Aging and Sex, DNA Repair in
61
Tab. 3
Early aging: decreased life span from alterations in genes controlling DNA repair or protein oxidation.
Organism
Genetic
Pathway
Aging
Fertility
Spontaneous
Effect on
alteration
phenotype
cancer
Cellular
Induced
Spont.
Induced
ROS
DNA
mutation
apoptosis
damage
Human
RECQ3 helicase and
exonuclease defect
(Werner syndrome)
HRR and NHEJ
Early aging
Reduced
Increased
n.t.
Increased
Increased
n.t.
Human
RECQ2 helicase defect
(Bloom syndrome)
HRR and NHEJ
Early aging
Reduced
Increased
n.t.
Increased
Increased
n.t.
Human
RECQ4 helicase defect
(Rothmund–Thomson
syndrome)
DNA repair
pathway,
unknown type
Early aging
Reduced
Increased
n.t.
n.t.
Increased
n.t.
Human and
Mouse
XPD helicase defective at
certain sites
(Trichothiodystrophy)
NER, also alters
transcription
initiation
Early aging
Reduced
No change
n.t.
n.t.
n.t.
Increased
Human
CSB defect at 2 helicase
motifs or ATPase motif
(Cockayne syndrome)
BER if defective at
helicase motif V
or VI, TCR if
defective in
ATPase function
Early aging
n.t.
No change
n.t.
Increased
n.t.
Increased
Mouse
Ku-80 (activator of Ku-70
helicase) defect
NHEJ
Early aging
n.t.
Increased
n.t.
n.t.
n.t.
Mouse
Topoisomerase III
β
defect
Unknown, but
probably DNA
repair,
replication, or
recombination
Early aging
n.t.
n.t.
n.t.
n.t.
n.t.
(
continued overleaf
)
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