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Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-RNA-Seq

ABSTRACT: Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-RNA-Seq

PROVIDER: PRJNA738284 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR14819115_1.fastq.gz	Fastqsanger.gz
	SRR14819115_2.fastq.gz	Fastqsanger.gz
	SRR14819116_1.fastq.gz	Fastqsanger.gz
	SRR14819116_2.fastq.gz	Fastqsanger.gz
	SRR14819117_1.fastq.gz	Fastqsanger.gz

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Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic

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Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-ChIP-Seq

Project description:Somatic mutations of RUNX1, which encodes the myeloid and lymphoid transcriptional factor RUNX1, are common in both B- and T- acute lymphoid leukemia (ALL) and are associated with poor prognosis of T-ALL. However, there has been no comprehensive investigation of the pattern or prevalence of RUNX1 germline mutation in both B- and T-ALL. Here we report germline RUNX1 variants in 1.23% of B-ALL and 2.11% of T-ALL, identifying 31 unique variants in 62 B-ALL and 18 unique variants in 26 T-ALL children. The majority of frameshift and nonsense variants affected RUNX1 function in transcriptional regulation, hematopoiesis, and cellular proliferation. We identified JAK3 as the most frequent somatic mutation in T-ALL with RUNX1 variants. These results not only identify RUNX1 as a leukemia predisposition gene but also further underline the importance of germline genetic variants to the development of ALL

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Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

Project description:Genetic alterations in the RUNX1 gene are associated with benign and malignant blood disorders, particularly of megakaryocyte and myeloid lineages. The role of RUNX1 in acute lymphoblastic leukemia (ALL) is less clear, particularly how germline genetic variation influences the predisposition to this type of leukemia. Sequencing 4,836 children with B-ALL and 1,354 cases of T-ALL, we identified 31 and 18 germline RUNX1 variants, respectively. RUNX1 variants in B-ALL consistently showed minimal damaging effects. By contrast, 6 T-ALL-related variants result in drastic loss of RUNX1 activity as a transcription activator in vitro. Ectopic expression of dominant-negative RUNX1 variants in human CD34+ cells repressed differentiation into erythroid, megakaryocytes, and T cells, while promoting myeloid cell development. Chromatin immunoprecipitation sequencing of T-ALL models showed distinctive patterns of RUNX1 binding by variant proteins. Further whole genome sequencing identified JAK3 mutation as the most frequent somatic genomic abnormality in T-ALL with germline RUNX1 variants. Co-introduction of RUNX1 variant and JAK3 mutation in hematopoietic stem and progenitor cells in mice gave rise to T-ALL with early T-cell precursor phenotype. Taken together, these results indicated that RUNX1 is an important predisposition gene for T-ALL and pointed to novel biology of RUNX1-mediated leukemogenesis in the lymphoid lineages.

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Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic

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Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic

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