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. 1981 May;78(5):3098–3102. doi: 10.1073/pnas.78.5.3098

Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity.

Z Farfel, V M Brothers, A S Brickman, F Conte, R Neer, H R Bourne
PMCID: PMC319507  PMID: 6265935

Abstract

Pseudohypoparathyroidism, type I (PHP-I) is an inherited disorder of primary resistance to multiple hormones that work by stimulating adenylate cyclase. In an attempt to clarify the mode of inheritance of PHP-I, we measured the activity of the N protein, a receptor-cyclase coupling component, in erythrocyte membranes. Erythrocyte N-protein activity was reduced by approximately 50% in erythrocytes of 15 PHP-I patients and was normal in 19 of their clinically normal first degree relatives. Reduced N-protein activity and the PHP-I phenotype in these families exhibited both dominant and recessive patterns of inheritance. This suggests that at least two distinct genetic loci are involved in inheritance of N-protein deficiency. In two additional families, dominant inheritance of the PHP-I phenotype was associated with normal activities of erythrocyte N protein. Thus, it appears that mutation of at least one additional genetic locus, not involving the N protein, can produce PHP-I.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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