par Rodien, P;Cetani, Filomena ;Costagliola, Sabine ;Tonacchera, Massimo ;Duprez, Laurence ;Minegishi, T;Govaerts, Cédric ;Vassart, Gilbert
Référence The Journal of clinical endocrinology and metabolism, 83, 12, page (4431-4434)
Publication Publié, 1998-12
Référence The Journal of clinical endocrinology and metabolism, 83, 12, page (4431-4434)
Publication Publié, 1998-12
Article révisé par les pairs
Résumé : | 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. |