title: A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
abstract: 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.affiliation: King's College London School of Medicine, Division of Gene and Cell Based Therapy, King's Denmark Hill Campus, London SE5 9PJ, UK.
authors.forename: Stephan
authors.initials: S
authors.lastname: Menzel
authors.forename: Chad
authors.initials: C
authors.lastname: Garner
authors.forename: Ivo
authors.initials: I
authors.lastname: Gut
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Matsuda
authors.forename: Masao
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: Simon
authors.initials: S
authors.lastname: Heath
authors.forename: Mario
authors.initials: M
authors.lastname: Foglio
authors.forename: Diana
authors.initials: D
authors.lastname: Zelenika
authors.forename: Anne
authors.initials: A
authors.lastname: Boland
authors.forename: Helen
authors.initials: H
authors.lastname: Rooks
authors.forename: Steve
authors.initials: S
authors.lastname: Best
authors.forename: Tim D
authors.initials: TD
authors.lastname: Spector
authors.forename: Martin
authors.initials: M
authors.lastname: Farrall
authors.forename: Mark
authors.initials: M
authors.lastname: Lathrop
authors.forename: Swee Lay
authors.initials: SL
authors.lastname: Thein
mesh_terms: D000755:Anemia, Sickle Cell / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005319:Fetal Hemoglobin / Q000235:genetics* / Q000378:metabolism; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D040641:Quantitative Trait Loci; D012097:Repressor Proteins; D016335:Zinc Fingers / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: C486563:BCL11A protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D005319:Fetal Hemoglobin