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2015 ; 7
(9
): 2569-84
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Natural Selection at the Brush-Border: Adaptations to Carbohydrate Diets in
Humans and Other Mammals
#MMPMID26319403
Pontremoli C
; Mozzi A
; Forni D
; Cagliani R
; Pozzoli U
; Menozzi G
; Vertemara J
; Bresolin N
; Clerici M
; Sironi M
Genome Biol Evol
2015[Aug]; 7
(9
): 2569-84
PMID26319403
show ga
Dietary shifts can drive molecular evolution in mammals and a major transition in
human history, the agricultural revolution, favored carbohydrate consumption. We
investigated the evolutionary history of nine genes encoding brush-border
proteins involved in carbohydrate digestion/absorption. Results indicated
widespread adaptive evolution in mammals, with several branches experiencing
episodic selection, particularly strong in bats. Many positively selected sites
map to functional protein regions (e.g., within glucosidase catalytic crevices),
with parallel evolution at SI (sucrase-isomaltase) and MGAM
(maltase-glucoamylase). In human populations, five genes were targeted by
positive selection acting on noncoding variants within regulatory elements.
Analysis of ancient DNA samples indicated that most derived alleles were already
present in the Paleolithic. Positively selected variants at SLC2A5 (fructose
transporter) were an exception and possibly spread following the domestication of
specific fruit crops. We conclude that agriculture determined no major selective
event at carbohydrate metabolism genes in humans, with implications for
susceptibility to metabolic disorders.