Signatures of positive selection on the hepatic lipase gene in human populations
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RESEARCH NOTE
Signatures of positive selection on the hepatic lipase gene in human populations SERGIO V. FLORES1,2*
, CARLA F. OLIVARI1 and LUIS FLORES PRADO3
1Laboratorio de Gene´tica y Bioantropologı´a, Departamento de Antropologı´a, Facultad de Ciencias Sociales, Universidad de Chile, Avenida Ignacio Carrera Pinto 1045, N˜un˜oa 7750000, Santiago, Chile 2Present Address: Labortorio de Geno ´ mica Evolutiva, N˜un˜oa 7750000, Santiago, Chile 3Instituto de Entomologı´a, Universidad Metropolitana de Ciencias de la Educacio ´ n, N˜un˜oa 7750000, Santiago, Chile
*For correspondence. E-mail: sergiovladimirfl[email protected]. Received 13 June 2018; revised 20 June 2019; accepted 17 September 2019 Abstract. The hepatic lipase plays a central role in the lipid metabolism, catalyzing the hydrolysis of phospholipids, monoglycerides, diglycerides, and triglycerides, and acyl-CoA. It is also implied in the conversion of very low-density lipoprotein and intermediate density lipoprotein to low density lipoproteins. As a consequence, the gene encoding the hepatic lipase (LIPC) is associated with several diseases derived from the imbalance of lipids that are in general derived from the interaction between life styles and genetic architecture. Therefore, it is interesting to understand more about the characteristics of the microevolutionary processes affecting genes that, like LIPC, have a role in nutrition and lipid metabolism in human populations. We explored the selection signatures on LIPC in 26 populations, detecting three regions under recent positive selection. Keywords.
hepatic lipase; positive selection; Tajima’s D; Fu and Li test; 1000 genomes.
Introduction Hepatic lipase (LIPC) is a member of the lipase gene family (Asuka and Aoki 2006) and is a cluster of genes with extracellular phospholipase A1 activity. Holmes et al. (2011) reported that the origin of LIPC predated fish in the vertebrate evolution. The same authors also found a relatively high rate of evolution (2–3 times) affecting LIPC in comparison with lipoprotein lipase (LPL) in vertebrates, according to branch lengths from phylogenetic analysis using protein sequences. This observation could be interpreted as a balance between positive selection on LIPC favouring aminoacidic divergence, and/or negative selection on LPL. Thus, neutral evolution appears to be refuted and, therefore, natural selection seems to have had a role in the evolution of lipase genes. Signals of positive selection on lipid catabolism genes have been found in contemporary Europeans from Neanderthal ancestry alleles. Khrameeva et al. (2014) found that variants shared between humans and Neanderthal are specifically enriched in genes involved in lipid catabolism in contemporary Europeans. In other study, Metspalu et al. (2011) scanned
high haplotype homozygosity regions in Indian populations, founding signals of positive selection on MSTN and DOK5, two loci associated with lipid metabolism and type 2 diabetes. At least
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