Submitted by JannickL t3_yze3qb in askscience
BluestOblivion t1_ix0u775 wrote
The simplest explanation usually for how alleles are either recessive or dominant is based on whether the protein they express has a higher than average function (gain of function) or lower than average function (loss of function).
Think about it through the lens of genetic disease. Oftentimes dominant genes are gain of function mutations. In Huntington’s disease, patients express a version of the protein huntingtin that is toxic to neurons and causes the condition. If you have two copies of alleles for huntingtin, but only one of them makes a toxic protein, you’d still have the toxic effect even though it represents only half of the expressed protein. That’s because this toxic effect is a “gain of function.” That’s what makes this allele dominant.
On the other hand, cystic fibrosis is a recessive disease. The gene for cystic fibrosis encodes a protein that transports sodium across cell membranes. Defects in this gene, called CFTR, can cause non-functional protein to be expressed and decrease the transport of sodium leading to a whole bunch of systemic effects. This is a loss of function. However, if you only have one mutant copy of the allele, then the other allele expresses a functional protein that can still do what the gene is supposed to do. This makes the disease recessive, because you need two “broken” alleles for a complete loss of this protein function.
Edit: punctuation
csprofathogwarts t1_ix1kyhc wrote
Was the same type of thing going on with Mendel's peas?
TheGentlemanDM t1_ix21600 wrote
More or less.
Mendel's peas are a simpler example. For Mendel's peas, the dominant traits in peas are 'active' alleles, and the recessive traits are 'inactive' alleles.
A trait for larger leaves or taller stalks (dominant) requires an active protein function to generate the growth, while the smaller leaves or stalks (recessive) merely requires nothing to happen. Purple flowers (dominant) are the result of a particular pigment, while white flowers (recessive) lack the pigment.
Having one copy of the dominant allele is enough for this protein production to occur fully, hence why the heterozygote (one of each) displays the dominant trait.
[deleted] t1_ix1mo2t wrote
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[deleted] t1_ix481zp wrote
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[deleted] t1_ixueyr8 wrote
Does that imply that someone who is heterozygous for the cystic fibrosis allele will have poorer lung function than average?
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