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Germ line cell
cell lineage that produces gametes (sperm or eggs)
Somatic cell
any cell that is not a germ line cell (body cell)
If mutation occurs in somatic cell
mutation may affect individual that it ocurred in
If mutation occurs in germ cell after germ line is set aside
will not affect individual but may be passed to the next gen and result in heritable trait
If mutation occurs within a gene
results in altered product
If mutation occurs in regulatory region
results in altered expression
If gene duplication occurs
results in new gene family
What is the ectopic expression of antennapedia gene in the head of drosophila an example of?
mutation in its regulatory DNA
How are adult humans able to digest lactose?
mutation in regulatory DNA of lactase gene that allows enzyme to be made beyond infancy
Gene families
groups of genes that originate from common ancestral gene
Globin gene family structure
3 exons & 2 introns
Pseudogenes
non-functional genes
T/F all version of globin gene family are expressed during whole lifetime
False; different versions are expressed during fetal, embryonic, and adult stages
What does adult version of globin gene family contain?
two α & two β subunits
T/F embryonic & fetal globins have higher affinities for oxygen than adult globins
true
How do gene families originate?
by gene duplications
How does unequal crossing over cause gene duplications?
short repeated sequences within homologous chromosomes can cause misalignments & unequal crossing over
What does unequal crossing over result in?
chromosomes with altered sizes & genetic contents
How does transposition of mobile genetic elements mediate recombination of genes or regulatory sequences?
two similar mobile genetic elements inserted near each other in chromosome by change
transposition mechanisms ends up using the ends of the two different elements
results in movement of entire segment of chromosome btwn them
What does the transposition of regulatory sequences alter?
tissue specific pattern of expression of genes
What happens if transposed segment includes an exon?
its insertion into a second gene creates a new version of that gene
How are new proteins with multiple functional domains created?
duplication & movement of segments of DNA causes fragments of different genes to be pieced together
Vertical transfer
parent → child (through gametes)
Horizontal transfer
one organism to another
Examples of horizontal transfer
viral infections
conjugation: transfer of DNA from one bacterium to another through a sex pilus
What causes ALS?
HERV-K: ancient retrovirus that was incorporated into human DNA 2-5 mya
HERVs
retroviruses that infect neurons & germ cells