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

• Published in: Human molecular genetics Vol. 15; no. 14; pp. 2250 - 2265
• Main Authors: LEE, Jennifer A, INOUE, Ken, CHEUNG, Sau W, SHAW, Chad A, STANKIEWICZ, Pawel, LUPSKI, James R
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.07.2006; Oxford Publishing Limited (England)
• Subjects: Base Sequence; Biological and medical sciences; Chromosome Breakage; Cohort Studies; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Fundamental and applied biological sciences. Psychology; Gene Dosage; Gene Duplication; Gene Rearrangement; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Humans; In Situ Hybridization, Fluorescence; Male; Medical sciences; Membrane Proteins - genetics; Models, Genetic; Molecular and cellular biology; Myelin Proteolipid Protein - genetics; Neurology; Pedigree; Pelizaeus-Merzbacher Disease - genetics; Recombination, Genetic; Terminal Repeat Sequences; Nervous system diseases; Pelizaeus-Merzbacher disease; Duplication; Genomics; Central nervous system disease; Genetics; Degenerative disease; Cerebral disorder; Genetic disease

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...