Cognitive genomics
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Cognitive genomics (or neurative genomics) is the sub-field of
Cognitive genomics testing
Approaches
Evo-geno
The most commonly used approach to genome-investigation is evolutionary genomics biology, or evo-geno, in which the genomes of two species which share a common ancestor are compared.
Evo-devo
Evolutionary development biology (evo-devo) approach compares cognitive and neuroanatomic development patterns between sets of species. Studies of human
Evo-pheno and evo-patho
Evolutionary phenotype biology (evo-pheno) approach examines phenotype expression between species. Evolutionary pathology biology (evo-patho) approach investigates disease prevalence between species.
Imaging genomics
Candidate gene selection
In genomics, a gene being imaged and analyzed is referred to as a candidate gene. The ideal candidate genes for comparative genomic testing are genes that harbor well-defined functional polymorphisms with known effects on neuroanatomical and/or cognitive function.[2] However, genes with either identified single-nucleotide polymorphisms or allele variations with potential functional implications on neuroanatomical systems suffice.[2] The weaker the connection between the gene and the phenotype, the more difficult it is to establish causality through testing.[2]
Controlling for non-genetic factors
Non-genetic factors such as age, illness, injury, or substance abuse can have significant effects on gene expression and phenotypic variance.[2] The identification and contribution of genetic variation to specific phenotypes can only be performed when other potential contributing factors can be matched across genotype groups.[2] In the case of neuroimaging during task performance such as in fMRI, groups are matched by performance level. Non-genetic factors have a particularly large potential effect on cognitive development. In the case of autism, non-genetic factors account for 62% of disease risk.[6]
Task selection
In order to study the connection between a candidate gene and a proposed phenotype, a subject is often given a task to perform that elicits the behavioral phenotype while undergoing some form of neuroimaging. Many behavioral tasks used for genomic studies are modified versions of classic behavioral and neuropsychological tests designed to investigate neural systems critical to particular behaviors.[2]
Species used in comparative cognitive genomics
Humans
In 2003, the
Non-human primates
As the closest genetic relatives to humans,
Chimpanzees
Currently, human and chimpanzees have the only sequenced genomes in the extended family of primates.[12] Some comparisons of autosomal intergenic non-repetitive DNA segments suggest as little as 1.24% genetic difference between humans and chimpanzees along certain sections.[13] Despite the genetic similarity, 80% of proteins between the two species are different which understates the clear phenotypical differences.[14]
Rhesus macaques
Rhesus macaques (Macaca mulatta) exhibit a 93% genetic similarity to humans approximately.[15] They are often used as an out-group in human/chimpanzee genomic studies.[8] Humans and rhesus macaques shared a common ancestor an estimated 25 million years ago.[5]
Apes
Neurobehavioral and cognitive disorders
Despite what is sometimes reported, most behavioral or pathological phenotypes are not due to a single
Down syndrome
Down syndrome is a genetic syndrome marked by
Fragile-X syndrome
Alzheimer's disease
Alzheimer's disease is a neurodegenerative disorder that causes age-correlated progressive cognitive decline.
Autism
Autism is a pervasive developmental disorder characterized by abnormal social development, inability to empathize and effectively communicate, and restricted patterns of interest.[17] A possible neuroanatomical cause is the presence of tubers in the temporal lobe.[17] As mentioned previously, non-genetic factors account for 62% of autism development risk.[6] Autism is a human-specific disorder. As such, the genetic cause has been implicated to highly ordered brain lateralization exhibited by humans.[4] Two genes have been linked to autism and autism spectrum disorders (ASD): c3orf58 (a.k.a. Deleted In Autism-1 or DIA1) and cXorf36 (a.k.a.Deleted in Autism-1 Related or DIA1R).[19]
Major depressive disorder
Major depressive disorder is a common mood disorder believed to be caused by irregular neural uptake of serotonin. While the genetic cause is unknown, genomic studies of post-mortem MDD brains have discovered abnormalities in the fibroblast growth factor system which supports the theory of growth factors playing an important role in mood disorders.[20]
Others
Other neurodegenerative disorders include
See also
- Genomics
- Neurogenetics
- Comparative genomics
- Genetics
- Evolutionary biology
- Molecular biology
- Cognitive psychology
- Behavioral psychology
- Neuroanatomy
References
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- ^ PMID 12697630.
- S2CID 5734393. Archived from the original(PDF) on 2020-07-26.
- ^ PMID 20955931.
- ^ PMID 14557539.
- ^ a b Digitale, Erin (4 July 2011). "Non-genetic factors play surprisingly large role in determining autism, says study by group". Stanford School of Medicine, Stanford University.
- ^ "Human Genome Project FAQ". National Human Genome Research Institute.
- ^ a b c d e Interview with Todd Preuss, PhD, Yerkes National Primate Research Center[unreliable source?]
- S2CID 827480.
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- ^ "DNA sequence of Rhesus macaque has evolutionary, medical implications" (Press release). Baylor College of Medicine. 12 April 2007.
- ^ S2CID 83900633.
- ^ ISBN 978-1-59259-353-8.)
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: CS1 maint: DOI inactive as of January 2024 (link - S2CID 15860658.
- PMID 21283809.
- PMID 15833130.