{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T21:49:07Z","timestamp":1648763347040},"reference-count":51,"publisher":"The Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,6,1]]},"abstract":"<jats:p>Pseudohypoparathyroidism 1b (PHP 1b) is characterized by specific resistance of target tissues to PTH, but no mutations in the PTH\/PTH-related peptide (PTHrP) receptor gene have been identified. To investigate the basis for defective PTH signaling, we used polymorphic markers in or near the genes encoding PTH and its receptors to perform linkage analysis between these loci and PHP 1b. Two multiplex PHP 1b families (families M and K) were informative for an intragenic polymorphism in exon 13 of the PTH\/PTHrP receptor gene detected by PCR amplification and resolved by denaturing gradient gel electrophoresis. Linkage analysis revealed discordance of the PTH\/PTHrP receptor with PHP1b. One PHP 1b kindred (family M) was informative for a intragenic polymorphism in exon 3 of the PTH gene detected by PCR amplification and resolved by denaturing gradient gel electrophoresis. The PTH gene polymorphism segregation was discordant with PHP 1b. Probands from each family had normal PTH genes by direct sequence analysis. In three PHP 1b kindreds, we analyzed simple sequence polymorphisms in three microsatellite markers flanking the PTH type 2 receptor locus located at 2q33. Linkage analysis demonstrated no linkage. In conclusion, neither the PTH gene nor the PTH receptor genes (type 1 and 2) are linked to PHP 1b.<\/jats:p>","DOI":"10.1210\/jcem.85.6.6620","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:05:45Z","timestamp":1389200745000},"page":"2239-2246","source":"Crossref","is-referenced-by-count":0,"title":["Pseudohypoparathyroidism 1b: Exclusion of Parathyroid Hormone and Its Receptors as Candidate Disease Genes1"],"prefix":"10.1210","volume":"85","author":[{"given":"Suzanne M.","family":"Jan de Beur","sequence":"first","affiliation":[{"name":"Departments of Medicine (S.M.J.d.B., M.A.L.), Baltimore, Maryland 21287"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Lin","family":"Ding","sequence":"additional","affiliation":[{"name":"Pediatrics (C.-L.D., M.A.L.), Baltimore, Maryland 21287"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele C.","family":"LaBuda","sequence":"additional","affiliation":[{"name":"Psychiatry (M.C.L.), The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ted B.","family":"Usdin","sequence":"additional","affiliation":[{"name":"National Institute of Mental Health, National Institutes of Health (T.B.U.), Bethesda, Maryland 20892"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael A.","family":"Levine","sequence":"additional","affiliation":[{"name":"Departments of Medicine (S.M.J.d.B., M.A.L.), Baltimore, Maryland 21287"},{"name":"Pediatrics (C.-L.D., M.A.L.), Baltimore, Maryland 21287"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","reference":[{"key":"2020071617385433700_R1","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1172\/JCI106149","article-title":"Pseudohypoparathyroidism: defective excretion of 3\u2032,5\u2032-AMP in response to parathyroid hormone.","volume":"48","author":"Chase","year":"1969","journal-title":"J Clin Invest"},{"key":"2020071617385433700_R2"},{"key":"2020071617385433700_R3","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1073\/pnas.85.2.617","article-title":"Genetic deficiency of the \u03b1 subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.","volume":"85","author":"Levine","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071617385433700_R4","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1172\/JCI110971","article-title":"Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I: a cause of impaired synthesis of 3\u2032:5\u2032-cyclic AMP by intact and broken cells.","volume":"72","author":"Levine","year":"1983","journal-title":"J Clin Invest"},{"key":"2020071617385433700_R5","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1203\/00006450-197501000-00003","article-title":"Excessive thyrotropin-releasing hormone in pseudohypoparathyroidism.","volume":"9","author":"Werder","year":"1975","journal-title":"Pediatr Res"},{"key":"2020071617385433700_R6","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1210\/jcem-33-5-822","article-title":"Thyroid dysfunction in pseudohypoparathyroidism.","volume":"33","author":"Marx","year":"1971","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R7","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1530\/acta.0.0880321","article-title":"Partial gonadotrophin-resistance in pseudohypoparathyroidism.","volume":"88","author":"Wolfsdorf","year":"1978","journal-title":"Acta Endocrinol (Copenh)"},{"key":"2020071617385433700_R8","first-page":"922","article-title":"Pseudohypoparathyroidism: an example of \u201cSeabright-Bantam syndrome.\u201d","volume":"30","author":"Albright","year":"1942","journal-title":"Endocrinology"},{"key":"2020071617385433700_R9","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/0002-9343(83)91008-2","article-title":"Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein.","volume":"74","author":"Levine","year":"1983","journal-title":"Am J Med"},{"key":"2020071617385433700_R10","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/0002-9343(80)90270-3","article-title":"Skeletal responsiveness in pseudohypoparathyroidism: a spectrum of clinical disease.","volume":"68","author":"Kidd","year":"1980","journal-title":"Am J Med"},{"key":"2020071617385433700_R11","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/jbmr.5650080111","article-title":"Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone.","volume":"8","author":"Murray","year":"1993","journal-title":"J Bone Miner Res"},{"key":"2020071617385433700_R12","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1210\/jcem-71-5-1208","article-title":"Immunochemical analysis of the \u03b1-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright\u2019s hereditary osteodystrophy.","volume":"71","author":"Patten","year":"1990","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R13","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/0006-291X(80)90563-X","article-title":"Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism.","volume":"94","author":"Levine","year":"1980","journal-title":"Biochem Biophys Res Commun"},{"key":"2020071617385433700_R14","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1126\/science.239.4839.487","article-title":"Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.","volume":"239","author":"Saiki","year":"1988","journal-title":"Science"},{"key":"2020071617385433700_R15","first-page":"1560","article-title":"Heterogeneous mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.","volume":"76","author":"Miric","year":"1993","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R16","doi-asserted-by":"crossref","first-page":"4008","DOI":"10.1093\/nar\/19.14.4008","article-title":"\u201cTouchdown\u201d PCR to circumvent spurious priming during gene amplification.","volume":"19","author":"Don","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"2020071617385433700_R17","first-page":"252","article-title":"Faster sequential genetic linkage computations.","volume":"53","author":"Cottingham Jr","year":"1993","journal-title":"Am J Hum Genet"},{"key":"2020071617385433700_R18","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000154222","article-title":"Avoiding recomputation in linkage analysis.","volume":"44","author":"Schaffer","year":"1994","journal-title":"Hum Hered"},{"key":"2020071617385433700_R19","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1159\/000154358","article-title":"Faster linkage analysis computations for pedigrees with loops or unused alleles.","volume":"46","year":"1996","journal-title":"Hum Hered"},{"key":"2020071617385433700_R20","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers.","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"2020071617385433700_R21","article-title":"Handbook of human genetic linkage","author":"Terwilliger","year":"1994"},{"key":"2020071617385433700_R22","first-page":"867","article-title":"Nonparametric simulation-based statistics for detecting linkage in general pedigrees.","volume":"58","author":"Davis","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2020071617385433700_R23","first-page":"1611","article-title":"Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)\/PTH-related peptide receptor gene.","volume":"80","author":"Schipani","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R24","first-page":"509","article-title":"Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism.","volume":"74","author":"Miric","year":"1992","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R25","doi-asserted-by":"crossref","first-page":"13030","DOI":"10.1016\/S0021-9258(19)38614-4","article-title":"Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.","volume":"268","author":"Rosenthal","year":"1993","journal-title":"J Biol Chem"},{"key":"2020071617385433700_R26","first-page":"97","article-title":"Resistance to thyrotropin and other abnormalities of the thyrotropin receptor.","volume":"51","author":"Refetoff","year":"1996","journal-title":"Recent Prog Horm Res"},{"key":"2020071617385433700_R27","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1038\/ng0196-88","article-title":"Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.","volume":"12","author":"Wajnrajch","year":"1996","journal-title":"Nat Genet"},{"key":"2020071617385433700_R28","first-page":"432","article-title":"Entensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in th eGH-releasing hormone receptor gene.","volume":"83","author":"Netchine","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R29","first-page":"4065","article-title":"Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: dwarfism of Sindh.","volume":"83","author":"Maheshwari","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R30","first-page":"917","article-title":"Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.","volume":"84","author":"Salvatori","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R31","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1210\/jcem-71-3-631","article-title":"The resistance to parathyroid hormone of fibroblasts from some patients with type Ib pseudohypoparathyroidism is reversible with dexamethasone.","volume":"71","author":"Silve","year":"1990","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R32","first-page":"965","article-title":"Expression and modulation of the parathyroid hormone (PTH)\/PTH- related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism.","volume":"80","author":"Suarez","year":"1995","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R33","first-page":"2554","article-title":"Absence of mutations in parathyroid hormone (PTH)\/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib.","volume":"81","author":"Fukumoto","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R34"},{"key":"2020071617385433700_R35","first-page":"1031","article-title":"Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)\/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b.","volume":"82","author":"Bettoun","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R36"},{"key":"2020071617385433700_R37","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1172\/JCI2918","article-title":"Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.","volume":"102","author":"Jobert","year":"1998","journal-title":"J Clin Invest"},{"key":"2020071617385433700_R38","doi-asserted-by":"crossref","first-page":"3365","DOI":"10.1210\/jcem.83.9.5245","article-title":"A homozygous inactivating mutation in the parathyroid hormone\/parathyroid hormone related peptide receptor causing Blomstrand chondrodysplasia.","volume":"83","author":"Zhang","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R39","doi-asserted-by":"crossref","first-page":"15455","DOI":"10.1074\/jbc.270.26.15455","article-title":"Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2.","volume":"270","author":"Usdin","year":"1995","journal-title":"J Biol Chem"},{"key":"2020071617385433700_R40","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1006\/geno.1996.0532","article-title":"Assignment of the human PTH2 receptor gene (PTHR2) to chromosome 2q33 by fluorescence in situ hybridization.","volume":"37","author":"Usdin","year":"1996","journal-title":"Genomics"},{"key":"2020071617385433700_R41","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1210\/jcem-53-6-1105","article-title":"Dissociation of parathyroid hormone bioactivity and immunoactivity in pseudohypoparathyroidism type I.","volume":"53","author":"Deuxchaisnes","year":"1981","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R42","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1210\/jcem-67-6-1237","article-title":"The metatarsal cytochemical bioassay of parathyroid hormone: validation, specificity, and application to the study of pseudohypoparathyroidism type I.","volume":"67","author":"Bradbeer","year":"1988","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R43","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1210\/jcem-54-6-1274","article-title":"Inhibition of cytochemical bioactivity of parathyroid hormone by plasma in pseudohypoparathyroidism type I.","volume":"54","author":"Loveridge","year":"1982","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R44","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1210\/jcem-61-2-328","article-title":"Examination of circulating parathyroid hormone in pseudhypoparathyroidism.","volume":"61","author":"Mitchell","year":"1985","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R45","doi-asserted-by":"crossref","first-page":"4287","DOI":"10.1210\/jcem.84.11.6236","article-title":"A novel immunoradiometric assay detects full-length human PTH but not amino-terminally truncated fragments: implications for PTH measurements in renal failure.","volume":"84","author":"John","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R46"},{"key":"2020071617385433700_R47"},{"key":"2020071617385433700_R48","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1056\/NEJM199501193320305","article-title":"Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.","volume":"332","author":"Sunthornthepvarakui","year":"1995","journal-title":"N Engl J Med"},{"key":"2020071617385433700_R49","first-page":"3933","article-title":"Resistance to TSH in three families is not associated with mutations in the TSH receptor or TSH.","volume":"82","author":"Xie","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"2020071617385433700_R50","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1007\/s004390050335","article-title":"Genetic and linkage analysis of familial congential hypothyroidism: exclusion of linkage to the TSH gene.","volume":"99","author":"Ahlbom","year":"1997","journal-title":"Hum Genet"},{"key":"2020071617385433700_R51","doi-asserted-by":"crossref","first-page":"11798","DOI":"10.1073\/pnas.95.20.11798","article-title":"The gene responsible for pseudohypoparathyroidism type 1b is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.","volume":"95","author":"Jueppner","year":"1998","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/85\/6\/2239\/9177076\/jcem2239.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/85\/6\/2239\/9177076\/jcem2239.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T00:04:31Z","timestamp":1647907471000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/85\/6\/2239\/2852013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,6,1]]},"references-count":51,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2000,6,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcem.85.6.6620","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,6,1]]}}}