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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.
Population-genetic properties of differentiated human copy-number polymorphisms., , Am J Hum Genet, 03/2011, Volume 88, Issue 3, p.317-32, (2011)
Diversity of human copy number variation and multicopy genes., , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR., , Genomics, 2010 Apr, Volume 95, Issue 4, p.203-9, (2010)
Human occludin is a hepatitis C virus entry factor required for infection of mouse cells., , Nature, 02/2009, Volume 457, Issue 7231, p.882-6, (2009)
Lineage-specific gene duplication and loss in human and great ape evolution., , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)