Genome evolution and comparative genomics

10 important questions on Genome evolution and comparative genomics

What is comparative genomics and the importants?

Systematic comparison of genomic sequences and features of different species.
important for:
  • identification genomic fetaures
  • understanding function of genomic features
  • prediction effectpathogenicity mutations 

What is the C value paradox?

Inconsistent relationship between complexity of the organism and the amount of DNA

What is the G value paradox?

Inconsistent relationship between cemplexity of the organism and the number of genes
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How many novel coding changes occur from one human generation to the next (parents vs child)? And what for types of changes?

60 changes
  • point mutations
  • indels
  • structural variations
    • transposon activity
    • deletions
    • duplications
      • exon
      • gene
      • segmental
      • whole-genome
  • aneuploidies (more chromosomes)

What leads to gene evolution? And what are orthologs and paralogs?

  • Gene duplication
  • paralogs = genes in the same species created though gene duplication
  • orthologs = genes found in two species that had a common ancestor

What is functional redundancy (functionele redundantie)?

  • Biological/biochemical function is encoded by two or more genes/genetic elements. Each of the genes/elements can replace the function of the other gene/element. There is less evolutionary selection acting on genes with redundant function. Gene duplication is a major process of creating functional redundancy
  • which can be functionally redundant:
    • ortholog
    • paralog

How are conserved regions called?

Phylogenetic footprint

Synteny (gene order)?

Synteny: genes that are in the same relative position on two different chromosomes
  • genetic and physical maps compared between species or in same species.
  • closely related species generally have similar oder of genes on chromosomes
  • synteny can be used to identify genes in one species based on map position in another

How is divergence time correlated with sensitivity and specificity?

Divergence time: the time at which two species became biologically distinct from one another.

how more divergence time there has past, how more specificity through the two species.

Comparative genomics is of major importance to? (3)

  1. Assign function to genome sequences
  2. identify novel important elements
  3. prioritize candidate mutations in human disease genetics: example synonymous and non-synonympus SNP density across exonic sequences

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