Biology: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 expanding it.
  • 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]

References

  1. ↑ "Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease". Blood Advances 1 (4): 270–278. January 2017. doi:10.1182/bloodadvances.2016001214. 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. https://doi.org/10.1007/s00439-005-0125-6. 
  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. PMID 19402752. 
  4. ↑ "HTR5BP Gene - GeneCards | HTR5BP Pseudogene". https://www.genecards.org/cgi-bin/carddisp.pl?gene=HTR5BP. 
  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. PMID 19228922. 
  6. ↑ "TLR12P Gene - Toll Like Receptor 12, Pseudogene". https://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR12P. 
  7. ↑ "Recognition of profilin by Toll-like receptor 12 is critical for host resistance to Toxoplasma gondii". Immunity 38 (1): 119–30. January 2013. doi:10.1016/j.immuni.2012.09.016. 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. doi:10.1371/journal.pone.0148987. ISSN 1932-6203. PMID 26859749. Bibcode: 2016PLoSO..1148987H. 
  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. doi:10.1073/pnas.0502272102. PMID 15976025. Bibcode: 2005PNAS..102.9577R. 
  10. ↑ "UniProt P56704". https://www.uniprot.org/uniprotkb/P56704/variant-viewer. 
  11. ↑ Bekpen, Cemalettin; Marques-Bonet, Tomas; Alkan, Can; Antonacci, Francesca; Leogrande, Maria Bruna; Ventura, Mario; Kidd, Jeffrey M.; Siswara, Priscillia et al. (6 March 2009). "Death and Resurrection of the Human IRGM Gene". PLOS Genetics 5 (3): e1000403. doi:10.1371/journal.pgen.1000403. PMID 19266026. 

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