The scientists used cellular reprogramming and genome engineering to functionally dissect the loss of chromosome 7q, a somatic cytogenetic abnormality present in myelodysplastic syndromes. They used a phenotype-rescue screen to identify candidate haploinsufficient genes that might mediate the del(7q)- hematopoietic defect. Their approach highlights the utility of human iPSCs both for functional mapping of disease-associated large-scale chromosomal deletions and for discovery of haploinsufficient genes.
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The scientists used cellular reprogramming and genome engineering to functionally dissect the loss of chromosome 7q, a somatic cytogenetic abnormality present in myelodysplastic syndromes. They used a phenotype-rescue screen to identify candidate haploinsufficient genes that might mediate the del(7q)- hematopoietic defect. Their approach highlights the utility of human iPSCs both for functional mapping of disease-associated large-scale chromosomal deletions and for discovery of haploinsufficient genes.
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