A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
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.
Menzel
Stephan
S
King's College London School of Medicine, Division of Gene and Cell Based Therapy, King's Denmark Hill Campus, London SE5 9PJ, UK.
Garner
Chad
C
Gut
Ivo
I
Matsuda
Fumihiko
F
Yamaguchi
Masao
M
Heath
Simon
S
Foglio
Mario
M
Zelenika
Diana
D
Boland
Anne
A
Rooks
Helen
H
Best
Steve
S
Spector
Tim D
TD
Farrall
Martin
M
Lathrop
Mark
M
Thein
Swee Lay
SL
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
C486563:BCL11A protein, human; D002352:Carrier Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D005319:Fetal Hemoglobin