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NCF1 (Neutrophil cytosolic factor 1)

Certainty Style Key
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True   Likely   Speculative
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Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

Neutrophil cytosolic factor 1 (NCF1) is a subunit of neutrophil NADPH oxidase, an enzyme that produces superoxidase which is essential for pathogen destruction by phagocytic leukocytes. Mutation of this gene results in Chronic granulomatous Disease which is an immunodeficiency disorder. Studies of NCF1 copy number within the human population have found that more copies of NCF1 may be protective against developing rheumatoid arthritis. As the human genome has 4-6 more copies of NCF1 than other primates and other primates have a lower incidence of rheumatoid arthritis, this copy number increase could be adaptive for this disease.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
NCF1 (NCF1: neutrophil cytosolic factor 1)
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
Related Topics:
TitleCertainty
Autoimmune DisordersLikely
Rheumatoid Arthritis Likely
Timing

Timing of Appearance of the Difference in the Hominin Lineage.

For this entry assume that

  • the common ancestor of humans and old world monkeys was 25000 thousand (25 million) years ago
  • the common ancestor of humans and chimpanzees was 6000 thousand (6 million) years ago
  • the emergence of the genus Homo was 2000 thousand (2 million) years ago
  • the common ancestor of modern humans was 100 thousand years ago

 

Probable Appearance: 
2000 Thousand Years
Definite Appearance: 
6000 Thousand Years
References: 

Olsson LM, Nerstedt A, Lindqvist AK, Johansson AC, Medstrand P, Olofsson P, Holmdahl R. Copy number variation of the gene NCF1 is associated with Rheumatoid Arthritis. Antioxid Redox Signal. 2011 Jul 5. [Epub ahead of print] PMID: 21728841

 

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE. Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. PMID:21030649

 

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. PMID: 20167518


Soto PC, Stein LL, Hurtado-Ziola N, Hedrick SM, Varki A. Relative over-reactivity of human versus chimpanzee lymphocytes: implications for the human diseases associated with immune activation. J Immunol. 2010 Apr 15;184(8):4185-95. Epub 2010 Mar 15. PMID: 20231688
 

Armengol G, Knuutila S, Lozano JJ, Madrigal I, Caballín MR. (2010) Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR. Genomics 95(4):203-9. PMID:20153417

 

Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM. (2004) Lineage-specific gene duplication and loss in human and great ape evolution. PLoS Biol 2(7):E207. PMID: 15252450
 

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