Janicic N, Soliman E, Pausova Z, Seldin M F, Rivière M, Szpirer J, Szpirer C, Hendy G N
Calcium Research Laboratory, McGill University, Montreal, Quebec, Canada.
Mamm Genome. 1995 Nov;6(11):798-801. doi: 10.1007/BF00539007.
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.
钙敏感受体（CASR）是G蛋白偶联受体家族的成员，在甲状旁腺和肾脏中均有表达，并帮助这些器官感知细胞外钙水平。已在家族性低钙血症高钙血症（FHH）和新生儿重症甲状旁腺功能亢进症（NSHPT）中描述了CASR基因的失活突变。已在常染色体显性遗传性甲状旁腺功能减退症和家族性低钙血症中描述了CASR基因的激活突变。通过荧光原位杂交（FISH）将人类CASR基因定位于染色体（Chr）3q13.3 - 21。通过体细胞杂交分析，该基因定位于人类Chr 3（未观察到与其他染色体的杂交）和大鼠Chr 11。通过种间回交分析，Casr基因与小鼠Chr 16上的D16Mit4分离。这些发现扩展了我们对人类Chr 3、大鼠Chr 11和小鼠Chr 16同线性保守性的认识。
