The MHC in the era of next-generation sequencing: Implications for bridging structure with function.
The MHC in the era of next-generation sequencing: Implications for bridging structure with function.
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DOI：
10.1016/j.humimm.2018.10.002
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发表时间：
2019-01
期刊：
影响因子：
2.7
通讯作者：
O'hUigin C
中科院分区：
文献类型：
--
作者：
Petersdorf EW;O'hUigin C
与人类基因组的其他区域相比，MHC仍然具有最多的疾病关联，即使在全基因组关联研究（GWAS）和单核苷酸多态性（SNP）时代。非编码变异及其对HLA同种异型表达水平的影响的分析为HLA疾病相关性和移植中同种异体反应性的潜在机制提供了新的线索。下一代测序（NGS）技术具有描绘HLA抗原识别位点（ARS）中具有非编码调节多态性的变体的相位的能力。这些关系对于理解HLA基因多样性的定性和定量意义至关重要。本文总结了目前对HLA基因座非编码区变异的认识，调节性变异对HLA表达的影响，进化在形成谱系特异性表达中的作用，以及HLA表达对疾病易感性和移植结局的影响。分阶段测序方法的MHC的作用，并在基础和应用免疫遗传学研究的MHC的未来方向的前景。
The MHC continues to have the most disease-associations compared to other regions of the human genome, even in the genome-wide association study (GWAS) and single nucleotide polymorphism (SNP) era. Analysis of non-coding variation and their impact on the level of expression of HLA allotypes has shed new light on the potential mechanisms underlying HLA disease associations and alloreactivity in transplantation. Next-generation sequencing (NGS) technology has the capability of delineating the phase of variants in the HLA antigen-recognition site (ARS) with non-coding regulatory polymorphisms. These relationships are critical for understanding the qualitative and quantitative implications of HLA gene diversity. This article summarizes current understanding of non-coding region variation of HLA loci, the consequences of regulatory variation on HLA expression, the role for evolution in shaping lineage-specific expression, and the impact of HLA expression on disease susceptibility and transplantation outcomes. A role for phased sequencing methods for the MHC, and perspectives for future directions in basic and applied immunogenetic studies of the MHC are presented.
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DOI：
10.4049/jimmunol.1103472
发表时间：
2012-05-01
期刊：
Journal of immunology (Baltimore, Md. : 1950)
影响因子：
--
作者：
Blais ME;Zhang Y;Rostron T;Griffin H;Taylor S;Xu K;Yan H;Wu H;James I;John M;Dong T;Rowland-Jones SL
通讯作者：
Rowland-Jones SL
DOI：
10.4049/jimmunol.1403234
发表时间：
2015-04-15
期刊：
Journal of immunology (Baltimore, Md. : 1950)
影响因子：
--
作者：
Apps R;Meng Z;Del Prete GQ;Lifson JD;Zhou M;Carrington M
通讯作者：
Carrington M
DOI：
10.1073/pnas.79.7.2342
发表时间：
1982-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
ARDEN, B;KLEIN, J
通讯作者：
KLEIN, J
影响因子：
4.5
作者：
Cai, James J.;Macpherson, J. Michael;Sella, Guy;Petrov, Dmitri A.
通讯作者：
Petrov, Dmitri A.
影响因子：
56.9
作者：
Apps, Richard;Qi, Ying;Carrington, Mary
通讯作者：
Carrington, Mary