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  1. AU="Anne Schedel"
  2. AU="Youngmin Bu"
  3. AU="Edriss, Fatima"
  4. AU="Liu, Changxue"
  5. AU="Spruit, Martijn A"
  6. AU="Zhang, Dai-Gui"
  7. AU="Appelen, Diebrecht"
  8. AU="Moreira, Jânio Cordeiro"

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  1. Artikel ; Online: Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood

    Pia Michler / Anne Schedel / Martha Witschas / Ulrike Anne Friedrich / Rabea Wagener / Juha Mehtonen / Triantafyllia Brozou / Maria Menzel / Carolin Walter / Dalileh Nabi / Glen Pearce / Miriam Erlacher / Gudrun Göhring / Martin Dugas / Merja Heinäniemi / Arndt Borkhardt / Friedrich Stölzel / Julia Hauer / Franziska Auer

    International Journal of Molecular Sciences, Vol 22, Iss 11572, p

    2021  Band 11572

    Abstract: While the shelterin complex guards and coordinates the mechanism of telomere regulation, deregulation of this process is tightly linked to malignant transformation and cancer. Here, we present the novel finding of a germline stop-gain variant (p.Q199*) ... ...

    Abstract While the shelterin complex guards and coordinates the mechanism of telomere regulation, deregulation of this process is tightly linked to malignant transformation and cancer. Here, we present the novel finding of a germline stop-gain variant (p.Q199*) in the shelterin complex gene POT1 , which was identified in a child with acute myeloid leukemia. We show that the cells overexpressing the mutated POT1 display increased DNA damage and chromosomal instabilities compared to the wildtype counterpart. Protein and mRNA expression analyses in the primary patient cells further confirm that, physiologically, the variant leads to a nonfunctional POT1 allele in the patient. Subsequent telomere length measurements in the primary cells carrying heterozygous POT1 p.Q199* as well as POT1 knockdown AML cells revealed telomeric elongation as the main functional effect. These results show a connection between POT1 p.Q199* and telomeric dysregulation and highlight POT1 germline deficiency as a predisposition to myeloid malignancies in childhood.
    Schlagwörter acute myeloid leukemia ; pediatric ; trio sequencing ; germline cancer predisposition ; POT1 ; shelterin complex ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Thema/Rubrik (Code) 612
    Sprache Englisch
    Erscheinungsdatum 2021-10-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma

    Anne Schedel / Ulrike Anne Friedrich / Mina N. F. Morcos / Rabea Wagener / Juha Mehtonen / Titus Watrin / Claudia Saitta / Triantafyllia Brozou / Pia Michler / Carolin Walter / Asta Försti / Arka Baksi / Maria Menzel / Peter Horak / Nagarajan Paramasivam / Grazia Fazio / Robert J Autry / Stefan Fröhling / Meinolf Suttorp /
    Christoph Gertzen / Holger Gohlke / Sanil Bhatia / Karin Wadt / Kjeld Schmiegelow / Martin Dugas / Daniela Richter / Hanno Glimm / Merja Heinäniemi / Rolf Jessberger / Gianni Cazzaniga / Arndt Borkhardt / Julia Hauer / Franziska Auer

    International Journal of Molecular Sciences, Vol 23, Iss 5174, p

    2022  Band 5174

    Abstract: Somatic loss of function mutations in cohesin genes are frequently associated with various cancer types, while cohesin disruption in the germline causes cohesinopathies such as Cornelia-de-Lange syndrome (CdLS). Here, we present the discovery of a ... ...

    Abstract Somatic loss of function mutations in cohesin genes are frequently associated with various cancer types, while cohesin disruption in the germline causes cohesinopathies such as Cornelia-de-Lange syndrome (CdLS). Here, we present the discovery of a recurrent heterozygous RAD21 germline aberration at amino acid position 298 (p.P298S/A) identified in three children with lymphoblastic leukemia or lymphoma in a total dataset of 482 pediatric cancer patients. While RAD21 p.P298S/A did not disrupt the formation of the cohesin complex, it altered RAD21 gene expression, DNA damage response and primary patient fibroblasts showed increased G2/M arrest after irradiation and Mitomycin-C treatment. Subsequent single-cell RNA-sequencing analysis of healthy human bone marrow confirmed the upregulation of distinct cohesin gene patterns during hematopoiesis, highlighting the importance of RAD21 expression within proliferating B- and T-cells. Our clinical and functional data therefore suggest that RAD21 germline variants can predispose to childhood lymphoblastic leukemia or lymphoma without displaying a CdLS phenotype.
    Schlagwörter acute lymphoblastic leukemia ; trio sequencing ; germline cancer predisposition ; RAD21 ; cohesin complex ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Sprache Englisch
    Erscheinungsdatum 2022-05-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

    Volltext online

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