- MeSH
- antropologie metody MeSH
- genom lidský genetika MeSH
- lidé MeSH
- neandertálci genetika MeSH
- populační genetika MeSH
- starobylá DNA * analýza izolace a purifikace MeSH
- tok genů genetika MeSH
- vývoj člověka MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
f-statistics have emerged as a first line of analysis for making inferences about demographic history from genome-wide data. Not only are they guaranteed to allow robust tests of the fits of proposed models of population history to data when analyzing full genome sequencing data-that is, all single nucleotide polymorphisms (SNPs) in the individuals being analyzed-but they are also guaranteed to allow robust tests of models for SNPs ascertained as polymorphic in a population that is an outgroup in a phylogenetic sense to all groups being analyzed. True "outgroup ascertainment" is in practice impossible in humans because our species has arisen from a substructured ancestral population that does not descend from a homogeneous ancestral population going back many hundreds of thousands of years into the past. However, initial studies suggested that non-outgroup-ascertainment schemes might produce robust enough results using f-statistics, and that motivated widespread fitting of models to data using non-outgroup-ascertained SNP panels such as the "Affymetrix Human Origins array" which has been genotyped on thousands of modern individuals from hundreds of populations, or the "1240k" in-solution enrichment reagent which has been the source of about 70% of published genome-wide data for ancient humans. In this study, we show that while analyses of population history using such panels work well for studies of relationships among non-African populations and one African outgroup, when co-modeling more than one sub-Saharan African and/or archaic human groups (Neanderthals and Denisovans), fitting of f-statistics to such SNP sets is expected to frequently lead to false rejection of true demographic histories, and failure to reject incorrect models. Analyzing panels of SNPs polymorphic in archaic humans, which has been suggested as a solution for the ascertainment problem, has limited statistical power and retains important biases. However, by carrying out simulations of diverse demographic histories, we show that bias in inferences based on f-statistics can be minimized by ascertaining on variants common in a union of diverse African groups; such ascertainment retains high statistical power while allowing co-analysis of archaic and modern groups.
- MeSH
- Afričané * genetika MeSH
- biologická variabilita populace genetika MeSH
- černoši genetika MeSH
- demografie * dějiny MeSH
- fylogeneze * MeSH
- genotyp MeSH
- jednonukleotidový polymorfismus * genetika MeSH
- lidé MeSH
- mapování chromozomů MeSH
- neandertálci genetika MeSH
- statistické modely MeSH
- zkreslení výsledků (epidemiologie) MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
In this study we use comparative genomics to uncover a gene with uncharacterized function (1700011H14Rik/C14orf105/CCDC198), which we hereby name FAME (Factor Associated with Metabolism and Energy). We observe that FAME shows an unusually high evolutionary divergence in birds and mammals. Through the comparison of single nucleotide polymorphisms, we identify gene flow of FAME from Neandertals into modern humans. We conduct knockout experiments on animals and observe altered body weight and decreased energy expenditure in Fame knockout animals, corresponding to genome-wide association studies linking FAME with higher body mass index in humans. Gene expression and subcellular localization analyses reveal that FAME is a membrane-bound protein enriched in the kidneys. Although the gene knockout results in structurally normal kidneys, we detect higher albumin in urine and lowered ferritin in the blood. Through experimental validation, we confirm interactions between FAME and ferritin and show co-localization in vesicular and plasma membranes.
- MeSH
- genetický drift MeSH
- genetika člověka * MeSH
- lidé MeSH
- neandertálci MeSH
- Nobelova cena MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- novinové články MeSH
OBJECTIVES: A marked asymmetry was previously reported in the sacral alae and S1-L5 facets orientation of the Neandertal individual Regourdou 1. Here, we provide a detailed description and quantification of the morphology and degree of asymmetry of this sacrum. MATERIAL AND METHODS: Regourdou 1 was compared to a modern human sample composed of 24 females and 17 males, and to other Neandertal individuals. Both traditional and geometric morphometric analyses were used in order to quantify the degree of sacral asymmetry of Regourdou 1. RESULTS: The asymmetry of both sacral alae and facets orientation substantially exceeds directional and absolute asymmetry of the healthy modern sample. Regourdou 1 shows a considerably shorter right ala, which is absolutely and relatively outside of the modern and Neandertal variations. CONCLUSION: Regourdou 1 shows marked sacral asymmetry that probably originated in early ontogenetic development. An asymmetric sacrum reflects asymmetric load dissipation and could relate to other morphological abnormalities observed in the skeleton, especially the mild scoliosis of the spine and the asymmetry of the femoral diaphyses. Further investigation is necessary to elucidate the relationship between those morphologies as well as a potential impact on the life of the individual.
- MeSH
- křížová kost abnormality MeSH
- neandertálci abnormality MeSH
- zkameněliny anatomie a histologie MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Francie MeSH
A Neanderthal endocast, naturally formed by travertine within the crater of a thermal spring, was found at Gánovce, near Poprad (Slovakia), in 1926, and dated to 105 ka. The endocast is partially covered by fragments of the braincase. The volume of the endocast was estimated to be 1320 cc. The endocast was first studied by the Czech paleoanthropologist Emanuel Vlček, who performed metric and morphological analyses which suggested its Neanderthal origin. Vlček published his works more than fifty years ago, but the fossil is scarcely known to the general paleoanthropological community, probably because of language barriers. Here, we review the historical and anatomical information available on the endocasts, providing additional paleoneurological assessments on its features. The endocast displays typical Neanderthal traits, and its overall appearance is similar to Guattari 1, mostly because of the pronounced frontal width and occipital bulging. The morphology of the Gánovce specimen suggests once more that the Neanderthal endocranial phenotype had already evolved at 100 ka.
- MeSH
- Hominidae anatomie a histologie MeSH
- lebka anatomie a histologie MeSH
- lidé MeSH
- mozek anatomie a histologie MeSH
- neandertálci anatomie a histologie klasifikace fyziologie MeSH
- paleontologie MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Slovenská republika MeSH
- MeSH
- antropologie fyzická MeSH
- archeologie MeSH
- DNA analýza MeSH
- kosti a kostní tkáň * anatomie a histologie MeSH
- lidé MeSH
- neandertálci * MeSH
- Check Tag
- lidé MeSH
- Geografické názvy
- Sibiř MeSH
Cílem studie je zhodnotit možnosti lokomoce druhu Homo neanderthalensis a porovnat zjištěné skutečnosti s lokomocí moderního člověka (Homo sapiens). Po krátké charakteristice neandertálců následuje popis jednotlivých druhů lokomoce. Možnosti lokomoce neandertálců jsou (kromě přírodních podmínek) závislé především na kostře osové (zde je důležitá bederní lordóza a s ní související lordotický úhel) a na morfologii horních a také dolních končetin. Horní končetiny jsou uvažovány v souvislosti s manuální zručností a se škrábáním a házením. Zmíněna je také jejich síla. Morfologie dolních končetin má vliv na chůzi a běh, činnosti spojené s pohybem kolenního a hlezenního kloubu.
The aim of this study is to evaluate the locomotion of Homo neanderthalensis and to compare the observed evidence with the locomotion of modern human (Homo sapiens). After a brief introduction to Neanderthal problematics follows the description of individual types of locomotion. Beside the environment, the possibilities of Neanderthal locomotion depend on the morphology of axial skeleton, namely the lumbar lordosis and the lordotic angle. The morphology of the upper and lower limb display its importance too. Upper limbs are considered with respect to manual dexterity, scraping and throwing. The morphology of the lower limbs influences walking and running, together with activities associated to movements of the knee and ankle joint.
- MeSH
- antropologie fyzická * MeSH
- antropometrie * MeSH
- běh klasifikace MeSH
- biologická evoluce MeSH
- chůze (způsob) MeSH
- činnosti denního života MeSH
- kosterní svaly MeSH
- kostra anatomie a histologie MeSH
- lidé MeSH
- lokomoce * MeSH
- lordóza klasifikace MeSH
- neandertálci * anatomie a histologie MeSH
- síla ruky MeSH
- svalová síla MeSH
- tělesné pozůstatky anatomie a histologie MeSH
- tělesné váhy a míry MeSH
- Check Tag
- lidé MeSH
Relatively high 15N abundances in bone collagen of early anatomically modern humans in Europe have often been interpreted as a specific consumption of freshwater resources, even if mammoth is an alternative high 15N prey. At Buran-Kaya III, access to associated fauna in a secured archaeological context and application of recently developed isotopic analyses of individuals amino acids offer the opportunity to further examine this hypothesis. The site of Buran-Kaya III is located in south Crimea and has provided a rich archaeological sequence including two Upper Palaeolithic layers, from which human fossils were retrieved and directly dated as from 37.8 to 33.1 ka cal BP. Results from bulk collagen of three human remains suggests the consumption of a high 15N prey besides the contribution of saiga, red deer, horse and hare, whose butchered remains were present at the site. In contrast to bulk collagen, phenylalanine and glutamic acid 15N abundances reflect not only animal but also plant protein contributions to omnivorous diet, and allow disentangling aquatic from terrestrial resource consumption. The inferred human trophic position values point to terrestrial-based diet, meaning a significant contribution of mammoth meat, in addition to a clear intake of plant protein.
- MeSH
- býložravci * MeSH
- dieta * MeSH
- izotopy dusíku analýza MeSH
- kolagen chemie MeSH
- lidé MeSH
- masožravci * MeSH
- neandertálci fyziologie MeSH
- zkameněliny * MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Evropa MeSH
