P. Bennett et al., COMPLETE STRUCTURAL CHARACTERIZATION OF THE HUMAN ARYL-HYDROCARBON RECEPTOR GENE, JCP. Clinical molecular pathology, 49(1), 1996, pp. 12-16
Aims-To clone and characterise the complete structural gene for the hu
man aryl hydrocarbon receptor (AhR). This gene, located on chromosome
7, encodes a cytosolic receptor protein which, upon activation by vari
ous xenobiotic ligands, translocates to the nucleus, where it acts as
a specific transcription factor.Methods-Primers, based on the AhR cDNA
sequence, were used in conjunction with recently developed long range
PCR techniques to amplify contiguous sections of the cognate gene. Th
e amplicons produced were then cloned and characterised. A cDNA probe
was also used to screen a human P1 library. Results-Using the cDNA pri
mers, DNA fragments which mapped the entire coding region of the gene
were amplified and cloned. All but one of these fragments were amplifi
ed directly from human genomic DNA. The remaining fragment was amplifi
ed using DNA prepared from a P1 clone as the PCR template. This P1 clo
ne, obtained by screening a human P1 library, also contained the entir
e Ah locus. Characterisation of amplified and cloned DNA fragments pro
vided sufficient information for the construction of a complete struct
ural map of the gene. This also included 150 base pairs of nucleotide
sequence data at all intronic termini.Conclusions-These data indicate
that the human AhR gene is about 50 kilobases long and contains 11 exo
ns. The overall intron/exon structure of the human gene is homologous
to that of the previously characterised mouse gene; however, it is pro
bably some 20 kilobases larger. These results demonstrate the need for
further characterisation and provide the data to facilitate this.