title: Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.
abstract: The gene for the X-linked Kallmann syndrome (KAL), a developmental disorder characterized by hypogonadotropic hypogonadism and anosmia, maps to Xp22.3 and has a homologous locus, KALP, on Yq11. We show here that KAL consists of 14 exons spanning 120-200 kilobases that correlate with the distribution of domains in the predicted protein including four fibronectin type III repeats. The KALP locus reveals several large deletions and a number of small insertions, deletions and base substitutions which indicate it is a non-processed pseudogene. The sequence divergence between KAL and KALP in humans, and the chromosomal location of KAL homologous sequences in other primates, suggest that KALP and the steroid sulphatase pseudogene on Yq11 were involved in the same rearrangement event on the Y chromosome during primate evolution.
authors.affiliation: Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Institut Pasteur, Paris, France.
authors.forename: I
authors.initials: I
authors.lastname: del Castillo
authors.forename: M
authors.initials: M
authors.lastname: Cohen-Salmon
authors.forename: S
authors.initials: S
authors.lastname: Blanchard
authors.forename: G
authors.initials: G
authors.lastname: Lutfalla
authors.forename: C
authors.initials: C
authors.lastname: Petit
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007438:Introns; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D011323:Primates; D011544:Pseudogenes; D012689:Sequence Homology, Nucleic Acid; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D004247:DNA