What does the protein product determine

Dominance of 1 allele over another

Loss of function mutations

Prevent production or activity of WT protein, usually recessive

Types of loss of function mutations

Amorphic and hypomorphic mutations

Allele that results in no functional protein

Hypomorphic mutations

"leaky" allele that results in less protein than wild type

Wild type protein is overexpressed or expressed at the wrong time

Gain of function mutations

Causes wild type protein to be overexpressed, expressed at the wrong time or have a novel function

Types of gain of function mutations

Hypermorphic and Neomorphic mutation

Allele that produces protein with novel function

Result in a heterozygous phenotype that looks different than either homozygous type. The phenotype is intermediate between 2 homozygous ones.

Heterozygous phenotype has both homozygous phenotypes

-4 blood types from the different combination of 3 allleles - IA, IB and i -IA and IB are codominant and completely dominant over i

Single gene mutations so detrimental they cause death and distort the segregation ratio Ex. Mice Ay Ay

Essential protein in mice for development with a very strong promoter that regulates the agouti gene

Gene-environment interaction

Environment can influence expression of genes on phenotypes of organisms. Same alleles may produce different phenotypes in different environments.

Example of gene-environment interaction

Accumulation of PKU in humans can be toxic to developing neurons which can lead to the permanent loss of motor and mental raparity.

Collaboration of multiple genes in the production of a single phenotypic characteristic and work together in a multi-step biosynthetic pathway.

Experimental approach taken to investigate the steps of a biosynthetic pathway.

Don't grow on minimal media but can be rescued by adding supplements to the media

-Needs a min of 2 genes -Mutation of 1 gene can prevent production of the end product -Allele of one gene modifies or prevents expression of alleles at another gene

Complementary gene interaction

-Genes act in tandem to produce a phenotype -9:7

Recessive epistasis 9:3:4

Recessive allele of 1 gene blocks/masks expression of another gene

Dominant epistasis 12:3:1

Dominant allele of 1 gene block/masks expression of another gene

Dominant expression 13:3

Dominant allele of 1 gene blocks/masks expression of dominant allele of another gene

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BIOL topic 8

Question	Answer
What does the protein product determine	Dominance of 1 allele over another
Loss of function mutations	Prevent production or activity of WT protein, usually recessive
Types of loss of function mutations	Amorphic and hypomorphic mutations
Amorphic mutations	Allele that results in no functional protein
Hypomorphic mutations	"leaky" allele that results in less protein than wild type
Hypermorphic	Wild type protein is overexpressed or expressed at the wrong time
Gain of function mutations	Causes wild type protein to be overexpressed, expressed at the wrong time or have a novel function
Types of gain of function mutations	Hypermorphic and Neomorphic mutation
Neomorphic mutation	Allele that produces protein with novel function
Incomplete dominance	Result in a heterozygous phenotype that looks different than either homozygous type. The phenotype is intermediate between 2 homozygous ones.
Co dominance	Heterozygous phenotype has both homozygous phenotypes
Blood dominance	-4 blood types from the different combination of 3 allleles - IA, IB and i -IA and IB are codominant and completely dominant over i
Lethal alleles	Single gene mutations so detrimental they cause death and distort the segregation ratio Ex. Mice Ay Ay
Raly	Essential protein in mice for development with a very strong promoter that regulates the agouti gene
Gene-environment interaction	Environment can influence expression of genes on phenotypes of organisms. Same alleles may produce different phenotypes in different environments.
Example of gene-environment interaction	Accumulation of PKU in humans can be toxic to developing neurons which can lead to the permanent loss of motor and mental raparity.
Gene interaction	Collaboration of multiple genes in the production of a single phenotypic characteristic and work together in a multi-step biosynthetic pathway.
Genetic dissection	Experimental approach taken to investigate the steps of a biosynthetic pathway.
Auxotrophs	Don't grow on minimal media but can be rescued by adding supplements to the media
Epistasis	-Needs a min of 2 genes -Mutation of 1 gene can prevent production of the end product -Allele of one gene modifies or prevents expression of alleles at another gene
How many phenotypes are there if there is no epistasis?	4
Complementary gene interaction	-Genes act in tandem to produce a phenotype -9:7
Duplicate gene action	15:1
Dominant gene interaction	9:6:1
Recessive epistasis 9:3:4	Recessive allele of 1 gene blocks/masks expression of another gene
Dominant epistasis 12:3:1	Dominant allele of 1 gene block/masks expression of another gene
Dominant expression 13:3	Dominant allele of 1 gene blocks/masks expression of dominant allele of another gene

Created by: user-2006655

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