H. Laurell et al., THE HORMONE-SENSITIVE LIPASE (LIPE) GENE LOCATED ON CHROMOSOME 19Q13.1-]13.2 IS NOT DUPLICATED ON 19P13.3, International journal of obesity, 19(8), 1995, pp. 590-592
The existence of a DNA polymorphism at the hormone-sensitive lipase lo
cus could be of great interest for genetic analysis of obesity and rel
ated disorders since hormone-sensitive lipase is the rate-limiting enz
yme of adipose tissue lipolysis and therefore plays a key role in ener
gy metabolism. The polymorphic dinucleotide repeat D19S120 was identif
ied within a human genomic clone selected with a rat hormone-sensitive
lipase cDNA, This marker was subsequently localized to the short arm
of chromosome 19 (p13.3) whereas human hormone-sensitive lipase (LIFE)
had been mapped to the long arm of chromosome 19 (q13.1 --> 13.2). A
duplication of the hormone-sensitive lipase gene or the presence of a
pseudogene could explain the discrepancy, Cosmids from the two regions
were analyzed in Southern blot experiments, A human adipose tissue ho
rmone-sensitive lipase full-length cDNA probe hybridized only to cosmi
ds from the 19q13.1 --> 13.2 region whereas the D19S120 amplicon probe
hybridized only to cosmids from the p13.3 region, These data show tha
t the occurrence of gene duplication or the presence of a pseudogene o
n the short arm of chromosome 19 is very unlikely and that D19S120 is
unrelated to the hormone-sensitive lipase gene.