title: Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.
abstract: The X-linked Kallmann syndrome gene was recently cloned and homologous sequences of unknown functional significance identified on the Y chromosome. We now describe a patient with Kallmann syndrome carrying an X;Y translocation resulting from abnormal pairing and precise recombination between the X-linked Kallmann syndrome gene and its homologue on the Y. The translocation created a recombinant, non-functional Kallmann syndrome gene identical to the normal X-linked gene with the exception of the 3' end which is derived from the Y. Our findings indicate that the 3' portion of the Kallmann syndrome gene is essential for its function and cannot be substituted by the Y-derived homologous region, although a 'position' effect remains a formal possibility.
authors.affiliation: University of Pavia, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Guioli
authors.forename: B
authors.initials: B
authors.lastname: Incerti
authors.forename: E
authors.initials: E
authors.lastname: Zanaria
authors.forename: B
authors.initials: B
authors.lastname: Bardoni
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: K
authors.initials: K
authors.lastname: Taylor
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: G
authors.initials: G
authors.lastname: Camerino
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D005091:Exons; D006801:Humans; D007438:Introns; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods; D011995:Recombination, Genetic; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D014178:Translocation, Genetic; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D009838:Oligodeoxyribonucleotides