STRUCTURE AND CHROMOSOMAL LOCALIZATION OF THE HUMAN ANTI-MULLERIAN HORMONE TYPE-II RECEPTOR GENE

Using the rat anti-mullerian hormone type II receptor (AMHRII) cDNA as a probe, two overlapping lambda phage clones containing the AMHRII ge ne were isolated from a human genomic library. Sequence analysis of th e exons was performed and the exon/intron boundaries were determined. The coding region was found to consist of 11 exons, divided over 8 kb. The genomic structure resembles that of the related activin type II r eceptor gene. The AMHRII gene was mapped to human chromosome 12q12-q13 . The results reported are essential for identification of AMHRII gene alterations in patients with persistent mullerian duct syndrome. (C) 1995 Academic Press, Inc.