@article {346,
	title = {Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.},
	journal = {PLoS Genet},
	volume = {11},
	year = {2015},
	month = {2015 Mar},
	pages = {e1005050},
	abstract = {<p>Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) rearrangements that contain breakpoint junctions within IRs have been recently associated with both MECP2 duplication syndrome (MIM$\#$300260) and Pelizaeus-Merzbacher disease (PMD, MIM$\#$312080). We investigated 17 unrelated PMD subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals-16/17 were found to have a DUP-TRP/INV-DUP rearrangement product. An IR distal to PLP1 facilitates DUP-TRP/INV-DUP formation as well as an inversion structural variation found frequently amongst normal individuals. We show that a homology-or homeology-driven replicative mechanism of DNA repair can apparently mediate template switches within stretches of microhomology. Moreover, we provide evidence that quadruplication and potentially higher order amplification of a genomic interval can occur in a manner consistent with rolling circle amplification as predicted by the microhomology-mediated break induced replication (MMBIR) model. </p>},
	keywords = {Chromosome Breakpoints, Chromosome Inversion, Gene Dosage, Gene Duplication, Humans, Myelin Proteolipid Protein, Pelizaeus-Merzbacher Disease},
	issn = {1553-7404},
	doi = {10.1371/journal.pgen.1005050},
	author = {Beck, Christine R and Carvalho, Claudia M B and Banser, Linda and Gambin, Tomasz and Stubbolo, Danielle and Yuan, Bo and Sperle, Karen and McCahan, Suzanne M and Henneke, Marco and Seeman, Pavel and Garbern, James Y and Hobson, Grace M and Lupski, James R}
}
