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OCLN (Occludin)

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What is MOCA?
MOCA FAQ...
Human Uniqueness Compared to "Great Apes": 
Likely Difference
MOCA Domain: 
Genetics
MOCA Topic Authors: 
Majesta O'Bleness
James Sikela

Occludin (OCLN) is a four transmembrane domain protein in the tight junction complex of polarized epithelial cells. It regulates paracellular permeability, cell adhesion, and has been shown to mediate hepatitis C entry into human liver cells. Humans have a pseudogene located 1.5 Mb away from this gene that is not present in other primates. Due to variability in the copy number of this pseudogene across human populations, it has been hypothesized that this pseudogene may play a role in susceptibility to infection of Hepatitis C.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
OCLN (OCLN: occludin)
Type of Human-Specific Changes:
Copy Number Changes
Related MOCA Topics
Related Topics:
TitleCertainty
Viral Hepatitis Complications Speculative
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

 

Definite Appearance: 
6000 Thousand Years
References: 

Campbell CD, Sampas N, Tsalenko A, Sudmant PH, Kidd JM, Malig M, Vu TH, Vives L, Tsang P, Bruhn L, Eichler EE. Population-genetic properties of differentiated human copy-number polymorphisms. Am J Hum Genet. 2011 Mar 11;88(3):317-32. PMID: 21397061

 

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

 

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

 

Ploss A, Evans MJ, Gaysinskaya VA, Panis M, You H, de Jong YP, Rice CM. Human occludin is a hepatitis C virus entry factor required for infection of mouse cells. Nature. 2009 Feb 12;457(7231):882-6. PMID: 19182773 

 

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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