Book summary - human genetic variation and comparative genomics
6 important questions on Book summary - human genetic variation and comparative genomics
3 reasons why most human mutations are neutral, having no effect on the phenotype?
- Functionally important DNA sequences account for a quite small percentage of our genome.
- genetic redundancy (redundantie)
- functionally unimportant animo acid or nucleotide positions within proteins or within functionally important noncoding sequences
Purifying selection/negative selection?
- Transmission of harmful DNA variant to future generations is reduced because the reproductive success of at least some individuals with that variant is reduced.
- Natural selection operating on the phenotype to affect genetic variation.
- Maintains the function of alle functionally sequences.
- Sequences conserved by negative selection are detected to be comparatively highly conserved in evolution
- Nonsynonymous mutations are not tolerated
Positive selection/Darwinian selection?
- The people with the DNA variant have increased survival and reproductive success compared with other individuals in a population.
- Transmissions to offsprings will be more so increase frequency over many generations and spread to the population.
- Advantageous mutations that are beneficial arise not easily.
- Standing variation: pre-existing variation.
- Positive selection on standing variations are difficult.
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Identifying functionally important DNA sequences that have been conserved by purifying (negative) selection: (5)
- Highly conserved DNA sequences are presumed to be functional important and to have been maintained by negative selection that selects against alleles with deletion changes at functional important nucleotide positions.
- Conserved DNA sequences are often the same in species.
- Comparisons of three of more aligned sequences of different genomes off different organisms can reveal regions that probably show sequence conservation as a result of negative selection.
- Very highly conserved sequences can be identified when the compared sequences are form distant related organisms.
- Medium conserved sequences you need to compare sequences form less distant related organisms.
Functions of duplicated genes?
- Increased gene expression
- pseudogenization
- neofunctionalization
- subfunctionalization
Two classes of artificial human pluripotent stem cell lines:
- induced pluripotent stem cells (iPSCs)
- embryonic stem cells (ESCs)
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