scholarly journals A catalog of single nucleotide changes distinguishing modern humans from archaic hominins

2018 ◽  
Author(s):  
Martin Kuhlwilm ◽  
Cedric Boeckx

AbstractThroughout the past decade, studying ancient genomes provided unique insights into human prehistory, and differences between modern humans and other branches like Neanderthals can enrich our understanding of the molecular basis of unique modern human traits. Modern human variation and the interactions between different hominin lineages are now well studied, making it reasonable to go beyond fixed changes and explore changes that are observed at high frequency in present-day humans. Here, we identify 571 genes with non-synonymous changes at high frequency. We suggest that molecular mechanisms in cell division and networks affecting cellular features of neurons were prominently modified by these changes. Complex phenotypes in brain growth trajectory and cognitive traits are likely influenced by these networks and other changes presented here. We propose that at least some of these changes contributed to uniquely human traits, and should be prioritized for experimental validation.

2014 ◽  
Vol 2014 ◽  
pp. 1-19 ◽  
Author(s):  
Norahayu Othman ◽  
Noor Hasima Nagoor

Lung cancer remains to be one of the most common and serious types of cancer worldwide. While treatment is available, the survival rate of this cancer is still critically low due to late stage diagnosis and high frequency of drug resistance, thus highlighting the pressing need for a greater understanding of the molecular mechanisms involved in lung carcinogenesis. Studies in the past years have evidenced that microRNAs (miRNAs) are critical players in the regulation of various biological functions, including apoptosis, which is a process frequently evaded in cancer progression. Recently, miRNAs were demonstrated to possess proapoptotic or antiapoptotic abilities through the targeting of oncogenes or tumor suppressor genes. This review examines the involvement of miRNAs in the apoptotic process of lung cancer and will also touch on the promising evidence supporting the role of miRNAs in regulating sensitivity to anticancer treatment.


2018 ◽  
Vol 36 (4) ◽  
pp. 733-749 ◽  
Author(s):  
Xu Jiang ◽  
Liu Yanbin

Purpose Based on the significance of ectomycorrhizae (ECM) and increased publication activity on this subject, it was decided to carry out a bibliometric analysis of scientific outputs in this area. The purpose of this study is to reveal the research trends of scientific outputs on ECM for the past 30 years and provide a potential guide for future research. Design/methodology/approach A method of bibliometric analysis was performed, based on the online version of the Science Citation Index Expanded, Web of Science, from 1986 to 2017. The authors evaluated the publication types, languages, source countries, journals, the patterns of publication outputs, most-cited articles, most-productive authors, institutional distributions, subject categories, high-frequency keywords and keywords plus and high-frequency terms in the title and abstract of ectomycorrhizal research. Keywords, keywords plus and high-frequency terms in the title and abstract were analyzed via VOSviewer to illustrate the extent of co-occurrence. This study further describes the recent research priority or hotspots and reveals the research trends. Findings From 1986 to 2017, the publication output on ECM showed a rising trend; the number of articles has rapidly increased after 2003. Based on co-occurrence analysis for keywords, keywords plus and terms in the title and abstract, “ectomycorrhizal fungi” is the most popular keyword and keywords plus; “concentration” is the most high-frequency terms in the title and abstracts. Plant biology, mycology and ecology are the hotspots in the ectomycorrhizal research. Ectomycorrhizal taxonomy, the molecular mechanisms of ectomycorrhizal symbioses and the common mycorrhizal networks are the future direction. Originality/value A bibliometric analysis has been carried out to analyze the trends of ECM research with 30 years. This study provides a potential guide for future research related to ectomycorrhizae.


2019 ◽  
Vol 116 (5) ◽  
pp. 1639-1644 ◽  
Author(s):  
Martin Petr ◽  
Svante Pääbo ◽  
Janet Kelso ◽  
Benjamin Vernot

Several studies have suggested that introgressed Neandertal DNA was subjected to negative selection in modern humans. A striking observation in support of this is an apparent monotonic decline in Neandertal ancestry observed in modern humans in Europe over the past 45,000 years. Here, we show that this decline is an artifact likely caused by gene flow between modern human populations, which is not taken into account by statistics previously used to estimate Neandertal ancestry. When we apply a statistic that avoids assumptions about modern human demography by taking advantage of two high-coverage Neandertal genomes, we find no evidence for a change in Neandertal ancestry in Europe over the past 45,000 years. We use whole-genome simulations of selection and introgression to investigate a wide range of model parameters and find that negative selection is not expected to cause a significant long-term decline in genome-wide Neandertal ancestry. Nevertheless, these models recapitulate previously observed signals of selection against Neandertal alleles, in particular the depletion of Neandertal ancestry in conserved genomic regions. Surprisingly, we find that this depletion is strongest in regulatory and conserved noncoding regions and in the most conserved portion of protein-coding sequences.


2018 ◽  
Author(s):  
Martin Petr ◽  
Svante Pääbo ◽  
Janet Kelso ◽  
Benjamin Vernot

AbstractSeveral studies have suggested that introgressed Neandertal DNA was subjected to negative selection in modern humans due to deleterious alleles that had accumulated in the Neandertals after they split from the modern human lineage. A striking observation in support of this is an apparent monotonic decline in Neandertal ancestry observed in modern humans in Europe over the past 45 thousand years. Here we show that this apparent decline is an artifact caused by gene flow between West Eurasians and Africans, which is not taken into account by statistics previously used to estimate Neandertal ancestry. When applying a more robust statistic that takes advantage of two high-coverage Neandertal genomes, we find no evidence for a change in Neandertal ancestry in Western Europe over the past 45 thousand years. We use whole-genome simulations of selection and introgression to investigate a wide range of model parameters, and find that negative selection is not expected to cause a significant long-term decline in genome-wide Neandertal ancestry. Nevertheless, these models recapitulate previously observed signals of selection against Neandertal alleles, in particular a depletion of Neandertal ancestry in conserved genomic regions that are likely to be of functional importance. Thus, we find that negative selection against Neandertal ancestry has not played as strong a role in recent human evolution as had previously been assumed.


2012 ◽  
Vol 2012 ◽  
pp. 1-14 ◽  
Author(s):  
David J. Daegling

Among the unique traits of human mandibles is the finding of relatively greater utilization of cortical bone with respect to other hominoids. The functional significance of this trait is not plausibly linked to masticatory demands given the diminution of the masticatory musculature in human evolution and the behavioral universal of extraoral food preparation in recent humans. Similarly, the presence of more mandibular bone is not a correlated effect of systemic skeletal robusticity, since gracilization of the skeleton is a feature diagnostic of modern humans. The mandibular symphysis in modern humans is manifested as the chin, and it is here where cortical bone hypertrophy is most pronounced. The potential covariation between the expression of the chin and bone hypertrophy is explored in an attempt to clarify their respective biomechanical roles. Current developments in skeletal biomechanics implicate low magnitude, high frequency strains in bone hypertrophy. The physiology of speech production likely produces strains in mandibular bone of greater frequency and lesser magnitude than those associated with mastication. Consequently, language acquisition plausibly accounts for cortical hypertrophy in modern human mandibles. Its role in the evolution and development of the chin is less clear.


2016 ◽  
Vol 283 (1836) ◽  
pp. 20160235 ◽  
Author(s):  
Kevin G. Hatala ◽  
Brigitte Demes ◽  
Brian G. Richmond

Bipedalism is a key adaptation that shaped human evolution, yet the timing and nature of its evolution remain unclear. Here we use new experimentally based approaches to investigate the locomotor mechanics preserved by the famous Pliocene hominin footprints from Laetoli, Tanzania. We conducted footprint formation experiments with habitually barefoot humans and with chimpanzees to quantitatively compare their footprints to those preserved at Laetoli. Our results show that the Laetoli footprints are morphologically distinct from those of both chimpanzees and habitually barefoot modern humans. By analysing biomechanical data that were collected during the human experiments we, for the first time, directly link differences between the Laetoli and modern human footprints to specific biomechanical variables. We find that the Laetoli hominin probably used a more flexed limb posture at foot strike than modern humans when walking bipedally. The Laetoli footprints provide a clear snapshot of an early hominin bipedal gait that probably involved a limb posture that was slightly but significantly different from our own, and these data support the hypothesis that important evolutionary changes to hominin bipedalism occurred within the past 3.66 Myr.


2020 ◽  
Author(s):  
Steven Samuel

Research and thinking into the cognitive aspects of language evolution has usually attempted to account for how the capacity for learning even one modern human language developed. Bilingualism has perhaps been thought of as something to think about only once the ‘real’ puzzle of monolingualism is solved, but this would assume in turn (and without evidence) that bilingualism evolved after monolingualism. All typically-developing children (and adults) are capable of learning multiple languages, and the majority of modern humans are at least bilingual. In this paper I ask whether by skipping bilingualism out of language evolution we have missed a trick. I propose that exposure to synonymous signs, such as food and alarm calls, are a necessary precondition for the abstracting away of sound from referent. In support of this possibility is evidence that modern day bilingual children are better at breaking this ‘word magic’ spell. More generally, language evolution should be viewed through the lens of bilingualism, as this is the end state we are attempting to explain.


2018 ◽  
Vol 18 (2) ◽  
pp. 156-165 ◽  
Author(s):  
Jiaqiang Wang ◽  
Chien-shan Cheng ◽  
Yan Lu ◽  
Xiaowei Ding ◽  
Minmin Zhu ◽  
...  

Background: Propofol, a widely used intravenous anesthetic agent, is traditionally applied for sedation and general anesthesia. Explanation: Recent attention has been drawn to explore the effect and mechanisms of propofol against cancer progression in vitro and in vivo. Specifically, the proliferation-inhibiting and apoptosis-inducing properties of propofol in cancer have been studied. However, the underlying mechanisms remain unclear. Conclusion: This review focused on the findings within the past ten years and aimed to provide a general overview of propofol's malignance-modulating properties and the potential molecular mechanisms.


2020 ◽  
Vol 14 ◽  
Author(s):  
Abhishek Kumar ◽  
Neeraj Masand ◽  
Vaishali M. Patil

Abstract: Breast cancer is the most common and highly heterogeneous neoplastic disease comprised of several subtypes with distinct molecular etiology and clinical behaviours. The mortality observed over the past few decades and the failure in eradicating the disease is due to the lack of specific etiology, molecular mechanisms involved in initiation and progression of breast cancer. Understanding of the molecular classes of breast cancer may also lead to new biological insights and eventually to better therapies. The promising therapeutic targets and novel anti-cancer approaches emerging from these molecular targets that could be applied clinically in the near future are being highlighted. In addition, this review discusses some of the details of current molecular classification and available chemotherapeutics


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Fang Fang ◽  
Jie Zhang ◽  
Pei Zhuang ◽  
Pingting Liu ◽  
Liang Li ◽  
...  

AbstractRecently, we established silicone oil-induced ocular hypertension (SOHU) mouse model with significant glaucomatous neurodegeneration. Here we characterize two additional variations of this model that simulate two distinct glaucoma types. The first is a chronic model produced by high frequency (HF) pupillary dilation after SO-induced pupillary block, which shows sustained moderate IOP elevation and corresponding slow, mild glaucomatous neurodegeneration. We also demonstrate that although SO removal quickly returns IOP to normal, the glaucomatous neurodegeneration continues to advance to a similar degree as in the HF group without SO removal. The second, an acute model created by no pupillary dilation (ND), shows a greatly elevated IOP and severe inner retina degeneration at an early time point. Therefore, by a straightforward dilation scheme, we extend our original SOHU model to recapitulate phenotypes of two major glaucoma forms, which will be invaluable for selecting neuroprotectants and elucidating their molecular mechanisms.


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