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Molecular Cloning of a Putative Ca2+-Sensing Receptor cDNA from Human Kidney

https://doi.org/10.1006/bbrc.1995.2318Get rights and content

Abstract

A cDNA that encodes a putative Ca2+-sensing receptor (HuKCaSR) was cloned from human kidney with the use of the polymerase chain reaction. The predicted HuKCaSR protein consists of 1078 amino acids and shares 93.1 and 93.8% overall identity with the bovine parathyroid Ca2+-sensing receptor (BoPCaR1) and rat kidney Ca2+-sensing receptor (RaKCaR), respectively, with least similarity in the carboxyl-terminal regions. The HuKCaSR gene was mapped by fluorescence in situ hybridization to chromosome 3q21, at which region the gene responsible for familial hypocalciuric hypercalcemia has previously been localized by genetic linkage analysis. RNA blot analysis revealed HuKCaSR mRNA in human kidney, but not in brain, lung, liver, heart, skeletal muscle, or placenta.

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    The extracellular calcium sensing receptor (CASR) detects alterations in calcium levels and modulates secretion of PTH and urinary calcium excretion. Loss of function or inactivating CASR mutation causes decreased calcium sensitivity of parathyroid and kidney and PTH-dependent hypercalcaemia.21 Heterozygous inactivating CASR mutation causes familial hypocalciuric hypercalcaemia (FHH) type 1.22

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