| Analysis of aberrantly spliced HRPT2 transcripts and the resulting proteins in HPT-JT syndrome. | |
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MedLine Citation:
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PMID: 20541447 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The risk for parathyroid carcinoma is high in those with the HPT-JT syndrome. Parafibromin is a protein derived from HRPT2 gene and its inactivation has been coupled to familial form of parathyroid malignancy. We previously identified altered transcripts resulting from splice site mutation of the HRPT2 gene in a family with this syndrome. In the present work, we investigated the stability of the altered HRPT2 transcripts and translation products produced in the HPT-JT syndrome. We quantified the differentially expressed HRPT2 mRNAs using real-time RT-PCR and developed a novel monoclonal parafibromin antibody to study the expression of parafibromin in the HPT-JT syndrome. The relative quantification ratios of the wild type HRPT2 mRNA, 23 bp deleted HRPT2 mRNA, and 70 bp deleted HRPT2 mRNA in the HPT-JT syndrome were 0.68, 0.17 and 0.15, respectively. But endogenous parafibromin expression was not detectable in the HPT-JT syndrome carcinoma. The altered HRPT2 mRNAs resulting from the splice site mutation in the HPT-JT syndrome were stable, but their parafibromin translation products from the HPT-JT syndrome carcinoma were probably degraded rapidly. Additional studies that aim to fully characterize the consequences of altered HRPT2 mRNAs in HPT-JT syndrome are required to explore these possibilities. |
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Authors:
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Sungdae Moon; Ju-Hee Kim; Ju-Yun Shim; Yu-Bae Ahn; Ki-Ho Song; Bong-Yun Cha; Lee-So Maeng; Je-Ho Han |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-27 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 100 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-19 Completed Date: 2010-10-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 365-71 Citation Subset: IM |
Copyright Information:
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Crown Copyright 2010. Published by Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Internal Medicine, Incheon St. Mary's Hospital, The Catholic University of Korea, Seoul, South Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alternative Splicing
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genetics* Amino Acid Sequence Blotting, Western Fluorescent Antibody Technique Gene Expression Profiling Gene Expression Regulation Humans Hyperthyroidism / complications*, genetics*, pathology Jaw Neoplasms / complications*, genetics*, pathology Korea Male Molecular Sequence Data Mutant Proteins / chemistry, genetics*, metabolism RNA, Messenger / genetics, metabolism Republic of Korea Reverse Transcriptase Polymerase Chain Reaction Syndrome Tumor Suppressor Proteins / chemistry, genetics*, metabolism Young Adult |
| Chemical | |
Reg. No./Substance:
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0/CDC73 protein, human; 0/Mutant Proteins; 0/RNA, Messenger; 0/Tumor Suppressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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