2014
Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (–AA) β0-Thalassemia Mutation
Jiang Z, Huang S, Luo H, Akar N, Basak A, Al-Allawi N, Unal S, Gumruk F, Davis L, Morrison T, Campbell A, Gallagher P, Forget B, Steinberg M, Chui D. Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (–AA) β0-Thalassemia Mutation. Blood 2014, 124: 2690. DOI: 10.1182/blood.v124.21.2690.2690.Peer-Reviewed Original ResearchQuantitative trait lociGene clusterIntergenic regionHbF quantitative trait lociΓ-globin gene expressionKb intergenic regionSevere phenotypeMild phenotypeHBS1L-MYB intergenic regionΒ-globin gene clusterGenome-wide SNP arraysMild disease phenotypeDisease phenotypeMinor alleleWhole-genome sequencingTrait lociHPFH mutationNovel SNPsGenetic analysisSNP arrayGene expressionΒ-hemoglobinopathiesGenome sequencingQTL genotypesWhole-exome sequencing
2006
Lentivirus Vectors Containing a Band 3/γ-Globin Gene Flanked by Distinct Insulator Elements Are Resistant to Gene Silencing in Primary Mouse Erythroid Cells.
Harrow F, Frazar T, Seidel N, Gallagher P, Bodine D. Lentivirus Vectors Containing a Band 3/γ-Globin Gene Flanked by Distinct Insulator Elements Are Resistant to Gene Silencing in Primary Mouse Erythroid Cells. Blood 2006, 108: 3260. DOI: 10.1182/blood.v108.11.3260.3260.Peer-Reviewed Original ResearchΓ-globin geneLocus control regionInsulator elementsΓ-globinΓ-globin mRNAB3 promoterStart siteΓ-globin gene expressionMouse hematopoietic progenitor cellsLike globin genesAbundant membrane proteinErythroid-specific expressionTranscription start siteΓ-globin expressionMouse erythroid cellsCorrect start sitesHigh-throughput real-time PCRHypersensitive site 4Transgenic miceΒ-globin geneMultiple upstream sitesInsulator activityGlobin genesHematopoietic stem cellsMembrane proteins