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The Role of the Autoimmune Regulator Gene in the Control of MHC II Antigen-Processing and Presentation by Medullary Thymic Epithelial Cells 自身免疫调节基因在胸腺髓质上皮细胞MHC II抗原加工和递呈中的作用
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-22 DOI: 10.1111/tan.70516
A. C. Monteleone-Cassiano, R. D. Pinto, P. Ferreirinha, U. G. Cipriano, A. F. Gembre, V. L. D. Bonato, G. A. Passos, N. L. Alves, E. A. Donadi

The autoimmune regulator (AIRE) gene deficiency in humans causes the autoimmune polyglandular syndrome type 1 (APS-1). AIRE contributes to self-tolerance and prevents autoimmunity via the regulation of tissue-restricted antigen (TRA) expression in medullary thymic epithelial cells (mTECs). Using a murine Aire-deficient mTEC line (Aire−/−), we previously reported that Aire regulates cell adhesion genes, affecting homotypic mTEC/mTEC and heterotypic mTEC/thymocyte interaction in vitro. Transcriptional analysis comparing AireWT with Aire−/− mTECs indicates that Aire modulates antigen processing and presentation genes. Aire−/− mTECs, but not AireWT, exhibited delayed expression of MHC II and CD74 molecules, suggesting that Aire influences the MHC II presentation pathway. However, AireWT and Aire−/− mTECs did not directly present the OVA323–339 peptide to OT-II TCR transgenic single-positive CD4+ T cells. When cocultured with splenocytes and dendritic cells, both mTEC types induce T cell activation and present the OVA323–339 peptide to OT-II TCR transgenic T cells. To further understand Aire's role in MHC II antigen processing/presentation, we evaluated the expression of the MHC II transactivator (Ciita), IFN-γ receptors and IFN-γ-induced GTPases, as well as lysosome and cathepsin L activities. After IFN-γ treatment, Aire−/− mTECs, but not AireWT, delayed the expression of Ciita. Our results suggest that Aire controls some steps of the MHC II antigen processing/presentation-related proteins.

人类自身免疫调节因子(AIRE)基因缺失导致自身免疫性多腺综合征1型(APS-1)。AIRE通过调节胸腺髓样上皮细胞(mTECs)中的组织限制性抗原(TRA)表达,促进自身耐受并防止自身免疫。利用小鼠空气缺陷mTEC细胞系(Aire-/-),我们之前报道了Aire调节细胞粘附基因,在体外影响同型mTEC/mTEC和异型mTEC/胸腺细胞相互作用。通过比较AireWT与Aire-/- mTECs的转录分析表明,Aire调节抗原加工和递呈基因。Aire-/- mTECs,而不是AireWT,表现出MHC II和CD74分子的延迟表达,这表明Aire影响MHC II呈递途径。然而,AireWT和Aire-/- mtec并不直接将OVA323-339肽呈现给OT-II TCR转基因单阳性CD4+ T细胞。当与脾细胞和树突状细胞共培养时,两种mTEC类型均诱导T细胞活化,并向OT-II TCR转基因T细胞呈递OVA323-339肽。为了进一步了解Aire在MHC II抗原加工/呈递中的作用,我们评估了MHC II反激活子(Ciita)、IFN-γ受体和IFN-γ诱导的gtp酶的表达,以及溶酶体和组织蛋白酶L的活性。IFN-γ处理后,Aire-/- mTECs延迟Ciita的表达,而AireWT不延迟。我们的研究结果表明,Aire控制MHC II抗原加工/呈递相关蛋白的某些步骤。
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引用次数: 0
The Novel HLA-A*02:1259 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual 中国人新型HLA-A*02:1259等位基因的Sanger双脱氧核苷酸测序
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-22 DOI: 10.1111/tan.70498
Yao-gong Wu, Ming-ming Wang, Yi-bing Yang, Pei-pei Ding, Heng Mei

HLA-A*02:1259 differs from HLA-A*02:07:01:01 by two non-synonymous nucleotide changes in exon 3.

HLA-A*02:1259与HLA-A*02:07:01:01的区别在于外显子3的两个非同义核苷酸变化。
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引用次数: 0
A New Allele HLA-DQB1*06:02:01:42 Identified by HLA-Targeted Third-Generation Sequencing in a Chinese Individual HLA-DQB1*06:02:01:42新等位基因的第三代测序鉴定
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-18 DOI: 10.1111/tan.70517
Jindou Wang, Guiliang Shen, Xinyu Wang, Peng Gao, Yuanli Zhao

HLA-DQB1*06:02:01:42 differs from HLA-DQB1*06:02:01:01 by one nucleotide change in intron 1.

HLA-DQB1*06:02:01:42与HLA-DQB1*06:02:01:01的区别在于内含子1上的一个核苷酸变化。
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引用次数: 0
Characterisation of the Novel HLA-DPA1*02:164 Allele Identified by Next Generation Sequencing 新HLA-DPA1*02:164等位基因的下一代测序鉴定
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-17 DOI: 10.1111/tan.70514
John Jeongseok Yang, Sohyeon Eom, Eun-Suk Kang

HLA-DPA1*02:164 differs from HLA-DPA1*02:02:02:01 by a non-synonymous nucleotide substitution in exon 3 and an intronic nucleotide substitution in intron 1.

HLA-DPA1* 02:02:164与HLA-DPA1*02:02:02:01的区别在于外显子3的非同义核苷酸替换和内含子1的内含子核苷酸替换。
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引用次数: 0
The Novel HLA-B*46:106 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual 中国人新型HLA-B*46:106等位基因的Sanger双脱氧核苷酸测序
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-17 DOI: 10.1111/tan.70521
Jie Wang, Dong Mei Li, Yu Jie Wen, Yan Jun Jia, Tie Cheng Sun

The HLA-B*46:106 allele differs from HLA-B*46:01:01:01 by one nucleotide substitution in codon 66 in exon 2.

HLA-B*46:106等位基因与HLA-B*46:01:01:01的不同之处在于外显子2密码子66的一个核苷酸替换。
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引用次数: 0
Identification of Three Novel HLA-B Alleles: HLA-B*07:513, -B*07:514 and -B*50:01:25 HLA-B*07:513、-B*07:514和-B*50:01:25三个新等位基因的鉴定。
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-17 DOI: 10.1111/tan.70520
Anastasiia Ananeva, Iuliia Sergeeva, Gulnaz Akhmetshina, Elena Shagimardanova

Three novel HLA-B alleles identified in haematopoietic stem cell donors by NGS: HLA-B*07:513, HLA-B*07:514 and HLA-B*50:01:25.

NGS在造血干细胞供体中鉴定出三个新的HLA-B等位基因:HLA-B*07:513、HLA-B*07:514和HLA-B*50:01:25。
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引用次数: 0
Characterisation of the Novel HLA-DQB1 Allele, HLA-DQB1*03:533 by Next Generation Sequencing 新HLA-DQB1等位基因HLA-DQB1*03:533的下一代测序鉴定
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-17 DOI: 10.1111/tan.70510
Sooho Yu, John Jeongseok Yang, Sohyeon Eom, Eun-Suk Kang

HLA-DQB1*03:533 differs from HLA-DQB1*03:02:01:01 by a non-synonymous nucleotide substitution in exon 3.

HLA-DQB1*03:533与HLA-DQB1*03:02:01:01的区别在于外显子3的非同义核苷酸替换。
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引用次数: 0
The Novel HLA-C*07:640:02 Allele, Identified by Sanger Dideoxy Nucleotide Sequencing in a Chinese Individual 中国人新型HLA-C*07:64:02等位基因的Sanger双脱氧核苷酸测序
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-15 DOI: 10.1111/tan.70511
Chuan-ming Lin, Meng-er Wang, Yan-ping Diao, Pei-pei Ding, Shui-ling Xie

HLA-C*07:640:02 differs from HLA-C*07:640:01 by a single non-synonymous nucleotide change in exon 3.

HLA-C*07:64:02与HLA-C*07:64:01的不同之处在于外显子3的单个非同义核苷酸变化。
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引用次数: 0
Characterisation of a Novel HLA-A*02:558 Allele by Sequencing-Based Typing in a Chinese Individual 中国人HLA-A*02:558等位基因的序列分型分析
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-15 DOI: 10.1111/tan.70513
Jian-Ping Li, Xu Zhang, Feng-Qiu Lin, Xiao-Feng Li

HLA-A*02:558 differs from HLA-A*02:06:01:01 by one nucleotide substitution in codon 96 in exon 3.

HLA-A*02:558与HLA-A*02:06:01:01在外显子3密码子96上有一个核苷酸替换。
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引用次数: 0
Identification of the Novel HLA-A*02:559 Allele by Sanger Dideoxy Nucleotide Sequencing 新的HLA-A*02:559等位基因的Sanger双脱氧核苷酸测序鉴定。
IF 4.1 4区 医学 Q2 CELL BIOLOGY
HLA
Pub Date : 2025-12-15 DOI: 10.1111/tan.70512
Xiao-Feng Li, Qiang Wang, Xu Zhang, Feng-Qiu Lin, Jian-Ping Li

HLA-A*02:559 differs from HLA-A*02:01:01:01 by one nucleotide substitution in codon 188 in exon 4.

HLA-A*02:559与HLA-A*02:01:01:01在第4外显子密码子188上有一个核苷酸替换。
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引用次数: 0
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HLA
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