A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

Journal article

F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell disease and beta thalassemia. We applied a genome-wide association mapping strategy to individuals with contrasting extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance.

Authors: Menzel, S; Garner, C; Gut, I; Matsuda, F; Yamaguchi, M

• Publication status: Published
• Journal: Nature genetics
• Volume: 39
• Issue: 10
• Pages: 1197-1199
• Publication date: 2007-10-01
• DOI: 10.1038/ng2108
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Anemia, Sickle Cell; Carrier Proteins; Genetic Variation; Humans; Fetal Hemoglobin; Chromosome Mapping; Chromosomes, Human, Pair 2; Zinc Fingers; beta-Thalassemia; Quantitative Trait Loci; Genome, Human; Phenotype; Nuclear Proteins