Searching for signatures of cold adaptations in modern and archaic humans: hints from the brown adipose tissue genes

@article{Sazzini2014SearchingFS,
  title={Searching for signatures of cold adaptations in modern and archaic humans: hints from the brown adipose tissue genes},
  author={Marco Sazzini and Gipi Schiavo and Sara De Fanti and Pier Luigi Martelli and Rita Casadio and Donata Luiselli},
  journal={Heredity},
  year={2014},
  volume={113},
  pages={259-267}
}
Adaptation to low temperatures has been reasonably developed in the human species during the colonization of the Eurasian landmass subsequent to Out of Africa migrations of anatomically modern humans. In addition to morphological and cultural changes, also metabolic ones are supposed to have favored human isolation from cold and body heat production and this can be hypothesized also for most Neandertal and at least for some Denisovan populations, which lived in geographical areas that strongly… 
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A very promising single nucleotide polymorphism (SNP) was found, rs7577262, considered the best candidate based on its allelic correlations with winter temperatures, signatures of selective sweep and physiological evidences, at least in populations with the predominant East Asian component.
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A compendium combining mammalian genes involved in adaptation to cold environment was designed, based on the intersection of positively selected genes from six Arctic and Antarctic species, which revealed that genes from compendium were over-represented in the lists of genes expressed in the lung and liver.
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Key genetic variants influencing BAT thermogenesis are outlined that have also been linked with climatic exposure to cold and appear to support the theory that evolutionary factors relevant to climate may have shaped the modern obesity pandemic.
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TLDR
The genetic background of distinct western European human groups at loci involved in nutritional and thermoregulation processes was explored, to test whether patterns of differential local adaptation to environmental conditions could be appreciated also at a lower geographical scale.
Neanderthal and Woolly Mammoth Molecular Resemblance: Genetic Similarities May Underlie Cold Adaptation Suite
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The authors assessed the degree of resemblance between mammoth and Neanderthal genetic components by reviewing three case studies of relevant gene variants and alleles associated with cold-climate adaptation found in both genomes.
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The PNLIP and ACSS2 genes have received positive selection and the GOT2 gene has undergone rapid evolution and GO enrichment analysis on the differentially expressed genes showed they were significantly enriched in GO entries, such as lipid metabolism, lipase activity, and glucose metabolism.
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TLDR
It is shown that, despite the unfavorable climate, bone mineral density of Fuegians was close to that seen in modern humans living in temperate zones and a gene involved in BAT differentiation, rs190771160 variant, whose identified variant is predicted to upregulate HOXC4 expression is reported.
Investigating Mitonuclear Genetic Interactions Through Machine Learning: A Case Study on Cold Adaptation Genes in Human Populations From Different European Climate Regions
TLDR
This study aims to investigate mitonuclear genetic interactions by considering all the mitochondrial genes and 28 nuclear genes involved in brown adipose tissue metabolism by using a machine learning approach to identify relevant nucDNA–mtDNA interactions that characterized each population.
Dietary adaptation in Neandertal, Denisovan and Sapiens revealed by gene copy number variation
TLDR
Interpreting the copy number profiles in relation to fossil evidence shows that Homo sapiens had an evolutionary advantage compared to Neandertal and Denisovan in adapting to cold and temperate ecosystems.
Impact and evolutionary determinants of Neanderthal introgression on transcriptional and post-transcriptional regulation
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This study explored the impact of archaic introgression on transcriptional and post-transcriptional regulation, focusing on promoters and enhancers across 127 different tissues as well as microRNA-mediated regulation, and identified signatures of adaptiveintrogression at enhancers of some key regulators of adipogenesis.
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