List of disabled human pseudogenes: Difference between revisions
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* [[Photolyase]] pseudogene, associated with repairing DNA damaged by UV radiation. |
* [[Photolyase]] pseudogene, associated with repairing DNA damaged by UV radiation. |
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** Photolyase is no longer encoded for despite obvious advantages.<ref>{{Cite journal|title = Evolution of Mutation Rates: Phylogenomic Analysis of the Photolyase/Cryptochrome Family|journal = Molecular Biology and Evolution|date = 2009-05-01|issn = 0737-4038|pmc = 2668831|pmid = 19228922|pages = 1143–1153|volume = 26|issue = 5|doi = 10.1093/molbev/msp029|first1 = José Ignacio|last1 = Lucas-Lledó|first2 = Michael|last2 = Lynch}}</ref> Instead, this gene is mutated to encode for [[cryptochrome]]s. |
** Photolyase is no longer encoded for despite obvious advantages.<ref>{{Cite journal|title = Evolution of Mutation Rates: Phylogenomic Analysis of the Photolyase/Cryptochrome Family|journal = Molecular Biology and Evolution|date = 2009-05-01|issn = 0737-4038|pmc = 2668831|pmid = 19228922|pages = 1143–1153|volume = 26|issue = 5|doi = 10.1093/molbev/msp029|first1 = José Ignacio|last1 = Lucas-Lledó|first2 = Michael|last2 = Lynch}}</ref> Instead, this gene is mutated to encode for [[cryptochrome]]s. |
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* TLR12P pseudogene, encodes a [[toll-like receptor]].<ref>{{cite web |url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=TLR12P|title=TLR12P Gene - Toll Like Receptor 12, Pseudogene}}</ref> In mice, this gene recognizes [[profilin]].<ref>{{cite journal | vauthors = Koblansky AA, Jankovic D, Oh H, Hieny S, Sungnak W, Mathur R, Hayden MS, Akira S, Sher A, Ghosh S | display-authors = 6 | title = Recognition of profilin by Toll-like receptor 12 is critical for host resistance to Toxoplasma gondii | journal = Immunity | volume = 38 | issue = 1 | pages = 119–30 | date = January 2013 | pmid = 23246311 | pmc = 3601573 | doi = 10.1016/j.immuni.2012.09.016 }}</ref> It has also been duplicated twice in mice into [[toll-like receptor 11|TLR11]] (recognizes profilin, bacterial flagellin)<ref name=pmid26859749>{{Cite journal|last1=Hatai|first1=Hirotsugu|last2=Lepelley|first2=Alice|last3=Zeng|first3=Wangyong|last4=Hayden|first4=Matthew S.|last5=Ghosh|first5=Sankar|date=2016|title=Toll-Like Receptor 11 (TLR11) Interacts with Flagellin and Profilin through Disparate Mechanisms|journal=PLOS ONE|volume=11|issue=2|pages=e0148987|doi=10.1371/journal.pone.0148987|issn=1932-6203|pmc=4747465|pmid=26859749|bibcode=2016PLoSO..1148987H|doi-access=free}}</ref> and TLR13 (recognizes bacterial ribosomal RNA).<ref>{{cite journal |last1=Roach |first1=JC |last2=Glusman |first2=G |last3=Rowen |first3=L |last4=Kaur |first4=A |last5=Purcell |first5=MK |last6=Smith |first6=KD |last7=Hood |first7=LE |last8=Aderem |first8=A |title=The evolution of vertebrate Toll-like receptors. |journal=Proceedings of the National Academy of Sciences of the United States of America |date=5 July 2005 |volume=102 |issue=27 |pages=9577-82 |doi=10.1073/pnas.0502272102 |pmid=15976025}}</ref> |
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Dubious pseudogenes: |
Dubious pseudogenes: |
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Revision as of 06:51, 24 December 2023
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This is a list of human pseudogenes that are known to be disabled genes.
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- NCF1C pseudogene, associated with a type of white blood cell. It makes part of the neutrophil NADPH oxidase enzyme, which makes superoxide anion.[1][2]
- GULO pseudogene, associated with the production of Vitamin C
- IRGM pseudogene, associated with the immune system[3]
- hHaA pseudogene, associated with fur-like body hair:[4] see hypertrichosis
- DEFT1P pseudogene, associated with the immune system[5]
- HTR5BP pseudogene, associated with a variant of the 5-HT5 receptor.[6]
- 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.[7] Instead, this gene is mutated to encode for cryptochromes.
- TLR12P pseudogene, encodes a toll-like receptor.[8] In mice, this gene recognizes profilin.[9] It has also been duplicated twice in mice into TLR11 (recognizes profilin, bacterial flagellin)[10] and TLR13 (recognizes bacterial ribosomal RNA).[11]
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.[12]
References
- ^ "NCF1C neutrophil cytosolic factor 1C pseudogene [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-10-14.
- ^ "NCF1C Gene - GeneCards | NCF1C Pseudogene". www.genecards.org. Retrieved 2021-10-14.
- ^ Plos genetics on IRGM pseudogene
- ^ 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 – via Springer Link.
- ^ "Retrocyclin pseudogene reactivation as defense against AIDS".
- ^ "HTR5BP Gene - GeneCards | HTR5BP Pseudogene".
- ^ 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.
- ^ "TLR12P Gene - Toll Like Receptor 12, Pseudogene".
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "UniProt P56704". www.uniprot.org.