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Evidences for an Allelic Variant of the Human LC/CG Receptor rather than a Gene Duplication: Functional Comparison of Wild-Type and Variant Receptors¹

IRIBHN (P.R., F.C., S.C., M.T., L.D., C.G., G.V.) and Service de Génétique Médicale (G.V.), Faculté de Médecine, Université Libre de Bruxelles, B-1070 Brussels, Belgium; Department of Obstetrics and Gynecology (T.M.), Gumna University Japan

Address correspondence and requests for reprints to: Patrice Rodien, Faculte de Medecine, Campus Hospital Erasme, Route de Linnik 808, Bruxelles 1070 Belgium.

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" (LQ) 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.

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