Structure and chromosomal localization of the human anti-müllerian hormone type II receptor gene

Biochem Biophys Res Commun. 1995 Oct 24;215(3):1029-36. doi: 10.1006/bbrc.1995.2567.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12*
  • Cloning, Molecular
  • Disorders of Sex Development / genetics
  • Exons
  • Female
  • Genomic Library
  • Hominidae / genetics*
  • Humans
  • In Situ Hybridization
  • Introns
  • Male
  • Molecular Sequence Data
  • Mullerian Ducts / metabolism
  • Rabbits
  • Rats
  • Receptors, Peptide / biosynthesis
  • Receptors, Peptide / genetics*
  • Receptors, Transforming Growth Factor beta
  • Recombinant Proteins / biosynthesis
  • Sequence Homology, Amino Acid

Substances

  • Receptors, Peptide
  • Receptors, Transforming Growth Factor beta
  • Recombinant Proteins
  • anti-Mullerian hormone receptor

Associated data

  • GENBANK/X91156
  • GENBANK/X91157
  • GENBANK/X91158
  • GENBANK/X91159
  • GENBANK/X91160
  • GENBANK/X91161
  • GENBANK/X91162
  • GENBANK/X91163
  • GENBANK/X91164
  • GENBANK/X91165
  • GENBANK/X91166