The genome is
not
static: genes move
Phenomenon
identified in 1940s by B. McClintock
in maize: Nobel
Prize
1983
[Keller:
"A Feeling for the Organism"]
Ac
- Ds system in maize (Zea) described
1950s
Ds
(Dissociator) locus causes chromosome
breaks
only when Ac (Activator)
locus is present
in trans configuration
Break
affects expression
of other genes in cis
configuration
Ds
element may "jump" elsewhere in genome:
effect
on expression of other genes is unstable,
depending
on position of Ds
Ac
& Ds turn out to be transposable
DNA
elements
inverted terminal repeats (ITRs)
- dsDNA reads the same in both
orientations
5' - ATCCG
~~~~~(ORF)~~~~~CGGAT - 3'
3' -
TAGGC~~~~~~~~~~~~~~~~GCCTA - 5'
elements may move from one position to another in genome, with
similar ITRs
Ac
has an ORF for a 'Transposase'
gene
Ds is an Ac with a defective Transposase
gene
Transposable
elements account for 'classical' genetic mutants
'wrinkled' (rr)
peas (Pisum)
defect
of starch-branching enzyme (SBEI)
'white eyes' in Drosophila
insertion
of copia sequences
Alu
sequences in Homo
300
bp element, 9 x 105 copies
10% of human
genome
is mobile