Molecular Basis of Dominant & Recessive patterns of inheritance

    Consider patterns of gene expression at three different loci, A, B, and D:

Recessive expression at the A (Xase) locus
Genotype
[ Xase ]
Phenotype
++
100 %
 
+a
 50 %
 
aa
  0 %
 

    The standard + allele produces a functional Xase enzyme; the a allele produces a non-functional enzyme.  The +a heterozygote produces half the typical concentration of enzyme made by a ++ homozygote. This is sufficient for standard phenotypic expression ("green") [haplosufficiency], and the phenotype of the +a heterozygote resembles that of the ++ homozygote. The variant allele a is therefore described as recessive to the wild-type + allele (or, + is dominant to a; this may also be written a+ is dominant to a).


Dominant expression at the B (Yase) locus
Genotype
[ Yase ]
Phenotype
++
100 %
 
+B
50 %
 
BB
0 %
 

    The standard + allele produces a functional Yase enzyme; the B allele produces a non-functional enzyme. The +B heterozygote produces half the typical concentration of enzyme. So far this is exactly the same pattern as at the Xase locus. However, the amount of enzyme produced by the +B heterozygote is not enough to produce standard phenotypic expression [haploinsufficiency], and the phenotype of the +B heterozygote resembles that of the BB homozygote ("pink"). The variant allele B is therefore described as dominant to the wild-type + allele  (or, + is recessive to B, or B is dominant to b+). Even though the recessive ++ homozygote produces more enzyme, this does not make the + allele "dominant" to the B allele.


Recessive expression at the D (Zase) locus
Genotype
[ Zase ]
Phenotype
++
100%
 
+d
120%
 
dd
140%
 

    The standard + allele produces a functional Zase enzyme; the d allele results in overproduction of the enzyme, which results in an exaggerated phenotype ("dark blue"). The phenotype of the +d heterozygote is the same as the ++ homozygote ("light blue"): the variant d allele is therefore described as recessive to the wild type + allele (or, d+ is dominant to d). Note that the higher level of enzyme production and the exaggerated phenotype produced by the d allele do not make it dominant to the + allele.



More on Haplosufficiency and Haploinsufficiency as the basis of Dominant and Recessive inheritance



Homework
Expression at the E (Ease) locus
Genotype
[ Ease ]
Phenotype
¢ ¢
50 %
 
$ ¢
 100 %
 
$ $
  150 %
 

Based on the phenotypic expression patterns of the genotypic combinations of alleles ¢ and $, which of the two alleles is dominant to the other? Explain.

Given your decision, explain the genotypic and molecular basis of the phenotypes.


All text material ©2024 by Steven M. Carr