on the pathogenesis of the disease and may lead to the development of new targeted therapies.
A study by researchers at The Children's Hospital of Philadelphia found that genetic predisposition may raise the risk of rare disabling syndrome caused by chromosome rearrangements. Translocations between chromosomes 11 and 22 were found to occur more frequently in healthy individuals than previously thought.
SourceChildren's Hospital of Philadelphia·JournalScience·DateFeb 16, 2006
Researchers developed a strategy to deliver PDGF-BB to cardiomyocytes using self-assembling peptide nanofibers, protecting them from injury and reducing infarct size. This approach holds promise for tissue regeneration after cardiac injury.
SourceJCI Journals·JournalJournal of Clinical Investigation·DateDec 15, 2005
A study found that AML patients with the 8;21 translocation have a poor response to treatment and are more likely to relapse. Nonwhite patients with this abnormality were almost six times less likely to achieve complete remission than whites.
SourceOhio State University·JournalJournal of Clinical Oncology·DateSep 7, 2005
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Researchers distinguish a new type of leukemia called mixed-lineage leukemia (MLL) that is genetically different from acute lymphoblastic leukemia (ALL). The study used DNA microarrays to compare gene expression profiles and found clues about the origin of MLL, suggesting it is caused by arrested maturation of lymphocytes.
SourceHoward Hughes Medical Institute·JournalNature Genetics·DateDec 3, 2001