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High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain

ABSTRACT: High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain

PROVIDER: PRJNA213937 | ENA |

REPOSITORIES: ENA

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High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 1)

Project description:The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement. We designed a tiling-path oligonucleotide microarray spanning 4.6 Mb surrounding the MECP2 region on Xq28. The custom 4x44k Agilent Technologies microarray was designed using the Agilent earray website. We selected 22,000 probes covering ChrX: 150,000,000-154,600,000 (NCBI build 36), including the MECP2 gene, which represents an average distribution of 1 probe per 209 bp. Each patient sample was run once using this array; hybridization was done using a gender-matched reference sample.

2013-08-02 | E-GEOD-49440 | biostudies-arrayexpress

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 2)

Project description:The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement. We designed a tiling-path oligonucleotide microarray spanning 4.0 Mb surrounding the MECP2 region on Xq28. The custom 4x44k Agilent Technologies microarray was designed using the Agilent earray website. We selected 22,000 probes covering ChrX: 150,400,000-154,400,000 (NCBI build 35), including the MECP2 gene, which represents an average distribution of 1 probe per 500 bp. Each patient sample was run once using this array; hybridization was done using a gender-matched reference sample.

2013-08-02 | E-GEOD-49446 | biostudies-arrayexpress

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 2)

Project description:The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement.

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High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain (part 1)

Project description:The goal of this experiment was to determine the size, genomic extent and gene content of each Xq28 rearrangement.

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High-resolution custom array spanning Xq22 region to study patients carrying PLP1 copy number gain

Project description:High-resolution custom array spanning Xq22 region to study patients carrying PLP1 copy number gain

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High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain

Project description:This SuperSeries is composed of the SubSeries listed below.

2013-08-02 | GSE49447 | GEO

High-resolution custom array spanning Xq28 region to study patients carrying MECP2 copy number gain

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2013-08-02 | E-GEOD-49447 | biostudies-arrayexpress

High-resolution custom array spanning Xq22 region to study patients carrying PLP1 copy number gain

Project description:We investigated the features of the genomic rearrangements in a cohort of 50 male individuals with proteolipid protein 1 (PLP1) copy number gain events who were ascertained with Pelizaeus-Merzbacher disease (PMD; MIM: 312080). Genomic rearrangements in PMD individuals with PLP1 copy number gain events were investigated by high-density customized array and breakpoint junction sequence analysis. Analysis of these data enabled the spectrum and relative distribution of the underlying genomic mutational signatures to be delineated. Genomic rearrangements in PMD individuals with PLP1 copy number gain events were investigated by high-density customized array and breakpoint junction sequence analysis.

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Reversal of MECP2 duplication syndrome using genetic rescue and antisense oligonucleotides [Genetic Rescue Experiments]

Project description:MECP2 duplication syndrome, a childhood neurological disorder characterized by autism, intellectual disability, motor dysfunction, anxiety and epilepsy, is caused by a duplication on chromosome Xq28 spanning the MECP2 gene that results in doubling of MeCP2 levels. MECP2 overexpression in mice causes neurobehavioral and electroencephalographic defects similar to those of human patients, but the gross anatomy of the brain remains unaffected. We hypothesized that MECP2 duplication syndrome would be reversible and tested two methods to restore MeCP2 levels to normal: conditional genetic recombination and antisense oligonucleotide therapy. Both approaches rescued molecular, physiological and behavioral features of adult symptomatic mice. Antisense therapy also restored normal MeCP2 levels in lymphoblastoid cells from MECP2 duplication patients, in a dose-dependent manner. Our data indicate that antisense oligonucleotides could provide a viable therapeutic approach for human MECP2 duplication syndrome as well as other disorders involving copy number gains.

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Reversal of MECP2 duplication syndrome using genetic rescue and antisense oligonucleotides [ASO time point 1]

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