Cloning the gene for an inherited human disorder—chronic granulomatous disease—On the basis of its chromosomal location

Royer-Pokora, Brigitte; Kunkel, Louis M.; Monaco, Anthony P.; Goff, Sabra C.; Newburger, Peter E.; Baehner, Robert L.; Cole, F. Sessions; Curnutte, John T.; Orkin, Stuart H.

doi:10.1038/322032a0

Cited by 833Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunodeficiency and Autoimmune DisordersBlood disorders and treatments

Cloning the gene for an inherited human disorder—chronic granulomatous disease—On the basis of its chromosomal location

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Royer-Pokora, Brigitte, Kunkel, Louis M., Monaco, Anthony P., Goff, Sabra C., Newburger, Peter E., Baehner, Robert L., Cole, F. Sessions, Curnutte, John T. +1 more·1986·Nature

DOI 10.1038/322032a0

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Abstract

The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position. The transcript of the gene is expressed in the phagocytic lineage of haematopoietic cells and is absent or structurally abnormal in four patients with the disorder. The nucleotide sequence of complementary DNA clones predicts a polypeptide of at least 468 amino acids with no homology to proteins described previously.

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H2O2 can modulate gene expression by epigenetic modification and activate transcription factors such as AP-1, NRF2, CREB, HSF1, HIF-1, TP53, NF-κβ, NOTCH, SP1, SCREB-1 and FOXO family.
“For example, H2O2 can also modulate genes expression by epigenetic modification and activate transcription factors such as AP-1, NRF2, CREB, HSF1, HIF-1, TP53, NF-κβ, NOTCH, SP1, SCREB-1 and FOXO family [14,15,16,17,18,19,20,21,22].”
From The Role of Reactive Species on Innate Immunity (2022) · cites this paper as [14]
The CYBB and NCF2 genes encode the phagocyte respiratory burst oxidase proteins gp91PHOX and p67PHOX.
“These genes, which encode the respiratory burst oxidase proteins gp91 PHOX and p67 PHOX , are actively transcribed in myeloid cells that have differentiated beyond the promyelocyte stage (8,9).”
From SHP1 Protein-tyrosine Phosphatase Inhibits gp91PHOXand p67PHOX Expression by Inhibiting Interaction of PU.1, IRF1, Interferon Consensus Sequence-binding Protein, and CREB-binding Protein with Homologous Cis Elements in the CYBB andNCF2 Genes (2001) · cites this paper as [8]

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Cloning the Gene for the Inherited Disorder Chronic Granulomatous Disease on the Basis of Its Chromosomal LocationPreprint
Royer‐Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H. (1986) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.1986.051.01.021 · Cited by 75 · see citing works
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Chronic Granulomatous Disease: Molecular Genetics
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Authors: Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H.
Affiliations: Harvard University (US)
University of Massachusetts Chan Medical School (US)
University of Michigan (US)
Boston Children's Hospital (US)
ORCID: Kunkel, Louis M.
Monaco, Anthony P.
Newburger, Peter E.
Orkin, Stuart H.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 1986-07
Volume: 322
Issue: 6074
Pages: 32-38
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/322032a0
OpenAlex: W2040096357
Cited by: 833
References: 43
Citations by year: 2026: 7 · 2025: 5 · 2024: 2 · 2023: 13 · 2022: 5 · 2021: 17 · 2020: 8 · 2019: 13 · 2018: 10 · 2017: 11 · 2016: 18 · 2015: 12 · 2014: 16 · 2013: 19 · 2012: 14
FWCI: 26.84
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Deep Blue (University of Michigan) (submittedVersion)
Funders: National Cancer Institute (CA 38325)
National Institute of Allergy and Infectious Diseases (AI-21320)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD18661)
Topics: Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
Keywords: chronic granulomatous disease, gene cloning, X-linked inheritance, chromosome mapping, phagocytes, gene expression, nucleotide sequence
MeSH terms: Amino Acid Sequence, Base Sequence, Chromosome Deletion, Chromosome Mapping, Cloning, Molecular, DNA, Gene Expression Regulation, Granulomatous Disease, Chronic, Humans, RNA, Tissue Distribution, Transcription, Genetic, Leukemia, Myeloid, Acute

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Cloning the gene for an inherited human disorder—chronic granulomatous disease—On the basis of its chromosomal location

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