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Related Concept Videos

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.
Genes exist in different versions called alleles, which...
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).Mechanisms of Genetic VariationThe original sources of genetic variation are mutations,...
Incomplete Dominance01:43

Incomplete Dominance

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.
What is Population Genetics?01:25

What is Population Genetics?

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.While some alleles of a given gene might be observed commonly, other variants...
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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Genetic Drift03:33

Genetic Drift

Natural selection—probably the most well-known evolutionary mechanism—increases the prevalence of traits that enhance survival and reproduction. However, evolution does not merely propagate favorable traits, nor does it always benefit populations.Life is not fair. A deer grazing contentedly in a field can have her meal cut tragically short by a bolt of lightning. If the doomed doe is one of only three in the population, 1/3 of the population’s gene pool is lost. Random events like this can...

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Targeted in Situ Mutagenesis of Histone Genes in Budding Yeast
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Targeted in Situ Mutagenesis of Histone Genes in Budding Yeast

Published on: January 26, 2017

Genetic variability at the PARK16 locus.

Arianna Tucci1, Mike A Nalls, Henry Houlden

  • 1Department of Molecular Neuroscience and Reta Lila Weston Institute, UCL Institute of Neurology, London, UK.

European Journal of Human Genetics : EJHG
|August 5, 2010
PubMed
Summary
This summary is machine-generated.

Researchers investigated the PARK16 genetic locus for mutations linked to Parkinson's disease (PD). A novel mutation in the RAB7L1 gene was associated with PD risk, suggesting further investigation into PARK16's role in neurodegeneration.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Parkinson's disease (PD) is a neurodegenerative disorder characterized by dopaminergic neuron loss and Lewy bodies.
  • While most PD cases are idiopathic, genetic factors are increasingly recognized, with several mendelian genes identified.
  • Genome-wide association studies (GWAS) have confirmed SNCA and MAPT as PD susceptibility loci and suggested others, including the novel PARK16 locus.

Purpose of the Study:

  • To investigate the novel PARK16 locus for coding mutations in idiopathic Parkinson's disease.
  • To conduct an association study within the PARK16 locus in a UK case-control cohort.
  • To identify genetic variants within PARK16 associated with Parkinson's disease risk.

Main Methods:

  • Screening of a large series of idiopathic Parkinson's disease cases for coding mutations within the PARK16 locus.
  • Association study using a case-control cohort from the United Kingdom.
  • Identification and characterization of novel coding variants in RAB7L1 and SLC41A1 genes.

Main Results:

  • An association was identified between a novel RAB7L1 mutation (c.379-12insT) and Parkinson's disease (P-value=0.0325).
  • Two novel coding variants, RAB7L1 (p.K157R) and SLC41A1 (p.A350V), were found exclusively in the Parkinson's disease cohort.
  • No copy number variation analyses have been performed within the PARK16 locus to date.

Conclusions:

  • The study identified a potential association between a RAB7L1 mutation and Parkinson's disease.
  • Coding variants and risk alleles within the PARK16 locus appear to be rare.
  • Further molecular analyses within the PARK16 locus across diverse populations are necessary to elucidate its biochemical role in Parkinson's disease pathogenesis.