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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Gene Evolution - Fast or Slow?02:05

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Frequency-dependent Selection01:21

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When the fitness of a trait is influenced by how common it is (i.e., its frequency) relative to different traits within a population, this is referred to as frequency-dependent selection. Frequency-dependent selection may occur between species or within a single species. This type of selection can either be positive—with more common phenotypes having higher fitness—or negative, with rarer phenotypes conferring increased fitness.
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Related Experiment Video

Updated: Oct 11, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Association of low-frequency and rare coding variants with information processing speed.

Jan Bressler1, Gail Davies2,3, Albert V Smith4

  • 1Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA. jan.bressler@uth.tmc.edu.

Translational Psychiatry
|December 5, 2021
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Summary

Genetic variants in RNF19A are linked to information processing speed, measured by the Digit-Symbol Substitution Test (DSST). This finding in older adults suggests a genetic component influencing cognitive function and aging.

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Area of Science:

  • Genetics
  • Neuroscience
  • Gerontology

Background:

  • Information processing speed varies and declines with age.
  • Heritability estimates for cognitive traits suggest a significant genetic influence.
  • The Digit-Symbol Substitution Test (DSST) is a common measure of processing speed.

Purpose of the Study:

  • To investigate the association between rare coding genetic variants and DSST performance.
  • To identify specific genes influencing cognitive processing speed in aging populations.

Main Methods:

  • Utilized the Illumina HumanExome Bead Chip genotyping array.
  • Analyzed data from 30,576 European and 5,758 African ancestry adults (>45 years) from the CHARGE Consortium.
  • Employed linear regression and gene-based burden tests (T5, T1, T01), with meta-analyses by ancestry.

Main Results:

  • Rare variants in RNF19A showed a statistically significant association with DSST scores in European descent individuals (p=2.01×10⁻⁶) using the T01 burden test.
  • Suggestive associations were found for variants in SLC22A7 (African ancestry) and OR51A7 (European ancestry) after adjusting for education.
  • RNF19A encodes an E3 ubiquitin ligase involved in protein degradation.

Conclusions:

  • Genetic variants in RNF19A are associated with cognitive processing speed.
  • RNF19A may play a role in cognitive function, warranting further functional studies.
  • Other genes like SLC22A7 and OR51A7 may also influence processing speed.