CHROMOSOMAL LOCALIZATION AND PARTIAL GENOMIC STRUCTURE OF THE HUMAN PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR-GAMMA (HPPAR-GAMMA) GENE

We determined the chromosomal localization and partial genomic structu re of the coding region of the human PPAR gamma gene (hPPAR gamma), a nuclear receptor important for adipocyte differentiation and function, Sequence analysis and long PCR of human genomic DNA with primers that span putative introns revealed that intron positions and sizes of hPP AR gamma are similar to those previously determined for the mouse PPAR gamma gene[la]. Fluorescent in situ hybridization localized hPPAR gam ma tee chromosome 3, band 3p25, Radiation hybrid mapping with two inde pendent primer pairs was consistent with hPPAR gamma being within 1.5 Mb of marker D3S1263 on 3p25-p24.2. These sequences of the intron/exon junctions of the 6 coding exons shared by hPPAR gamma 1 and hPPAR gam ma 2 will facilitate screening for possible mutations. Furthermore, D3 S1263 is a suitable polymorphic marker for linkage analysis to evaluat e PPAR gamma's potential contribution to genetic susceptibility to obe sity, lipoatrophy, insulin resistance, and diabetes. (C) 1997 Academic Press.