geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome


, : A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. Journal of Clinical Endocrinology and Metabolism 90(2): 878-883

HRPT2, the gene associated with hyperparathyroidism-jaw tumor (HPT-JT) syndrome, was previously mapped to 1q24-q32. It was recently cloned, and several germline mutations were found to predispose to HPT-JT syndrome. We sequenced the complete HRPT2 coding sequence and splice-junctional regions in a Korean family with HPT-JT syndrome and identified a novel germline mutation, IVS2-1G>A in intron 2, that caused the autosomal dominant trait of HPT-JT syndrome in this family. RT-PCR and sequencing of the transcripts revealed that this splicing mutation generated alternative splicing errors leading to the formation of two different transcripts, one with exon 3 deleted, the other lacking the first 23 bp of exon 3 due to the use of an internal splice acceptor in exon 3. Translation of both transcripts results in premature termination. In addition, we detected two novel somatic mutations of HRPT2 in malignant parathyroid tumors from the affected individuals. One, 85delG, causes premature termination; the other, an 18 bp in-frame deletion of 13_30delCTTAGCGTCCTGCGACAG, suggests that this region may be important in the development of the parathyroid carcinomas in HPT-JT syndrome. These findings provide further evidence that mutation of HRPT2 is associated with the formation of parathyroid tumors in HPT-JT syndrome.

US$19.90

PMID: 15613436

DOI: 10.1210/jc.2004-0991


Other references

Lonnberg, Einar, 1927: Remarks on the generic names Colymbus and Podiceps. Latham, in 1787, divided the Lin-nean genus Colymbus, 1758, correctly into 2 genera, Colymbus and Podiceps. It is quite clear that the former name was retained for the Loons and the latter given to the Grebes, and in both cases only one species da...

Harvie Brown, J.A., 1887: The Isle of May: its Faunal Position and Bird Life. P Soc. Edinb. : 303-325

Bennett, D.S.; Sullivan, M.Wolan.; Lewis, M., 2005: Young children's adjustment as a function of maltreatment, shame, and anger. Maltreated children are at increased risk for behavior problems. This study examines a model in which shame mediates the potential relation between maltreatment and anger, and anger mediates the potential relation between shame and behavior proble...

Struchkov, V.I.; Grigorian, A.V.; Gostishchev, V.K.; Tolstykh, P.I., 1975: Perspectives of the use of proteinase inhibitors. Khirurgiia: 39-43

Evans, D., 1973: Survival of European pine shoot moth on cut Christmas trees. In investigations on the survival on imported cut Christmas trees in Canada of larvae of Rhyacionia buoliana (Schiff.) (which is already established in ornamental trees and exotic nursery stock in southern coastal areas of British Columbia), 22 in...

Wilson Graham C.; Rucklidge John C.; Kilius Linas R.; Ding Gang Jian; Cresswell Richard G., 1994: In-situ analysis of PGE and gold in iron meteorites. Program with Abstracts - Geological Association of Canada(Mineralogical Association of Canada(Canadian Geophysical Union, Joint Annual Meeting 19: 119

Forleo, P.; Couchie, D.; Chabas, S.; Nunez, J., 1996: Four repeat high-mol-wt MAP2 forms in rat dorsal root ganglia. The high-mol-wt forms of brain microtubule-associated protein 2 (MAP2a/b) segregate within the dendrites during neuronal differentiation, whereas a low-mol-wt variant, MAP2c, is distributed within all the neuronal domains. Both MAP2b and MAP2c con...

Persson, C., 2015: Simvastatin inhibits smoke-induced airway epithelial injury: implications for COPD therapy. European Respiratory Journal 43(4): 1208-1211

Mojab, F.; Javidnia, K.; Nickavar, B.; Yazdani, D., 2007: GC-MS analysis of the essential oils of roots and leaves of Foeniculum vulgare Mill. Laboratory studies were conducted to determine the chemical composition of essential oils of roots and leaves from Foeniculum vulgare. The oils were isolated by hydrodistillation and characterized by GC and GC-MS. A total of 32 constituents amount...

Dinev, G., 1954: The influence of environmental conditions upon the size, and weight of cocoons and quality of a silk fiber of silkworm. The results of an experiment with temperature and atmospheric humidity upon the growth and life of silkworms are given, with practical information for the breeder.