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 structure 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 hPPAR gamma are similar to those previously determined for the mouse PPAR gamma gene[13]. Fluorescent in situ hybridization localized hPPAR gamma to chromosome 3, band 3p25. Radiation hybrid mapping with two independent 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 gamma 2 will facilitate screening for possible mutations. Furthermore, D3S1263 is a suitable polymorphic marker for linkage analysis to evaluate PPAR gamma's potential contribution to genetic susceptibility to obesity, lipoatrophy, insulin resistance, and diabetes.
Beamer
B A
BA
Division of Geriatric Medicine and Gerontology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Negri
C
C
Yen
C J
CJ
Gavrilova
O
O
Rumberger
J M
JM
Durcan
M J
MJ
Yarnall
D P
DP
Hawkins
A L
AL
Griffin
C A
CA
Burns
D K
DK
Roth
J
J
Reitman
M
M
Shuldiner
A R
AR
D000273:Adipose Tissue / Q000378:metabolism; D000818:Animals; D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007438:Introns; D051379:Mice; D015345:Oligonucleotide Probes / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D017931:DNA Primers; D005819:Genetic Markers; D015345:Oligonucleotide Probes; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors; D004247:DNA