The gene encoding human TFE3, a transcription factor that binds the immunoglobulin heavy-chain enhancer, maps to Xp11.22.
TFE3, a member of the helix-loop-helix family of transcription factors, binds to the microE3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types. We have localized human TFE3 to the proximal short arm of the X chromosome using a somatic cell hybrid panel. A frequent RsaI RFLP detected by the TFE3 cDNA was found and used to confirm this location by linkage analysis in 20 pedigrees. Two-point and multipoint lod scores place TFE3 near markers in Xp11.22 with the most likely order DXS7-DXS255-TFE3-DXS146-DXS14.
Henthorn
P S
PS
Section of Medical Genetics, University of Pennsylvania School of Veterinary Medicine, Philadelphia.
Stewart
C C
CC
Kadesch
T
T
Puck
J M
JM
D000818:Animals; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002460:Cell Line; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D006224:Cricetinae; D003434:Crossing Over, Genetic; D015342:DNA Probes; D004268:DNA-Binding Proteins / Q000235:genetics*; D004742:Enhancer Elements, Genetic / Q000235:genetics; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D008126:Lod Score; D012150:Polymorphism, Restriction Fragment Length; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D015342:DNA Probes; D004268:DNA-Binding Proteins; D007143:Immunoglobulin Heavy Chains; C069203:TFE3 protein, human; D014157:Transcription Factors