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 also transpose ("jump")
to a locus elsewhere in genome:
effect
on expression of other genes may be unstable & reversible,
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 fruit flies (Drosophila)
insertion
of copia sequences
Alu
sequences in Homo
300
bp element, 9 x 105 copies
10% of human genome is mobile