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1.
Sci Rep ; 14(1): 16894, 2024 Jul 23.
Article in English | MEDLINE | ID: mdl-39043764

ABSTRACT

The site of LuneryRosieres la-Terre-des-Sablons (Lunery, Cher, France) comprises early evidence of human occupation in mid-latitudes in Western Europe. It demonstrates hominin presence in the Loire River Basin during the Early Pleistocene at the transition between an interglacial stage and the beginning of the following glacial stage. Three archaeological levels sandwiched and associated with two diamicton levels deposited on the downcutting river floor indicate repeated temporary occupations. Lithic material yields evidence of simple and more complex core technologies on local Jurassic siliceous rocks and Oligocene millstone. Hominins availed of natural stone morphologies to produce flakes with limited preparation. Some cores show centripetal management and a partially prepared striking platform. The mean ESR age of 1175 ka ± 98 ka obtained on fluvial sediments overlying the archaeological levels could correspond to the transition between marine isotopic stages (MIS) 37 and 36, during the normal Cobb Mountain subchron, and in particular at the beginning of MIS 36. The Lunery site shows that hominins were capable of adapting to early glacial environmental conditions and adopting appropriate strategies for settling in mid-latitude zones. These areas cannot be considered as inhospitable at that time as Lunery lies at some distance from the forming ice cap.


Subject(s)
Archaeology , Geologic Sediments , Humans , Geologic Sediments/analysis , France , Technology/history , Animals , Fossils , Hominidae , Occupations/history , Europe
2.
Biol Lett ; 20(7): 20240185, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39045658

ABSTRACT

The announcement in 1925 by Raymond Dart of the discovery of the Taung juvenile's skull in a quarry in sub-Saharan Africa is deservedly a classic publication in the history of palaeoanthropology. Dart's paper-which designated Taung as the type specimen of the early hominin species Australopithecus africanus-provided the first fossil evidence supporting Charles Darwin's 1871 prediction that Africa was where the human lineage originated. The Taung juvenile's combination of ape and human characteristics eventually led to a paradigm shift in our understanding of human evolution. This contribution focuses on the milieu in which Dart's paper appeared (i.e. what was understood in 1925 about human evolution), the fossil evidence as set out by Dart, his interpretation of how a species represented by a fossilized juvenile's skull fitted within prevailing narratives about human evolution and the significance of the fossil being found in an environment inferred to be very different from that occupied by living apes. We also briefly review subsequent fossil finds that have corroborated the argument Dart made for having discovered evidence of a hitherto unknown close relative of humans, and summarize our current understanding of the earliest stages of human evolution and its environmental context.


Subject(s)
Biological Evolution , Fossils , Hominidae , Skull , Animals , Hominidae/anatomy & histology , Fossils/anatomy & histology , Skull/anatomy & histology , Humans , History, 20th Century , Africa
3.
PLoS One ; 19(7): e0307081, 2024.
Article in English | MEDLINE | ID: mdl-39012913

ABSTRACT

The handaxe is an iconic stone tool form used to define and symbolise both the Acheulean and the wider Palaeolithic. There has long been debate around the extent of its morphological variability between sites, and the role that extrinsic factors (especially raw material, blank type, and the extent of resharpening) have played in driving this variability, but there has been a lack of high-resolution examinations of these factors in the same study. In this paper, we present a 2D geometric morphometric analysis of 1097 handaxes from across Africa, the Levant, and western Europe to examine the patterning of this variability and what it can tell us about hominin behaviour. We replicate the findings of previous studies, that handaxe shape varies significantly between sites and entire continental regions, but we find no evidence for raw material, blank type, or resharpening in determining this pattern. What we do find, however, is that markers of reduction trajectory vary substantially between sites, suggesting that handaxes were deployed differently according to hominin need at a given site. We argue this is reflective of a continuum of reduction strategies, from those focused on the maintenance of a sharp cutting edge (i.e. direct use in cutting activities), to those focused on maintaining tip shapes, and perhaps a corresponding production of flakes. Implications for hominin behavioural flexibility are discussed.


Subject(s)
Archaeology , Hominidae , Hominidae/anatomy & histology , Animals , Tool Use Behavior , Fossils , Humans , Europe , Africa
5.
An Acad Bras Cienc ; 96(3): e20230680, 2024.
Article in English | MEDLINE | ID: mdl-38985030

ABSTRACT

Sahelanthropus tchadensis has raised much debate since its initial discovery in Chad in 2001, given its controversial classification as the earliest representative of the hominin lineage. This debate extends beyond the phylogenetic position of the species, and includes several aspects of its habitual behavior, especially in what regards its locomotion. The combination of ancestral and derived traits observed in the fossils associated with the species has been used to defend different hypotheses related to its relationship to hominins. Here, the cranial morphology of Sahelanthropus tchadensis was assessed through 16 linear craniometric measurements, and compared to great apes and hominins through Principal Component Analysis based on size and shape and shape information alone. The results show that S. tchadensis share stronger morphological affinities with hominins than with apes for both the analysis that include size information and the one that evaluates shape alone. Since TM 266-01-060-1 shows a strong morphological affinity with the remaining hominins represented in the analysis, our results support the initial interpretations that S. tchadensis represents an early specimen of our lineage or a stem basal lineage more closely related to hominins than to Panini.


Subject(s)
Cephalometry , Fossils , Hominidae , Skull , Animals , Hominidae/anatomy & histology , Hominidae/classification , Fossils/anatomy & histology , Skull/anatomy & histology , Principal Component Analysis , Phylogeny
6.
Sci Rep ; 14(1): 15628, 2024 07 07.
Article in English | MEDLINE | ID: mdl-38972912

ABSTRACT

This paper introduces a novel meta-heuristic algorithm named Rhinopithecus Swarm Optimization (RSO) to address optimization problems, particularly those involving high dimensions. The proposed algorithm is inspired by the social behaviors of different groups within the rhinopithecus swarm. RSO categorizes the swarm into mature, adolescent, and infancy individuals. Due to this division of labor, each category of individuals employs unique search methods, including vertical migration, concerted search, and mimicry. To evaluate the effectiveness of RSO, we conducted experiments using the CEC2017 test set and three constrained engineering problems. Each function in the test set was independently executed 36 times. Additionally, we used the Wilcoxon signed-rank test and the Friedman test to analyze the performance of RSO compared to eight well-known optimization algorithms: Dung Beetle Optimizer (DBO), Beluga Whale Optimization (BWO), Salp Swarm Algorithm (SSA), African Vultures Optimization Algorithm (AVOA), Whale Optimization Algorithm (WOA), Atomic Retrospective Learning Bare Bone Particle Swarm Optimization (ARBBPSO), Artificial Gorilla Troops Optimizer (GTO), and Harris Hawks Optimization (HHO). The results indicate that RSO exhibited outstanding performance on the CEC2017 test set for both 30 and 100 dimension. Moreover, RSO ranked first in both dimensions, surpassing the mean rank of the second-ranked algorithms by 7.69% and 42.85%, respectively. Across the three classical engineering design problems, RSO consistently achieves the best results. Overall, it can be concluded that RSO is particularly effective for solving high-dimensional optimization problems.


Subject(s)
Algorithms , Animals , Hominidae , Social Behavior , Behavior, Animal
8.
Nature ; 632(8023): 108-113, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38961285

ABSTRACT

Genetic and fragmented palaeoanthropological data suggest that Denisovans were once widely distributed across eastern Eurasia1-3. Despite limited archaeological evidence, this indicates that Denisovans were capable of adapting to a highly diverse range of environments. Here we integrate zooarchaeological and proteomic analyses of the late Middle to Late Pleistocene faunal assemblage from Baishiya Karst Cave on the Tibetan Plateau, where a Denisovan mandible and Denisovan sedimentary mitochondrial DNA were found3,4. Using zooarchaeology by mass spectrometry, we identify a new hominin rib specimen that dates to approximately 48-32 thousand years ago (layer 3). Shotgun proteomic analysis taxonomically assigns this specimen to the Denisovan lineage, extending their presence at Baishiya Karst Cave well into the Late Pleistocene. Throughout the stratigraphic sequence, the faunal assemblage is dominated by Caprinae, together with megaherbivores, carnivores, small mammals and birds. The high proportion of anthropogenic modifications on the bone surfaces suggests that Denisovans were the primary agent of faunal accumulation. The chaîne opératoire of carcass processing indicates that animal taxa were exploited for their meat, marrow and hides, while bone was also used as raw material for the production of tools. Our results shed light on the behaviour of Denisovans and their adaptations to the diverse and fluctuating environments of the late Middle and Late Pleistocene of eastern Eurasia.


Subject(s)
Caves , Fossils , Hominidae , Proteomics , Animals , Hominidae/classification , Hominidae/genetics , History, Ancient , Humans , Mandible/anatomy & histology , China , DNA, Mitochondrial/genetics , Bone and Bones/chemistry , Bone and Bones/anatomy & histology , Archaeology , Phylogeny
9.
Commun Biol ; 7(1): 682, 2024 Jun 14.
Article in English | MEDLINE | ID: mdl-38877299

ABSTRACT

Although the gross morphology of the heart is conserved across mammals, subtle interspecific variations exist in the cardiac phenotype, which may reflect evolutionary divergence among closely-related species. Here, we compare the left ventricle (LV) across all extant members of the Hominidae taxon, using 2D echocardiography, to gain insight into the evolution of the human heart. We present compelling evidence that the human LV has diverged away from a more trabeculated phenotype present in all other great apes, towards a ventricular wall with proportionally greater compact myocardium, which was corroborated by post-mortem chimpanzee (Pan troglodytes) hearts. Speckle-tracking echocardiographic analyses identified a negative curvilinear relationship between the degree of trabeculation and LV systolic twist, revealing lower rotational mechanics in the trabeculated non-human great ape LV. This divergent evolution of the human heart may have facilitated the augmentation of cardiac output to support the metabolic and thermoregulatory demands of the human ecological niche.


Subject(s)
Heart Ventricles , Hominidae , Phenotype , Animals , Humans , Heart Ventricles/anatomy & histology , Heart Ventricles/diagnostic imaging , Hominidae/anatomy & histology , Echocardiography , Biological Evolution , Pan troglodytes/anatomy & histology , Male , Female
10.
J Hum Evol ; 192: 103519, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38843697

ABSTRACT

An ape partial postcranial skeleton (KNM-NP 64631) was recovered during the 2015-2021 field seasons at Napudet, a Middle Miocene (∼13 Ma) locality in northern Kenya. Bony elements representing the shoulder, elbow, hip, and ankle joints, thoracic and lumbar vertebral column, and hands and feet, offer valuable new information about the body plan and positional behaviors of Middle Miocene apes. Body mass estimates from femoral head dimensions suggest that the KNM-NP 64631 individual was smaller-bodied (c. 13-17 kg) than some Miocene taxa from eastern Africa, including Ekembo nyanzae, and probably Equatorius africanus or Kenyapithecus wickeri, and was more comparable to smaller-bodied male Nacholapithecus kerioi individuals. Similar to many Miocene apes, the KNM-NP 64631 individual had hip and hallucal tarsometatarsal joints reflecting habitual hindlimb loading in a variety of postures, a distal tibia with a large medial malleolus, an inflated humeral capitulum, probably a long lumbar spine, and a long pollical proximal phalanx relative to femoral head dimensions. The KNM-NP 64631 individual departs from most Early Miocene apes in its possession of a more steeply beveled radial head and deeper humeral zona conoidea, reflecting enhanced supinating-pronating abilities at the humeroradial joint. The KNM-NP 64631 individual also differs from Early Miocene Ekembo heseloni in having a larger elbow joint (inferred from radial head size) relative to the mediolateral width of the lumbar vertebral bodies and a more asymmetrical talar trochlea, and in these ways recalls inferred joint proportions for, and talocrural morphology of, N. kerioi. Compared to most Early Miocene apes, the KNM-NP 64631 individual likely relied on more forelimb-dominated arboreal behaviors, perhaps including vertical climbing (e.g., extended elbow, hoisting). Moreover, the Napudet ape partial postcranial skeleton suggests that an arboreally adapted body plan characterized by relatively large (here, based on joint size) forelimbs, but lacking orthograde suspensory adaptations, may not have been 'unusual' among Middle Miocene apes.


Subject(s)
Fossils , Hominidae , Animals , Kenya , Fossils/anatomy & histology , Hominidae/anatomy & histology , Male , Female , Anthropology, Physical , Biological Evolution
11.
PLoS One ; 19(6): e0301002, 2024.
Article in English | MEDLINE | ID: mdl-38848328

ABSTRACT

The known diversity of European middle and late Miocene hominids has increased significantly during the last decades. Most of these great apes were frugivores in the broadest sense, ranging from soft fruit frugivores most like chimpanzees to hard/tough object feeders like orangutans, varying in size from larger than siamangs (over 17 kg) to larger than most chimpanzees (~60-70 kg). In contrast to the frequent sympatry of hominoids in the early-to-middle Miocene of Africa, in no European Miocene locality more than one hominid taxon has been identified. Here we describe the first case of hominid sympatry in Europe from the 11.62 Ma old Hammerschmiede HAM 5 level, best known from its excellent record of Danuvius guggenmosi. The new fossils are consistent in size with larger pliopithecoids but differ morphologically from any pliopithecoid and from Danuvius. They are also distinguished from early and middle Miocene apes, share affinities with late Miocene apes, and represent a small hitherto unknown late Miocene ape Buronius manfredschmidi. With an estimated body mass of about 10 kg it represents the smallest known hominid taxon. The relative enamel thickness of Buronius is thin and contrasts with Danuvius, whose enamel is twice as thick. The differences between Buronius and Danuvius in tooth and patellar morphology, enamel thickness and body mass are indicative of differing adaptations in each, permitting resource partitioning, in which Buronius was a more folivorous climber.


Subject(s)
Fossils , Hominidae , Animals , Fossils/anatomy & histology , Hominidae/anatomy & histology , Germany
12.
Cereb Cortex ; 34(6)2024 Jun 04.
Article in English | MEDLINE | ID: mdl-38869374

ABSTRACT

The central sulcus divides the primary motor and somatosensory cortices in many anthropoid primate brains. Differences exist in the surface area and depth of the central sulcus along the dorso-ventral plane in great apes and humans compared to other primate species. Within hominid species, there are variations in the depth and aspect of their hand motor area, or knob, within the precentral gyrus. In this study, we used post-image analyses on magnetic resonance images to characterize the central sulcus shape of humans, chimpanzees (Pan troglodytes), gorillas (Gorilla gorilla), and orangutans (Pongo pygmaeus and Pongo abelii). Using these data, we examined the morphological variability of central sulcus in hominids, focusing on the hand region, a significant change in human evolution. We show that the central sulcus shape differs between great ape species, but all show similar variations in the location of their hand knob. However, the prevalence of the knob location along the dorso-ventral plane and lateralization differs between species and the presence of a second ventral motor knob seems to be unique to humans. Humans and orangutans exhibit the most similar and complex central sulcus shapes. However, their similarities may reflect divergent evolutionary processes related to selection for different positional and habitual locomotor functions.


Subject(s)
Biological Evolution , Gorilla gorilla , Hominidae , Magnetic Resonance Imaging , Motor Cortex , Pan troglodytes , Phylogeny , Animals , Humans , Male , Pan troglodytes/anatomy & histology , Pan troglodytes/physiology , Gorilla gorilla/anatomy & histology , Gorilla gorilla/physiology , Female , Motor Cortex/anatomy & histology , Motor Cortex/physiology , Motor Cortex/diagnostic imaging , Hominidae/anatomy & histology , Hominidae/physiology , Adult , Hand/physiology , Hand/anatomy & histology , Young Adult , Pongo pygmaeus/anatomy & histology , Pongo pygmaeus/physiology , Species Specificity , Pongo abelii/anatomy & histology , Pongo abelii/physiology
13.
Proc Natl Acad Sci U S A ; 121(26): e2319175121, 2024 Jun 25.
Article in English | MEDLINE | ID: mdl-38885385

ABSTRACT

Cumulative culture, the accumulation of modifications, innovations, and improvements over generations through social learning, is a key determinant of the behavioral diversity across Homo sapiens populations and their ability to adapt to varied ecological habitats. Generations of improvements, modifications, and lucky errors allow humans to use technologies and know-how well beyond what a single naive individual could invent independently within their lifetime. The human dependence on cumulative culture may have shaped the evolution of biological and behavioral traits in the hominin lineage, including brain size, body size, life history, sociality, subsistence, and ecological niche expansion. Yet, we do not know when, in the human career, our ancestors began to depend on cumulative culture. Here, we show that hominins likely relied on a derived form of cumulative culture by at least ~600 kya, a result in line with a growing body of existing evidence. We analyzed the complexity of stone tool manufacturing sequences over the last 3.3 My of the archaeological record. We then compare these to the achievable complexity without cumulative culture, which we estimate using nonhuman primate technologies and stone tool manufacturing experiments. We find that archaeological technologies become significantly more complex than expected in the absence of cumulative culture only after ~600 kya.


Subject(s)
Archaeology , Hominidae , Animals , Humans , Cultural Evolution , Tool Use Behavior , Biological Evolution , Fossils , Technology , History, Ancient
14.
Am J Biol Anthropol ; 184(4): e24983, 2024 08.
Article in English | MEDLINE | ID: mdl-38864146

ABSTRACT

OBJECTIVES: Homo naledi is near the extreme of small brain size within Homo but is easily recognized as Homo in other aspects of endocast morphology. This study adds new evidence of the endocast morphology of H. naledi by describing the Lesedi Hominin 1 (LES1) endocranium from the Lesedi Chamber and compares it to the previously known H. naledi individual Dinaledi Hominin 3 (DH3) as well as other hominin taxa. MATERIALS AND METHODS: We examined interlandmark distances with both univariate and multivariate methods in multiple hominin taxa and both species of Pan. For each distance, we compared groups using adjusted Z-scores (Azs). Our multivariate analyses included both principal component analyses (PCA) and linear discriminant analyses (LDA). RESULTS: DH3 and LES1 each have absolute third frontal convolution measures that enter the upper half of the variation for Homo sapiens, Homo erectus, and Homo neanderthalensis. Examined relative to the cube root of endocranial volume, H. naledi ranks among the highest values in these samples of Homo. Both absolute and relative values for H. naledi specimens are far above Pan, Australopithecus, and Paranthropus, suggesting an expanded Broca's area. CONCLUSIONS: Both qualitative and quantitative analyses show consistency between LES1 and other H. naledi endocasts and confirm the shared morphology of H. naledi with H. sapiens, H. neanderthalensis, and some specimens of H. erectus.


Subject(s)
Fossils , Hominidae , Skull , Hominidae/anatomy & histology , Animals , Skull/anatomy & histology , Humans , Anthropology, Physical , Principal Component Analysis , Male
15.
J Hum Evol ; 191: 103547, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38781711

ABSTRACT

Historical biogeography provides crucial insights into understanding the evolutionary history of hominins. We applied maximum-likelihood and biogeographical stochastic mapping to infer the ancestral ranges of hominins and estimate the frequency of biogeographical events. These events were inferred using two time-calibrated phylogenetic trees that differ in the position of Australopithecus sediba. Results suggest that regardless of which phylogeny was selected, Northcentral Africa was the preferred ancestral region for the ancestor of the Homo-Pan clade, as well as the ancestor of Sahelanthropus and later hominins. The northern and middle part of eastern Africa was the preferred ancestral region for several clades originating at subsequent deep nodes of the trees (∼5-4 Ma). The choice of tree topology had one important effect on results: whether hominin ancestors appearing after ∼4 Ma were widespread or endemic. These different patterns highlight the biogeographic significance of the phylogenetic relationships of A. sediba. Overall, the results showed that dispersal, local extinction, and sympatry played vital roles in creating the hominin distribution, whereas vicariance and jump dispersal were not as common. The results suggested symmetry in the directionality of dispersals. Distance probably influenced how rapidly taxa colonized a new region, and dispersals often followed the closest path. These findings are potentially impacted by the imperfection of the fossil record, suggesting that the results should be interpreted cautiously.


Subject(s)
Hominidae , Phylogeny , Animals , Biological Evolution , Fossils , Phylogeography , Animal Distribution
16.
J Hum Evol ; 191: 103517, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38781712

ABSTRACT

The Kocabas specimen comes from a travertine quarry near the homonymous village in the Denizli basin (Turkey). The specimen comprises three main fragments: portions of the right and left parietal and left and right parts of the frontal bone. The fossil was assumed to belong to the Homo erectus s.l. hypodigm by some authors, whereas others see similarities with Middle Pleistocene fossils (Broken Hill 1/Kabwe, Bodo, or Ceprano). Here, we present the first attempt to make a complete reconstruction of the missing medial portion of the frontal bone and a comprehensive geometric morphometric analysis of this bone. We restored the calotte by aligning and mirroring the three preserved fragments. Afterward, we restored the missing portion by applying the thin-plate spline interpolation algorithm of target fossils onto the reconstructed Kocabas specimen. For the geometric morphometric analyses, we collected 80 landmarks on the frontal bone (11 osteometric points, 14 bilateral curve semilandmarks, and 41 surface semilandmarks). The comparative sample includes 21 fossils from different chronological periods and geographical areas and 30 adult modern humans from different populations. Shape analyses highlighted the presence in Kocabas of features usually related to Middle Pleistocene Homo, such as a developed supraorbital torus associated with a relatively short frontal squama and reduced post-toral sulcus. Cluster analysis and linear discriminant analysis classification procedure suggest Kocabas being part of the same taxonomic unit of Eurasian and African Middle Pleistocene Homo. In light of our results, we consider that attributing the Kocabas hominin to H. erectus s.l. may be unwarranted. Results of our analyses are compatible with different evolutionary scenarios, but a more precise chronological framework is needed for a thorough discussion of the evolutionary significance of this specimen. Future work should clarify its geological age, given uncertainties regarding its stratigraphic provenance.


Subject(s)
Biological Evolution , Fossils , Hominidae , Fossils/anatomy & histology , Hominidae/anatomy & histology , Hominidae/classification , Animals , Turkey , Frontal Bone/anatomy & histology
17.
J Hum Evol ; 191: 103546, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38795630

ABSTRACT

Vegetation change in eastern Africa during the Pliocene would have had an important impact on hominin adaptation and ecology, and it may have been a key driver of hominin macroevolution, including the extinction of Australopithecus and the emergence of Paranthropus and Homo. The Pliocene paleoanthropological site of Laetoli in Tanzania provides an opportunity to investigate the relationship between vegetation change and hominin turnover because it encompasses the time period when grass cover was spreading across eastern Africa and because hominin species turnover occurred locally at Laetoli, with Paranthropus aethiopicus in the Upper Ndolanya Beds (UNB) replacing Australopithecus afarensis in the Upper Laetolil Beds (ULB). However, it remains unresolved how the vegetation of the UNB and the ULB differed from each other. To examine differences between the two stratigraphic units, multiple proxies-hypsodonty, mesowear, and stable carbon isotopes of tooth enamel (δ13Cenamel)-are used to infer the diets of large herbivores and compare the dietary guild structure of the large herbivore communities. All three proxies indicate an increase in the abrasiveness and C4-content in the diets of the large herbivores in the UNB relative to those in the ULB. After inferring the diets of species based on all three proxies, the large herbivore community of the UNB had a greater proportion of grazers and a smaller proportion of mixed feeders than in the ULB but maintained a similar proportion of browsers and frugivores. The ULB community has few modern-day analogs, whereas the UNB community is most closely analogous to those in modern African grasslands. Thus, hominin turnover at Laetoli is associated with an increase in grass cover within a woodland-grassland mosaic and is part of a broader transformation of the herbivore community structure.


Subject(s)
Fossils , Herbivory , Hominidae , Animals , Tanzania , Hominidae/physiology , Diet , Biological Evolution , Carbon Isotopes/analysis , Dental Enamel
18.
19.
Nat Commun ; 15(1): 4380, 2024 May 23.
Article in English | MEDLINE | ID: mdl-38782905

ABSTRACT

SLC22A10 is an orphan transporter with unknown substrates and function. The goal of this study is to elucidate its substrate specificity and functional characteristics. In contrast to orthologs from great apes, human SLC22A10, tagged with green fluorescent protein, is not expressed on the plasma membrane. Cells expressing great ape SLC22A10 orthologs exhibit significant accumulation of estradiol-17ß-glucuronide, unlike those expressing human SLC22A10. Sequence alignments reveal a proline at position 220 in humans, which is a leucine in great apes. Replacing proline with leucine in SLC22A10-P220L restores plasma membrane localization and uptake function. Neanderthal and Denisovan genomes show proline at position 220, akin to modern humans, indicating functional loss during hominin evolution. Human SLC22A10 is a unitary pseudogene due to a fixed missense mutation, P220, while in great apes, its orthologs transport sex steroid conjugates. Characterizing SLC22A10 across species sheds light on its biological role, influencing organism development and steroid homeostasis.


Subject(s)
Primates , Animals , Humans , Amino Acid Sequence , Estradiol/metabolism , HEK293 Cells , Hominidae/genetics , Hominidae/metabolism , Mutation, Missense , Organic Cation Transport Proteins/metabolism , Organic Cation Transport Proteins/genetics , Primates/genetics , Pseudogenes , Substrate Specificity
20.
Hum Genomics ; 18(1): 53, 2024 May 27.
Article in English | MEDLINE | ID: mdl-38802968

ABSTRACT

BACKGROUND: The human lineage has undergone a postcranial skeleton gracilization (i.e. lower bone mass and strength relative to body size) compared to other primates and archaic populations such as the Neanderthals. This gracilization has been traditionally explained by differences in the mechanical load that our ancestors exercised. However, there is growing evidence that gracilization could also be genetically influenced. RESULTS: We have analyzed the LRP5 gene, which is known to be associated with high bone mineral density conditions, from an evolutionary and functional point of view. Taking advantage of the published genomes of archaic Homo populations, our results suggest that this gene has a complex evolutionary history both between archaic and living humans and within living human populations. In particular, we identified the presence of different selective pressures in archaics and extant modern humans, as well as evidence of positive selection in the African and South East Asian populations from the 1000 Genomes Project. Furthermore, we observed a very limited evidence of archaic introgression in this gene (only at three haplotypes of East Asian ancestry out of the 1000 Genomes), compatible with a general erasing of the fingerprint of archaic introgression due to functional differences in archaics compared to extant modern humans. In agreement with this hypothesis, we observed private mutations in the archaic genomes that we experimentally validated as putatively increasing bone mineral density. In particular, four of five archaic missense mutations affecting the first ß-propeller of LRP5 displayed enhanced Wnt pathway activation, of which two also displayed reduced negative regulation. CONCLUSIONS: In summary, these data suggest a genetic component contributing to the understanding of skeletal differences between extant modern humans and archaic Homo populations.


Subject(s)
Evolution, Molecular , Low Density Lipoprotein Receptor-Related Protein-5 , Neanderthals , Humans , Low Density Lipoprotein Receptor-Related Protein-5/genetics , Animals , Neanderthals/genetics , Selection, Genetic/genetics , Hominidae/genetics , Haplotypes/genetics , Bone Density/genetics , Genome, Human/genetics
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