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© 1995 Oxford University Press

OTHER

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

Louisa Laue1,*, Shao-Ming Wu1, Masataka Kudo3, Aaron J.W. Hsueh3, Gordon B. Cutler, Jr4, James E. Griffin5, Jean D. Wilson5, Caroline Brain6, A.Caroline Berry6, David B. Grant6 and Wai-Yee Chan1,2

1Departments of Pediatrics, Georgetown University Medical Center Washington, D.C. 20007 2Departments of Cell Biology and Biochemistry, Georgetown University Medical Center Washington, D.C. 20007 3Department of Obstetrics and Gynecology, Stanford University Medical Center Stanford, CA 94305 4Developmental Endocrinology Branch NICHD, NIH, Bethesda, MD 20892 5Department of Internal Medicine, University of Texas, Southwestern Medical Center Dallas TX 75235, USA 6Great Ormond Street Hospital for Children and Guy's Hospital London, UK

*To whom correspondence should be addressed

Received April 17, 1995; Revised May 9, 1995; Accepted May 9, 1995

Leydig cell hypoplasia (LCH) is a form of male pseudohermaphroditism in which Leydig cell differentiation and testosterone production are impaired. This report describes the first case of a nonsense mutation (A1635C) in exon 11 of the human luteinizing hormone receptor (hLHR) gene in two sisters with LCH. This mutation causes loss of function of the receptor by introducing a stop codon at residue 545 in transmembrane helix 5 of the hLHR. Surface expression of the truncated hLHR (hLHR-t545) in human embryonic kidney cells stably transfected with cDNA encoding hLHR-t545 was diminished compared to the wild-type hLHR and hCG-induced cAMP accumulation was impaired. These results establish that single base mutations in exon 11 of the hLHR gene can produce inactivation as well as activation of the hLHR. Furthermore, they demonstrate that functional domains between transmembrane helix 5 and the C-terminal cytoplasmic tail of the hLHR are required for normal cell surface expression of the receptor and signal transduction.


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