Epigenetic regulation of hemoglobin switching in non-human primates.
Epigenetic regulation of hemoglobin switching in non-human primates.
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DOI：
10.1053/j.seminhematol.2020.12.001
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发表时间：
2021-01
影响因子：
3.6
通讯作者：
Lavelle D
中科院分区：
文献类型：
--
作者：
Molokie R;DeSimone J;Lavelle D
人血红蛋白转换描述了人β-珠蛋白基因复合体的五个β样珠蛋白基因(Hbe、HbG2、HbG1、Hbd和Hbb)的高度调控、顺序表达。这些β或β样珠蛋白基因在人类发育过程中的顺序激活，从胚胎早期到胎儿晚期(‘成人’)，以及在红系成熟过程中，按照它们在11号染色体上的5‘到3’位置的顺序发生。β-血红蛋白病是人类最常见的遗传性疾病，是HBb突变或其调节改变的疾病。由于其他类似β的珠蛋白基因可以潜在地取代有缺陷的HbB，因此许多翻译研究旨在了解和操纵人类β-珠蛋白基因复合体的顺序激活，以治疗β-血红蛋白疾病。非人灵长类动物为这种努力做出了至关重要的贡献，因为它们重现了在人类中观察到的血红蛋白生产的发育/成熟开关(小鼠不能模拟这种开关)。因此，对调节这种转换的可用药的表观遗传力有了有价值的见解。我们回顾了在非人类灵长类动物身上学到的重要教训，并补充了其他研究，并建议了合理的下一步行动。
Human hemoglobin switching describes the highly regulated, sequential expression of the five β-like globin genes (HBE, HBG2, HBG1, HBD and HBB) of the human β-globin gene complex. The sequential activation of these β or β-like globin genes during human development from early embryonic through late fetal (‘adult’) stages, and during erythroid maturation, occurs in an order corresponding to their 5’ to 3’ location on chromosome 11. The β-hemoglobinopathies are the most common inherited diseases in humanity, and are diseases of mutated HBB or its altered regulation. Since the other β-like globin genes can potentially substitute for defective HBB, much translational research is directed toward understanding and manipulating sequential activation at the human β-globin gene complex to treat β-hemoglobinopathies. Non-human primates provide a vital contribution to such efforts because of their recapitulation of the developmental/maturational switch in hemoglobin production as observed in humans (mice do not model this switch). Valuable insights into druggable epigenetic forces that mediate the switch have been thereby gained. We review important lessons learned in non-human primates, complemented by other studies, and suggest rational next steps.
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影响因子：
12.8
作者：
Lavelle, Donald;Chin, Janet;DeSimone, Joseph
通讯作者：
DeSimone, Joseph
影响因子：
10.1
作者：
Rivers, Angela;Vaitkus, Kestis;Lavelle, Donald
通讯作者：
Lavelle, Donald
影响因子：
2.6
作者：
Rivers, Angela;Vaitkus, Kestis;Lavelle, Donald
通讯作者：
Lavelle, Donald
影响因子：
10.5
作者：
Yu L;Jearawiriyapaisarn N;Lee MP;Hosoya T;Wu Q;Myers G;Lim KC;Kurita R;Nakamura Y;Vojtek AB;Rual JF;Engel JD
通讯作者：
Engel JD
DOI：
10.1182/asheducation-2003.1.14
发表时间：
2003-01-01
期刊：
Hematology. American Society of Hematology. Education Program
影响因子：
--
作者：
Atweh, George F;DeSimone, Joseph;Adams, Robert J
通讯作者：
Adams, Robert J