LRPPRC explained

Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene.^{[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 MT-CO1 (cytochrome c oxidase I) and MT-CO3.^[6]

Further reading

• Yu W, Andersson B, Worley KC, etal . Large-Scale Concatenation cDNA Sequencing . Genome Res. . 7 . 4 . 353–8 . 1997 . 9110174 . 10.1101/gr.7.4.353. 139146 .
• Kuroda H, Sugimoto T, Horii Y, Sawada T . Signaling pathway of ciliary neurotrophic factor in neuroblastoma cell lines . Med. Pediatr. Oncol. . 36 . 1 . 118–21 . 2001 . 11464862 . 10.1002/1096-911X(20010101)36:1<118::AID-MPO1028>3.0.CO;2-R .
• Liu L, McKeehan WL . 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 . 2002 . 11827465 . 10.1006/geno.2001.6679 . 3241999 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Mootha VK, Lepage P, Miller K, etal . Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics . Proc. Natl. Acad. Sci. U.S.A. . 100 . 2 . 605–10 . 2003 . 12529507 . 10.1073/pnas.242716699 . 141043 . free .
• Liu L, Amy V, Liu G, McKeehan WL . Novel Complex Integrating Mitochondria and the Microtubular Cytoskeleton with Chromosome Remodeling and Tumor Suppressor Rassf1 Deduced by in Silico Homology Analysis, Interaction Cloning in Yeast, and Colocalization in Cultured Cells . In Vitro Cell. Dev. Biol. Anim. . 38 . 10 . 582–94 . 2003 . 12762840 . 10.1290/1543-706X(2002)38<582:NCIMAT>2.0.CO;2 . 3225227 .
• Mili S, Piñol-Roma S . LRP130, a Pentatricopeptide Motif Protein with a Noncanonical RNA-Binding Domain, Is Bound In Vivo to Mitochondrial and Nuclear RNAs . Mol. Cell. Biol. . 23 . 14 . 4972–82 . 2003 . 12832482 . 10.1128/MCB.23.14.4972-4982.2003 . 162214 .
• Bouwmeester T, Bauch A, Ruffner H, etal . A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway . Nat. Cell Biol. . 6 . 2 . 97–105 . 2004 . 14743216 . 10.1038/ncb1086 . 11683986 .
• Labialle S, Dayan G, Gayet L, etal . New invMED1 element cis-activates human multidrug-related MDR1 and MVP genes, involving the LRP130 protein . Nucleic Acids Res. . 32 . 13 . 3864–76 . 2004 . 15272088 . 10.1093/nar/gkh722 . 506807 .
• Liu L, Vo A, Liu G, McKeehan WL . Putative tumor suppressor RASSF1 interactive protein and cell death inducer C19ORF5 is a DNA binding protein . Biochem. Biophys. Res. Commun. . 332 . 3 . 670–6 . 2005 . 15907802 . 10.1016/j.bbrc.2005.05.006 . 3225229 .
• Cooper MP, Qu L, Rohas LM, etal . Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1α/LRP130 complex . Genes Dev. . 20 . 21 . 2996–3009 . 2006 . 17050673 . 10.1101/gad.1483906 . 1620022 .
• Ewing RM, Chu P, Elisma F, etal . Large-scale mapping of human protein–protein interactions by mass spectrometry . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 .

Notes and References

1. Hou J, Wang F, McKeehan WL . 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 . Jul 1994 . 8012652 . 10.1007/BF02631402. 24824618 .
2. Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA . A "double adaptor" method for improved shotgun library construction . Anal Biochem . 236 . 1 . 107–13 . Jun 1996 . 8619474 . 10.1006/abio.1996.0138 .
3. Web site: Entrez Gene: LRPPRC leucine-rich PPR-motif containing.
4. Liu L, McKeehan WL . 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 . January 2002 . 11827465 . 10.1006/geno.2001.6679 . 3241999 .
5. 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 . Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics . Proc. Natl. Acad. Sci. U.S.A. . 100 . 2 . 605–10 . January 2003 . 12529507 . 141043 . 10.1073/pnas.242716699 . free .
6. Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH . 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 . August 2004 . 15139850 . 1133946 . 10.1042/BJ20040469 .