Continuing projects that transferred from one IC to another within the last year, that receive a new serial number, should be mentioned in the Project Description Section. Include contract-supported units which represent direct extensions of intramural research. The staff-years of effort obtained by contract should not be included. The summary should be understandable to individuals not familiar with the specialty. Please spell out any abbreviations the first time they are used.
Greek letters are acceptable.
Two forms of familial hyperparathyroidism have been characterized in detail. Familial hypocalciuric hypercalcemia is an autosomal dominant trait associated with abnormal interactions with calcium in parathyroid and kidney. The affected gene in most kindreds encodes a G-protein linked calcium sensor, and missense mutations have been identified in many kindreds. Analysis of blood and parathyroid tumor DNA has revealed that FMEN1 parathyroids often show clonal loss of alleles in the region of the FMEN1 gene on chromosome 11. Thus, the FMEN1 gene probably functions as a tumor suppresser gene, analogous to the retinoblastoma gene.