An Introduction to the Human Genome | HMX Genetics

00:05:36
https://www.youtube.com/watch?v=jEJp7B6u_dY

Sintesi

TLDRThe video discusses the genetic similarities and differences among humans, emphasizing that while we are 99.9% genetically identical, the 0.1% variation accounts for significant diversity. It explains the structure of DNA, the role of genes in determining traits and health, and introduces concepts like single nucleotide variants (SNVs) and single nucleotide polymorphisms (SNPs). The video highlights the importance of understanding genetics in relation to health and disease, suggesting that genetic knowledge can enhance medical care and inform individuals about their health risks.

Punti di forza

  • 🧬 Humans share 99.9% of their DNA.
  • 🔍 The 0.1% variation accounts for about 3 million differences.
  • 🧬 DNA is structured as a double helix with nucleotides.
  • 🧬 Genes determine traits like eye color and health risks.
  • 📊 There are approximately 20,000 genes in the human genome.
  • 🧬 Single nucleotide variants (SNVs) affect individual traits.
  • 📈 SNPs are common genetic variations in populations.
  • 🧬 Understanding genetics can improve medical care.
  • 🧬 Humans have 46 chromosomes, 23 from each parent.
  • 🔬 Genetic variation influences disease risk.

Linea temporale

  • 00:00:00 - 00:05:36

    The video discusses the balance between human genetic similarity and diversity, highlighting that while humans are 99.9% genetically identical, the 0.1% variation accounts for significant differences in traits and health. It explains the structure of DNA, including nucleotides and their pairing, and how DNA is organized into chromosomes. The video emphasizes the role of genetic variation, particularly single nucleotide variants (SNVs) and single nucleotide polymorphisms (SNPs), in contributing to human diversity and raises questions about the implications of genetics for health and disease.

Mappa mentale

Video Domande e Risposte

  • What percentage of human DNA is identical across individuals?

    Humans are 99.9% genetically identical.

  • What are single nucleotide variants (SNVs)?

    SNVs are differences in DNA sequence that affect a single position.

  • What are single nucleotide polymorphisms (SNPs)?

    SNPs are common SNVs that occur in more than 1% of a population.

  • How many genes are estimated to be in the human genome?

    There are approximately 20,000 genes in the human genome.

  • What is the total length of DNA in a human cell?

    All the DNA in a cell would be about 2 meters in length if stretched out.

  • What role do genes play in human traits?

    Genes determine traits such as appearance, health, and risk of diseases.

  • How does DNA affect health?

    Variations in DNA can influence the likelihood of developing certain health conditions.

  • What is the significance of understanding genetics?

    Understanding genetics can improve medical care and inform about disease risks.

  • What is the structure of DNA?

    DNA is composed of a sugar-phosphate backbone and nitrogenous bases (A, T, G, C).

  • How many chromosomes do humans have?

    Humans have 46 chromosomes, with 23 inherited from each parent.

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Sottotitoli
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Scorrimento automatico:
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    [Music]
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    humans around the world have much in
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    common but also enormous
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    diversity some of the differences
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    between each of us come from our
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    environment and life experiences but our
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    DNA plays an important role in
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    determining our appearance our traits
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    and our
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    health there are thousands of genes in
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    the human
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    genome sequence changes in individual
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    genes can determine if we have
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    freckles can just
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    lactose have wet or dry ear
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    wax a red green color
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    blind or are likely to have blue
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    eyes or think broccoli tastes
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    bter individual genes can also determine
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    if we will develop CLE cell anemia
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    cystic
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    fibrosis or Huntington's disease
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    multiple genes act together with our
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    environment to determine our hair and
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    skin color our height our weight our
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    blood pressure and our risk of
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    developing type 2 diabetes depression
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    cancer some autoimmune disorders and
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    many other
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    conditions in spite of all these
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    potential differences humans are
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    99.9% genetically identical how is it
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    possible that we are all so similar and
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    yet so different let's zoom in to the
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    smallest genetic unit a single
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    nucleotide of deoxy ribonucleic acid or
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    DNA a DNA nucleotide is composed of
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    sugar and phosphate groups and one of
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    four nitrogenous
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    bases adenine thymine guanine and
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    cytosine annotated in shorthand as a t g
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    and
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    C the sugar and phosphate groups form
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    the DNA structural backbone allowing
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    nucleotides to concatenate into a long
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    single strand of DNA while the bases
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    determine DNA
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    sequence the chemical properties of DNA
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    allow bonds to form between the bases in
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    order to create a double strand with two
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    hydrogen bonds pairing a and t and three
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    pairing C and
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    G though different types of human cells
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    can be very different in appearance and
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    function they contain the same genome
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    which consists of about three gigabases
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    or 3 billion base pairs of
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    DNA all the DNA in the cell would be
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    about 2 m in length if it were stretched
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    out and must be condensed down to fit
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    into cells as small as 10 microm
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    across the DNA is first coiled into its
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    canonical Helix
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    structure and then wrapped around hisone
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    proteins to form a DNA protein structure
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    called a nucleosome these nues can be
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    further wound and coiled together to
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    create a compact structure that fits
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    into the
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    nucleus during cell division the DNA is
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    organized into tightly wound chromosomes
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    46 in total with 23 coming from each
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    parent these chromosomes can be easily
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    and accurately separated during cell
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    division guaranteeing that each new cell
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    contains an exact copy of
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    DNA outside of cell division the DNA is
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    decondensed in the nucleus allowing
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    greater
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    accessibility the transcriptional
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    Machinery regulates expression of the
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    approximately 20,000 genes which
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    although they correspond to less than 2%
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    of all genomic DNA encode all the
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    proteins necessary to build and run a
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    human
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    cell so to return to the original
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    question how is it possible for all of
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    human diversity to exist when we are
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    99.9% genetically similar
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    it is important to remember that the
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    0.1% of DNA that varies on average
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    between each of us actually corresponds
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    to about 3 million differences across
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    the genome with 20,000 of them on
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    average falling into protein coating
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    genes although that equals approximately
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    one difference per Gene in reality these
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    differences are not evenly distributed
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    across the coding
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    regions differences in DNA sequence are
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    called variant and those affecting a
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    single position are called single
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    nucleotide variants or
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    snvs common SVS that occur in more than
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    1% of a population are called single
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    nucleotide
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    polymorphisms or
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    Snips Snips along with larger scale
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    sequence changes like
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    deletions
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    duplications and
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    rearrangements create all the richness
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    of human genetic diversity at the
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    population
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    level this raises many questions on an
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    individual level as well how does DNA
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    determine our traits how can we
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    understand what a gene does and how
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    variance in that Gene might affect our
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    lives what can our DNA tell us about our
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    risk and our loved On's risk of
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    disease how can information from our
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    genomes improve our Medical
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    Care understanding genetics allows us to
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    apply the concepts of heritability and
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    genetic variation to questions of human
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    health and disease in our world today
Tag
  • genetics
  • DNA
  • human diversity
  • genome
  • traits
  • health
  • single nucleotide variants
  • SNPs
  • medical care
  • genetic variation