Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease-Reference-Cited by-同舟云学术

Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease

Published:2016-12-28 Issue:4 Volume:1 Page:270-278
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Merling Randall K.¹,Kuhns Douglas B.²,Sweeney Colin L.¹,Wu Xiaolin³,Burkett Sandra⁴,Chu Jessica¹,Lee Janet¹,Koontz Sherry¹,Di Pasquale Giovanni⁵,Afione Sandra A.⁵,Chiorini John A.⁵,Kang Elizabeth M.¹,Choi Uimook¹,De Ravin Suk See¹,Malech Harry L.¹^ORCID

Affiliation:

1. Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

2. Neutrophil Monitoring Laboratory, Applied/Developmental Research Directorate, and

3. Genomics Laboratory, Cancer Research Technology Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD;

4. Molecular Cytogenetics Section, Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Frederick, MD; and

5. Adeno-Associated Virus Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD

Abstract

Key Points Gene-editing correction of the GT deletion in exon 2 of NCF1 pseudogenes corrects p47phox-deficient chronic granulomatous disease. The nonfunctional pseudogenes NCF1B and NCF1C can be resurrected to produce functional p47phox protein by gene editing.

Publisher

American Society of Hematology

Subject

Hematology

Link

http://ashpublications.org/bloodadvances/article-pdf/1/4/270/878047/advances001214.pdf

Reference23 articles.

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3. A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease;Görlach;J Clin Invest,1997

4. Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency;Iwata;Biochem Biophys Res Commun,1994

5. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease;Roesler;Blood,2000

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