Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10294518" target="_blank" >RIV/00216208:11130/15:10294518 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/15:10294518

Result on the web

<a href="http://dx.doi.org/10.1371/journal.pgen.1005050" target="_blank" >http://dx.doi.org/10.1371/journal.pgen.1005050</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pgen.1005050" target="_blank" >10.1371/journal.pgen.1005050</a>

Result language

angličtina

Original language name

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

Original language description

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 genomicintervals-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 inte

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

<a href="/en/project/NT14348" target="_blank" >NT14348: New generation sequencing and genotyping approaches of DNA analysis for effective and comprehensive molecular diagnostics of less common and novel types of hereditary neuropaties Charcot-Marie-Tooth.</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2015

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

PLoS Genetics

ISSN

1553-7390

e-ISSN

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Volume of the periodical

11

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

26

Pages from-to

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UT code for WoS article

000352197100038

EID of the result in the Scopus database

2-s2.0-84926140134