Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lineage Commitment01:21

Lineage Commitment

3.0K
Commitment is the  process whereby stem cells:
3.0K
Multipotency of Hematopoietic Stem Cells01:19

Multipotency of Hematopoietic Stem Cells

3.1K
The hematopoietic stem cells or HSCs are multipotent, meaning they can differentiate and give rise to all blood and immune cells. HSCs are maintained in the quiescent stage until an external stimulus initiates their differentiation. The multipotent HSCs exist as two heterogeneous populations, long-term repopulating cells (LTRC) and short-term repopulating cells (STRC). The two HSC populations have different surface markers or receptors and are classified based on quiescence and long-term...
3.1K
Hematopoiesis01:21

Hematopoiesis

5.4K
The process of blood cell formation is called hematopoiesis. Hematopoiesis starts early during development, on the seventh day of embryogenesis. This phase of hematopoiesis is called the primitive wave, wherein the extraembryonic yolk sac allows the production of erythroid cells and endothelial cells from a common precursor called hemangioblast. The erythroid cells provide oxygen to support the growth of the rapidly dividing embryo. Hemangioblasts later develop into hematopoietic stem cells or...
5.4K
Regulation of Hematopoietic Stem Cells01:01

Regulation of Hematopoietic Stem Cells

3.2K
All blood and immune cells are produced from the multipotent hematopoietic stem cells (HSCs) by the process of hematopoiesis. However, they all have a limited life span. In addition, many are depleted in immune surveillance or combatting an injury or infection. This makes blood one of the most regenerative tissues. Hematopoiesis helps replenish these blood and immune cells, restoring the body's normal functioning. However, overproduction of blood and immune cells can make them cancerous or...
3.2K
Production of Formed Elements01:34

Production of Formed Elements

1.5K
Hemangioblasts are multipotent stem cells originating from the mesoderm. They give rise to hematopoietic stem cells (HSCs), which undergo hematopoiesis to produce all the formed elements of blood. This process is regulated by a complex network of hematopoietic growth factors, including transcription factors, growth factors, and cytokines. These factors stimulate the HSCs to divide and differentiate, though some HSCs remain undifferentiated to maintain a self-renewing pool.
Most HSCs commit to...
1.5K
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

12.1K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
12.1K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Circulating levels of insulin-like growth factor I (IGF-I) and risk of multiple myeloma: An observational and Mendelian randomisation study.

British journal of haematology·2026
Same author

Epigenetic Modulation, Intratumoral Microbiome, and Immunity in Early-Onset Colorectal Cancer.

Cancer research communications·2025
Same author

Hematologic Malignancy Frequency, Phenotypes, and Outcomes in Li-Fraumeni Syndrome.

JCO precision oncology·2025
Same author

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Leukemia·2025
Same author

The Tumor Microbiome as a Predictor of Outcomes in Patients with Metastatic Melanoma Treated with Immune Checkpoint Inhibitors.

Cancer research communications·2024
Same author

Risk prediction for clonal cytopenia: multicenter real-world evidence.

Blood·2024

Related Experiment Video

Updated: Jul 24, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.4K

Germline predisposition to clonal hematopoiesis.

Jie Liu1, Afaf E G Osman2, Kelly Bolton1

  • 1Division of Oncology, Department of Medicine, Washington University School of Medicine, St Louis, MO, USA.

Leukemia Research
|July 8, 2023
PubMed
Summary

Aging hematopoietic stem cells can acquire mutations, leading to clonal hematopoiesis (CH). Inherited genetic factors, particularly variants near TERT and ATM, strongly predispose individuals to CH and associated health risks.

More Related Videos

Lentiviral CRISPR/Cas9-Mediated Genome Editing for the Study of Hematopoietic Cells in Disease Models
08:14

Lentiviral CRISPR/Cas9-Mediated Genome Editing for the Study of Hematopoietic Cells in Disease Models

Published on: October 3, 2019

12.3K
Bone Marrow Transplantation Procedures in Mice to Study Clonal Hematopoiesis
08:00

Bone Marrow Transplantation Procedures in Mice to Study Clonal Hematopoiesis

Published on: May 26, 2021

12.6K

Related Experiment Videos

Last Updated: Jul 24, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.4K
Lentiviral CRISPR/Cas9-Mediated Genome Editing for the Study of Hematopoietic Cells in Disease Models
08:14

Lentiviral CRISPR/Cas9-Mediated Genome Editing for the Study of Hematopoietic Cells in Disease Models

Published on: October 3, 2019

12.3K
Bone Marrow Transplantation Procedures in Mice to Study Clonal Hematopoiesis
08:00

Bone Marrow Transplantation Procedures in Mice to Study Clonal Hematopoiesis

Published on: May 26, 2021

12.6K

Area of Science:

  • Hematology
  • Genetics
  • Aging Research

Background:

  • Hematopoietic stem and progenitor cells (HSPCs) accumulate mutations with age.
  • This accumulation leads to clonal hematopoiesis (CH), a process involving advantageous mutations and clonal expansion.
  • CH is linked to increased risks of cancer, cardiovascular disease, and inflammatory conditions.

Purpose of the Study:

  • To review the current understanding of inherited genetic factors predisposing to CH.
  • To highlight key genes and DNA variants associated with CH development.
  • To discuss the implications of germline predisposition for age-related diseases.

Main Methods:

  • Literature review of studies on clonal hematopoiesis and germline genetics.
  • Analysis of genetic association data for CH-predisposing variants.
  • Synthesis of current knowledge on the biological mechanisms linking germline variants to HSPC function.

Main Results:

  • Specific DNA variants near genes such as TERT, SMC4, KPNA4, IL12A, CD164, and ATM show strong associations with CH.
  • Germline predisposition plays a significant role in the development of CH.
  • Understanding these inherited alleles is crucial for risk stratification and potential interventions.

Conclusions:

  • Germline genetic factors are critical determinants of an individual's susceptibility to developing clonal hematopoiesis with age.
  • Identifying these predisposition alleles offers insights into the pathogenesis of CH and associated morbidities.
  • Further research into these inherited variants can inform strategies for preventing or mitigating age-related diseases linked to CH.