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Human FADS genes and their adaptive evolution
Motysová, Natalia ; Priehodová, Edita (advisor) ; Kulichová, Iva (referee)
Long chain polyunsaturated fatty acids (LC-PUFA) are one of the key elements that help maintain the optimal health of our organism. Our body is unable to synthesize them de novo, thus we need to synthesize them using various enzymes including desaturases from the diet's precursors. The FADS1 and FADS2 genes encode Δ5D (FADS1) and Δ6D (FADS2) desaturases, which catalyse the desaturation steps of LC-PUFA biosynthesis. Within the FADS gene region, different genetic variants affecting desaturase activity have been identified, one example being single nucleotide mutations forming two haplotypes A (ancestral) and D (derived), a classification later redefined to haplogroup A and D. The activity of Δ5D and Δ6D fatty acid desaturases are influenced by the haplogroup. Individuals with haplogroup D show a higher level of FADS1 gene expression and haplogroup D is also associated with a more efficient conversion of 18-carbon PUFAs to LC-PUFAs. However, this feature varies across populations. Different types of environments require diverse adaptations, and it is adaptation to diet that is very evident in the FADS gene cluster. Higher FADS1 expression and more efficient conversion of 18-carbon PUFAs to LC-PUFAs will be favored in environments with reduced availability of these acids (Africa, India). On the...
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