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[Corrigendum] Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach.[勘误] 腺苷脱氨酶2基因变异在小儿腺苷脱氨酶2缺乏症中的作用:一种结构生物学方法。
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引用本文的文献

1
A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.人类腺苷脱氨酶 2 缺乏症的神经表现的叙述性综述。
J Clin Immunol. 2023 Nov;43(8):1916-1926. doi: 10.1007/s10875-023-01555-y. Epub 2023 Aug 7.

[勘误] 腺苷脱氨酶2基因变异在小儿腺苷脱氨酶2缺乏症中的作用:一种结构生物学方法。

[Corrigendum] Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach.

作者信息

Zervou Maria I, Goulielmos George N, Matalliotakis Michail, Matalliotaki Charoula, Spandidos Demetrios A, Eliopoulos Elias

机构信息

Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, 71003 Heraklion, Greece.

Laboratory of Clinical Virology, School of Medicine, University of Crete, 71003 Heraklion, Greece.

出版信息

Mol Med Rep. 2021 Jul;24(1). doi: 10.3892/mmr.2021.12128. Epub 2021 May 6.

DOI:10.3892/mmr.2021.12128
PMID:33955503
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8127056/
Abstract

Following the publication of the above article on modeling variants of adenosine deaminase 2 (ADA2), previously identified by Gibson [Kristen M. Gibson, Kimberly A. Morishita, Paul Dancey, Paul Moorehead, Britt Drögemöller, Xiaohua Han, Jinko Graham, Robert E. W. Hancock, Dirk Foell, Susanne Benseler, Rashid Luqmani, Rae S. M.Yeung, Susan Shenoi, Marek Bohm, Alan M. Rosenberg, Colin J. Ross, David A. Cabral and Kelly L. Brown: Identification of novel adenosine deaminase 2 gene variants and varied clinical phenotype in pediatric vasculitis. Arthritis Rheumatol 71: 1747‑1755, 2019], (reference 18 in the article), Dr. Kelly L. Brown, corresponding author of the Gibson article, drew to the authors' attention possible discrepancies identified therein. Upon examining the matters raised by Dr. K. Brown, the authors wish to publish a corrigendum for this article, and the following textual changes are required to the main text. The authors noted that it was not accurate to have referred to the p.Gly47Arg mutation as being 'novel' when this mutation was being specifically referred to, so the word 'novel' should have been omitted from the sentence in the abstract starting on line 17: 'This led to suggestions that the mutations found may affect the formation/stability of the homodimer or may influence the activity of the enzyme (15)'. However, Gibson  in their paper stated that ADA2 variant with the mutation Gly47Arg in sera from homozygous individuals was a dimer (18). Also, the word 'novel' should not have been included in the title of Fig. 3, and this should have appeared as follows: 'Figure 3. The DADA2‑associated mutation G47R in the ADA2 structure', and also, for consistency, the titles of Figs. 4 and 5 should have been written as 'Figure 4. The DADA2‑associated novel mutation R34W in the ADA2 structure' and 'Figure 5. The DADA2‑associated novel mutation A357T in the ADA2 structure'. The authors would like to add that the p.Arg34Trp variant's association with DADA2 has been previously identified in a paper by Kaljas : Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells. Kaijas Y, Liu C, Skaldin M, Wu C, Zhou Q, Lu Y, Aksentijevich I and Zavialow AV: Cell Mol Life Sci 74: 550‑570, 2017. In addition, the novel rare mutation identified by Gibson  as Arg9Trp associated with DADA2 lies in the signal peptide [stated by the authors as Arg8Trp because Met#1 (ATG start codon) is not included in the protein numbering] and is not obviously included in the three‑dimensional structure, and therefore the authors did not deal with it. So, the sentence in the Abstract starting on line 19 should have been written as follows: 'It was thus concluded that the Gly47Arg mutation affects the position and interaction of the dimer‑associated HN1 helical structure'. All references of Arg8Trp in the text, when referred to the Gibson article, should be changed to Arg9Trp as referred therein so as not to cause confusion. Finally, in the legend for Fig. 2, 'His358' should have been written as 'His356' (line 3), and for the purposes of clarification, where 'at the next Asn352 (2)' was written at the end of the same sentence, this text should be changed to 'at the neighboring glycosylated Asn378 [Asn352 in (2)]'. Similarly, on p. 880, the sentence at the end of the penultimate paragraph of the Results section should have been written as follows: 'This disruption could be transmitted to the neighboring His356 coordinated to the metal ion or affect the confirmed glycosylation at the neighboring glycosylated Asn378 [Asn352 in (2)]'. The authors thank Dr. K. L. Brown for drawing these matters to their attention, and emphasize that the resultant corrections and clarifications do not alter either the results or the main conclusions reported in the paper. [the original article was published in 21: 876‑882, 2020; DOI: 10.3892/mmr.2019.10862].

摘要

在上述关于腺苷脱氨酶2(ADA2)变体建模的文章发表后,该文章由吉布森等人撰写[克里斯汀·M·吉布森、金伯利·A·森下、保罗·丹西、保罗·穆尔黑德、布里特·德罗格默勒、韩晓华、金科·格雷厄姆、罗伯特·E·W·汉考克、德克·福尔、苏珊娜·本塞勒、拉希德·卢卡马尼、雷·S·M·杨、苏珊·谢诺伊、马雷克·博姆、艾伦·M·罗森伯格、科林·J·罗斯、大卫·A·卡布拉尔和凯利·L·布朗:小儿血管炎中新型腺苷脱氨酶2基因突变的鉴定及多样的临床表型。《关节炎与风湿病》71: 1747 - 1755,2019年](文章中的参考文献18),吉布森文章的通讯作者凯利·L·布朗博士提请作者注意其中发现的可能差异。在审查了K. 布朗博士提出的问题后,作者希望为本文发表一份勘误表,并且需要对正文进行以下文字修改。作者指出,当特别提及p.Gly47Arg突变时,将其称为“新型”并不准确,因此应从摘要第17行开始的句子中省略“新型”一词:“这引发了一种观点,即所发现的突变可能影响同二聚体的形成/稳定性,或者可能影响酶的活性(15)”。然而,吉布森等人在他们的论文中指出,来自纯合个体血清中具有Gly47Arg突变的ADA2变体是二聚体(18)。此外,图3的标题中不应包含“新型”一词,其应如下所示:“图3. ADA2结构中与DADA2相关的突变G47R”,并且为保持一致性,图4和图5的标题应写为“图4. ADA2结构中与DADA2相关的突变R34W”和“图5. ADA2结构中与DADA2相关的突变A357T”。作者想补充的是,p.Arg34Trp变体与DADA2的关联先前已在卡尔亚斯的一篇论文中被鉴定:人腺苷脱氨酶ADA1和ADA2与不同的免疫细胞亚群结合。卡尔亚斯Y、刘C、斯卡尔丁M、吴C、周Q、卢Y、阿克森蒂耶维奇I和扎维亚洛夫AV:《细胞与分子生命科学》74: 550 - 570,2017年。此外,吉布森等人鉴定的与DADA2相关的新型罕见突变Arg9Trp位于信号肽中[作者称其为Arg8Trp,因为蛋白质编号中不包括Met#1(ATG起始密码子)],并且未明显包含在三维结构中,因此作者未对其进行处理。所以,摘要第19行开始的句子应如下书写:“因此得出结论,Gly47Arg突变影响与二聚体相关的HN1螺旋结构的位置和相互作用”。当在正文中提及吉布森等人的文章时,所有关于Arg8Trp的引用都应按照其中所述改为Arg9Trp,以免引起混淆。最后,在图2的图例中,“His358”应写为“His356”(第3行),为了更清晰,在同一句子末尾写的“在下一个Asn352 (2)”应改为“在相邻的糖基化Asn378 [在(2)中为Asn352]”。同样,在第880页,结果部分倒数第二段末尾的句子应如下书写:“这种破坏可能传递给与金属离子配位的相邻His356,或者影响相邻糖基化Asn378 [在(2)中为Asn352]处已确认的糖基化”。作者感谢K. L. 布朗博士提醒他们注意这些问题,并强调由此产生的修正和澄清不会改变论文中报告的结果或主要结论。[原文发表于《分子医学报告》21: 876 - 882,2020年;DOI: 10.3892/mmr.2019.10862]