Book summary - molecular pathology: connecting phenotypes to genotypes
3 important questions on Book summary - molecular pathology: connecting phenotypes to genotypes
Two questions in the molecular pathology?
- What a variant does in a gene product
- Which one leads to a gain of function or a loss of function
- What it does to the person.
Variety mechanisms that cause a gain of function?
Cancer feature a variety of overactive growth-promoting genes (oncogenes) --> gain of function
A gene product can gain function through a variety of mechanisms:
A gene product can gain function through a variety of mechanisms:
- Making extra copies of an active gene so as to produce a quantitative increase in the amount of product (gene amplification)
- Chromosomal rearrangements that place an oncogene under the influence of a powerful enhancer, so as to increase the level of expression
- Chromosomal rearrangements that create novel, highly active chimeric genes by combining exons of wo separate genes.
- Missense changes that alter the properties of a protein
Compensated pathogenic deviation?
a sequence variants that are pathogenic in humans but neutral in other species.
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