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Unformatted text preview: eletions, microduplications; etc). Rare copy number variations? Science 2008, 320:542 Not-so rare SNPs, but lots of them ? Missing heritability? Perhaps not… How has the human genome come to have such a great amount of CNV? ! ! Two recombination-based mechanisms, i.e., nonallelic homologous recombination (NAHR) and
nonhomologous end-joining (NHEJ) (98), and retrotransposition (63, 64, 68, 181), have been
implicated in genomic rearrangements and the formation of CNVs. Recently, a novel replicationbased mechanism, fork stalling and template switching (FoSTeS), has been pro-posed to account
for the observed complex genomic rearrangements that cannot be readily explained by NAHR,
NHEJ, or retrotransposition (78). Notably, breakpoint sequencing data also suggest that a portion
of CNV likely occurs by a mechanism consistent with FoSTeS (125).
Ann Rev Genomics Human Genetics 2009, 10, 451-481 !23 Question
Think about this, and pick one answer that you believe is most likely
true, or go for e and speak up:
Why are there so many vulnerability genes for schizophrenia?
a) because the real genetic culprit has not yet been found. b) because schizophrenia is very heterogeneous disorder, many
different diseases, indeed. c) because minor developmental abnormalities in forebrain neuronal
circuitry can cause schizophrenia d) I haven’t the foggiest. e) I have a better idea that I will explain to the class in a minute
(please do so)....
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- Fall '08