Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
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DOI：
10.1016/j.isci.2021.103665
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发表时间：
2022-01-21
期刊：
影响因子：
5.8
通讯作者：
O'Connor TD
中科院分区：
文献类型：
--
作者：
Bateman NW;Tarney CM;Abulez TS;Hood BL;Conrads KA;Zhou M;Soltis AR;Teng PN;Jackson A;Tian C;Dalgard CL;Wilkerson MD;Kessler MD;Goecker Z;Loffredo J;Shriver CD;Hu H;Cote M;Parker GJ;Segars J;Al-Hendy A;Risinger JI;Phippen NT;Casablanca Y;Darcy KM;Maxwell GL;Conrads TP;O'Connor TD
表征疾病相关患者组织中与祖先相关的肽变异代表了将患者祖先与疾病发病机制联系起来的基础步骤。在欧洲、非洲和东亚人群中表现出高等位基因频率的色氨酸肽中编码错义替换的非同义单核苷酸多态性，被称为肽祖先信息标记（pAIMs），从1000个基因组中优先排序。在计算机分析中发现，只需20个paim就可以确定与bb0 - 260K snp相似的祖先比例（R2 = 0.99）。对bbbb100人子宫内膜癌细胞系和子宫平滑肌瘤组织进行多重蛋白质组学分析，定量测定了与患者种族和基因型确认的祖先相关的62个pAIMs。候选基因包括先前与非洲和欧洲人群维生素D水平改变相关的GC维生素D结合蛋白的D451E替代。pAIMs将支持广义的蛋白质祖先评估，以及研究祖先对人类蛋白质组的影响以及这与子宫肿瘤发病机制的关系。pAIMs编码来自欧洲、非洲和东亚人群的替换。计算机分析表明，~ 20个pAIMs可以确定祖先，类似于100万个26k个snp， pAIMs可以在人类组织基因组学的蛋白质组学数据中估计群体水平的祖先；精密医学;蛋白质组学;Proteogenomics
Characterization of ancestry-linked peptide variants in disease-relevant patient tissues represents a foundational step to connect patient ancestry with disease pathogenesis. Nonsynonymous single-nucleotide polymorphisms encoding missense substitutions within tryptic peptides exhibiting high allele frequencies in European, African, and East Asian populations, termed peptide ancestry informative markers (pAIMs), were prioritized from 1000 genomes. In silico analysis identified that as few as 20 pAIMs can determine ancestry proportions similarly to >260K SNPs (R2 = 0.99). Multiplexed proteomic analysis of >100 human endometrial cancer cell lines and uterine leiomyoma tissues combined resulted in the quantitation of 62 pAIMs that correlate with patient race and genotype-confirmed ancestry. Candidates include a D451E substitution in GC vitamin D-binding protein previously associated with altered vitamin D levels in African and European populations. pAIMs will support generalized proteoancestry assessment as well as efforts investigating the impact of ancestry on the human proteome and how this relates to the pathogenesis of uterine neoplasms. pAIMs encode substitutions from European, African, and East Asian populations In silico analysis shows ∼20 pAIMs can determine ancestry similarly as >260K SNPs pAIMs can estimate population-level ancestry in proteomic data from human tissues Genomics; Precision medicine; Proteomics; Proteogenomics
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影响因子：
64.8
作者：
Kim, Min-Sik;Pinto, Sneha M.;Getnet, Derese;Nirujogi, Raja Sekhar;Manda, Srikanth S.;Chaerkady, Raghothama;Madugundu, Anil K.;Kelkar, Dhanashree S.;Isserlin, Ruth;Jain, Shobhit;Thomas, Joji K.;Muthusamy, Babylakshmi;Leal-Rojas, Pamela;Kumar, Praveen;Sahasrabuddhe, Nandini A.;Balakrishnan, Lavanya;Advani, Jayshree;George, Bijesh;Renuse, Santosh;Selvan, Lakshmi Dhevi N.;Patil, Arun H.;Nanjappa, Vishalakshi;Radhakrishnan, Aneesha;Prasad, Samarjeet;Subbannayya, Tejaswini;Raju, Rajesh;Kumar, Manish;Sreenivasamurthy, Sreelakshmi K.;Marimuthu, Arivusudar;Sathe, Gajanan J.;Chavan, Sandip;Datta, Keshava K.;Subbannayya, Yashwanth;Sahu, Apeksha;Yelamanchi, Soujanya D.;Jayaram, Savita;Rajagopalan, Pavithra;Sharma, Jyoti;Murthy, Krishna R.;Syed, Nazia;Goel, Renu;Khan, Aafaque A.;Ahmad, Sartaj;Dey, Gourav;Mudgal, Keshav;Chatterjee, Aditi;Huang, Tai-Chung;Zhong, Jun;Wu, Xinyan;Shaw, Patrick G.;Freed, Donald;Zahari, Muhammad S.;Mukherjee, Kanchan K.;Shankar, Subramanian;Mahadevan, Anita;Lam, Henry;Mitchell, Christopher J.;Shankar, Susarla Krishna;Satishchandra, Parthasarathy;Schroeder, John T.;Sirdeshmukh, Ravi;Maitra, Anirban;Leach, Steven D.;Drake, Charles G.;Halushka, Marc K.;Prasad, T. S. Keshava;Hruban, Ralph H.;Kerr, Candace L.;Bader, Gary D.;Iacobuzio-Donahue, Christine A.;Gowda, Harsha;Pandey, Akhilesh
通讯作者：
Pandey, Akhilesh
影响因子：
6.2
作者：
Bateman, Nicholas W.;Dubil, Elizabeth A.;Maxwell, G. Larry
通讯作者：
Maxwell, G. Larry
影响因子：
6.2
作者：
Kessler, Michael D.;Bateman, Nicholas W.;O'Connor, Timothy D.
通讯作者：
O'Connor, Timothy D.
影响因子：
12.3
作者：
Tennessen JA;O'Connor TD;Bamshad MJ;Akey JM
通讯作者：
Akey JM
影响因子：
3.5
作者：
DeVry, CG;Clarke, S
通讯作者：
Clarke, S