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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Genetic Variation01:25

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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.
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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.
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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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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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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
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Human perforin gene variation is geographically distributed.

Robin C Willenbring1,2, Yasuhiro Ikeda3, Larry R Pease2

  • 1Mayo Clinic Graduate School of Biomedical Sciences, College of Medicine, Mayo Clinic, Rochester, MN, USA.

Molecular Genetics & Genomic Medicine
|December 8, 2017
PubMed
Summary
This summary is machine-generated.

Genetic variations in the PRF1 gene, which codes for perforin, are linked to various diseases. This study identifies numerous PRF1 mutations, suggesting a role in population-specific adaptations and disease resistance.

Keywords:
familial hemophagocytic lymphohistiocytosis type 2human geneticspathogenperforin

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Area of Science:

  • Human genetics
  • Immunology
  • Population genetics

Background:

  • Deleterious mutations in the PRF1 gene cause familial hemophagocytic lymphohistiocytosis type 2 (FHL 2), a severe childhood disease.
  • Non-deleterious PRF1 mutations are implicated in other disorders like lymphomas and diabetes, but many remain unassociated with disease.
  • The full spectrum of PRF1 variation and its clinical relevance is not yet fully understood.

Purpose of the Study:

  • To comprehensively catalog and analyze PRF1 mutations in the human population.
  • To understand the variation patterns and population-specific distribution of PRF1 mutations.
  • To explore potential adaptive roles of non-deleterious PRF1 variants.

Main Methods:

  • Post hoc analysis of PRF1 coding region mutations.
  • Utilized data from Exome Aggregation Consortium genomes, Leiden Open Variation Database, NCBI SNP database, and primary literature.
  • Investigated geographic distribution and allelic frequency of PRF1 single nucleotide variants (SNVs).

Main Results:

  • Cataloged 460 PRF1 mutations, revealing greater genetic diversity than previously known.
  • Identified specific PRF1 mutations with high allelic frequencies in certain populations.
  • Demonstrated a geographic distribution pattern for PRF1 single nucleotide variants (SNVs).

Conclusions:

  • Proposes a hypothesis that non-deleterious PRF1 mutations conferring decreased perforin activity may offer a selective advantage in equatorial regions.
  • Suggests perforin deficiency might provide protection against injuries causing blood-brain barrier (BBB) disruption.
  • Highlights the complex role of PRF1 variation beyond severe genetic disorders.