FADS1 explained

Fatty acid desaturase 1 (FADS1) is an enzyme that in humans is encoded by the FADS1 gene.

Function

The protein encoded by the FADS1 gene is a member of the fatty acid desaturase (FADS) gene family and desaturates omega-3 and omega-6 polyunsaturated fatty acids at the delta-5 position, catalyzing the final step in the formation of eicosapentaenoic acid (EPA) and arachidonic acid.^[1] Desaturase enzymes (such as those encoded by FADS1) regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization.^[2]

Clinical significance

Single nucleotide polymorphisms (SNPs) of FADS1 and FADS2 may affect long-chain polyunsaturated fatty acids (LC-PUFA) metabolism and have a potential role in the development of atopic diseases.^[3]

References

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Andersson B . A "double adaptor" method for improved shotgun library construction . Anal. Biochem. . 236 . 1 . 107–13 . 1996 . 8619474 . 10.1006/abio.1996.0138 . vanc. Wentland MA . Ricafrente JY . 3 . Liu . W . Gibbs . RA .
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . vanc. Yoshitomo-Nakagawa K . Maruyama K . 3 . Suyama . Akira . Sugano . Sumio .
• Stöhr H . A Gene Map of the Best's Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1 . Genome Res. . 8 . 1 . 48–56 . 1998 . 9445487 . 10.1101/gr.8.1.48. 310689 . vanc. Marquardt A . Rivera A . 3 . Cooper . PR . Nowak . NJ . Shows . TB . Gerhard . DS . Weber . BH .
• Cho HP, Nakamura M, Clarke SD . Cloning, expression, and fatty acid regulation of the human delta-5 desaturase . J. Biol. Chem. . 274 . 52 . 37335–9 . 2000 . 10601301 . 10.1074/jbc.274.52.37335 . free .
• Leonard AE . cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid . Biochem. J. . 347 Pt 3 . 3. 719–24 . 2000 . 10769175 . 10.1042/0264-6021:3470719 . 1221008 . vanc. Kelder B . Bobik EG . 3 . Chuang . Lu-Te . Parker-Barnes . Jennifer M. . Thurmond . Jennifer M. . Kroeger . Paul E. . Kopchick . John J. . Huang . Yung-Sheng .
• Marquardt A, Stöhr H, White K, Weber BH . cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family . Genomics . 66 . 2 . 175–83 . 2000 . 10860662 . 10.1006/geno.2000.6196 .
• Brizio C . Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase . Biochem. Biophys. Res. Commun. . 344 . 3 . 1008–16 . 2006 . 16643857 . 10.1016/j.bbrc.2006.04.003 . vanc. Galluccio M . Wait R . 3 . Torchetti . Enza Maria . Bafunno . Valeria . Accardi . Rosita . Gianazza . Elisabetta . Indiveri . Cesare . Barile . Maria .
• Schaeffer L . Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids . Hum. Mol. Genet. . 15 . 11 . 1745–56 . 2006 . 16670158 . 10.1093/hmg/ddl117 . vanc. Gohlke H . Müller M . 3 . Heid . IM . Palmer . LJ . Kompauer . I . Demmelmair . H . Illig . T . Koletzko . B . free .
• Ma J . Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects . Atherosclerosis . 191 . 1 . 63–72 . 2007 . 16806233 . 10.1016/j.atherosclerosis.2006.05.032 . vanc. Dempsey AA . Stamatiou D . 3 . Marshall . K.Wayne . Liew . Choong-Chin .
• Dreesen TD . A newly discovered member of the fatty acid desaturase gene family: a non-coding, antisense RNA gene to delta5-desaturase . Prostaglandins Leukot. Essent. Fatty Acids . 75 . 2 . 97–106 . 2006 . 16846730 . 10.1016/j.plefa.2006.05.001 . vanc. Adamson AW . Tekle M . 3 . Tang . Chongren . Cho . Hyekung P. . Clarke . Steven D. . Gettys . Thomas W. .
• Ewing RM . Large-scale mapping of human protein–protein interactions by mass spectrometry . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 . vanc. Chu P . Elisma F . 3 . Li . Hongyan . Taylor . Paul . Climie . Shane . McBroom-Cerajewski . Linda . Robinson . Mark D . O'Connor . Liam .
• Risé P . Delta5 desaturase mRNA levels are increased by simvastatin via SREBP-1 at early stages, not via PPARalpha, in THP-1 cells . Eur. J. Pharmacol. . 571 . 2–3 . 97–105 . 2007 . 17655842 . 10.1016/j.ejphar.2007.06.021 . vanc. Ghezzi S . Carissimi R . 3 . Mastromauro . Francesca . Petroni . Anna . Galli . Claudio .

Notes and References

1. Brenna. J Thomas. An alternate pathway to long-chain polyunsaturates: the FADS2 gene product Δ8-desaturates 20:2n-6 and 20:3n-3. Journal of Lipid Research. June 2009. 50. 6. 1195–202. 10.1194/jlr.M800630-JLR200 . free . 19202133. 2681401.
2. Web site: Entrez Gene: FADS1 fatty acid desaturase 1.
3. Lattka . E. . Illig . T. . Heinrich . J. . Koletzko . B. . FADS Gene Cluster Polymorphisms: Important Modulators of Fatty Acid Levels and Their Impact on Atopic Diseases . 10.1159/000235559 . Journal of Nutrigenetics and Nutrigenomics . 2 . 3 . 119–128 . 2009 . 19776639 . 17077710 . free .