The genetics of human hematopoiesis and its disruption in disease
Abstract Hematopoiesis, or the process of blood cell production, is a paradigm of multi‐lineage cellular differentiation that has been extensively studied, yet in many aspects remains incompletely understood. Nearly all clinically measured hematopoietic traits exhibit extensive variation and are hig...
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| Format: | Article |
| Language: | English |
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Springer Nature
2019-07-01
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| Series: | EMBO Molecular Medicine |
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| Online Access: | https://doi.org/10.15252/emmm.201910316 |
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| author | Erik L Bao Aaron N Cheng Vijay G Sankaran |
| author_facet | Erik L Bao Aaron N Cheng Vijay G Sankaran |
| author_sort | Erik L Bao |
| collection | DOAJ |
| description | Abstract Hematopoiesis, or the process of blood cell production, is a paradigm of multi‐lineage cellular differentiation that has been extensively studied, yet in many aspects remains incompletely understood. Nearly all clinically measured hematopoietic traits exhibit extensive variation and are highly heritable, underscoring the importance of genetic variation in these processes. This review explores how human genetics have illuminated our understanding of hematopoiesis in health and disease. The study of rare mutations in blood and immune disorders has elucidated novel roles for regulators of hematopoiesis and uncovered numerous important molecular pathways, as seen through examples such as Diamond‐Blackfan anemia and the GATA2 deficiency syndromes. Additionally, population studies of common genetic variation have revealed mechanisms by which human hematopoiesis can be modulated. We discuss advances in functionally characterizing common variants associated with blood cell traits and discuss therapeutic insights, such as the discovery of BCL11A as a modulator of fetal hemoglobin expression. Finally, as genetic techniques continue to evolve, we discuss the prospects, challenges, and unanswered questions that lie ahead in this burgeoning field. |
| format | Article |
| id | doaj-art-fd1fc1258f84423a82df2e0adecc738c |
| institution | Kabale University |
| issn | 1757-4676 1757-4684 |
| language | English |
| publishDate | 2019-07-01 |
| publisher | Springer Nature |
| record_format | Article |
| series | EMBO Molecular Medicine |
| spelling | doaj-art-fd1fc1258f84423a82df2e0adecc738c2025-08-20T03:46:11ZengSpringer NatureEMBO Molecular Medicine1757-46761757-46842019-07-0111811310.15252/emmm.201910316The genetics of human hematopoiesis and its disruption in diseaseErik L Bao0Aaron N Cheng1Vijay G Sankaran2Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical SchoolDivision of Hematology/Oncology, Boston Children's Hospital, Harvard Medical SchoolDivision of Hematology/Oncology, Boston Children's Hospital, Harvard Medical SchoolAbstract Hematopoiesis, or the process of blood cell production, is a paradigm of multi‐lineage cellular differentiation that has been extensively studied, yet in many aspects remains incompletely understood. Nearly all clinically measured hematopoietic traits exhibit extensive variation and are highly heritable, underscoring the importance of genetic variation in these processes. This review explores how human genetics have illuminated our understanding of hematopoiesis in health and disease. The study of rare mutations in blood and immune disorders has elucidated novel roles for regulators of hematopoiesis and uncovered numerous important molecular pathways, as seen through examples such as Diamond‐Blackfan anemia and the GATA2 deficiency syndromes. Additionally, population studies of common genetic variation have revealed mechanisms by which human hematopoiesis can be modulated. We discuss advances in functionally characterizing common variants associated with blood cell traits and discuss therapeutic insights, such as the discovery of BCL11A as a modulator of fetal hemoglobin expression. Finally, as genetic techniques continue to evolve, we discuss the prospects, challenges, and unanswered questions that lie ahead in this burgeoning field.https://doi.org/10.15252/emmm.201910316blood disordersgeneticsgenome‐wide association studieshematopoiesis |
| spellingShingle | Erik L Bao Aaron N Cheng Vijay G Sankaran The genetics of human hematopoiesis and its disruption in disease EMBO Molecular Medicine blood disorders genetics genome‐wide association studies hematopoiesis |
| title | The genetics of human hematopoiesis and its disruption in disease |
| title_full | The genetics of human hematopoiesis and its disruption in disease |
| title_fullStr | The genetics of human hematopoiesis and its disruption in disease |
| title_full_unstemmed | The genetics of human hematopoiesis and its disruption in disease |
| title_short | The genetics of human hematopoiesis and its disruption in disease |
| title_sort | genetics of human hematopoiesis and its disruption in disease |
| topic | blood disorders genetics genome‐wide association studies hematopoiesis |
| url | https://doi.org/10.15252/emmm.201910316 |
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