B. Vigier

Anti-Müllerian Hormone: The Jost Factor

Publisher Summary This chapter describes anti-Mullerian hormone. It discusses the molecular mechanisms of gene expression and protein bioactivity and the clinical applications of AMH research. In Josts laboratory, the factor responsible for Mullerian regression was called hormone inhibitrice. The homozygosity of the mutated allele was established by the results of allele-specific hybridization, which showed that the patients DNA hybridized only with the mutant oligonucleotide probe and not with the wild-type one. Identical results were obtained with DNA from the two other affected siblings. Although involved in male sex differentiation, the AMH gene is not located on a sex chromosome, in keeping with the tenet that only the genetic trigger for gonadal sex determination needs to be sex specific. Recent data on the location of the AMH gene in other species are available at present. No association to genes located on human chromosome 19 has been detected, indicating complex rearrangements in chromosomal structure during evolution.