{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:11:30Z","timestamp":1774645890277,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,4,5]],"date-time":"2012-04-05T00:00:00Z","timestamp":1333584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Overview\u2002<\/jats:bold> Glial cells missing B (GCMB) is a transcription factor that is expressed in the parathyroid hormone (PTH)\u2010secreting cells of the parathyroid glands. Several mutations in <jats:italic>GCMB<\/jats:italic> have been reported to cause hypoparathyroidism (HP). We identified a family with two individuals in two generations (mother and son), who are affected by autosomal\u2010dominant hypoparathyroidism (AD\u2010HP). A novel heterozygous mutation in exon 2 of <jats:italic>GCMB<\/jats:italic> was identified in both affected individuals that changes cysteine at position 106 of the putative DNA\u2010binding domain of GCMB to arginine (C106R).<\/jats:p><jats:p><jats:bold>Methods\u2002<\/jats:bold> We performed mutational analysis of the genes encoding GCMB, pre\u2010pro PTH, GATA3 and CaSR using polymerase chain reaction (PCR)\u2010amplified genomic DNA. The identified GCMB mutant was characterized by functional studies including nuclear localization, electrophoretic mobility shift assays (EMSA) and luciferase reporter assays, and homology modelling was performed to generate a three\u2010dimensional structural model for the DNA\u2010binding domain of GCMB to predict the structural consequences of the identified mutation.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> The C106R mutant of GCMB failed to interact with the DNA consensus recognition motif, as determined by EMSA. Furthermore, in comparison with wild\u2010type GCMB, the C106R mutant demonstrated reduced transactivation in luciferase reporter assays; however, the mutant GCMB failed to reduce the activity of the wild\u2010type protein. Consistent with the EMSA findings, homology modelling analysis suggested that replacement of cysteine 106 with arginine would interfere with DNA binding.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> We have identified a novel GCMB mutation that may explain AD\u2010HP in our family. However, the exact mechanism by which this heterozygous mutation leads to the disease in the described family remains to be elucidated.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2011.04256.x","type":"journal-article","created":{"date-parts":[[2011,11,8]],"date-time":"2011-11-08T15:59:58Z","timestamp":1320767998000},"page":"625-633","source":"Crossref","is-referenced-by-count":22,"title":["Identification and characterization of C106R, a novel mutation in the DNA\u2010binding domain of GCMB, in a family with autosomal\u2010dominant hypoparathyroidism"],"prefix":"10.1111","volume":"76","author":[{"given":"Hyon\u2010Seung","family":"Yi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Sil","family":"Eom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ie 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