Project #11123
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#11123 : Identification of the mouse and/or rat orthologues of the human gene ANOS1, responsible for the X-chromosome-linked form of Kallmann syndrome
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Name of Applicant : Jean-Pierre HARDELIN
Date of application : 06-03-2018
Unit : Genetics and Physiology of Hearing
Location : Fernbach 3rd floor room 3002
Phone : 01 45 68 88 91
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Project context and summary :

The human gene ANOS1, responsible for the X-chromosome-linked form of Kallmann syndrome (a developmental disease affecting the olfactory system), has been identified in 1991 by positional cloning. It is located on the X chromosome short arm (at Xp22.3), close to the STS gene and close to the boundary of the pseudoautosomal region (common to the X and Y sex chromosomes). Since then, orthologous genes have been identified in all animal species (including invertebrates), except in the mouse, rat, and other rodents (an orthologue in the naked mole-rat Heterocephalus glaber is however present in the GeneBank data base). The orthologous STS in the mouse has been identified in the mouse, and is located in the XY pseudoautosomal region in this species. The sequence of the mouse STS is unusually GC-rich and has markedly diverged from the human orthologous sequence, even though the amino acid sequence of the protein is highly conserved. The ANOS1 orthologous genes have not yet been identified in the mouse/rat, although we have been able to detect the encoded protein anosmin-1 in these species, with antibodies directed against the human protein (the orthologous proteins in the mouse and rat have the expected size in western blot analysis, i.e. about 690 amino-acids).

Related team publications :
Legouis R, Hardelin J-P, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, Bougueleret L, Delemarre-Van de Waal H, Lutfalla G, Weissenbach J & Petit C (1991) The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67, 423-435.
del Castillo, I., et al. (1992). “Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.” Nat. Genet. 2: 305-310.
Hardelin J-P & Dodé C (2016) FGFR1, FGF8, PROKR2, PROK2, ANOS1, and the olfactogenital (Kallmann) syndrome. Chapter 64 in Epstein’s Inborn errors of development: the molecular basis of clinical disorders of morphogenesis. 3rd edition. Erickson RP, Wynshaw-Boris A (eds) Oxford University Press. New York. pp 485-492.
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Project Type : Short
Status : In Progress

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