Functional analysis of the male-pattern baldness susceptibility locus by using transposon technology

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An intergenic non-coding region between human PAX1 and FOXA2 gene loci has been reported as a susceptibility locus for human male-pattern baldness by genome-wide association studies. To elucidate the function of the genomic region, we performed transposon-based functional analysis of the corresponding genomic region in the mouse. This allowed mapping of long-range genomic cis-regulatory regions and identification of a wide-variety of enhancer elements. No conclusive evidence has so far been obtained from the mouse to support an association between the Pax1 gene and the hair loss phenotype.