List of disabled human pseudogenes explained

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]

External links

• GeneCard search: "Pseudogene". Only results with "Pseudogene" in "Category" column are pseudogenes.
• HGNC search: locus_group:"Pseudogene"

Notes and References

1. Merling RK, Kuhns DB, Sweeney CL, Wu X, Burkett S, Chu J, Lee J, Koontz S, Di Pasquale G, Afione SA, Chiorini JA, Kang EM, Choi U, De Ravin SS, Malech HL . 6 . Gene-edited pseudogene resurrection corrects p47^phox-deficient chronic granulomatous disease . Blood Advances . 1 . 4 . 270–278 . January 2017 . 29296942 . 5727772 . 10.1182/bloodadvances.2016001214 .
2. Human-specific nonsense mutations identified by genome sequence comparisons. Yoonsoo. Hahn. Byungkook. Lee. March 1, 2006. Human Genetics. 119. 1. 169–178. Springer Link. 10.1007/s00439-005-0125-6. 16395595 . 21059468 .
3. Retrocyclin pseudogene reactivation as defense against AIDS. 2009 . 10.1371/journal.pbio.1000095 . 19402752 . free . Venkataraman . N. . Cole . A. L. . Ruchala . P. . Waring . A. J. . Lehrer . R. I. . Stuchlik . O. . Pohl . J. . Cole . A. M. . PLOS Biology . 7 . 4 . e95 . 2672613 .
4. Web site: HTR5BP Gene - GeneCards | HTR5BP Pseudogene.
5. Evolution of Mutation Rates: Phylogenomic Analysis of the Photolyase/Cryptochrome Family. Molecular Biology and Evolution. 2009-05-01. 0737-4038. 2668831. 19228922. 1143–1153. 26. 5. 10.1093/molbev/msp029. José Ignacio. Lucas-Lledó. Michael. Lynch.
6. Web site: TLR12P Gene - Toll Like Receptor 12, Pseudogene.
7. Koblansky AA, Jankovic D, Oh H, Hieny S, Sungnak W, Mathur R, Hayden MS, Akira S, Sher A, Ghosh S . 6 . Recognition of profilin by Toll-like receptor 12 is critical for host resistance to Toxoplasma gondii . Immunity . 38 . 1 . 119–30 . January 2013 . 23246311 . 3601573 . 10.1016/j.immuni.2012.09.016 .
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. 10.1371/journal.pone.0148987. 1932-6203. 4747465. 26859749. 2016PLoSO..1148987H. free.
9. Roach . JC . Glusman . G . Rowen . L . Kaur . A . Purcell . MK . Smith . KD . Hood . LE . Aderem . A . The evolution of vertebrate Toll-like receptors. . Proceedings of the National Academy of Sciences of the United States of America . 5 July 2005 . 102 . 27 . 9577–82 . 10.1073/pnas.0502272102 . 15976025 . 1172252 . 2005PNAS..102.9577R . free .
10. Web site: 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. . Death and Resurrection of the Human IRGM Gene . PLOS Genetics . 6 March 2009 . 5 . 3 . e1000403 . 10.1371/journal.pgen.1000403 . 19266026 . 2644816 . free .