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عنوان فارسی مقاله:
حذف این فریم جدید در پروتئین ریبوزومی S19 در یک نوزاد چینی با کم خونی دیاموند-بلک فان
عنوان انگلیسی مقاله:
A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia
سال انتشار : 2016
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مقدمه انگلیسی مقاله:
1. Introduction
Diamond Blackfan anemia (DBA) is a rare, congenital hypoplastic anemia with an estimated incidence of about six per million live births that usually presents early in infancy [1,2]. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, and low numbers of erythroid precursors in the bone marrow. In addition to anemia, congenital anomalies of the head and upper limbs in particular are present in about 40% of reported patients [3]. Although sporadic cases remain the most frequent (~75%) ones, familial cases with both dominant and recessive patterns of inheritance have been described. Corticosteroids are the recommended first line of treatment, however, approximately 60% of patients are steroid dependent, whereas 30% to 40% of the cases do not respond to prednisone [1]. The mainstay of treatment in DBA patients who do not respond to steroid treatment is erythrocyte transfusion. The major complication of regular transfusion is iron overload. An iron chelator must be administered as soon as the evidence of increased iron accumulation is observed. Allogeneic bone marrow transplant from an HLA matched sibling donor provides a reasonable alternative option. Transplantation early in the course of the disease would be expected to present a better outcome and is generally more successful in younger patients. However, those patients with DBA often lack HLA-identical siblings. DBA is also the first human disease associated with mutations in a ribosomal structural protein. Study of a patient with an X:19 chromosome translocation (46, XX, t(X;19)(p21;q13)) provided the first clue to the localization of the DBA gene [4]. In fact, following the finding that ribosomal protein S19 (RPS19) is involved in this disorder, N150 RPS19 mutations throughout the entire gene have been described in 25% of DBA patients, including missense and nonsense mutations, insertions, deletions, and also splice site defects. However, the genetic basis of DBA remains obscure, and whether haplo-insufficiency of RPS19 protein remains to be demonstrated in certain DBA cases. Therefore, screening DBA patients for RPS19 mutations and studying functional consequences of these mutations are warranted in further defining the role of RPS19 in cellular metabolism and DBA pathogenesis. Here, we report a novel frameshift mutation and its functional effects of its associate RPS19 protein. Our results demonstrate that the mutation can affect the nucleolar localization in peripheral blood mononuclear cells (PBMCs) although it does not affect the mRNA expression level of RPS19 protein in PBMCs.
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کلمات کلیدی:
A new in-frame deletion in ribosomal protein S19 in a Chinese infant ... test.pubpharm.de/vufind/Record/1984290398 - Translate this page A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. Enthalten in: Blood cells, molecules, & diseases : BCMD ... Nonsense-mediated and nonstop decay of ribosomal protein S19 ... onlinelibrary.wiley.com/doi/10.1002/humu.20117/abstract by A Chatr‐aryamontri - 2004 - Cited by 49 - Related articles Nov 2, 2004 - Mutations in the ribosomal protein (RP)S19 gene have been found in ... are decreased in the cells with allelic deletion and, to a variable extent, ... Tang YM[au] - PubMed Result dmd.aspetjournals.org/external-ref?access_num=Tang%20YM&link_type... 11: Zhang JY, Jia M, Zhao HZ, Luo ZB, Xu WQ, Shen HP, Tang YM. A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan ... Search Results - Rps19 - Easy Find ezfind.technion.ac.il/vufind/Combined/Results?lookfor=Rps19 A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia. Authors:Zhang, Jing-Ying, Jia, Ming, Zhao, Hai-Zhao, Luo, ... Genetic spectrum of dyschromatosis symmetrica hereditaria in ... pubmedcentralcanada.ca/pmcc/articles/PMC4759768/ by G Zhang - 2016 - Cited by 3 - Related articles Feb 18, 2016 - Keywords: Dyschromatosis symmetrica hereditaria, Mutation, Nonstop, ADAR1 ... a mutation analysis of the ADAR1 gene in seven Chinese families .... Theoretically, the Stop1227R mutation predictably results in an open reading frame .... Nonsense-mediated and nonstop decay of ribosomal protein S19 ... Functional analysis of a nonstop mutation in MITF gene ... - Nature www.nature.com › Journal home › Advance online publication › 30 March 2017 by J Sun - 2017 Mar 30, 2017 - Here, we identified a novel WS-associated mutation at the stop codon of MITF (p.X420Y) in a Chinese WS2 patient. ..... acids before the alterative in-frame stop codon, resulting in a mutant MITF protein .... Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
