Structure and Chromosomal Localization of the Human Anti-Müllerian Hormone Type II Receptor Gene

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 wa...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 1995-10, Vol.215 (3), p.1029-1036
Main Authors: Visser, J.A., Mcluskey, A., Vanbeers, T., Weghuis, D.O., Vankessel, A.G., Grootegoed, J.A., Themmen, A.P.N.
Format: Article
Language:English
Subjects:
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
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Summary: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.
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1995.2567