title: Structure and chromosomal localization of the human anti-müllerian hormone type II receptor gene.
abstract: Using the rat anti-müllerian hormone type II receptor (AMHRII) cDNA as a probe, two overlapping lambda phage clones containing the AMHRII gene were isolated from a human genomic library. Sequence analysis of the 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 receptor 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 müllerian duct syndrome.
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D003001:Cloning, Molecular; D012734:Disorders of Sex Development / Q000235:genetics; D005091:Exons; D005260:Female; D015698:Genomic Library; D015186:Hominidae / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009095:Mullerian Ducts / Q000378:metabolism; D011817:Rabbits; D051381:Rats; D018000:Receptors, Peptide / Q000096:biosynthesis / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta; D011994:Recombinant Proteins / Q000096:biosynthesis; D017386:Sequence Homology, Amino Acid
chemical_list: D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; D011994:Recombinant Proteins; C084621:anti-Mullerian hormone receptor