Mammalian Genome

, Volume 6, Issue 11, pp 798–801

Mapping of the calcium-sensing receptor gene (CASR) to human Chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat Chromosome 11 and mouse Chromosome 16

  • N. Janicic
  • E. Soliman
  • Z. Pausova
  • M. F. Seldin
  • M. Rivière
  • J. Szpirer
  • C. Szpirer
  • G. N. Hendy
Original Contributions

DOI: 10.1007/BF00539007

Cite this article as:
Janicic, N., Soliman, E., Pausova, Z. et al. Mammalian Genome (1995) 6: 798. doi:10.1007/BF00539007

Abstract

The calcium-sensing receptor (CASR), a member of the G-protein coupled receptor family, is expressed in both parathyroid and kidney, and aids these organs in sensing extracellular calcium levels. Inactivating mutations in the CASR gene have been described in familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). Activating mutations in the CASR gene have been described in autosomal dominant hypoparathyroidism and familial hypocalcemia. The human CASR gene was mapped to Chromosome (Chr) 3q13.3-21 by fluorescence in situ hybridization (FISH). By somatic cell hybrid analysis, the gene was localized to human Chr 3 (hybridization to other chromosomes was not observed) and rat Chr 11. By interspecific backcross analysis, the Casr gene segregated with D16Mit4 on mouse Chr 16. These findings extend our knowledge of the synteny conservation of human Chr 3, rat Chr 11, and mouse Chr 16.

Copyright information

© Springer-Verlag New York Inc. 1995

Authors and Affiliations

  • N. Janicic
    • 1
    • 2
    • 3
  • E. Soliman
    • 1
    • 2
    • 3
  • Z. Pausova
    • 1
    • 2
    • 3
  • M. F. Seldin
    • 4
    • 5
  • M. Rivière
    • 6
  • J. Szpirer
    • 6
  • C. Szpirer
    • 6
  • G. N. Hendy
    • 1
    • 2
    • 3
  1. 1.Calcium Research LaboratoryMcGill University and Royal Victoria HospitalMontrealCanada
  2. 2.Department of MedicineMcGill University and Royal Victoria HospitalMontrealCanada
  3. 3.Department of PhysiologyMcGill University and Royal Victoria HospitalMontrealCanada
  4. 4.Department of MedicineDuke University Medical CenterDurhamUSA
  5. 5.Department of MicrobiologyDuke University Medical CenterDurhamUSA
  6. 6.Département de Biologie MoleculaireUniversité Libre de BruxellesRhode-St-GenèseBelgium
  7. 7.Calcium Research LaboratoryRoyal Victoria HospitalMontrealCanada

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