A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
Menzel S,
Garner C,
Gut I,
Matsuda F,
Yamaguchi M,
Heath S,
Foglio M,
Zelenika D,
Boland A,
Rooks H,
Best S,
Spector TD,
Farrall M,
Lathrop M,
Thein SL.
King's College London School of Medicine, Division of Gene and Cell Based Therapy, King's Denmark Hill Campus, London SE5 9PJ, UK.
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.
PMID: 17767159 [PubMed - indexed for MEDLINE]