Genetic Markers of Human Evolution Are Enriched in Schizophrenia

Srinivasan, Saurabh; Bettella, Francesco; Mattingsdal, Morten; Wang, Yunpeng; Witoelar, Aree; Schork, Andrew J.; Thompson, Wesley K.; Zuber, Verena; Winsvold, Bendik S.; Zwart, John‐Anker; Collier, David A.; Desikan, Rahul S.; Melle, Ingrid; Werge, Thomas; Dale, Anders M.; Djurovic, Srdjan; Andreassen, Ole A.

doi:10.1016/j.biopsych.2015.10.009

Cited by 104 publications

(120 citation statements)

References 59 publications

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“…2, 2017; diverged from Neanderthals. Srinivasan et al (18) found that genomic regions tagged by negative NSS scores show enrichment of association with schizophrenia.…”

Section: Cc-by-nc-nd 40 International License Not Peer-reviewed) Is mentioning

confidence: 99%

“…We thus examined if these evolutionary DMRs are enriched for association with schizophrenia or other human traits. Using previously published methodologies (18,29,30) and publicly available GWAS datasets we systematically analyzed twelve diverse phenotypes to investigate the potential role of regions susceptible to epigenetic variation in the emergence of specific traits in the human lineage.…”

Section: Cc-by-nc-nd 40 International License Not Peer-reviewed) Is mentioning

confidence: 99%

“…Crow first argued that language and psychosis may have common origins, which could explain the persistence of schizophrenia in human populations (11,12). This evolutionary hypothesis can now be tested, thanks to the identification of genetic factors implicated in schizophrenia (13)(14)(15) and the availability of datasets that reflect recent genomic evolution in humans (16)(17)(18).…”

Section: Introductionmentioning

confidence: 99%

“…One approach to investigating the function of schizophrenia-associated variants is comparative genomics, which investigates the evolutionarily relevance of certain genomic regions (19). This field has introduced new datasets to test disease origins in humans, including Human Accelerated Regions (HARs) and Neanderthal Selective Sweep (NSS) scores (17,18). HARs are genomic regions that are highly conserved in non-human species, but have undergone rapid sequence change in the human lineage (19)(20)(21)(22)(23).…”

Section: Introductionmentioning

confidence: 99%

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Recently evolved human-specific methylated regions are enriched in schizophrenia signals

Banerjee

Polushina

Bettella

et al. 2017

Preprint

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“…2, 2017; diverged from Neanderthals. Srinivasan et al (18) found that genomic regions tagged by negative NSS scores show enrichment of association with schizophrenia.…”

Section: Cc-by-nc-nd 40 International License Not Peer-reviewed) Is mentioning

confidence: 99%

Section: Cc-by-nc-nd 40 International License Not Peer-reviewed) Is mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Recently evolved human-specific methylated regions are enriched in schizophrenia signals

Banerjee

Polushina

Bettella

et al. 2017

Preprint

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“…Not found in Neanderthals were genes associated with mental activity and energy exchange, having adaptive character, [14] and genes associated with the development of schizophrenia and bipolar disorder, [15] as well as a reduced number of genes on the site responsible for the development of speech. [16] Genes that have been found in CroMagnons and are absent in Neanderthals and chimpanzees emerged during evolutionary bifurcation (or became the cause of it).…”

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confidence: 99%

Creativity as a Determinant of the Development of Homo Sapiens

Kruglov¹

2016

Int J Biomed

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This work was undertaken to determine the genesis and role of creativity (Cr) in the formation of mental qualities that gave Homo sapiens (HS) the evolutionary advantages in intra-and interspecific competition during the period of the intraspecific bifurcation of hominids on the border of the Middle and Upper Paleolithic. Creativity allowed HS to design the adaptive forms of purposeful behavior corresponding to the conditions and the degree of uncertainty, and create stable mental constructs, in the absence of perceptual sources, that do not require reactive behavior. Visualization of a target image, which originally had an applied and instructional value in the process of semantic filling, was transformed into a symbol, which, getting the qualities of the perceptual source, loses its connection to the primary value and initiates the creation of qualitatively new needs for hominids: bilateral (direct and inverse) relations in the system "subject-symbol." The ability to produce the prognostic hypothesis with expansion of the operating range of the HS mind allowed the ability to search and change the tactics of an adaptive behavior, which gave the results: improvements in quality of life and an increase in life expectancy (genetically fixed); domination in intraand interspecific competition; the emergence of new operating systems of the psyche, including the emergence and development of symbolic thought. As a criterion of creativity, with the potential ability for quantitative measurement, we propose the value of deviation of creative oscillations ("proposal" of a creative individual) from the boundaries between stereotypes: for the cognition sphere, a deviation from the border between recognizable and unrecognizable; for the social sphere, between acceptable and unacceptable. (Int J Biomed. 2016; 6(4):298-302.)

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Genetic Basis of Disease

Jackson¹,

Marks²

2019

Encyclopedia of Life Sciences

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Differences between our individual genomes not only make us appear different from each other; these differences also play a key role in determining disease susceptibility. The effect of a single alteration in the DNA sequence may range from a certainty of severe disease to a slight predisposition that may become manifest in the presence of other genetic or environmental influences. The vast array of mechanisms by which genetic changes can lead to disease reflects the overall complexity of the underlying biological processes and the variety of ways in which these can be disrupted. Key Concepts Genetic disease can be due to a variety of different types of alteration in the human genome: extra or missing chromosomes, large chromosomal rearrangements, smaller deletions, insertions or substitutions of one or more nucleotides and even changes affecting the ability of genes to be switched on (epigenetics). Genetic variation is a normal characteristic of the human genome, and the effects of genetic variants range across a whole spectrum of substantial effect (complete loss of function or significant gain of function) to relatively minor or even zero effect on function. Genetic variants that are associated with disease are termed pathogenic, whilst variants that appear to have no significant effect upon health are termed benign. Recessive genetic disorders are a consequence of loss of function in both gene copies (i.e. both the maternally inherited and paternally inherited copies). Dominant genetic disorders are caused by either gain of function in one gene copy (either maternally or paternally inherited), or by loss of function in one gene copy in cases where the amount of gene product from a single gene copy is insufficient. Some genetic disorders are a consequence of alterations affecting the mitochondrial DNA. Although we inherit most of our genetic variants from our parents, we each have a number of de novo genetic changes, which may occasionally be associated with disease; some DNA sequences in our genome (e.g. triplet repeats) are particularly prone to new mutations. Cancer is a disease that is associated with the accumulation of multiple genetic changes that generally occur over the lifetime of the individual. Variants present in our genome make a contribution to virtually all human disease, sometimes as a consequence of cumulative effects of many variants across the genome which have small individual effects.

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Genetic Markers of Human Evolution Are Enriched in Schizophrenia

Cited by 104 publications

References 59 publications

Recently evolved human-specific methylated regions are enriched in schizophrenia signals

Recently evolved human-specific methylated regions are enriched in schizophrenia signals

Creativity as a Determinant of the Development of Homo Sapiens

Genetic Basis of Disease

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