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6 - Genome Diversity

Diversity of Eukaryotic Genomes and Applications of Genome Sequencing


Page 1: Overview

  • Introduction to diversity in eukaryotic genomes.

  • Discussion on the applications of genome sequencing in various fields.


Page 2: Genome, Genes, and Alleles

  • Genome: Complete set of genetic information in an organism's DNA.

    • Includes all genes and non-coding regions.

  • Genes: Sequences of nucleotides coding for proteins or RNA.

    • Found at specific loci on chromosomes.

  • Alleles: Variations of a gene producing slightly different gene products.

    • May perform similar functions despite variations in sequence.


Page 3: Understanding Chromosomes

  • Chromosomes structure and function:

    • Hold specific genes that code for amino acids, thus proteins.

    • Unique due to the specific order of genes contained in each.

    • Locus: Specific location on a chromosome where a gene is found.

  • Diploid (2n) somatic cells:

    • Contain homologous chromosomes, one from each parent.

    • Homologous chromosomes share the same genes in the same order but can differ by alleles.


Page 4: Diversity of Eukaryotic Genomes

  • All current organisms likely derived from a universal common ancestor (LUCA).

  • Evolutionary tree branched since LUCA:

    • Variation in alleles and genomes attributed to natural selection.

  • Key points about variation:

    • Greater variation exists between species than within species.

    • Genetic complexity does not directly correlate with genome size.

  • Example task:

    • Compare genome sizes from NCBI Genome Database across different species (e.g., complex animals vs. plants vs. bacteria).


Page 5: Variations in Genome Size

  • Genome size does not correlate with organism complexity.

    • Larger genomes have more base pairs & potentially more functional genes.

  • Example data:

    • Humans: 6.2 Gb genome (only 1-2% codes for proteins).

    • Banana genomes: 1.3-1.5 Gb.

  • Non-coding regions & "junk" DNA:

    • Non-coding regions serve regulatory functions, many are repetitive.


Page 6: Single Nucleotide Polymorphisms (SNPs)

  • SNPs: Single nucleotide changes at a specific locus causing variation.

    • Often found in non-coding regions of DNA.

    • Less than 1% nucleotide variation among humans.

  • Distinctions between SNPs and mutations:

    • Mutations: Substitutions, deletions, insertions, translocations, etc.

    • SNPs: Only involve single nucleotide replacements.


Page 7: DNA Barcoding and Environmental DNA

  • DNA barcoding: Short DNA segment used to identify species or groups of organisms.

    • Typically derived from a single gene, sometimes multiple.

  • Uses of environmental DNA:

    • Analyzing samples to track organism types in environments.

    • Identifying pathogenic contaminants in wastewater, indicating disease outbreaks.

    • Assessing ecosystem health through terrestrial ecosystem samples, looking for elusive or extinct species.


Page 8: Whole Genome Sequencing

  • Historical context of genome sequencing since the 1990s.

    • Mapping genomes from unicellular prokaryotes to complex multicellular eukaryotes.

  • Early genome sequencing efforts:

    • Costly and time-intensive, improved with technological advancements.

  • Current trends:

    • Accessibility and affordability of genomic sequencing for the general public.

    • New possibilities in medical research regarding genetic health and ancestry.

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