A novel human luteinizing hormone receptor (LHR) gene was isolated fro
m a human placental genomic library. This gene (Gene II) differs from
that previously isolated from a lymphocyte library (Gene I) by several
base changes in the 5' flanking region and the deletion of 6 nucleoti
des in the coding region (+55 to +60). The sequence of the exon 1 codi
ng region of gene II conforms to the sequence of the human ovarian LHR
cDNA. Furthermore, primer extension and reporter gene analyses indica
te that both the Gene II promoter and the human ovarian LHR mRNA trans
criptional start sites are located within the -176 bp TATA-less 5' fla
nking domain. Additional upstream transcriptional start sites (>-176 b
p) were identified in human testicular mRNA and the human choriocarcin
oma JAR cell. Restriction enzyme analysis verifies that both LHR genes
are present in the human genome, and gene dosing reveals four copies
of the human LHR in contrast to a single copy in the rat genome. Chrom
osomal mapping localizes all copies of the human LHR to the chromosome
2p16-21 loci. These studies suggest that tissue-specific LHR promoter
utilization and LHR gene expression may be correlated with gene diver
sity.