[Molecular biology of normal and pathologic anti-müllerian hormone].
Anti-Müllerian hormone, responsible for Müllerian regression in male fetuses, is a glycoprotein dimer with two 72 kD subunits. The AMH gene is a small (2,800 bp) gene with 5 exons, localized on the tip of the short arm of chromosome 19, band p 133, and transcribed in a 2,000 kbp mRNA. Persistent Müllerian duct syndrome, a rare form of male pseudohermaphroditism characterized by the presence of uterus and Fallopian tubes in patients with normally virilized genitalia, may result from defective AMH gene or from target-organ insensitivity. Four mutations were identified in the AMH gene, 3 are point mutations (2 stop codons, the third altering the secondary structure of the molecule), the last is a 14 bp deletion, leading to alteration of the reading frame of the mRNA.
Imbeaud
S
S
Unité de Recherches sur l'Endocrinologie du Développement INSERM U293, Département de Biologie, Montrouge.
Carre-Eusebe
D
D
Boussin
L
L
Knebelmann
B
B
Guerrier
D
D
Josso
N
N
Picard
J Y
JY
D054304:Anti-Mullerian Hormone; D012734:Disorders of Sex Development / Q000235:genetics / Q000378:metabolism*; D005796:Genes / Q000235:genetics; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D012708:Sertoli Cells / Q000378:metabolism; D013735:Testicular Hormones / Q000235:genetics* / Q000378:metabolism
D006023:Glycoproteins; D006131:Growth Inhibitors; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone
Biologie moléculaire de l'hormone anti-müllérienne normale et pathologique.