title: Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor.
abstract: Anti-Müllerian hormone (AMH) and its receptor are involved in the regression of Müllerian ducts in male fetuses. We have now cloned and mapped the human AMH receptor gene and provide genetic proof that it is required for AMH signalling, by identifying a mutation in the AMH receptor in a patient with persistent Müllerian duct syndrome. The mutation destroys the invariant dinucleotide at the 5' end of the second intron, generating two abnormal mRNAs, one missing the second exon, required for ligand binding, and the other incorporating the first 12 bases of the second intron. The similar phenotypes observed in AMH-deficient and AMH receptor-deficient individuals indicate that the AMH signalling machinery is remarkably simple, consisting of one ligand and one type II receptor.
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D054304:Anti-Mullerian Hormone; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003456:Cryptorchidism / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000502:physiology*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009095:Mullerian Ducts / Q000002:abnormalities*; D009928:Organ Specificity; D017354:Point Mutation; D012333:RNA, Messenger / Q000032:analysis / Q000096:biosynthesis; D018000:Receptors, Peptide / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta; D017422:Sequence Analysis, DNA; D013577:Syndrome; D013735:Testicular Hormones / Q000502:physiology*; D013737:Testis / Q000737:chemistry; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D006023:Glycoproteins; D006131:Growth Inhibitors; D012333:RNA, Messenger; D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; D013735:Testicular Hormones; C084621:anti-Mullerian hormone receptor; D054304:Anti-Mullerian Hormone