Exam II - Chapter 5 Flashcards by julie collette

Alters the product of the gene, and thus its function or activity

Type of mutation and location?

Substitution, insertion, deletion, duplication

Coding region

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Alters the timing, location, or level of expression of the gene

Alters the developmental or environmental context in which the gene is expressed

Mutation located in CIS-REGULATORY REGIONS

Substitution, insertion, deletion, duplication that alters the binding affinity of promoters, activators, repressors, etc.

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Alters the binding affinity and thus the activity of a promoter, activator, repressor, etc.

Type of mutation? Location of mutation?

Mutations to coding regions of trans-acting factor

Trans-regulatory regions

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Alters where, when or to what extent inhibitory, activating, or other trans-acting regulatory factors are expressed

Type of mutation? Location of mutation?

Mutation to cis- or trans- regulatory regions of trans-acting factors

Trans-Regulatory Regions

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Alters the timing, location, or level of expression of the gene

Alters the developmental or environmental context in which the gene is expressed

Located in Physiological Pathways (ex: hormones)

Type of mutation?

Mutations alter where, when, or how much an endocrine signal is produced

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DNA sequences that resemble functional genes but have lost their protein-coding ability or are no longer expressed

Pseudogenes

“Fake genes”

Fossil genes

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The process of receiving genetic material from an ancestor

Vertical gene transfer

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Any process in which the genetic material is transferred to another organism without descent

Horizontal gene transfer

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Humans exhibit _____ gene transfer.

Vertical

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Bacteria exhibit _____ gene transfer.

Horizontal

(Ex: Use plasmids to go from one individual to another)

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Mutations that affect cells in the body of an organism.

They affect all daughter cells produced by the affected cell and can affect the phenotype of the individual

*Not heritable*

Somatic mutations

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In animals, somatic cells are/are not passed down to offspring.

Are NOT

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Mutations that affect the gametes (eggs, sperm) of an individual and can be transmitted from parent to offspring.

Because they can be passed on, they create the heritable genetic variation that is relevant to evolution

Germ-line Mutations

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Genetic makeup of an individual.

Specific alleles carried by an individual for any particualr gene

Genotype

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An observable, measurable characteristic of an organism

Phenotype

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Simultaneous occurrence of two or more discrete phenotypes within a population

Genetic polymorphism

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A trait for which multiple, discrete phenotypes can arise from a single genotype depending on environmental circumstances

Polyphenic trait

A single base changes from one nucleotide to another

Point mutation (substitution)

A segment of DNA is inserted into the middle of an existing sequence. May be as short as a single base or as long as thousands of bases.

Insertion

A segment of DNA may be deleted accidentally. Small portion or entire set of genes may be removed

Deletion

A segment of DNA is copied a second time. Can happen to entire genes, even entire genomes

Duplication

A segment of DNA is flipped around and inserted backward into its original position

Inversion

Two chromosomes are joined together as one

Chromosome fusion

Chromosomes are duplicated or lost, leading to abnormal levels of ploidy

Aneuploidy

\_\_\_\_\_ mutation can be multiple base pairs at different locations

Point mutation

Example of chromosome fusion

Humans have 46 chromosomes. "Monkeys" have 48 chromosomes. What does this tell you? This has happened recently (last 7 million years). After chimp lineage split from human lineage

Mutation that is subtle, minor, slight, almost undetected

Point mutation

Example of point mutation

6 fingers, finger fusion, skin pigmentation, enlarged skull

Point mutation has no \_\_\_\_\_, most are eliminated by \_\_\_\_\_.

No adaptation; by natural selection

3 Problems with evolution for the 1st 70 years

1. Darwin knew nothing of mutations 2. Darwin knew nothing about genetics 3. Age of the Earth was not known

Germ-line mutations are \_\_\_\_\_.

Heritable

Ring-neck doves had only 3 colors for 800 years. Now, there are all kinds of colors and feather changes. Why?

We think **inversions** - chromosomes with tightly linked genes for dove color Genes for dove color now slightly less linked

African violets are all sorts of colors, leaf types, etc. - this started occuring in the 1970's. This is another example of...

Inversion

Evolution of complex eye seems to be due to....

Gene duplication

Ancestral _opsin_ - red vs. green eventually created

Both green and red

Seeing both green and red provides tremendous amount of \_\_\_\_\_, advantageous. Might help to determine if a fruit is _____ or not.

Selection; ripe

As our vision evolved more and more, we needed _____ less and less.

Our olfactory genes

\_\_\_\_\_% of all our olfactory receptor genes are fossilized

50%

Only 5 of 200 _____ are functional in humans, in contrast to rats with 160 of 200.

Olfactory genes

If the phenotype no longer provides \_\_\_\_\_, natural selection no longer eliminates harmful mutation and the gene \_\_\_\_\_.

An adaptation; fossilizes

Natural selection eliminates \_\_\_\_\_

Harmful mutations

What's an example of a polyphenic trait?

Horns in beetles. Beetles that developed in an **environment** with ample nutrition attain a larger body size \*sensitive to environment\*