List of disabled human pseudogenes

From Wikipedia, the free encyclopedia

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

  • 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.[1]
  • GULO pseudogene, associated with the production of Vitamin C
  • hHaA pseudogene, associated with fur-like body hair:[2] see hypertrichosis
  • DEFT1P pseudogene, associated with the immune system[3]
  • HTR5BP pseudogene, associated with a variant of the 5-HT5 receptor.[4]
  • 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.[5] Instead, this gene is mutated to encode for cryptochromes.
  • TLR12P pseudogene, encodes a toll-like receptor.[6] In mice, this gene recognizes profilin.[7] It has also been duplicated in mice into TLR11 (recognizes profilin, bacterial flagellin).[8] TLR13 (recognizes bacterial ribosomal RNA) is another lost TLR, albeit with no appearant pseudogene.[9]

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.[10]

Resurrected pseudogenes:

  • IRGM, associated with the immune system[11]


  1. ^ Merling RK, Kuhns DB, Sweeney CL, Wu X, Burkett S, Chu J, et al. (January 2017). "Gene-edited pseudogene resurrection corrects p47phox-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".
  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.

External links[edit]