title: Evidences for an allelic variant of the human LC/CG receptor rather than a gene duplication: functional comparison of wild-type and variant receptors.
abstract: Two different human LH receptor sequences have been published, differing by a six-base pair insertion encoding Leu-Gln at position 55-60. It has recently been proposed that this would reflect the existence of two LH receptor loci in the human genome. The present results demonstrate that both sequences exist as allelic variants in the Caucasian population. Allelic frequency of"LQ variant" and "wild-type" (alphaLQ) allele are 0.26 and 0.74 respectively. In contrast, the LQ allele is virtually absent from the Japanese population. Functional characterization of both alleles by transient expression in COS-7 cells did not reveal any difference between the two receptors, neither for cell surface expression nor for cAMP production and sensitivity to hCG/LH.
authors.affiliation: IRIBHN, Faculté de Médecine, Université Libre de Bruxelles, Brussels, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Rodien
authors.forename: F
authors.initials: F
authors.lastname: Cetani
authors.forename: S
authors.initials: S
authors.lastname: Costagliola
authors.forename: M
authors.initials: M
authors.lastname: Tonacchera
authors.forename: L
authors.initials: L
authors.lastname: Duprez
authors.forename: T
authors.initials: T
authors.lastname: Minegishi
authors.forename: C
authors.initials: C
authors.lastname: Govaerts
authors.forename: G
authors.initials: G
authors.lastname: Vassart
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D020440:Gene Duplication; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan; D011974:Receptors, LH / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D011974:Receptors, LH