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List of disabled human pseudogenes

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This is a list of human pseudogenes that are known to be disabled genes.

This list is incomplete; you can help by adding missing items. (February 2011)
  • NCF1C pseudogene, associated with a type of white blood cell. It is related to NCF1. It may disable NCF1 by recombination, leading to chronic granulomatous disease.
  • GULO pseudogene, associated with the production of Vitamin C
  • hHaA pseudogene, associated with fur-like body hair: see hypertrichosis
  • DEFT1P pseudogene, associated with the immune system
  • HTR5BP pseudogene, associated with a variant of the 5-HT5 receptor.
  • Urate oxidase pseudogene, associated with the processing of uric acid
  • Photolyase pseudogene, associated with repairing DNA damaged by UV radiation.
    • Photolyase is no longer encoded for despite obvious advantages. Instead, this gene is mutated to encode for cryptochromes.
  • TLR12P pseudogene, encodes a toll-like receptor. In mice, this gene recognizes profilin. It has also been duplicated in mice into TLR11 (recognizes profilin, bacterial flagellin). TLR13 (recognizes bacterial ribosomal RNA) is another lost TLR, albeit with no appearant pseudogene.

Dubious pseudogenes:

  • WNT3A. It does encode a functional protein in humans, but has no appearant consequence upon mutation. In mice, loss of the gene causes tail shortening loss.

Resurrected pseudogenes:

  • IRGM, associated with the immune system

References

  1. Merling RK, Kuhns DB, Sweeney CL, Wu X, Burkett S, Chu J, et al. (January 2017). "Gene-edited pseudogene resurrection corrects p47-deficient chronic granulomatous disease". Blood Advances. 1 (4): 270–278. doi:10.1182/bloodadvances.2016001214. PMC 5727772. PMID 29296942.
  2. Hahn, Yoonsoo; Lee, Byungkook (March 1, 2006). "Human-specific nonsense mutations identified by genome sequence comparisons". Human Genetics. 119 (1): 169–178. doi:10.1007/s00439-005-0125-6. PMID 16395595. S2CID 21059468 – via Springer Link.
  3. Venkataraman, N.; Cole, A. L.; Ruchala, P.; Waring, A. J.; Lehrer, R. I.; Stuchlik, O.; Pohl, J.; Cole, A. M. (2009). "Retrocyclin pseudogene reactivation as defense against AIDS". PLOS Biology. 7 (4): e95. doi:10.1371/journal.pbio.1000095. PMC 2672613. PMID 19402752.
  4. "HTR5BP Gene - GeneCards | HTR5BP Pseudogene".
  5. Lucas-Lledó, José Ignacio; Lynch, Michael (2009-05-01). "Evolution of Mutation Rates: Phylogenomic Analysis of the Photolyase/Cryptochrome Family". Molecular Biology and Evolution. 26 (5): 1143–1153. doi:10.1093/molbev/msp029. ISSN 0737-4038. PMC 2668831. PMID 19228922.
  6. "TLR12P Gene - Toll Like Receptor 12, Pseudogene".
  7. Koblansky AA, Jankovic D, Oh H, Hieny S, Sungnak W, Mathur R, et al. (January 2013). "Recognition of profilin by Toll-like receptor 12 is critical for host resistance to Toxoplasma gondii". Immunity. 38 (1): 119–30. doi:10.1016/j.immuni.2012.09.016. PMC 3601573. PMID 23246311.
  8. Hatai, Hirotsugu; Lepelley, Alice; Zeng, Wangyong; Hayden, Matthew S.; Ghosh, Sankar (2016). "Toll-Like Receptor 11 (TLR11) Interacts with Flagellin and Profilin through Disparate Mechanisms". PLOS ONE. 11 (2): e0148987. Bibcode:2016PLoSO..1148987H. doi:10.1371/journal.pone.0148987. ISSN 1932-6203. PMC 4747465. PMID 26859749.
  9. Roach, JC; Glusman, G; Rowen, L; Kaur, A; Purcell, MK; Smith, KD; Hood, LE; Aderem, A (5 July 2005). "The evolution of vertebrate Toll-like receptors". Proceedings of the National Academy of Sciences of the United States of America. 102 (27): 9577–82. Bibcode:2005PNAS..102.9577R. doi:10.1073/pnas.0502272102. PMC 1172252. PMID 15976025.
  10. "UniProt P56704". www.uniprot.org.
  11. Bekpen, Cemalettin; Marques-Bonet, Tomas; Alkan, Can; Antonacci, Francesca; Leogrande, Maria Bruna; Ventura, Mario; Kidd, Jeffrey M.; Siswara, Priscillia; Howard, Jonathan C.; Eichler, Evan E. (6 March 2009). "Death and Resurrection of the Human IRGM Gene". PLOS Genetics. 5 (3): e1000403. doi:10.1371/journal.pgen.1000403. PMC 2644816. PMID 19266026.

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