Creating the AML-specific t(9;11) chromosomal translocation model to study the structural basis of leukemia development in mouse cells

Chromosomal translocation are large-scale genome rearrangements found in several cancers. They are formed when two (or more) non-homologous chromosomes interchange large parts as a result of erroneous DNA repair after concomitant double-strand breaks. They are especially common in leukemias, where t...

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Detalhes bibliográficos
Autor: Sparavier, Aleksandra
Tipo de documento: tese
Estado:Versão publicada
Data de publicação:2022
País:España
Recursos:CBUC, CESCA
Repositório:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/674497
Acesso em linha:http://hdl.handle.net/10803/674497
Access Level:Acceso aberto
Palavra-chave:Leukemia
Translocation
CRISPR/Cas9
Chromosome
Differentiation
Leucemia
Translocación
Cromosoma
Diferenciación
616.4
Descrição
Resumo:Chromosomal translocation are large-scale genome rearrangements found in several cancers. They are formed when two (or more) non-homologous chromosomes interchange large parts as a result of erroneous DNA repair after concomitant double-strand breaks. They are especially common in leukemias, where their main effect is the formation of fusion genes, e.g., MLL-AF9 in t(9;11)-related leukemia. Most studies so far focused solely on the function of the oncoprotein, omitting the possible effects caused by the translocation, namely the genome structure change and the heterozygous KO of the translocation partner genes. To study more in detail these mechanisms, we apply the CRISPR/Cas9 and gene-trap technology to build the equivalent of t(9;11) in mouse ESCs, namely the t(4;9) translocation, with conditional Mll-Af9 expression. We report that, whether the induced translocation alone has only a seemingly mild effect on the hematopoietic differentiation, expressing Mll-Af9 in ESCs abrogates the hemangioblast emergence. Collectively, our strategy allows for deciphering the different layers contributing to leukemogenesis.