Article
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.
Nature - 14 Oct 1993
Shenker A, Laue L, Kosugi S, Merendino J J, Minegishi T, Cutler G B
Abstract excerpt
Familial male precocious puberty (FMPP) is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by age 4. Testosterone production and Leydig cell hyperplasia occur in the context of prepubertal levels of luteinizing hormone (LH). The LH receptor is a member of the family of G-protein-coupled receptors, and we...
Topics
- Adenine
- Amino Acid Sequence
- Animals
- Base Sequence
- Cell Line
- Chorionic Gonadotropin
- Cyclic AMP
- DNA Mutational Analysis
- DNA Primers
- Deoxyribonuclease HpaII
- Deoxyribonucleases, Type II Site-Specific