LRPPRC: Difference between revisions
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==Clinical significance== |
==Clinical significance== |
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An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of [[Leigh syndrome]].<ref name="pmid12529507">{{cite journal | author = Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES | title = Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 2 | pages = 605–10 | year = 2003 | month = January | pmid = 12529507 | pmc = 141043 | doi = 10.1073/pnas.242716699 | url = }}</ref> Furthermore mutation in the LRPPRC gene causes lowered |
An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of [[Leigh syndrome]].<ref name="pmid12529507">{{cite journal | author = Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES | title = Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 100 | issue = 2 | pages = 605–10 | year = 2003 | month = January | pmid = 12529507 | pmc = 141043 | doi = 10.1073/pnas.242716699 | url = }}</ref> Furthermore mutation in the LRPPRC gene causes lowered expression of [[COX1]] (cytochrome c oxidase I) and [[COX3 (gene)|COX III]].<ref name="pmid15139850">{{cite journal | author = Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH | title = The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA | journal = Biochem. J. | volume = 382 | issue = Pt 1 | pages = 331–6 | year = 2004 | month = August | pmid = 15139850 | pmc = 1133946 | doi = 10.1042/BJ20040469 | url = }}</ref> |
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==References== |
==References== |
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Revision as of 15:51, 11 April 2011
Template:PBB Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene.[1][1][2][3] Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene.[3]
Function
This gene encodes a protein that is leucine-rich and is thought to play a role in regulating the interaction of the cytoskeleton with a variety of cellular processes.[4]
Clinical significance
An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of Leigh syndrome.[5] Furthermore mutation in the LRPPRC gene causes lowered expression of COX1 (cytochrome c oxidase I) and COX III.[6]
References
- ^ a b Hou J, Wang F, McKeehan WL (1994). "Molecular cloning and expression of the gene for a major leucine-rich protein from human hepatoblastoma cells (HepG2)". In Vitro Cell Dev Biol Anim. 30A (2): 111–4. doi:10.1007/BF02631402. PMID 8012652.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) Cite error: The named reference "pmid8012652" was defined multiple times with different content (see the help page). - ^ Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ a b "Entrez Gene: LRPPRC leucine-rich PPR-motif containing".
- ^ Liu L, McKeehan WL (2002). "Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity". Genomics. 79 (1): 124–36. doi:10.1006/geno.2001.6679. PMID 11827465.
{{cite journal}}: Unknown parameter|month=ignored (help) - ^ Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES (2003). "Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics". Proc. Natl. Acad. Sci. U.S.A. 100 (2): 605–10. doi:10.1073/pnas.242716699. PMC 141043. PMID 12529507.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH (2004). "The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA". Biochem. J. 382 (Pt 1): 331–6. doi:10.1042/BJ20040469. PMC 1133946. PMID 15139850.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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