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Related Concept Videos

Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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What is Variation?01:14

What is Variation?

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Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
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Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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What is Population Genetics?01:25

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Variation01:19

Variation

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An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
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Variation of Atmospheric Pressure01:18

Variation of Atmospheric Pressure

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Change in atmospheric pressure with height is particularly interesting. The decrease in atmospheric pressure with increasing altitude is due to the decreasing gravitational force per unit area as we move away from the surface of the earth.
Assuming the air temperature is constant at a given altitude and that the ideal gas law of thermodynamics describes the atmosphere to a good approximation, one can find the variation of atmospheric pressure with height.
Let p(y) be the atmospheric pressure at...
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Related Experiment Video

Updated: Feb 13, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic variations on SETD5 underlying autistic conditions.

Isabella R Fernandes1, Ana C P Cruz2, Adriano Ferrasa2,3

  • 1Department of Pediatrics/Rady Children's Hospital San Diego, Department of Cellular & Molecular Medicine, Stem Cell Program, University of California San Diego, School of Medicine, La Jolla, California, 92037-0695.

Developmental Neurobiology
|February 28, 2018
PubMed
Summary
This summary is machine-generated.

Mutations in the SETD5 gene are linked to autism spectrum disorder (ASD) and intellectual disability (ID), particularly in males. SETD5 gene variations may cause a new syndromic condition associated with 3p25 syndrome.

Keywords:
SETD5 geneSETD5 syndromeautism spectrum disordergenetic variantsintellectual disabilitysyndromic autism

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Epigenetics

Background:

  • Autism spectrum disorders (ASD) prevalence and identified ASD-related genes are increasing.
  • The SETD5 gene encodes a protein involved in chromatin modification, crucial for brain development.
  • Genetic evidence links SETD5 gene malfunction to ASD, intellectual disability (ID), and facial dysmorphism.

Purpose of the Study:

  • To map clinical phenotypes of individuals with SETD5 gene mutations associated with ASD and chromatinopathies.
  • To analyze the relationship between SETD5 mutations and neurodevelopmental disorders.
  • To investigate the molecular mechanisms underlying SETD5-related phenotypes.

Main Methods:

  • Systematic literature review.
  • Analysis of public disease-related databanks.
  • Clinical phenotype mapping and molecular interaction analysis.

Main Results:

  • Identified 42 individuals with SETD5 gene mutations; 23.8% exhibited autistic-like features.
  • Most mutations are located on chromosome 3 (3p25.3) at the SETD5 gene locus.
  • SETD5 mutations show high penetrance in males, with variable phenotypes in females; molecularly, SETD5 interacts with chromatin-modifying complexes.

Conclusions:

  • SETD5 gene mutations are associated with ASD, ID, and facial dysmorphism.
  • Mutations may lead to a novel syndromic condition in males, linked to 3p25 syndrome.
  • SETD5's role in chromatin modification highlights its importance in brain development and neurodevelopmental disorders.