A apolipoproteína C1 (tamén apolipoproteína C-I ou ApoC-I, entre outros nomes) é un compoñente proteíco das lipoproteínas que nos humanos está codificado no xene APOC1 do cromosoma 19.[1][2]
Localizouse un pseudoxene deste xene a 4 kb augas abaixo do xene da APOC1 coa mesma orientación no cromosoma 19, e os dous forman parte do mesmo agrupamento de xenes de apolipoproteínas. Este pseudoxene, do que tamén se informou que estaba presente nos denisovanos e neandertais, orixinouse en dous episodios separados. Despois da diverxencia dos monos do Novo Mundo da liñaxe humana, o xene APOC1 sufriu unha duplicación. Os monos do Vello Mundo e os grandes simios non humanos teñen os dous xenes activos. Neles, un dos duplicados codifica unha proteína básica designada apoC-IB que é ortóloga da apolipoproteína C1 humana. O outro codifica unha proteína ácida chamada apoC-IA, que é ortóloga da proteína virtual que estaría codificada no pseudoxene. O evento de pseudoxenización ocorrido nalgún momento entre a diverxencia dos bonobos e os chimpancés da estirpe humana e a aparición dos denisovanos e os neandertais. O pseudoxene débese a un cambio nun só nucleótido no codón do penúltimo aminoácido, que é a glutamina, na secuencia sinal, orixinando como resultado un codón de stop.[4][5][6]
- ↑ Tata F, Henry I, Markham AF, Wallis SC, Weil D, Grzeschik KH, et al. (1985). "Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19". Human Genetics 69 (4): 345–9. PMID 2985493. doi:10.1007/BF00291654.
- ↑ Smit M, van der Kooij-Meijs E, Frants RR, Havekes L, Klasen EC (xaneiro de 1988). "Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia". Human Genetics 78 (1): 90–3. PMID 2892779. doi:10.1007/BF00291243.
- ↑ "Entrez Gene: APOC1 apolipoprotein C-I".
- ↑ Puppione DL, Ryan CM, Bassilian S, Souda P, Xiao X, Ryder OA, Whitelegge JP (marzo de 2010). "Detection of two distinct forms of apoC-I in great apes". Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics 5 (1): 73–9. PMC 2830554. PMID 20209111. doi:10.1016/j.cbd.2009.12.003.
- ↑ Puppione D, Whitelegge JP (outubro de 2013). "Proteogenomic Review of the Changes in Primate apoC-I during Evolution". Frontiers in Biology 8 (5): 533–548. PMC 5528196. PMID 28757862. doi:10.1007/s11515-013-1278-7.
- ↑ Puppione DL (setembro de 2014). "Higher primates, but not New World monkeys, have a duplicate set of enhancers flanking their apoC-I genes". Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics 11: 45–8. PMID 25160599. doi:10.1016/j.cbd.2014.08.001.
Véxase tamén
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Bibliografía
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- Shulman RS, Herbert PN, Wehrly K, Fredrickson DS (xaneiro de 1975). "Thf complete amino acid sequence of C-I (apoLp-Ser), an apolipoprotein from human very low density lipoproteins". The Journal of Biological Chemistry 250 (1): 182–90. PMID 166984.
- Lauer SJ, Walker D, Elshourbagy NA, Reardon CA, Levy-Wilson B, Taylor JM (maio de 1988). "Two copies of the human apolipoprotein C-I gene are linked closely to the apolipoprotein E gene". The Journal of Biological Chemistry 263 (15): 7277–86. PMID 2835369.
- Smit M, van der Kooij-Meijs E, Woudt LP, Havekes LM, Frants RR (maio de 1988). "Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene". Biochemical and Biophysical Research Communications 152 (3): 1282–8. PMID 2897845. doi:10.1016/S0006-291X(88)80424-8.
- Davison PJ, Norton P, Wallis SC, Gill L, Cook M, Williamson R, Humphries SE (maio de 1986). "There are two gene sequences for human apolipoprotein CI (apo CI) on chromosome 19, one of which is 4 kb from the gene for apo E". Biochemical and Biophysical Research Communications 136 (3): 876–84. PMID 3013172. doi:10.1016/0006-291X(86)90414-6.
- Myklebost O, Rogne S (agostp de 1986). "The gene for human apolipoprotein CI is located 4.3 kilobases away from the apolipoprotein E gene on chromosome 19". Human Genetics 73 (4): 286–9. PMID 3017837. doi:10.1007/BF00279087.
- Jackson RL, Sparrow JT, Baker HN, Morrisett JD, Taunton OD, Gotto AM (agosto de 1974). "The primary structure of apolopoprotein-serine". The Journal of Biological Chemistry 249 (16): 5308–13. PMID 4369340.
- Knott TJ, Robertson ME, Priestley LM, Urdea M, Wallis S, Scott J (maio de 1984). "Characterisation of mRNAs encoding the precursor for human apolipoprotein CI". Nucleic Acids Research 12 (9): 3909–15. PMC 318798. PMID 6328444. doi:10.1093/nar/12.9.3909.
- Servillo L, Brewer HB, Osborne JC (febreiro de 1981). "Evaluation of the mixed interaction between apolipoproteins A-II and C-I equilibrium sedimentation". Biophysical Chemistry 13 (1): 29–38. PMID 6789904. doi:10.1016/0301-4622(81)80022-1.
- Curry MD, McConathy WJ, Fesmire JD, Alaupovic P (April 1981). "Quantitative determination of apolipoproteins C-I and C-II in human plasma by separate electroimmunoassays". Clinical Chemistry 27 (4): 543–8. PMID 7471419. doi:10.1093/clinchem/27.4.543.
- Rozek A, Buchko GW, Cushley RJ (xuño de 1995). "Conformation of two peptides corresponding to human apolipoprotein C-I residues 7-24 and 35-53 in the presence of sodium dodecyl sulfate by CD and NMR spectroscopy". Biochemistry 34 (22): 7401–8. PMID 7779782. doi:10.1021/bi00022a013.
- Maruyama K, Sugano S (xaneiro de 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. PMID 8125298. doi:10.1016/0378-1119(94)90802-8.
- Trask B, Fertitta A, Christensen M, Youngblom J, Bergmann A, Copeland A, et al. (xaneiro de 1993). "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers". Genomics 15 (1): 133–45. PMID 8432525. doi:10.1006/geno.1993.1021.
- Kamino K, Yoshiiwa A, Nishiwaki Y, Nagano K, Yamamoto H, Kobayashi T, et al. (1996). "Genetic association study between senile dementia of Alzheimer's type and APOE/C1/C2 gene cluster". Gerontology. 42 Suppl 1: 12–9. PMID 8804993. doi:10.1159/000213820.
- Rozek A, Buchko GW, Kanda P, Cushley RJ (setembro de 1997). "Conformational studies of the N-terminal lipid-associating domain of human apolipoprotein C-I by CD and 1H NMR spectroscopy". Protein Science 6 (9): 1858–68. PMC 2143781. PMID 9300485. doi:10.1002/pro.5560060906.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (outubro de 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3.
- Halushka MK, Fan JB, Bentley K, Hsie L, Shen N, Weder A, et al. (July 1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nature Genetics 22 (3): 239–47. PMID 10391210. doi:10.1038/10297.
- Freitas EM, Zhang WJ, Lalonde JP, Tay GK, Gaudieri S, Ashworth LK, et al. (1999). "Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1". DNA Sequence 9 (2): 89–100. PMID 10520737. doi:10.3109/10425179809086433.
- Gautier T, Masson D, de Barros JP, Athias A, Gambert P, Aunis D, et al. (decembro de 2000). "Human apolipoprotein C-I accounts for the ability of plasma high density lipoproteins to inhibit the cholesteryl ester transfer protein activity". The Journal of Biological Chemistry 275 (48): 37504–9. PMID 10978346. doi:10.1074/jbc.M007210200.
- Hartley JL, Temple GF, Brasch MA (novembro de 2000). "DNA cloning using in vitro site-specific recombination". Genome Research 10 (11): 1788–95. PMC 310948. PMID 11076863. doi:10.1101/gr.143000.
Ligazóns externas
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- Localización no xenoma humano de APOC1 e páxina con detalles sobre o xene APOC1 no UCSC Genome Browser.
- PDBe-KB resume toda a información sobre estruturas dispoñible en PDB para a apoliporptoeína C1 humana