A unified model of human hemoglobin switching through single-cell genome editing

Yong Shen; Jeffrey M. Verboon; Yuannyu Zhang; Nan Liu; Yoon Jung Kim; Samantha Marglous; Satish K. Nandakumar; Richard A. Voit; Claudia Fiorini; Ayesha Ejaz; Anindita Basak; Stuart H. Orkin; Jian Xu; Vijay G. Sankaran

doi:10.1038/s41467-021-25298-9

Nature Communications (Aug 2021)

A unified model of human hemoglobin switching through single-cell genome editing

Yong Shen,
Jeffrey M. Verboon,
Yuannyu Zhang,
Nan Liu,
Yoon Jung Kim,
Samantha Marglous,
Satish K. Nandakumar,
Richard A. Voit,
Claudia Fiorini,
Ayesha Ejaz,
Anindita Basak,
Stuart H. Orkin,
Jian Xu,
Vijay G. Sankaran

Affiliations

Yong Shen: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Jeffrey M. Verboon: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Yuannyu Zhang: Children’s Medical Center Research Institute, Department of Pediatrics, Harold C. Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center
Nan Liu: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Yoon Jung Kim: Children’s Medical Center Research Institute, Department of Pediatrics, Harold C. Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center
Samantha Marglous: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Satish K. Nandakumar: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Richard A. Voit: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Claudia Fiorini: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Ayesha Ejaz: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Anindita Basak: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Stuart H. Orkin: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School
Jian Xu: Children’s Medical Center Research Institute, Department of Pediatrics, Harold C. Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center
Vijay G. Sankaran: Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School

DOI: https://doi.org/10.1038/s41467-021-25298-9
Journal volume & issue: Vol. 12, no. 1
pp. 1 – 12

Abstract

Read online

Genetic mechanisms underlying fetal hemoglobin (HbF) regulation and switching are not fully understood. Here, the authors develop a single-cell genome editing functional assay to model how effects of mutation-harbouring functional elements contribute to HbF expression.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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