Deficijencija gulonolakton oksidaze
uredi
Nefunkcionalni pseudogen gulonolakton oksidaza (GULOP) je mapiran na humanom hromozomu 8p21. On odgovara evoluciono konzerviranom segmentu na bilo hromozomu 4 (SSC4) ili 14 (SSC14) svinje.[1][2][3] GULO proizvodi prekurzor askorbinske kiseline, koji se spontano konvertuje do vitamina ("vitamina C").
- ↑ GULOP Arhivirano 2007-09-27 na Wayback Machine-u - iHOP
- ↑ Nishikimi M, Koshizaka T, Ozawa T, Yagi K (December 1988). „Occurrence in humans and guinea pigs of the gene related to their missing enzyme L-gulono-gamma-lactone oxidase”. Arch. Biochem. Biophys. 267 (2): 842–6. DOI:10.1016/0003-9861(88)90093-8. PMID 3214183.
- ↑ Nishikimi M, Fukuyama R, Minoshima S, Shimizu N, Yagi K (May 1994). „Cloning and chromosomal mapping of the human nonfunctional gene for L-gulono-gamma-lactone oxidase, the enzyme for L-ascorbic acid biosynthesis missing in man”. J. Biol. Chem. 269 (18): 13685–8. PMID 8175804.
Literatura
uredi
- Zhang ZD, Frankish A, Hunt T, et al. (2010). „Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates.”. Genome biology 11 (3): R26. DOI:10.1186/gb-2010-11-3-r26. PMID 20210993.
- Inai Y, Ohta Y, Nishikimi M (2003). „The whole structure of the human nonfunctional L-gulono-gamma-lactone oxidase gene--the gene responsible for scurvy--and the evolution of repetitive sequences thereon.”. J. Nutr. Sci. Vitaminol. 49 (5): 315–9. PMID 14703305.
- Otowa T, Yoshida E, Sugaya N, et al. (2009). „Genome-wide association study of panic disorder in the Japanese population.”. J. Hum. Genet. 54 (2): 122–6. DOI:10.1038/jhg.2008.17. PMID 19165232.
