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Article

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

14 Jun 2006

Abstract excerpt

Genomic architecture, higher order structural features of the human genome, can provide molecular substrates for recurrent sub-microscopic chromosomal rearrangements, or may result in genomic instability by forming structures susceptible to DNA double-strand breaks. Pelizaeus-Merzbacher disease (PMD) is a genomic disorder most commonly arising from genomic duplications of the dosage-sensitive proteolipid protein...

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PMID: 16774974
DOI: 10.1093/hmg/ddl150

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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher diseasePMID 16774974Read ↗

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.Semantic proximity Read ↗

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.Semantic proximity Read ↗

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.Semantic proximity Read ↗

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.Semantic proximity Read ↗

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.Semantic proximity Read ↗

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Semantic proximity Read ↗

Multiplex Ligation-Dependent Probe Amplification for Rapid Detection of Proteolipid Protein 1 Gene Duplications and Deletions in Affected Males and Carrier Females with Pelizaeus–Merzbacher DiseaseSemantic proximity Read ↗

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.Semantic proximity Read ↗

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.Semantic proximity Read ↗

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.Semantic proximity Read ↗

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Semantic proximity Read ↗

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.Semantic proximity Read ↗

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