APOL1
APOL1 is the gene, which in humans encodes the Apolipoprotein L1 protein.[1][2][3][4]
Apolipoprotein L1 (apoL1) is a minor apoprotein component of HDL (High-density lipoprotein) or 'good cholesterol' which is synthesized in the liver and also in many other tissues, including pancreas, kidney, and brain. Although its intracellular function has not been elucidated, apoL1 circulating in plasma has the ability to kill the trypanosome Trypanosoma brucei that causes sleeping sickness. Two transcript variants encoding two different isoforms have been found for this gene.[4]. Recently, two coding sequence variants in APOL1 have been shown to associate with kidney disease in a recessive fashion while at the same time conferring resistance against Trypanosoma brucei rhodesiense.[5] The distribution of the variant most associated with kidney disease risk was analyzed in African populations and found to be more prevalent in western compared to northeast African populations and absent in Ethiopia [6], consistent with the reported protection from forms of kidney disease known to be associated with the APOL1 variants.[7]
References
- ^ Duchateau PN, Pullinger CR, Orellana RE, Kunitake ST, Naya-Vigne J, O'Connor PM, Malloy MJ, Kane JP (Nov 1997). "Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L". J Biol Chem 272 (41): 25576–82. doi:10.1074/jbc.272.41.25576. PMID 9325276.
- ^ Page NM, Butlin DJ, Lomthaisong K, Lowry PJ (May 2001). "The human apolipoprotein L gene cluster: identification, classification, and sites of distribution". Genomics 74 (1): 71–8. doi:10.1006/geno.2001.6534. PMID 11374903.
- ^ Perez-Morga D, Vanhollebeke B, Paturiaux-Hanocq F, Nolan DP, Lins L, Homble F, Vanhamme L, Tebabi P, Pays A, Poelvoorde P, Jacquet A, Brasseur R, Pays E (Jul 2005). "Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes". Science 309 (5733): 469–72. doi:10.1126/science.1114566. PMID 16020735.
- ^ a b "Entrez Gene: APOL1 apolipoprotein L, 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8542.
- ^ Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. (Jul 2010). "Association of Trypanolytic ApoL1 Variants with Kidney Disease in African-Americans". Science 329 (5993): 841–5. doi:10.1126/science.1193032. PMC 2980843. PMID 20647424. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2980843.
- ^ Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K. (Jul 2010). "Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene". Human Genetics 128 (3): 345–50. doi:10.1007/s00439-010-0861-0. PMC 2921485. PMID 20635188. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2921485.
- ^ Behar DM, Shlush LI, Maor C, Lorber M, Skorecki K. (2006). "Absence of HIV-associated nephropathy in Ethiopians". Am J Kidney Dis. 47 (1): 88–94. doi:10.1053/j.ajkd.2005.09.023. PMID 16377389.
Further reading
- Dunham I, Shimizu N, Roe BA et al. (1999). "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
- Duchateau PN, Movsesyan I, Yamashita S et al. (2000). "Plasma apolipoprotein L concentrations correlate with plasma triglycerides and cholesterol levels in normolipidemic, hyperlipidemic, and diabetic subjects". J. Lipid Res. 41 (8): 1231–6. PMID 10946010.
- Duchateau PN, Pullinger CR, Cho MH et al. (2001). "Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene". J. Lipid Res. 42 (4): 620–30. PMID 11290834.
- Monajemi H, Fontijn RD, Pannekoek H, Horrevoets AJ (2002). "The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue". Genomics 79 (4): 539–46. doi:10.1006/geno.2002.6729. PMID 11944986.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Vanhamme L, Paturiaux-Hanocq F, Poelvoorde P et al. (2003). "Apolipoprotein L-I is the trypanosome lytic factor of human serum". Nature 422 (6927): 83–7. doi:10.1038/nature01461. PMID 12621437.
- Kang MK, Kameta A, Shin KH et al. (2003). "Senescence-associated genes in normal human oral keratinocytes". Exp. Cell Res. 287 (2): 272–81. doi:10.1016/S0014-4827(03)00061-2. PMID 12837283.
- Anderson NL, Polanski M, Pieper R et al. (2004). "The human plasma proteome: a nonredundant list developed by combination of four separate sources". Mol. Cell Proteomics 3 (4): 311–26. doi:10.1074/mcp.M300127-MCP200. PMID 14718574.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Lugli EB, Pouliot M, Portela Mdel P et al. (2005). "Characterization of primate trypanosome lytic factors". Mol. Biochem. Parasitol. 138 (1): 9–20. doi:10.1016/j.molbiopara.2004.07.004. PMID 15500911.
- Albert TS, Duchateau PN, Deeb SS et al. (2005). "Apolipoprotein L-I is positively associated with hyperglycemia and plasma triglycerides in CAD patients with low HDL". J. Lipid Res. 46 (3): 469–74. doi:10.1194/jlr.M400304-JLR200. PMID 15604524.
- Rual JF, Venkatesan K, Hao T et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Liu T, Qian WJ, Gritsenko MA et al. (2006). "Human Plasma N-Glycoproteome Analysis by Immunoaffinity Subtraction, Hydrazide Chemistry, and Mass Spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1850943.
- Vanhollebeke B, Nielsen MJ, Watanabe Y et al. (2007). "Distinct roles of haptoglobin-related protein and apolipoprotein L-I in trypanolysis by human serum". Proc. Natl. Acad. Sci. U.S.A. 104 (10): 4118–23. doi:10.1073/pnas.0609902104. PMC 1820718. PMID 17360487. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1820718.