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

  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},
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… 
Searching for Signatures of Cold Climate Adaptation in TRPM8 Gene in Populations of East Asian Ancestry
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.
A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments
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.
The Impact of Early Human Migration on Brown Adipose Tissue Evolution and Its Relevance to the Modern Obesity Pandemic
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.
Multiple selective events at the PRDM16 functional pathway shaped adaptation of western European populations to different climate conditions.
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
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.
Insights into cold tolerance in sable (Martes zibellina) from the adaptive evolution of lipid metabolism
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.
Bone density and genomic analysis unfold cold adaptation mechanisms of ancient inhabitants of Tierra del Fuego
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
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
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
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.


Adaptations to Climate-Mediated Selective Pressures in Humans
The human genome is scanned for selection signals by identifying the SNPs with the strongest correlations between allele frequencies and climate across 61 worldwide populations, finding a striking enrichment of genic and nonsynonymous SNPs relative to non-genic SNPs among those that are strongly correlated with these climate variables.
Adaptations to Climate in Candidate Genes for Common Metabolic Disorders
This work used a bioinformatics approach based on network theory to select 82 candidate genes for common metabolic disorders and found correlations with climate variables and an excess of genic SNPs in the tail of the distributions of the test statistics compared to the control SNPs, implying that metabolic genes as a group show signals of spatially varying selection.
Regulatory changes contribute to the adaptive enhancement of thermogenic capacity in high-altitude deer mice
It is demonstrated that highland deer mice have an enhanced thermogenic capacity under hypoxia compared with lowland conspecifics and a closely related lowland species, Peromyscus leucopus, and Contrary to predictions derived from studies of humans at high altitude, the results suggest that selection to sustain prolonged thermogenesis under hypoxide promotes a shift in metabolic fuel use in favor of lipids over carbohydrates.
Human cold adaptation: An unfinished agenda
  • A. Steegmann
  • Biology
    American journal of human biology : the official journal of the Human Biology Council
  • 2007
The focus then shifted from climatic adaptation to problems of nutrition, disease, and stress, and many questions about human environmental patterns, especially in reference to their evolution, were abandoned rather than resolved.
Paleogenomics of Archaic Hominins
Neandertal energetics revisited: Insights into population dynamics and life history evolution
This work systematically reexamine Neandertal energy expenditure and intake through the lens of recent developments in contemporary human biology and nutritional science by using published sex-specific body mass estimates coupled with physiological information on contemporary high-latitude populations.
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians.
A case for the recent convergent evolution of a lighter pigmentation phenotype in Europeans and East Asians is supported by the testing for the presence of positive directional selection in 6 pigmentation genes using an empirical F(ST) approach and a role for MATP in determining normal skin pigmentation variation using admixture mapping methods.
Genetic history of an archaic hominin group from Denisova Cave in Siberia
A tooth found in Denisova Cave carries a mitochondrial genome highly similar to that of the finger bone, further indicating that Denisovans have an evolutionary history distinct from Neanderthals and modern humans.
Natural selection has driven population differentiation in modern humans
The degree of population differentiation is analyzed at 2.8 million Phase II HapMap single-nucleotide polymorphisms to identify a fraction of loci that have contributed, and probably still contribute, to the morphological and disease-related phenotypic diversity of current human populations.