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Related Concept Videos

Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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Genetic Variation01:25

Genetic Variation

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.
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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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.
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Human genetic variation recognizes functional elements in noncoding sequence.

David Lomelin1, Eric Jorgenson, Neil Risch

  • 1Institute for Human Genetics, University of California, San Francisco, San Francisco, California 94143, USA. dlomelin@alumni.ucsf.edu

Genome Research
|December 25, 2009
PubMed
Summary
This summary is machine-generated.

Genetic variation studies reveal functional elements within noncoding DNA. Reduced variation highlights key sites for gene regulation and RNA splicing, including intronic splicing enhancers.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Noncoding DNA, especially intronic DNA, contains crucial functional elements influencing gene expression and RNA splicing.
  • Identifying specific functional sites within noncoding DNA remains a challenge.

Purpose of the Study:

  • To identify functional elements within noncoding DNA by analyzing genetic variation patterns.
  • To investigate the role of genetic variation in understanding gene regulation and RNA splicing.

Main Methods:

  • Characterized genetic variation in introns using diverse human polymorphism data from PMT, NIEHS, and SeattleSNPs databases.
  • Applied bioinformatics approaches to analyze patterns of genetic variation within intronic regions.

Main Results:

  • Observed reduced genetic variation at known functional elements involved in pre-mRNA splicing, such as branch sites, splice sites, and polypyrimidine tracts.
  • Identified novel regions of reduced variation potentially representing intronic splicing enhancers (ISEs).

Conclusions:

  • Genetic variation studies are effective in identifying functional elements within noncoding DNA.
  • The findings provide a framework for discovering additional functional elements in the human genome and linking them to phenotypic variations.