The nineteenth century neuroscience studied the instinct of animal to understand the human mind. In particular, it has been found that the inheritance of unconscious behavior like instinct is mediated through ganglion chains, such as the spinal cord or sympathetic nervous system, which control unconscious reflexes. At the same time, the theory of Inheritance of Acquired Characteristics (hereafter ‘IAC’) widely known as Lamarck's evolutionary theory provided the theoretical frame on the origin of instinct and the heredity of action that the parental generation's habits were converted into the nature of the offspring generation. Contrary to conventional knowledge, this theory was not originally invented by Lamarck, and Darwin also did not discard this theory even after discovering the theory of natural selection in 1838 and maintained it throughout his intellectual life. Above all, in the field of epigenetics, the theory of ‘IAC’ has gained attention as a reliable scientific theory today. Darwin discovered crucial errors in the late 1830s that the Lamarck version's theory of ‘IAC’ did not adequately account for the principle of the inheritance of unconscious behavior like instinct. Lamarck's theory regarded habits as conscious and willful acts and saw that those habits are transmitted through the brain to control conscious actions. Lamarck's theory could not account for the complex and elaborate instincts of invertebrate animals, such as brainless ants. Contrary to Lamarck's view, Darwin established the new theory of ‘IAC’ that could be combined with contemporary neurological theory, which explains the heredity of unconscious behavior. Based on the knowledge of neurology, Darwin was able to translate the ‘principle of habit’ into a neurological term called ‘principle of reflex’. This article focuses on how Darwin join the theory of ‘IAC’ with nineteenth century neuroscience and how the neurological knowledge from the nineteenth century contributed to Darwin's overcoming of Lamarck's ‘IAC’. The significance of this study is to elucidate Darwin's notion of ‘IAC’ theory rather than natural selection theory as a principle of heredity of behavior. The theory of ‘IAC’ was able to account for the rapid variation of instincts in a relatively short period of time, unlike natural selection, which operates slowly in geological time spans of tens of millions of years. The nineteenth century neurological theory also provided neurological principles for ‘plasticity of instinct,’ empirically supporting the fact that all nervous systems responsible for reflexes respond sensitively to very fine stimuli. However, researchers of neo-Darwinian tendencies, such as Richard Dawkins and evolutionary psychologists advocating the ‘selfish gene’ hypothesis, which today claim to be Darwin's descendants, are characterized by human nature embedded in biological information, such as the brain and genes, so that it cannot change at all. This study aims to contribute to reconstructing the evolutionary discourse by illuminating Darwin's insights into the “plasticity of nature” that instincts can change relatively easily even at the level of invertebrates such as earthworms.
Animals ; Ants ; Brain ; Epigenomics ; Ganglion Cysts ; Heredity ; Human Characteristics ; Humans ; Instinct ; Invertebrates ; Nervous System ; Neurology ; Neurosciences ; Oligochaeta ; Parents ; Psychology ; Reflex ; Selection, Genetic ; Spinal Cord ; Sympathetic Nervous System ; Transcutaneous Electric Nerve Stimulation ; Wills

Human infections due to the monkey malaria parasite Plasmodium knowlesi is increasingly being reported from most Southeast Asian countries specifically Malaysia. The parasite causes severe and fatal malaria thus there is a need for urgent measures for its control. In this study, the level of polymorphisms, haplotypes and natural selection of full-length pkmsp8 in 37 clinical samples from Malaysian Borneo along with 6 lab-adapted strains were investigated. Low levels of polymorphism were observed across the full-length gene, the double epidermal growth factor (EGF) domains were mostly conserved, and non-synonymous substitutions were absent. Evidence of strong negative selection pressure in the non-EGF regions were found indicating functional constrains acting at different domains. Phylogenetic haplotype network analysis identified shared haplotypes and indicated geographical clustering of samples originating from Peninsular Malaysia and Malaysian Borneo. This is the first study to genetically characterize the full-length msp8 gene from clinical isolates of P. knowlesi from Malaysia; however, further functional characterization would be useful for future rational vaccine design.
Asian Continental Ancestry Group ; Borneo ; Epidermal Growth Factor ; Genetic Variation ; Haplorhini ; Haplotypes ; Humans ; Malaria ; Malaysia ; Merozoites ; Parasites ; Plasmodium knowlesi ; Selection, Genetic

Like the body of Hominin, mind is the result of natural selection. Therefore, an evolutionary approach in the biological aspects is essential for an intrinsic understanding of mental disorders. However, the evolutionary medical approach to mental disordershas not been well researched because evolutionary psychiatry is not widely accepted, and the conceptual paradigm has not been unified. Nevertheless, some evolutionary hypotheses about some mental disorders have been proposed, including the following: 1) thesimple disease argument that mental disorder is a mere disease, 2) the genomic lag hypothesis that current genes are incompatible with evolutionary environmental changes, 3) the developmental mismatch hypothesis that brain development cannot reflect entire-information of surrounding environment, 4) the trade-off hypothesis that costs are offset by other adaptive benefits, 5) the by-product hypothesis that mental disorders are inevitable outcome of evolutionary design, 6) the cliff-edge model that the encephalizationin the Hominin caused mental disorders, 7) the inclusive fitness hypothesis that costs of individual are compensated by benefits of kinship, 8) the antagonistic polymorphism hypothesis that differential costs and benefits according to sex or age cause ofpolymorphic psychological traits 9) the heterozygote advantage hypothesis that the heterozygous genotypes have higher relative fitness, so they can persist even though homozygous genotypes cause mental disorders, and 10) a genomic imprinting hypothesis that conflicts between maternal genes and paternal genes cause mental disorders. I will summarize and compare the evolutionary hypotheses of mental disorders and present the lim itations of each hypothesis.
Brain ; Cost-Benefit Analysis ; Genomic Imprinting ; Genotype ; Heterozygote ; Hominidae ; Humans ; Mental Disorders ; Selection, Genetic

No abstract available.
Receptors, Odorant ; Polymorphism, Single Nucleotide ; Selection, Genetic ; Livestock ; Genomics* ; Genotype ; Olfactory Receptor Neurons

Plasmodium vivax merozoite surface protein-1 (PvMSP1) gene codes for a major malaria vaccine candidate antigen. However, its polymorphic nature represents an obstacle to the design of a protective vaccine. In this study, we analyzed the genetic polymorphism and natural selection of the C-terminal 42 kDa fragment within PvMSP1 gene (Pv MSP142) from 77 P. vivax isolates, collected from imported cases of China-Myanmar border (CMB) areas in Yunnan province and the inland cases from Anhui, Yunnan, and Zhejiang province in China during 2009–2012. Totally, 41 haplotypes were identified and 30 of them were new haplotypes. The differences between the rates of non-synonymous and synonymous mutations suggest that PvMSP142 has evolved under natural selection, and a high selective pressure preferentially acted on regions identified of PvMSP133. Our results also demonstrated that PvMSP142 of P. vivax isolates collected on China-Myanmar border areas display higher genetic polymorphisms than those collected from inland of China. Such results have significant implications for understanding the dynamic of the P. vivax population and may be useful information towards China malaria elimination campaign strategies.
China ; Genetic Variation* ; Haplotypes ; Malaria ; Merozoite Surface Protein 1* ; Merozoites* ; Myanmar ; Plasmodium vivax* ; Plasmodium* ; Polymorphism, Genetic ; Selection, Genetic* ; Silent Mutation

Synonymous sites are generally considered to be functionally neutral. However, there are recent contradictory findings suggesting that synonymous alleles might have functional roles in various molecular aspects. For instance, a recent study demonstrated that synonymous single nucleotide polymorphisms have a similar effect size as nonsynonymous single nucleotide polymorphisms in human disease association studies. Researchers have recognized synonymous codon usage bias (SCUB) in the genomes of almost all species and have investigated whether SCUB is due to random nucleotide compositional bias or to natural selection of any functional exposure generated by synonymous mutations. One of the most prominent observations on the non-neutrality of synonymous codons is the correlation between SCUB and levels of gene expression, such that highly expressed genes tend to have a higher preference toward so-called optimal codons than lowly expressed genes. In relation, it is known that amounts of cognate tRNAs that bind to optimal codons are significantly higher than the amounts of cognate tRNAs that bind to non-optimal codons in genomes. In the present paper, we review various functions that synonymous codons might have other than regulating expression levels.
Alleles ; Bias (Epidemiology) ; Codon* ; Gene Expression ; Genome ; Humans ; Polymorphism, Single Nucleotide ; RNA, Transfer ; Selection, Genetic ; Silent Mutation

OBJECTIVETo assess the impact of natural selection and genetic background on the polymorphisms of HLA-G 3-untranslated regions (UTR) among five ethnic Chinese populations.

METHODSPCR and DNA sequencing were used to determine the polymorphisms among 432 individuals from the five ethnic populations. Their genetic background was determined by genotyping of 10 short tandem repeats (STRs).

RESULTSEight variations were identified among Gelao, Mongolian and Kirgiz populations, while only 7 were found in Shui and Dai people. For all 3 southern populations (Gelao, Shui, and Dai), the observed heterozygosites (Ho) was higher than expected heterozygosities (He). But this was reversed for the 2 northern populations (Mongolian and Kirgiz). The Ho and He of the 10 neutral STRs were in random distribution. Ewens-Watterson testing based on haplotypes of the HLA-G 3'UTR has suggested that a natural selection had occurred in the region where Dai and Shui had inhabited, but not in the northern region where Mongolian and Kirgiz population inhabited. Polygenetic trees based on the HLA and STRs were also different.

CONCLUSIONThe HLA-G 3'UTR of Dai and Shui people who lived in southern China may have subjected to a selection pressure. Based on current knowledge, this pressure may have been driven by a pathogenic selection.

3' Untranslated Regions ; genetics ; China ; ethnology ; Female ; HLA-G Antigens ; genetics ; Humans ; Male ; Microsatellite Repeats ; Polymorphism, Genetic ; Selection, Genetic

In genetic association studies with high-dimensional genomic data, multiple group testing procedures are often required in order to identify disease/trait-related genes or genetic regions, where multiple genetic sites or variants are located within the same gene or genetic region. However, statistical testing procedures based on an individual test suffer from multiple testing issues such as the control of family-wise error rate and dependent tests. Moreover, detecting only a few of genes associated with a phenotype outcome among tens of thousands of genes is of main interest in genetic association studies. In this reason regularization procedures, where a phenotype outcome regresses on all genomic markers and then regression coefficients are estimated based on a penalized likelihood, have been considered as a good alternative approach to analysis of high-dimensional genomic data. But, selection performance of regularization procedures has been rarely compared with that of statistical group testing procedures. In this article, we performed extensive simulation studies where commonly used group testing procedures such as principal component analysis, Hotelling's T² test, and permutation test are compared with group lasso (least absolute selection and shrinkage operator) in terms of true positive selection. Also, we applied all methods considered in simulation studies to identify genes associated with ovarian cancer from over 20,000 genetic sites generated from Illumina Infinium HumanMethylation27K Beadchip. We found a big discrepancy of selected genes between multiple group testing procedures and group lasso.
Genetic Association Studies ; Genetic Testing ; Ovarian Neoplasms ; Phenotype ; Principal Component Analysis ; Selection, Genetic ; Transcutaneous Electric Nerve Stimulation

We investigated the genetic diversity and evolution of the M gene of human influenza A viruses in Hangzhou (Zhejiang province, China) from 2009 to 2013, including subtypes of A(H1N1) pdm09 strains and seasonal A(H3N2) strains. Subtypes of analyzed viruses were identified by cell culture and real-time reverse transcription-polymerase chain reaction, followed by cloning, sequencing and phylogenetic analyses of the M gene. Assessment of 5675 throat swabs revealed a positive rate for the influenza virus of 20.46%, and 827 cases were diagnosed as. infections due to influenza A viruses. Seventy-six influenza-A strains were selected randomly from nine stages during six phases of a virus epidemic. Sequences of the M gene showed high homology among six epidemics with identities of amino-acid sequences of 98.98-100%. All strains contained the adamantine-resistant mutation S31N in its M2 protein. Two of the A(H1N1)pdm09 strains had double mutants of V27A/S31N or V271/S31N. One of the seasonal A(H3N2) viruses had another form of double-mutant R45H/S31N. Evolutionary rate of the M gene was much lower than that of the HA gene and NA gene. Compared with A(H3N2) strains, higher positive pressure on the M1 and M2 proteins of A(H1N1) pdm09 viruses was observed. Separate analyses of M1 and M2 proteins revealed very different selection pressures. Knowledge of the genetic diversity and evolution of the M gene of human influenza-A viruses will be valuable for the control and prevention of diseases.
Amino Acid Substitution ; China ; epidemiology ; Evolution, Molecular ; Genetic Variation ; Humans ; Influenza A Virus, H1N1 Subtype ; classification ; genetics ; isolation & purification ; Influenza A Virus, H3N2 Subtype ; classification ; genetics ; isolation & purification ; Influenza, Human ; epidemiology ; virology ; Phylogeny ; Selection, Genetic ; Viral Matrix Proteins ; genetics ; Viral Proteins ; chemistry ; genetics

The association of Hashimoto's thyroiditis (HT) with papillary thyroid cancer (PTC) has been still under debate. Some suggest that these two are positively correlated, whereas other studies report no relationship. We performed a systematic literature review of original studies to investigate the correlation between HT and PTC. The existing data provide inconsistent evidence favoring a causal relationship between HT and PTC. The average prevalence rate of PTC in patients with HT was 1.2% in 8 fine needle aspiration (FNA) studies of 18,023 specimens and 27.6% in 8 archival thyroidectomy studies of 9884 specimens. The risk ratio of PTC in HT specimens ranged from 0.39 to 1.00 in the FNA group (average RR 0.69) in contrast to 1.15 to 4.16 from thyroidectomy studies (average RR 1.59). Population-based fine needle aspiration biopsy studies report no relationship, whereas many of the studies using thyroidectomy specimens report a positive relationship, possibly related to selection bias. Several studies identified a few biomolecular markers, including the PI3K/Akt pathway, RET/PTC gene rearrangements, p63 protein, and loss of heterozygosity of hOGG1, that are potentially involved in neoplastic transformation from HT to PTC. So far, no causal genetic linkage has been confirmed. PTC with concurrent HT is associated with female gender, young age, less aggressive disease such as small tumor size, less frequent capsular invasion and nodal metastasis, and better outcome. However, more prospective studies with long term follow-up are needed to further elucidate this relationship and prognosis. Careful observation and follow-up of HT patients is recommended, especially those with nodular variants.
Biopsy ; Biopsy, Fine-Needle ; Female ; Gene Rearrangement ; Genetic Linkage ; Humans ; Loss of Heterozygosity ; Neoplasm Metastasis ; Odds Ratio ; Prevalence ; Prognosis ; Selection Bias ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy ; Thyroiditis*